A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))
A characteristic symptom complex.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.
An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.
Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE.
A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)
The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).
A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45)
An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.
A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.
A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in pregnant women with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.
A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.
A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.
Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by fever and dermal infiltration of neutrophilic leukocytes. It occurs mostly in middle-aged women, is often preceded by an upper respiratory infection, and clinically resembles ERYTHEMA MULTIFORME. Sweet syndrome is associated with LEUKEMIA.
An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA.
A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.
A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.
Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.
A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells).
A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
Symptom complex due to ACTH production by non-pituitary neoplasms.
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
An acute febrile disease occurring predominately in Asia. It is characterized by fever, prostration, vomiting, hemorrhagic phenonema, shock, and renal failure. It is caused by any one of several closely related species of the genus Hantavirus. The most severe form is caused by HANTAAN VIRUS whose natural host is the rodent Apodemus agrarius. Milder forms are caused by SEOUL VIRUS and transmitted by the rodents Rattus rattus and R. norvegicus, and the PUUMALA VIRUS with transmission by Clethrionomys galreolus.
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
WASP protein is mutated in WISKOTT-ALDRICH SYNDROME and is expressed primarily in hematopoietic cells. It is the founding member of the WASP protein family and interacts with CDC42 PROTEIN to help regulate ACTIN polymerization.
A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)
A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.
Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.
An infant during the first month after birth.
A syndrome that is characterized by the triad of severe PEPTIC ULCER, hypersecretion of GASTRIC ACID, and GASTRIN-producing tumors of the PANCREAS or other tissue (GASTRINOMA). This syndrome may be sporadic or be associated with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1.
An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor.
A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL).
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.
A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.
Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)
Mandibulofacial dysostosis with congenital eyelid dermoids.
A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause.
A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.
A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)
Acute respiratory illness in humans caused by the Muerto Canyon virus whose primary rodent reservoir is the deer mouse Peromyscus maniculatus. First identified in the southwestern United States, this syndrome is characterized most commonly by fever, myalgias, headache, cough, and rapid respiratory failure.
Biochemical identification of mutational changes in a nucleotide sequence.
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
A neurovascular syndrome associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the superior thoracic outlet. This may result from a variety of anomalies such as a CERVICAL RIB, anomalous fascial bands, and abnormalities of the origin or insertion of the anterior or medial scalene muscles. Clinical features may include pain in the shoulder and neck region which radiates into the arm, PARESIS or PARALYSIS of brachial plexus innervated muscles, PARESTHESIA, loss of sensation, reduction of arterial pulses in the affected extremity, ISCHEMIA, and EDEMA. (Adams et al., Principles of Neurology, 6th ed, pp214-5).
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
A species of DNA virus, in the genus WHISPOVIRUS, infecting PENAEID SHRIMP.
An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
Congenital absence of or defects in structures of the eye; may also be hereditary.
Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
A disorder beginning in childhood whose essential features are persistent impairment in reciprocal social communication and social interaction, and restricted, repetitive patterns of behavior, interests, or activities. These symptoms may limit or impair everyday functioning. (From DSM-5)
A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)
Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention.
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) fever >38 degrees C or HYPOTHERMIA 90 beat/minute; (3) tachypnea >24 breaths/minute; (4) LEUKOCYTOSIS >12,000 cells/cubic mm or 10% immature forms. While usually related to infection, SIRS can also be associated with noninfectious insults such as TRAUMA; BURNS; or PANCREATITIS. If infection is involved, a patient with SIRS is said to have SEPSIS.
Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.
A syndrome characterized by a TONIC PUPIL that occurs in combination with decreased lower extremity reflexes. The affected pupil will respond more briskly to accommodation than to light (light-near dissociation) and is supersensitive to dilute pilocarpine eye drops, which induce pupillary constriction. Pathologic features include degeneration of the ciliary ganglion and postganglionic parasympathetic fibers that innervate the pupillary constrictor muscle. (From Adams et al., Principles of Neurology, 6th ed, p279)
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.
Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.
Elements of limited time intervals, contributing to particular results or situations.
The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.
A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.
A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves. (Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8)
A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE.
An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)
A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.
An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.
A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome.
A condition of involuntary weight loss of greater then 10% of baseline body weight. It is characterized by atrophy of muscles and depletion of lean body mass. Wasting is a sign of MALNUTRITION as a result of inadequate dietary intake, malabsorption, or hypermetabolism.
A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms.
A species of CORONAVIRUS causing atypical respiratory disease (SEVERE ACUTE RESPIRATORY SYNDROME) in humans. The organism is believed to have first emerged in Guangdong Province, China, in 2002. The natural host is the Chinese horseshoe bat, RHINOLOPHUS sinicus.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A factitious disorder characterized by habitual presentation for hospital treatment of an apparent acute illness, the patient giving a plausible and dramatic history, all of which is false.
A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
The magnitude of INBREEDING in humans.
A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.
A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).

Hashimoto's encephalitis as a differential diagnosis of Creutzfeldt-Jakob disease. (1/670)

OBJECTIVES: During an epidemiological study of Creutzfeldt-Jakob disease in Germany, Hashimoto's encephalitis was encountered as a differential diagnosis, which has not yet been described in this context. METHODS: The symptoms and findings of seven patients who fulfilled the criteria for "possible" Creutzfeldt-Jakob disease are presented. RESULTS: A Hashimoto's thyroiditis with antibodies against thyroglobulin or thyroid peroxidase, or both and a hypoechoic thyroid ultrasonogram were found in all cases. Analysis of CSF disclosed an increased leucocyte count in three patients, and a raised CSF:serum concentration ratio of albumin (QA1b) in four patients. The 14-3-3 protein, typical of Creutzfeldt-Jakob disease, could not be detected in any of our patients. No periodic sharp wave complexes, which are typical of Creutzfeldt-Jakob disease, were detected on EEG in any of the cases. By contrast with Creutzfeldt-Jakob disease, which leads to death within a few months, the patients with Hashimoto's encephalitis often recover quickly when treated adequately. All the patients improved after administration of corticosteroids. CONCLUSION: The clinical symptomatology of both diseases may be very similar: dementia, myoclonus, ataxia, and personality change or psychotic phenomena are characteristic symptoms.  (+info)

Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. (2/670)

Creutzfeldt-Jakob disease (CJD) belongs to a group of prion diseases that may be infectious, sporadic, or hereditary. The 200K point mutation in the PRNP gene is the most frequent cause of hereditary CJD, accounting for >70% of families with CJD worldwide. Prevalence of the 200K variant of familial CJD is especially high in Slovakia, Chile, and Italy, and among populations of Libyan and Tunisian Jews. To study ancestral origins of the 200K mutation-associated chromosomes, we selected microsatellite markers flanking the PRNP gene on chromosome 20p12-pter and an intragenic single-nucleotide polymorphism at the PRNP codon 129. Haplotypes were constructed for 62 CJD families originating from 11 world populations. The results show that Libyan, Tunisian, Italian, Chilean, and Spanish families share a major haplotype, suggesting that the 200K mutation may have originated from a single mutational event, perhaps in Spain, and spread to all these populations with Sephardic migrants expelled from Spain in the Middle Ages. Slovakian families and a family of Polish origin show another unique haplotype. The haplotypes in families from Germany, Sicily, Austria, and Japan are different from the Mediterranean or eastern European haplotypes. On the basis of this study, we conclude that founder effect and independent mutational events are responsible for the current geographic distribution of hereditary CJD associated with the 200K mutation.  (+info)

Incidence rate of Creutzfeldt-Jakob disease in Japan. (3/670)

BACKGROUND: The objective of this study is to clarify the incidence rate of Creutzfeldt-Jakob disease (CJD) during the last decade in Japan. METHODS: A nationwide mail survey was conducted in all hospitals with a minimum bed capacity of 100 and having at least one of three departments: neurology, psychiatry, and neuropathology. The survey required the patient's sex, date of birth, date of diagnosis, diagnostic criteria, medical history and CJD incidence in the family. RESULTS: From 493 hospitals throughout the country, 821 patients with CJD were reported from January 1985 through March 1996. The annual incidence rate was 0.49 per million population for males and 0.68 for females. The age-specific incidence rate was highest among those 70-79 years of age, followed by the 60-69, and 50-59 age groups. The incidence and mortality increased during the observed period; however, the incidence rate among younger generations did not rise. CONCLUSION: A nationwide incidence survey of CJD in Japan revealed the incidence and distribution of the disease over the recent decade. It was found that the incidence and mortality rates had increased during the observed period.  (+info)

Microglial activation varies in different models of Creutzfeldt-Jakob disease. (4/670)

Progressive changes in host mRNA expression can illuminate crucial pathogenetic pathways in infectious disease. We examined general and specific approaches to mRNA expression in three rodent models of Creutzfeldt-Jakob disease (CJD). Each of these models displays distinctive neuropathology. Although mRNAs for the chemokine receptor CCR5, the lysosomal protease cathepsin S, and the pleiotropic cytokine transforming growth factor beta1 (TGF-beta1) were progressively upregulated in rodent CJD, the temporal patterns and peak magnitudes of each of these transcripts varied substantially among models. Cathepsin S and TGF-beta1 were elevated more than 15-fold in mice and rats infected with two different CJD strains, but not in CJD-infected hamsters. In rats, an early activation of microglial transcripts preceded obvious deposits of prion protein (PrP) amyloid. However, in each of the three CJD models, the upregulation of CCR5, cathepsin S, and TGF-beta1 was variable with respect to the onset of PrP pathology. These results show glial cell involvement varies as a consequence of the agent strain and species infected. Although neurons are generally assumed to be the primary sites for agent replication and abnormal PrP formation, microglia may be targeted by some agent strains. In such instances, microglia can both process PrP to become amyloid and can enhance neuronal destruction. Because microglia can participate in agent clearance, they may also act as chronic reservoirs of infectivity. Finally, the results here strongly suggest that TGF-beta1 can be an essential signal for amyloid deposition.  (+info)

Creutzfeldt--Jakob disease. (5/670)

The laboratory transmission to animals of an apparently degenerative disease of the nervous system, Creutzfeldt-Jakob disease (CJD), is now well established. Important questions arising from this observation are the possibility of natural transmission or infectivity and the existence of other similarly transmissible diseases. Epidemiological studies have revealed some possible clusters of CJD and also an association with previous craniotomy, but there is no definite evidence of natural infection. A few instances have been reported of experimental CJD in animals following inoculation with material from Alzheimer's disease, but apart from this there is so far no evidence of transmission of any other form of degenerative nervous disease.  (+info)

Bovine spongiform encephalopathy and new variant Creutzfeldt-Jakob disease. (6/670)

Bovine spongiform encephalopathy (BSE) and Creutzfeldt-Jakob Disease (CJD) belong to a group of degenerative neurological disorders collectively known as the transmissible spongiform encephalopathies (TSEs). The group also includes scrapie of sheep and goats, kuru of humans, chronic wasting disease of mule deer and elk and transmissible encephalopathy of mink. These fatal diseases cause behavioural changes, alterations of sensation, changes in mental state and ataxia. The typical pathology is non-inflammatory vacuolation (spongiosis) in neuronal perikarya and in the grey matter neuropil. Occasionally, there may also be amyloid plaque deposition in certain regions of the brain and, less frequently, the spinal cord. All the diseases have long incubation periods which, depending on the host, may range from many months to several decades. Death is inevitable after a slow progressive illness. In this review, I shall cover the recent UK outbreak of BSE and its relationship to new variant Creutzfeldt-Jakob disease.  (+info)

When did bovine spongiform encephalopathy (BSE) start? Implications on the prediction of a new variant of Creutzfeldt-Jakob disease (nvCJD) epidemic. (7/670)

BACKGROUND: Knowing the starting date of the BSE epidemic and its size at the very beginning is crucial to interpret the timing of the nvCJD cases and to forecast the nvCJD epidemic. The first cases occurred in 1985. The models devised by Anderson (back-calculation) and Dealler (age-period-cohort) led to an estimate of less than 50 cases in 1983, and none earlier. Here, we applied age-cohort models to the BSE data in order to estimate the earliest possible date of the first unrecognized BSE cases. METHODS: The numbers of confirmed BSE cases in the UK, by age group and by calendar year from 1988 to 1996, were analysed by Poisson regression. The cases' age distribution was considered as constant between the different birth cohorts. The herd's age structure was taken into account. RESULTS: According to the models, BSE cases may have occurred as early as 1980. The expected number of cases before 1990 is almost twice the number of confirmed cases and exceeds by more than 20% the expected value of Anderson's model. The scenario of first human exposure in 1980 leads to fewer future nvCJD cases than predicted by Cousens with exposure patterns starting in 1983 or 1985. CONCLUSION: The first birth cohort available, consisting of two cases older than 10 in 1988, does not allow any projections before 1980. Moreover, confidence intervals are wide and the power of the study is limited by the great dispersion of the data; the precision of the estimations would be improved by considering geographical incidence. Nevertheless, our projections are consistent with Wilesmith's survey of rendering plants relating the emergence of BSE to the dramatic fall in the proportion of meat and bone meal following solvent extraction, initiated in the late 1970s (65% in 1977 to 10% in 1983).  (+info)

Unusual resistance to ionizing radiation of the viruses of kuru, Creutzfeldt-Jakob disease, and scrapie. (8/670)

The titers of several preparations of kuru. Creutzfeldt-Jacob disease, and scrapie viruses were reduced by only 1/10th or less by high doses of gamma radiation of 50 kGy and by only 1/10th-1/1000th or less for 200 kGy. This unusual radiation resistance of the two human viruses further links them with the scrapie virus and suggests that the genetic information of all three viruses is considerably smaller than that of any other known viruses of mammals.  (+info)

IMPORTANCE: The diagnosis of autoimmune and neurodegenerative conditions can be unclear. Treatments such as removing the associated tumor, if present, and immunosuppression can halt or often reverse the progression of autoimmune conditions, but there is no curative treatment for neurodegenerative conditions. The presence of autoantibodies can sometimes be misleading. This report illustrates potential difficulties in differentiating autoimmune encephalopathies from sporadic Creutzfeldt-Jakob disease. OBSERVATIONS: In a clinical follow-up of an older man with rapidly evolving encephalopathy at a neuroscience center, unsuccessful treatment with immunosuppression based on the incorrect presumptive diagnosis of Morvan syndrome was followed by the correct histological diagnosis of sporadic Creutzfeldt-Jakob disease. CONCLUSIONS AND RELEVANCE: Autoimmune encephalopathies raise important treatment options and potential for recovery. However, since neuronal antibodies may be positive in prion disease,
Epidemiological studies on the potential role of surgery in Creutzfeldt-Jakob Disease transmission have disclosed associations with history of specific surgical interventions or reported negative results. Within the context of a case-control study designed to address surgical risk of sporadic Creutzfeldt-Jakob Disease in Nordic European countries (EUROSURGYCJD Project), a strategy was adopted to categorise reported surgical procedures in terms of potential risk of Creutzfeldt-Jakob Disease acquisition. We took into account elements of biological plausibility, either clinically or experimentally demonstrated, such as tissue infectivity, PrP expression content or successful route of infection. We propose a classification of exposed tissues and anatomic structures, drawn up on the basis of their specific putative role as entry site for prion transmission through contact with surgical instruments that are not fully decontaminated. This classification can serve as a reference, both in our study and in
BACKGROUND: With respect to sporadic Creutzfeldt-Jakob disease (sCJD), six molecular subtypes (MM1, MM2, MV1, MV2, VV1, and VV2) have been described, which vary with respect to age at disease onset, disease duration, early symptoms, and neuropathology. MRI signal alterations were reported to correlate with distinct Creutzfeldt-Jakob disease (CJD) subtypes. This multicenter, international study aimed to describe the brain MRI findings associated with each of the sCJD molecular subtypes. METHODS: Pathologically confirmed sCJD cases with codon 129 genotype (MM, MV, and VV), PrP(Sc) type, and fluid-attenuated inversion recovery (FLAIR) or diffusion-weighted imaging (DWI) were collected in seven countries. All MRI scans were assessed for signal changes according to a standard protocol encompassing seven cortical regions, basal ganglia, thalamus, and cerebellum. RESULTS: MRI scans were evaluated in 211 CJD patients (98 MM1, 23 MM2, 19 MV1, 30 MV2, 9 VV1, and 32 VV2). Basal ganglia hyperintensities ...
Sporadic Creutzfeldt-Jakob disease (sCJD) is the commonest form of human prion diseases, accounting for about 85% of all cases. Current criteria for intra vitam diagnosis include a distinct phenotype, periodic sharp and slow-wave complexes at electroencephalography (EEG), and a positive 14-3-3-protein assay in the cerebrospinal fluid (CSF). In sCJD, the disease phenotype may vary, depending upon the genotype at codon 129 of the prion protein gene (PRNP), a site of a common methionine/valine polymorphism, and two distinct conformers of the pathological prion protein. Based on the combination of these molecular determinants, six different sCJD subtypes are recognized, each with distinctive clinical and pathologic phenotypes. We analyzed CSF samples from 127 subjects with definite sCJD to assess the diagnostic value of 14-3-3 protein, total tau protein, phosphorylated181 tau, and amyloid beta (Aβ) peptide 1-42, either alone or in combination. While the 14-3-3 assay and tau protein levels were the most
CC) Peter Rudge, Zane Jaumuktane, Peter Adlard, Nina Bjurstrom, Diana Caine, Jessica Lowe, Penny Norsworthy, Holger Hummerich, Ron Druyeh, Jonathan D. F. Wadsworth, Sebastian Brandner, Harpreet Hyare, Simon Mead, John Collinge DOI: http://dx.doi.org/10.1093/brain/awv235 First published online: 12 August 2015 Summary Patients with iatrogenic Creutzfeldt-Jakob disease due to administration of cadaver-sourced growth hormone during childhood are still being seen in the UK 30 years after cessation of this treatment. Of the 77 patients who have developed iatrogenic Creutzfeldt-Jakob disease, 56 have been genotyped. There has been a marked change in genotype profile at polymorphic codon 129 of the prion protein gene (PRNP) from predominantly valine homozygous to a mixed picture of methionine homozygous and methionine-valine heterozygous over time. The incubation period of iatrogenic Creutzfeldt-Jakob disease is significantly different between all three genotypes. This experience is a striking contrast ...
BACKGROUND: Epidemiologic evidence of surgical transmission of sporadic Creutzfeldt-Jakob disease (sCJD) remains controversial. METHODS: From Danish and Swedish registries we selected 167 definite and probable sCJD cases (with onset between 1987 and 2003) and 3,059 controls (835 age-, sex-, and residence-matched, and 2,224 unmatched). Independent of case/control status, surgical histories were obtained from National Hospital Discharge Registries. Surgical procedures were categorized by body system group and lag time to onset of sCJD. Exposure frequencies were compared using logistic regression. RESULTS: A history of any major surgery, conducted ,/=20 years before sCJD onset, was more common in cases than both matched (OR = 2.44, 95% CI = 1.46-4.07) and unmatched controls (OR = 2.25, 95% CI = 1.48-3.44). This observation was corroborated by a linear increase in risk per surgical discharge (OR = 1.57, 95% CI = 1.13-2.18; OR = 1.50, 95% CI = 1.18-1.91). Surgery of various body systems, including ...
1. Dougherty MK, Morrison KD. Unlocking the code of 14-3-3. J Cell Sci 2004; 117(10): 1875-1884. 2. Berg D, Holzmann C, Riess O. 14-3-3 protein in the nervous system. Nat Rev Neurosci 2003; 4(9): 752-762. 3. Hermeking H, Benzinger A. 14-3-3 proteins in cell cycle regulation. Sem Cancer Biol 2006; 16(3): 183-192. 4. Tzivion G, Gupta VS, Kaplun L, Balan V. 14-3-3 proteins as potential oncogenes. Semin Cancer Biol 2006; 16(3): 203-213. 5. World Health Organization. Survillance case definitions for the classification of human transmissible spongiform encephalopathies. In: WHO Manual for Surveillance of Human Transmissible Spongiform Encephalopathies. Geneva: World Health Organization 2003: 71-72. 6. Castellani RJ, Colucci M, Xie Z, Zou W, Li C, Parchi P et al. Sensitivity of 14-3-3 protein test varies in subtypes of sporadic Creutzfeldt-Jakob disease. Neurology 2004; 63(3): 436-442. 7. Cuadrado-Corrales N, Jiménez-Huete A, Albo C, Hortigüela R, Vega L, Cerrato L et al. Impact of the clinical ...
We report the case of a 28 year old man who had received a cadaverous dura mater graft after a traumatic open skull fracture with tearing of the dura at the age of 5 years. A clinical suspicion of Creutzfeldt-Jakob disease (CJD) was confirmed by a brain biopsy 5 months prior to death and by autopsy, thus warranting the diagnosis of iatrogenic CJD (iCJD) according to WHO criteria. Immunohistochemistry showed widespread cortical depositions of disease associated prion protein (PrPsc) in a synaptic pattern, and western blot analysis identified PrPsc of type 2A according to Parchi et al. Surprisingly, we found Alzheimer-type senile plaques and cerebral amyloid angiopathy in widespread areas of the brain. Plaque-type and vascular amyloid was immunohistochemically identified as deposits of beta-A4 peptide. CERAD criteria for diagnosis of definite Alzheimers disease (AD) were met in the absence of neurofibrillar tangles or alpha-synuclein immunoreactive inclusions. There was no family history of AD, ...
Friday, November 23, 2012 sporadic Creutzfeldt-Jakob Disease update As at 5th November 2012 UK, USA, AND CANADA http://creutzfeldt-jakob-disease.blogspot.com/2012/11/sporadic-creutzfeldt-jakob-disease.html kind regards, terry
Variant Creutzfeldt-Jakob disease (vCJD) is a human prion disease resulting from the consumption of meat products contaminated by the agent causing bovine spongiform encephalopathy. Evidence supporting the presence of a population of silent carriers that can potentially transmit the disease through …
The Australian National Creutzfeldt-Jakob disease Registry (ANCJDR) was established in October 1993 to monitor possible medically cases of Creutzfeldt-Jakob disease and subsequently all forms of prion disease including sporadic, familial and the potential occurrence of variant Creutzfeldt-Jakob disease in Australia. This report provides data collected prospectively from 1993 to 2013 and retrospectively to 1970.
I would like to submit a review of past CJD surveillance in the USA, and the urgent need to make all human TSE in the USA a reportable disease, in every state, of every age group, and to make this mandatory immediately without further delay. The ramifications of not doing so will only allow this agent to spread further in the medical, dental, surgical arenas. North America seems to have the most species with documented Transmissible Spongiform Encephalopathys, most all of which have been rendered and fed back to food producing animals and to humans for years. If you look at the statistics, sporadic CJD seems to be rising in the USA, and has been, with atypical cases of the sCJD. I find deeply disturbing in the year of 2009, that Human Transmissible Spongiform Encephalopathy of any strain and or phenotype, of all age groups, and I stress all age groups, because human TSEs do not know age, and they do not know borders. someone 56 years old, that has a human TSE, that has surgery, can pass this ...
Figure. . . Maps showing axial fluid attenuated inversion recovery (FLAIR), diffusion-weighted imaging (DWI), and apparent diffusion coefficient (ADC) at the level of the basal nuclei (top row) and dorsal frontoparietal cortex (bottom row) of the brain of a 33.8-year-old man with agenesis of the corpus callosum, schizencephaly, and heterotopia. Note the symmetrical DWI signal hyperintensities in the striatum and dorsomedial part of the thalami. In addition, DWI signal hyperintensities occurred in the cingulate, precuneus and in the dysplastic gray matter along the anterior lips of the schizencephalic clefts at the level of the precentral gyri. The signal abnormalities are associated with decreased diffusivity on ADC maps and are much less prominent on FLAIR images. These findings are highly suggestive of Creutzfeldt-Jakob disease. ...
(title:Creutzfeldt-Jakob disease AND body:Creutzfeldt-Jakob disease) OR title:Creutzfeldt-Jakob disease, CJD, creutzfeld-Jakob, prion, Creutzfeldt-Jakob disease symptoms, stages of Creutzfeldt-Jakob disease, Creutzfeld, jacob
In 2001, the observed annual mortality from Creutzfeldt-Jakob disease (CJD) in Switzerland increased from less than 1.5 to 2.6 per million inhabitants. An underlying cause could not be identified. To analyse potential risk factors for sCJD in Switzerland, close relatives of 69 sCJD-patients and 224 frequency age-matched controls were interviewed in a case-control study using a standardised questionnaire. 135 potential risk factors including socio-demographics, medical history, occupation and diet were analysed by logistic regression adjusting for age, sex and education. sCJD patients were more likely to have travelled abroad, worked at an animal laboratory, undergone invasive dental treatment, orthopaedic surgery, ophthalmologic surgery after 1980, regular GP visits, taken medication regularly, and consumed kidney. No differences between patients and controls were found for residency, family history, and exposure to environmental and other dietary factors. Although some factors were significantly more
Creutzfeldt-Jakob Disease Susceptibility: An Approach to Discovering Multiple Candidate Genes for Human Prion Diseases Human prion diseases, including Creutzfeldt-Jakob ..
Surveillance for Creutzfeldt-Jakob disease in China from 2006 to 2007. Qi Shi; Chen Gao; Wei Zhou; Bao-Yun Zhang; Jian-Ming Chen; Chan Tian; Hui-Ying Jiang; Jun Han; Ni-Juan Xiang; Xiao-Fang Wang; Yong-Jun Gao; Xiao-Ping Dong // BMC Public Health;2008, Vol. 8 Issue 1, p360 Background: Human transmissible spongiform encephalopathies (HTSE), or Creutzfeldt-Jakob disease (CJD), is a group of rare and fatal diseases in central nervous system. Since outbreak of bovine spongiform encephalopathy (BSE) and variant CJD, a worldwide CJD surveillance network has been... ...
This study indicates the prototype blood-based variant Creutzfeldt-Jakob (vCJD) disease assay has sufficient sensitivity and specificity to support using the assay to screen for vCJD infection in prion-exposed populations.. Detection of prion infectivity in variant Creutzfeldt-Jakob disease: a blood-based assay ...
Variant Creutzfeldt-Jakob disease is almost certainly caused by the bovine spongiform encephalopathy agent, and although the disease is rare (115 deaths to date) there is uncertainty about future numbers of cases.1 The lack of a conventional immune response and the inability to detect abnormal prion protein in blood has hampered the development of a blood test.1 Lymphoreticular accumulation of prion protein has been used as a preclinical test for scrapie (the form of the disease in sheep and goats) and is a consistent feature of variant Creutzfeldt-Jakob disease, occurring before the onset of symptoms.2-4 We screened large numbers of specimens from appendicectomies and tonsillectomies for the presence of prion protein in lymphoreticular tissue to determine the number of people with preclinical variant Creutzfeldt-Jakob disease. ...
Creutzfeldt-Jakob disease (CJD) is the best known of the human prion diseases. Creutzfeldt-Jakob Disease is caused by an infectious prion protein...
Four cases of vCJD have been reported from the United States. By convention, variant CJD cases are ascribed to the country of initial symptom onset, regardless of where the exposure occurred. There is strong evidence that suggests that two of the four cases were exposed to the BSE agent in the United Kingdom and that the third was exposed while living in Saudi Arabia. The specific overseas country where the fourth patients infection occurred is less clear.. The first patient was born in the United Kingdom in the late 1970s and lived there until a move to Florida in 1992. The patient had onset of symptoms in November 2001 and died in June of 2004. The patient never donated or received blood, plasma, or organs, never received human growth hormone, nor did the patient ever have major surgery other than having wisdom teeth extracted in 2001. Additionally, there was no family history of CJD.. The second patient resided in Texas during 2001-2005. Symptoms began in early 2005 while the patient was in ...
FRIDAY, AUGUST 11, 2017 Infectivity in bone marrow from sporadic CJD patients Bioassays in transgenic mice expressing the human prion protein revealed the presence of unexpectedly high levels of infectivity in the bone marrow from seven out of eight sCJD cases. These findings may explain the presence of blood-borne infectivity in sCJD patients. They also suggest that the distribution of prion infectivity in peripheral tissues in sCJD patients could be wider than currently believed, with
Creutzfeldt-Jakob disease (CJD)-the human equivalent of mad cow disease-is caused by rogue, misfolded protein aggregates termed prions, which are infectious and cause fatal damages in the patients brain. CJD patients develop signature microscopic sponge-like holes in their brains. The initial signs of CJD include memory loss, behavior changes, movement disorder and vision problems, which usually rapidly progress to death. According to the National Institutes of Health (NIH), 90 percent of CJD patients die within one year of onset, and hundreds of Americans are diagnosed annually. There is no available treatment or cure.. There are numerous types of prion diseases in humans, and CJD is the most common. About 90 percent of CJD cases have a sporadic origin. Prion infectivity is highly concentrated in CJD patient brain tissue. Inter-personal CJD transmission has occurred after patients were exposed to surgical tools previously contaminated by CJD brain tissues.. But in a Science Translational ...
Prion diseases originate when normally harmless prion protein molecules become abnormal and gather in clusters and filaments in the body and brain. Scientists hope that early diagnosis of prion and related diseases-such as Alzheimers, Parkinsons and dementia with Lewy bodies-could lead to effective treatments that slow or prevent these diseases. Scientists from NIHs National Institute of Allergy and Infectious Diseases (NIAID) collaborated on the research with colleagues from the University of California at San Diego and UC-San Francisco.. LISTEN: Creutzfeldt-Jakob Disease (CJD) and other prion diseases. About 40 percent of sporadic CJD patients develop eye problems that could lead to an eye exam, meaning the potential exists for the contamination of eye exam equipment designed for repeat use. Further, cadaveric corneal transplants from undiagnosed CJD patients have led to two probable and three possible cases of disease transmission, the researchers say.. Previous studies have shown that the ...
Results 125 children were born to parents with a diagnosis of vCJD. Nine of these children were born to females with vCJD who were symptomatic at conception, birth or within a year of clinical onset. Only one woman was known to have breast fed her child. None of the children of vCJD cases have been referred to the National CJD Surveillance Unit as suspected vCJD and none have been classified as suffering from a progressive neurodegenerative disorder through the Progressive Intellectual and Neurological Deterioration study. One of the children has been investigated by the National Prion Unit (see accompanying case report). ...
Neena Singh, MD, PhD and colleagues at Case Western Reserve University School of Medicine have identified the first disease-specific biomarker for sporadic Creutzfeldt-Jakob disease (sCJD), a universally fatal, degenerative ...
TY - JOUR. T1 - Prion strain characterization of a novel subtype of Creutzfeldt-Jakob disease. AU - Galeno, Roberta. AU - Di Bari, Michele Angelo. AU - Nonno, Romolo. AU - Cardone, Franco. AU - Sbriccoli, Marco. AU - Graziano, Silvia. AU - Ingrosso, Loredana. AU - Fiorini, Michele. AU - Valanzano, Angelina. AU - Pasini, Giulia. AU - Poleggi, Anna. AU - Vinci, Ramona. AU - Ladogana, Anna. AU - Puopolo, Maria. AU - Monaco, Salvatore. AU - Agrimi, Umberto. AU - Zanusso, Gianluigi. AU - Pocchiari, Maurizio. PY - 2017/6/1. Y1 - 2017/6/1. N2 - In 2007, we reported a patient with an atypical form of Creutzfeldt- Jakob disease (CJD) heterozygous for methionine-valine (MV) at codon 129 who showed a novel pathological prion protein (PrPTSE) conformation with an atypical glycoform (AG) profile and intraneuronal PrP deposition. In the present study, we further characterize the conformational properties of this pathological prion protein (PrPTSE MVAG), showing that PrPTSE MVAG is composed of multiple ...
Variants of the disease may cause slightly different symptoms. Individuals affected by new variant Creutzfeldt-Jakob disease or nv-CJD typically experience psychiatric symptoms with the disease running a longer course from the initial manifestation of symptoms up until death. This form of the disease typically affects younger people.. Causes of the disease. There are different theories on what causes the disease. The currently accepted theory suggests that the disease is caused by a prion, a type of protein. Prions are usually harmless and are found within the cells of the body. There are some forms of prions that are infectious. It is believed that the normal inactive prions may, by a mechanism unknown, change into infectious prions and modify other prion proteins within the cells causing the development of the disease. The prions bond to each other forming the spongelike structures that induce brain degeneration.. Inherited CJD arises when there is a mutation within the genes that code for ...
Researchers from the University of Edinburgh have developed a new system to study Creutzfeldt-Jakob disease (CJD) in vitro. The work, funded by an NC3Rs project grant, has been published in The Journal of Experimental Medicine. CJD is a fatal neurodegenerative condition associated with misfolding of the normal form of the prion protein, similar to Bovine Spongiform Encephalopathy (BSE) in cows and Chronic Wasting Disease in deer. Until now, the main way to study the human form of the disease has been in animals, including in transgenic mice, sheep and non-human primates. These animal transmission studies are inherently variable, require large numbers of animals and can be assosiated with significant levels of suffering. The absence of a more relevant, human cell culture model which replicates human prions has hampered prion disease research. The team, led by Professor Siddharthan Chandran, has devised a new method of studying prion infection in astrocytes derived from human induced pluripotent stem
Researchers from the University of Edinburgh have developed a new system to study Creutzfeldt-Jakob disease (CJD) in vitro. The work, funded by an NC3Rs project grant, has been published in The Journal of Experimental Medicine. CJD is a fatal neurodegenerative condition associated with misfolding of the normal form of the prion protein, similar to Bovine Spongiform Encephalopathy (BSE) in cows and Chronic Wasting Disease in deer. Until now, the main way to study the human form of the disease has been in animals, including in transgenic mice, sheep and non-human primates. These animal transmission studies are inherently variable, require large numbers of animals and can be assosiated with significant levels of suffering. The absence of a more relevant, human cell culture model which replicates human prions has hampered prion disease research. The team, led by Professor Siddharthan Chandran, has devised a new method of studying prion infection in astrocytes derived from human induced pluripotent stem
Creutzfeldt-Jakob disease or CJD, (Hans Gerhard Creutzfeldt, 1885 - 1964, German psychiatrist and Alfons Maria Jakob, 1884 - 1931, German psychiatrist) (also called subacute spongiform encephalopathy), is a rare, well characterized clinicopathological entity defined by a rapidly progressing dementia associated with pathognomonic vacuolation in the cortex giving a microscopic appearance of spongiform change. Both humans and animals may be affected.
The polymorphic codon 129 of PRNP was the main genetic risk factor for vCJD; however, additional candidate loci have been identified, which justifies functional analyses of these biological pathways in prion disease.
RATIONALE FOR SURVEILLANCE: The incidence of Creutzfeldt-Jakob Disease (CJD) and its variants is not currently monitored in many parts of the world. In 1996 a new variant of CJD (nvCJD) was recognized in the United Kingdom. An etiological link has since been confirmed between nvCJD and the agent of bovine spongiform encephalopathy (BSE). The size of the population exposed and susceptible to this agent in the United Kingdom is not known; this, in addition to uncertainties relating to the potential length and distribution of the incubation period, complicate any useful prediction of the future number of nvCJD cases. Other populations may have also been exposed to the agent through importation of live cattle or cattle by-products from BSE-affected countries, or through the use of medicinal or cosmetic products containing affected bovine tissues. Global surveillance of the new variant and other forms of CJD shall lead to a better understanding of the disease, including potential causes of iatrogenic ...
Learn about Creutzfeldt-Jakob disease (CJD) causes, and read about symptoms, such as progressive dementia, insomnia, depression, and unusual sensations.
Variably protease sensitive prionopathy (VPSPr) is a recently described, sporadic human prion disease that is pathologically and biochemically distinct from the currently recognised sporadic Creutzfeldt-Jakob disease (sCJD) subtypes. The defining biochemical features of the abnormal form of the prion protein (PrPSc) in VPSPr are increased sensitivity to proteolysis and the presence of an N- and C-terminally cleaved ~8 kDa protease resistant PrPSc (PrPres) fragment. The biochemical and neuropathological profile of VPSPr has been proposed to resemble either Gerstmann-Sträussler-Scheinker syndrome (GSS) or familial CJD with the PRNP-V180I mutation. However, in some cases of VPSPr two protease resistant bands have been observed in Western blots that co-migrate with those of type 2 PrPres, suggesting that a proportion of the PrPSc present in VPSPr has properties similar to those of sCJD. Here, we have used conformation dependent immunoassay to confirm the presence of PrPSc in VPSPr that is more protease
It is sometimes forgotten that in the story of bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease there is but one incontestable fact, that bovine spongiform encephalopathy is the cause of variant Creutzfeldt-Jakob disease. First suggested by their temporospatial association and the distinctive features of variant Creutzfeldt-Jakob disease, the link has since been proved by their equally distinctive and shared biological and molecular features.1-3 All the rest is speculation, more or less plausible according to the arguments advanced and the absence of any satisfactory alternative explanations.. From an epidemiological point of view bovine spongiform encephalopathy has been a classic epidemic and will undoubtedly become a textbook example for students (fig 1). From economic, political, and medical points of view it has been an unmitigated disaster. Why did it begin when it did, and how did it happen? ...
Looking for online definition of Creutzfeldt-Jakob disease in the Medical Dictionary? Creutzfeldt-Jakob disease explanation free. What is Creutzfeldt-Jakob disease? Meaning of Creutzfeldt-Jakob disease medical term. What does Creutzfeldt-Jakob disease mean?
The initial symptoms of vCJD are more psychiatric in nature, which often leads to a misdiagnosis. The initials symptoms include depression, withdrawal, anxiety, and trouble sleeping. After a few short months the infected individual will experience muscle spasms and a lack of muscle control. As the disease rapidly progresses, patients will generally experience visual deterioration, dementia, and muscle paralysis. In contrast to traditional forms of CJD, vCJD affects younger patients, the median age being 28 years and the median duration of illness approximately 13-14 months. The majority of vCJD cases have occurred in the United Kingdom. However, a very limited number of cases have also been reported in several European countries as well as Japan, Taiwan, Saudi Arabia, Canada, and the United States ...
Looking for online definition of Variant CJD in the Medical Dictionary? Variant CJD explanation free. What is Variant CJD? Meaning of Variant CJD medical term. What does Variant CJD mean?
Creutzfeldt-Jakob disease (CJD)is a rapidly progressive, invariably fatal and untreatable neurodegenerative disease with a mean duration of about eight months. Beyond the debilitating cognitive and motor deficits that accompany CJD, the difficulty in treating behavioral and mood disturbances and the rapidity of its course compound its tragedy. Recent results from experiments show that, at physiological concentrations, the anti-malarial drug quinacrine permanently clears abnormal prion proteins from cell culture. The demonstrated efficacy of quinacrine in cell culture, its relative safety and well known side-effects in the clinical setting, and the universal fatality of CJD justify quinacrine as an immediate candidate for the treatment of CJD.. The purpose of this clinical trial is to determine the efficacy of the medication quinacrine on survival in sporadic CJD (sCJD). This will be accomplished by bringing approximately 60 patients with probable or definite sCJD over approximately three years ...
Introduction In response to both animal and public health threats resulting from transmissible spongiform encephalopaties (TSEs), such as BSE (mad cow disease) which is linked to new variant Creutzfeldt-Jakob disease in humans, the European Commission has taken a series of measures to manage the risk of TSEs. Framework Regulation 999/2001 (consolidated version published in July 2008) was adopted in May 2001, with the intention to supersede all existing TSE legislation. It established rules for the monitoring of TSE in bovine, ovine and caprine animals, the removal of Specified Risk Material (SRM) and prohibitions concerning animal feeding. It introduced measures for the eradication of TSE, rules covering intra- and extra-Community trade and criteria to classify the BSE status of member states and third countries. Certain requirements, including removal of SRMs, would then be applied to a country depending on its classification. Regulation 1923/2006 amends Regulation 999/2001 in order to adopt ...
Prion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of these diseases is thought to be associated with the conversion of a normal protein, PrPC, into an infectious, pathogenic form, PrPSc. The conversion is induced by prion infections (for example, variant Creutzfeldt-Jakob disease (vCJD), iatrogenic CJD, Kuru), mutations (familial CJD, Gerstmann-Straussler-Scheinker syndrome, fatal familial insomnia (FFI)) or unknown factors (sporadic CJD (sCJD)), and is thought to occur after PrPC has reached the plasma membrane or is re-internalized for degradation. The PrPSc form shows greater protease resistance than PrPC and accumulates in affected individuals, often in the form of extracellular plaques. Pathways that may lead to neuronal death comprise oxidative stress, regulated activation of complement, ubiquitin-proteasome and endosomal-lysosomal systems, ...
Human transmissible spongiform encephalopathies (TSEs) include the prototypic disease kuru, which is limited to Papua New Guinea and is now virtually extinct. In the event that infectivity is definitively found to be present in muscle from cattle infected with Bovine Spongiform Encephalopathy (BSE), available scientific and epidemiological evidence to date suggests that it does not appear to exist in amounts sufficient to increase the risk to human health in countries with adequate prevention and control measures. The continuance of BSE cases due to cross contamination and cross feeding of ruminant meat and bone meal (MBM) has resulted in extended feed bans which have prohibited feeding of all mammalian or animal meat and bone meal (MBM) to any animals used for human food. Humans most likely became infected with the agent that causes BSE through the consumption of beef products contaminated by central nervous systems (CNS) tissue, such as mechanically recovered meat that was pressure extracted from
Creutzfeldt-Jakob disease (CJD) is a rare, degenerative brain disorder. CJD progresses rapidly and is fatal. Learn how to prevent CJD.
ObjectiveTo describe a mother who had autopsy-proved amyotrophic lateral sclerosis and her daughter who had clinically diagnosed Creutzfeldt-Jakob disease.Desig
Introduction). Variant Creutzfeldt-Jakob disease (vCJD) was identified in 1996 as distinct from classical forms of CJD (both sporadic and familial).1 Cumulative evidence strongly supports that vCJD is zoonotically linked to bovine spongiform encephalopathy (BSE).2-4 BSE, CJD, and vCJD are transmissible spongiform encephalopathies (TSEs), a family of invariably fatal neurodegenerative diseases affecting both humans and animals.5 They are associated with the accumulation in affected brains of misfolded, protease resistant conformers (PrPres) of a normal host protein known as the prion protein. There is currently no proven prophylaxis or effective treatment for any form of CJD. The molecular structure of the infectious agent is unknown but is referred to as a prion.2,6 Soon after the recognition of vCJD, the tissue distribution of the disease-associated PrPres of the prion protein was shown to be relatively widespread, including in the peripheral lymphoreticular system, heightening concerns of ...
Human prion diseases, such as Jakob-Creutzfeldt disease (CJD), are difficult to diagnose and are of increasing public health concern due to the risk of transmission. Our dementia program is a major referral center for prion diseases in the United States with 952 potential CJD referrals over the past six years. We also are conducting the first ever US sporadic CJD (sCJD) treatment trial, sponsored by the NIH. Unfortunately, many cases of sCJD are misdiagnosed or are diagnosed too late in the course for any future potential treatment to be effective. We, and others, have shown that brain MRI has very high sensitivity and specificity for sCJD diagnosis. Unfortunately, the most widely used diagnostic criteria for sCJD, Revised 1998 WHO Criteria, are problematic for several reasons: 1. they require symptoms that often do not occur until late in the disease course; 2. they do not use MRI; 3. they use a surrogate biomarker in the spinal fluid, the 14-3-3 protein, which we have found lacks sensitivity ...
Although prion diseases, such as Creutzfeldt-Jakob disease (CJD) in humans and scrapie in sheep, have long been recognized, our understanding of their epidemiology and pathogenesis is still in its early stages. Progress is hampered by the lengthy incubation periods and the lack of effective ways of monitoring and characterizing these agents. Protease-resistant conformers of the prion protein (PrP), known as the scrapie form (PrPSc), are used as disease markers, and for taxonomic purposes, in correlation with clinical, pathological, and genetic data. In humans, prion diseases can arise sporadically (sCJD) or genetically (gCJD and others), caused by mutations in the PrP-gene (PRNP), or as a foodborne infection, with the agent of bovine spongiform encephalopathy (BSE) causing variant CJD (vCJD). Person-to-person spread of human prion disease has only been known to occur following cannibalism (kuru disease in Papua New Guinea) or through medical or surgical treatment (iatrogenic CJD, iCJD). In ...
First, some vocabulary:. vCJD - variant Creutzfeldt-Jakob Disease - the human form of mad cow disease which is transmitted by eating brain or nerve tissue from infected animals. It is always fatal; no exceptions.. BSE - Bovine spongiform encephalopathy - mad cow disease (the bovine form of the disease). Scrapie - a similar disease in sheep. Chronic wasting disease - a similar disease in deer Kuru - a similar disease that occurred in one particular tribe in New Guinea; this tribe was unusual in that they were cannibals but ate their dead relatives. (Cannibals generally eat dead enemies only.) Only the women and children ate the dead relatives. Only the women and children got the disease too. Prion - all these diseases are thought to be to be transmitted by prions which are a type of protein. [1] Prions can survive being autoclaved, heated to extremely high temperatures (way beyond what cooking would ever produce). In fact, we dont yet know any way to kill them. Transmissible spongiform ...
[...] you only have to worry about the brains, and this is head. [...] there isnt any brain in tete de veau, despite its name. [...] no one in Le Passage seemed concerned about contracting variant Creutzfeldt-Jakob disease, vCJD, the human form of bovine spongiform encephalopathy, a disease that leads to a rather gruesome death in both ruminants and people. The outbreak began in Britain around 1986, about six years after feed manufacturers changed their method of rendering unusable animal carcasses and parts into a high protein meal. Cows started falling down, twitching, and aimlessly butting their heads, victims of bovine spongiform encephalopathy, BSE. Sure enough just as I got home at the end of January, the U.S. press started picking up on the story, especially after a thousand cattle in Texas were quarantined when Purina Mills revealed that they may have mixed cow meat and bone meal into a feed supplement that was put on a wrong truck. According to Bill Niman, a grower and processor of
sCJD is the most common form of CJD.4 We report the first case diagnosed with sCJD who was enrolled in a population-based cohort study and was classified as having mild cognitive impairment during the diagnostic workup for sCJD.. sCJD is a fatal neurological disease with a large variety in symptom onset and progression. Rapid progressive cognitive decline leading to dementia is often the first clinical manifestation of sCJD. We describe the first case diagnosed with sCJD in the population-based Rotterdam Study and for whom prospective epidemiological data is available. During the patients last visit at our research centre, she had subjective cognitive complaints and, based on cognitive examinations, she also had objective cognitive impairment. Therefore, she was classified within the study as having mild cognitive impairment. At the same time, the patient was suffering from several other neurological symptoms and was referred to the neurology clinic for diagnostic workup. Given that sCJD is a ...
On Tuesday April 24 2012, the U.S. Department of Agriculture (USDA) confirmed a case of bovine spongiform encephalopathy (BSE) in a dairy cow in California. This case marks the nations fourth case of the disease.. Mad cow disease has frightened the public since it emerged in the United Kingdom in 1986. People are alarmed because eating meat from a cow with BSE can be fatal. While the disease is not well understood, we know that BSE is transmitted by feeding cattle food with meat or bone products infected by the BSE prion. Prions are abnormal proteins that can cause rare progressive neurodegenerative diseases. Human infection from BSE is believed to be the cause of variant Creutzfeldt-Jakob disease (vCJD), a fatal human disease. In response to this new US case, a South Korean retailer (South Korea is the fourth largest importer of U.S. beef) has temporarily halted sales of U.S. beef for fear of spread of the disease in humans.. Given the potential human health consequences, the case in ...
UK scientists have developed a new blood test that can diagnose cases of variant Creutzfeldt-Jakob Disease (vCJD), a rare, fatal brain disease caused by proteins known as prions. These prions are also responsible for the mad cow disease, or bovine spongiform encephalopathy (BSE). This test could in near future be used to identify contaminated blood and prevent transmission of the disease during blood transfusions, the researchers said.. ...
Commonly known as mad cow disease, BSE is a slowly progressive, incurable disease affecting the central nervous system of cattle, first diagnosed in Britain in 1986. Consumption by cattle of BSE-contaminated ruminant proteins in animal feed has been cited as one possible means of transmission. Scientists have confirmed a link between BSE in cattle and several dozen recent European cases of a human variant of BSE, Creutzfeldt-Jacob disease. More than 77,000 cattle suspected of having been exposed to the disease have been slaughtered in Great Britain, and a ban on ruminant protein-containing feeds was imposed in 1988. To date, no BSE has been found in U.S. cattle, although other BSE-like animal diseases are found in the United States, including scrapie in sheep and goats. USDA banned the importation of live cattle from Great Britain in 1989, and imposed a partial ban on using ruminant protein in animal feed in 1997 ...
Follow the journey of Amanda and her husband, Bradley, as they fight to have children free of the gene that causes Gerstmann-Straussler-Scheinker disease, a prion disease that has stalked her family for generations.
Black/white comparisons of premature mortality for public health program planning--District of Columbia. -- Update: Creutzfeldt-Jakob disease in a second patient who received a cadaveric dura mater graft. -- Deaths associated with thiamine-deficient ...
MOLECULAR BASIS OF HUMAN PRION DISEASES Molecular strain typing Molecular strain typing in the form of classifying the mobility and glycoform ratio of protease-resistant prion protein byWestern blotting is a remarkably useful adjunct to neuropathological assessment during the post-mortem diagnosis of human prion diseases (Fig. 1). The glycoform ratio difference between vCJD and all forms of sCJD is a remarkably robust phenomenon, although the mechanism underlying it remains obscure. All cases of vCJD examined show type 2B PrPres, irrespective of brain region assayed and the PrPres type is also found in lymphoreticular tissues, albeit with presumably tissue-specific minor modification of mobility and an accentuation of the glycoform ratio. Similarly sCJD cases are characterized by a narrow range of glycoform ratios, distinct from vCJD, and the presence of either type 1 or type 2 PrPres (type 1A and type 2A).The PrPres types found in the brain in iCJD and kuru resemble those found in sCJD (type 1A ...
To estimate the effect of the variability of prion disease onset on primary bovine spongiform encephalopathy transmission to humans, we studied 6 cynomolgus macaques. The preclinical incubation period was significantly prolonged in 2 animals, implying that onset of variant Creutzfeldt-Jacob disease in humans could be more diverse than previously expected.
Prions are infectious proteins that cause illness when they fold abnormally in the brain. These illnesses are sometimes called transmissible spongiform encephalopathies (TSE). The most common human prion disease is Creutzfeldt-Jakob Disease (CJD), a rare, rapidly progressive neurodegenerative disorder.
Free, official information about 2011 (and also 2012-2015) ICD-9-CM diagnosis code 046.19, including coding notes, detailed descriptions, index cross-references and ICD-10-CM conversion.
Tetanus is an eminently preventable disease, now almost wiped out in developed countries by simple immunisation. It however continues its pillage and plunder in the developing world. It strikes young and old alike, often invading the body through innocuous wounds. Tetanus is caused by tetanospasmin and tetanolysin, the deadly toxins of the bacterium Clostridium tetani. The disease is classified as generalised, localised, cephalic, or neonatal tetanus. It is characterised by painful spasms which manifest as lockjaw (trismus), facial contortions (risus sardonicus), trunkal rigidity (opisthotonus), and vocal cord spasms (laryngospasm). The disease is awfully distressing and, when advanced, untreatable. It is a stain on the world that this avoidable disorder continuous to threaten a large number of its inhabitants. Check neurochecklists for more on the pathology, clinical features, and management of tetanus.. ...
Prions have been responsible for an entire century of tragic episodes. Fifty years ago, kuru decimated the population of Papua New Guinea. Then, iatrogenic transmission of prions caused more than 250 cases of Creutzfeldt-Jakob disease. More recently, transmission of bovine spongiform encephalopathy to humans caused a widespread health scare. On the other hand, the biology of prions represents a fascinating and poorly understood phenomenon, which may account for more than just diseases and may represent a fundamental mechanism of crosstalk between proteins. The two decades since Stanley Prusiners formulation of the protein-only hypothesis have witnessed spectacular advances, and yet some of the most basic questions in prion science have remained unanswered. ...
in Journal of Molecular Biology (1997), 274(3), 381-93. The prion protein (PrPC) is a glycoprotein of unknown function normally found at the surface of neurons and of glial cells. It is involved in diseases such as bovine spongiform encephalopathy, and ... [more ▼]. The prion protein (PrPC) is a glycoprotein of unknown function normally found at the surface of neurons and of glial cells. It is involved in diseases such as bovine spongiform encephalopathy, and Creutzfeldt-Jakob disease in the human, where PrPC is converted into an altered form (termed PrPSc). PrPSc is highly resistant towards proteolytic degradation and accumulates in the central nervous system of affected individuals. By analogy with the pathological events occuring during the development of Alzheimers disease, controverses still exist regarding the relationship between amyloidogenesis, prion aggregation and neuronal loss. To unravel the mechanism of PrP neurotoxicity and understand the interaction of PrP with cellular ...
One main motivation for the study of viruses is the fact that they cause many important infectious diseases, among them the common cold, influenza, rabies, measles, many forms of diarrhea, hepatitis, Dengue fever, yellow fever, polio, smallpox and AIDS. Herpes simplex causes cold sores and genital herpes and is under investigation as a possible factor in Alzheimers. Some viruses, known as oncoviruses, contribute to the development of certain forms of cancer. The best studied example is the association between Human papillomavirus and cervical cancer: almost all cases of cervical cancer are caused by certain strains of this sexually transmitted virus. Another example is the association of infection with hepatitis B and hepatitis C viruses and liver cancer. Some subviral particles also cause disease: the transmissible spongiform encephalopathies, which include Kuru, Creutzfeldt-Jakob disease and bovine spongiform encephalopathy (mad cow disease), are caused by prions, and hepatitis D is due to ...
The occurrence of variant Creutzfeldt-Jakob (vCJD) disease in humans was almost certainly the result of consumption of food contaminated with bovine spongiform encephalopathy (BSE) prions. Despite probable widespread exposure of the UK population to BSE-contaminated food in the 1980s, vCJD has been identified predominantly in young individuals, and there have been fewer cases of clinical disease than anticipated. The reasons for this are uncertain. Following peripheral exposure, many prions replicate within the lymphoid tissues before infecting the central nervous system. We have shown that the effects of host age on the microarchitecture of the spleen significantly impair susceptibility to mouse-adapted prions after peripheral exposure. The transmission of prions between different mammalian species is considered to be limited by the species barrier, which is dependent on several factors, including an intact immune system. Thus, cross-species prion transmission may be much less efficient in ...
Creutzfeldt-Jakob Disease (CJD) is an unusual infectious disease of the human brain that leads to dementia and death. The most baffling fact about this and related diseases such as sheep scrapie and bovine spongiform encephalopathy (BSE, Mad Cow Disease) is that they appear to be triggered by a unique class of infectious agent known as a prion (protein-only infectious agent). Although CJD is a comparatively rare disease in humans (approximately 1 in a million people will contract the disease in any one year), sufferers show many of the pathological features seen in individuals suffering from other more common, non-infectious diseases of the brain such as Alzheimers Disease and Parkinsons Disease. In spite of its infectious nature, the majority of cases of human CJD (~80%) are known to occur sporadically i.e. appear spontaneously, without any evidence of the diseased individual acquiring an infectious prion from a third party, or through a mutation in the individuals genes. Prions are highly ...
The prion diseases are a large group of related neurodegenerative conditions, which affect both animals and humans. Included are Creutzfeldt-Jakob disease (CJD) and Gerstmann-Sträussler-Scheinker (GSS) in humans, bovine spongiform encephalopathy (BSE, or
Prion adalah pembawa penyakit menular yang hanya terdiri dari protein. Prion tidak dapat dimusnahkan dengan panas, radiasi, atau formalin. Prion menyebabkan berbagai penyakit degenerasi seperti kuru, scrapie, Creutzfeldt-Jakob disease (vCJD), dan bovine spongiform encephalopathy (BSE atau sapi gila). Semua penyakit ini menyerang otak atau sistem syaraf lainnya, mematikan, dan belum dapat disembuhkan. Namun sebuah vaksin telah dikembangkan untuk tikus dan sedang dikembangkan lebih lanjut untuk manusia ...
Certain of our products, including the DuraGen(R) Dural Graft products, the NeuraGen(TM) Nerve Guide, and the INTEGRA(R) Dermal Regeneration Template, contain material derived from bovine tissue. Products that contain materials derived from animal sources, including food as well as pharmaceuticals and medical devices, are increasingly subject to scrutiny in the press and by regulatory authorities. Regulatory authorities are concerned about the potential for the transmission of disease from animals to humans via those materials. This public scrutiny has been particularly acute in Japan and Western Europe with respect to products derived from cattle, because of concern that materials infected with the agent that causes bovine spongiform encephalopathy, otherwise known as BSE or mad cow disease, may, if ingested or implanted, cause a variant of the human Creutzfeldt-Jakob Disease, an ultimately fatal disease with no known cure. Recent cases of BSE discovered in Canada and the United States have ...
This might lead you to deduce that the disease is the manifestation, whereas disorder is the source. Though I would say that this is as close to a real distinction youll find, even that doesnt consistently hold up. We talk about infectious diseases though we know the etiology and pathology, and inherited diseases and disorders. Mental diseases are mostly disorders regardless of their genetics.. The truth is that nomenclature is subjective. It has something to do with history (if the person who discovers or elucidates the disorder an illness names it a disease, a disease it will tend to remain, e.g. Huntingtons disease/Crohns disease), precedent, and advances in understanding. I think there is a tendency to name things disorders today, as disease carries certain connotations. It is all very subjective.. Edited to add: no disease or disorder occurs without some change in underlying structure. Creutzfeldt-Jakob disease (closely related to Bovine Spongiform Encephalopathy - also known as Mad Cow ...
Some cases of Alzheimers disease progress quickly, mimicking prion-based Creutzfeldt-Jakob disease (CJD). Many people with this form of Alzheimers are misdiagnosed, because clinicians have no reliable way to distinguish between the two disorders. In the January 5 JAMA Neurology, researchers led by Isabelle Quadrio at Hospices Civils de Lyon, Bron, France, propose using levels of total prion protein (t-PrP) in cerebrospinal fluid (CSF) to differentiate CJD from AD. The authors found that people with prion disease had lower CSF levels of this protein than AD patients did. In a study of 209 patients with either disorder, t-PrP classified patients much more accurately than the currently accepted biomarker, 14-3-3 protein, they report. When they combined t-PrP with CSF tau, they correctly identified 96 percent of patients with atypical, fast-progressing AD in this study, as compared with 57 percent using 14-3-3 alone.. This is a very promising result that should now be validated in independent ...
August 19, 2013. By directly altering the gene coding for the prion protein (PrP), Whitehead Institute researchers have created mouse models of two neurodegenerative prion diseases, each of which manifests in different regions of the brain. These new models for fatal familial insomnia (FFI) and Creutzfeldt-Jakob disease (CJD) accurately reflect the distinct patterns of destruction caused by the these diseases in humans. Remarkably, as different as each disease is, they both spontaneously generate infectious prions.. ...
Prion diseases comprise Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome, fatal familial insomnia and ... Its aim is to diagnose and treat patients with any form of human prion disease (Creutzfeldt-Jakob disease, CJD). In addition, ... Aside from patients with Creutzfeldt-Jakob disease and other prion diseases, referrals are welcome of healthy but at-risk ... collaboration with the UK Health Protection Agency referrals are received from individuals at risk of variant Creutzfeldt-Jakob ...
PCA may also be correlated with Lewy body disease, Creutzfeldt-Jakob disease, Bálint's syndrome, and Gerstmann syndrome. In ... In rare cases, PCA can be caused by dementia with Lewy bodies and Creutzfeldt-Jakob disease. The main symptom resulting from ... Posterior cortical atrophy (PCA), also called Benson's syndrome, is a rare form of dementia which is considered a visual ... Bernard; Alexis Brice (September 2004). "Benson's syndrome or Posterior Cortical Atrophy" (PDF). Orphanet Encyclopedia. ...
Another illness that falls into the category of prions is Creutzfeldt-Jakob syndrome, a degenerative neurological disorder. ... Korsakoff's Syndrome leads to people lying compulsively, especially brain-damaged alcoholics. Back to before, the brain needs ... There are ones such as Cotard's Delusion, in which people believe that they are dead, and Capgras syndrome, in which one ... There is the Alice in Wonderland syndrome, in which the person's body feels much out of proportion and delusional bicephaly. ...
Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (FFI), Gerstmann-Sträussler-Scheinker syndrome (GSS), kuru, and ... Creutzfeldt-Jakob disease - glutamic acid-200 is replaced by lysine while valine is present at amino acid 129 Gerstmann- ... to compound risk for both Alzheimer's and sporadic Creutzfeldt-Jakob disease. A point mutation on codon 102 of PRNP at least in ... variant Creutzfeldt-Jakob disease (vCJD). Similarities exist between kuru, thought to be due to human ingestion of diseased ...
... including Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker syndrome), Alzheimer disease, and limbic and autoimmune ... "Challenging the Clinical Utility of the 14-3-3 Protein for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease". Archives of ... "Diffusion-Weighted and Fluid-Attenuated Inversion Recovery Imaging in Creutzfeldt-Jakob Disease: High Sensitivity and ... He has served as the principal investigator on studies on human prion disease and Creutzfeldt-Jacob disease. He was guest ...
Dementia types include vascular dementia, dementia with Lewy bodies, frontotemporal dementia, Korsakoff's syndrome, Creutzfeldt ... Jakob disease, HIV related cognitive impairment, mild cognitive impairment, and other rarer causes of dementia. The Alzheimer ...
Dementia types include vascular dementia, dementia with Lewy bodies, frontotemporal dementia, Korsakoff's syndrome, Creutzfeldt ... Jakob disease, HIV-related cognitive impairment, mild cognitive impairment, and other rarer causes of dementia. It is a ...
Creutzfeldt-Jakob disease, Guillain-Barré syndrome and fragile X syndrome, as well as brain tumors, low blood sugar, ... "Fragile X-Associated Tremor/Ataxia Syndrome-An Older Face of the Fragile X Gene." 2007. In Nature Clinical Practice Neurology. ... Bhidayasiri, R (2005). "Differential diagnosis of common tremor syndromes". Postgraduate Medical Journal. 81 (962): 756-62. doi ...
... creutzfeldt-jakob syndrome MeSH C10.228.140.380.230 - dementia, vascular MeSH C10.228.140.380.230.250 - dementia, multi-infarct ... creutzfeldt-jakob syndrome MeSH C10.228.228.800.260 - encephalopathy, bovine spongiform MeSH C10.228.228.800.350 - gerstmann- ... cri-du-chat syndrome MeSH C10.597.606.643.210 - de lange syndrome MeSH C10.597.606.643.220 - down syndrome MeSH C10.597.606.643 ... melas syndrome MeSH C10. - menkes kinky hair syndrome MeSH C10. - merrf syndrome MeSH ...
Creutzfeldt-Jakob disease and its variant Gerstmann-Sträussler-Scheinker syndrome Kuru Variably protease-sensitive prionopathy ... Sydenham's chorea Acute disseminated encephalomyelitis Guillain-Barré syndrome Central nervous system viral disease ... Subacute sclerosing panencephalitis Progressive multifocal leukoencephalopathy Acquired immunodeficiency syndrome (AIDS) ...
... creutzfeldt-jakob syndrome MeSH F03.087.400.350 - dementia, vascular MeSH F03.087.400.350.400 - dementia, multi-infarct MeSH ... asperger syndrome MeSH F03.550.325.125 - autistic disorder MeSH F03.550.325.412 - rett syndrome MeSH F03.550.325.700 - ... restless legs syndrome MeSH F03.870.664.635 - sleep arousal disorders MeSH F03.870.664.635.600 - night terrors MeSH F03.870. ... jet lag syndrome MeSH F03.870.400.800 - sleep disorders, intrinsic MeSH F03.870.400.800.200 - disorders of excessive somnolence ...
Creutzfeldt-Jakob disease and Fragile X syndrome. His discovery of adult mammalian central nervous system stem cells has ...
Pearce The Man Behind the Syndrome by Greta Beighton Creutzfeldt-Jakob disease at Who Named It Alfons Maria Jakob - ... Creutzfeldt-Jakob disease: A very rare and incurable degenerative neurological disease. It is the most common form of ... He first recognised and described Alper's disease and Creutzfeldt-Jakob disease (named along with Munich neuropathologist Hans ... Jakob made a lecture tour of the United States (1924) and South America (1928), of which, he wrote a paper on the ...
TSEs of humans include Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker syndrome, fatal familial insomnia, kuru, as ... Classic Creutzfeldt-Jakob disease (CJD) was discovered in 1920. It occurs sporadically over the world but is very rare. It ... Variant Creutzfeldt-Jakob disease (vCJD) was discovered in 1996 in England. There is strong evidence to suggest that vCJD was ... Creutzfeldt-Jakob disease itself has four main forms, the sporadic (sCJD), the hereditary/familial (fCJD), the iatrogenic (iCJD ...
Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) PXMP4: encoding protein Peroxisomal ... Albright's hereditary osteodystrophy Arterial tortuosity syndrome Adenosine deaminase deficiency Alagille syndrome Fatal ... Alagille syndrome) JPH2: encoding protein Junctophilin 2 KIZ: encoding protein Kizuna centrosomal protein Kua-UEV: LIME1: ... Waardenburg syndrome G-banding ideograms of human chromosome 20 "Human Genome Assembly GRCh38 - Genome Reference Consortium". ...
The investigation into the cluster was instigated in 2019 at the federal level by the Ottawa-based Creutzfeldt-Jakob Disease ... Coulthart, M. B.; Cashman, N. R. (2001). "Variant Creutzfeldt-Jakob disease: A summary of current scientific knowledge in ... Vlessides, Michael (25 March 2021). "Canadians Investigating Outbreak of Creutzfeldt-Jakob Lookalike". Medscape. Retrieved 4 ... including Creutzfeldt-Jakob Disease (CJD) - an incurable, fatal disease. Marrero and Coulthart and colleagues worked for months ...
"Alice in Wonderland Syndrome as a Presenting Manifestation of Creutzfeldt-Jakob Disease". Frontiers in Neurology. 10: 473. doi: ... The syndrome is sometimes called Todd's syndrome, in reference to a description of the condition in 1955 by Dr. John Todd (1914 ... Alice in Wonderland syndrome (AIWS), also known as Todd's syndrome or dysmetropsia, is a neuropsychological condition that ... "What Is Alice in Wonderland Syndrome?". WebMD. Retrieved 2018-09-06. Hemsley R (2017). "Alice in Wonderland Syndrome". aiws. ...
... a variant of Creutzfeldt-Jakob disease. They studied at the University of Jena, and the University of Vienna, graduating in ... The persecution of the men behind the syndrome". Neurology. 83 (3): 272-277. doi:10.1212/WNL.0000000000000606. ISSN 0028-3878. ... who in 1936 collaborated with Josef Gerstmann and Ernst Sträussler to describe Gerstmann-Sträussler-Scheinker syndrome, ...
... arteritis Craniosynostosis Creutzfeldt-Jakob disease Cumulative trauma disorders Cushing's syndrome Cyclic vomiting syndrome ... 15 Joubert syndrome Karak syndrome Kearns-Sayre syndrome Kinsbourne syndrome Kleine-Levin syndrome Klippel Feil syndrome Krabbe ... Febrile seizures Fisher syndrome Fibromyalgia Foville's syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome ... syndrome Shingles Shy-Drager syndrome Sjögren's syndrome Sleep apnea Sleeping sickness Slurred speech Snatiation Sotos syndrome ...
Myoclonus (spasmodic muscle contraction) is less frequently seen than in Creutzfeldt-Jakob disease. Many patients also exhibit ... pure dementia GSS and Creutzfeldt-Jakob disease-like GSS. GSS is part of a group of diseases called transmissible spongiform ... Rare syndromes, Syndromes affecting the nervous system, Transmissible spongiform encephalopathies). ... Gerstmann-Sträussler-Scheinker syndrome (GSS) is an extremely rare, usually familial, fatal neurodegenerative disease that ...
Progressive multifocal leukoencephalopathy and Creutzfeldt-Jakob disease have also been found to cause this kind of damage. ... The validity of Bálint's syndrome has been questioned by some.[by whom?] The components in the syndrome's triad of defects ( ... Therefore, clinicians should be familiar with Bálint's syndrome and its various etiologies. Bálint's syndrome symptoms can be ... Bálint's syndrome occurs most often with an acute onset as a consequence of two or more strokes at more or less the same place ...
Creutzfeldt-Jakob disease, SARS (Severe Acute Respiratory Syndrome)... Alain-Jacques Valleron has always placed his research at ...
The human prion disease variant Creutzfeldt-Jakob disease, however, is thought to be caused by a prion that typically infects ... Gerstmann-Sträussler-Scheinker syndrome (GSS), fatal familial insomnia (FFI), and kuru. There is also evidence suggesting ... Sutton JM, Dickinson J, Walker JT, Raven ND (September 2006). "Methods to minimize the risks of Creutzfeldt-Jakob disease ... In humans, prions are believed to be the cause of Creutzfeldt-Jakob disease (CJD), its variant (vCJD), ...
CADASIL syndrome, depression, Alzheimer's disease, Chagas disease, Creutzfeldt-Jakob disease, dementia (and dementias such as ... Marin argues that apathy is a syndrome associated with many different brain disorders. This has now been shown to be the case ... Diminished sensitivity to reward may be a key component of the syndrome in Parkinson's disease. While apathy and anxiety may ... It is also known to be a distinct psychiatric syndrome that is associated with many conditions, some of which are: ...
Arthritis Creutzfeldt-Jakob disease Dystonia Depression Fragile X-associated tremor/ataxia syndrome Frontotemporal dementia and ... The dopamine dysregulation syndrome - with wanting of medication leading to overuse - is a rare complication of levodopa use. ... Parkinson-plus syndromes, such as progressive supranuclear palsy and multiple system atrophy, must also be considered and ruled ... Other Parkinson-plus syndromes involve tau, rather than alpha-synuclein. These include progressive supranuclear palsy (PSP) and ...
... corticobasal degeneration and Creutzfeldt-Jakob disease. Other areas of the brain that are associated with alien hand syndrome ... Alien hand syndrome (AHS) or Dr. Strangelove syndrome is a category of conditions in which a person experiences their limbs ... Apraxia and Related Syndromes at eMedicine Kischka, U; Ettlin, TM; Lichtenstern, L; Riedo, C (1996). "Alien hand syndrome of ... Strangelove syndrome" was suggested as the official name for AHS. This was not approved, though it is sometimes used as an ...
Alzheimer's disease Pick's disease with Pick bodies Lewy body dementias Neurofilament inclusion body disease Creutzfeldt-Jakob ... Corticobasal syndrome (CBS) is a rare, progressive atypical Parkinsonism syndrome and is a tauopathy related to frontotemporal ... Corticobasal syndrome, Cognitive disorders, Neurodegenerative disorders, Rare syndromes). ... May 2019). "Corticobasal syndrome: neuroimaging and neurophysiological advances". Eur. J. Neurol. 26 (5): 701-e52. doi:10.1111/ ...
Creutzfeldt-Jakob disease Diffuse Lewy Body disease Huntington's disease Multiple sclerosis Normal pressure hydrocephalus ... Organic brain syndrome, also known as organic brain disease, organic brain disorder, organic mental syndrome, or organic mental ... "Organic brain syndrome". MedlinePlus. Khan A, Joyce P, Jones AV (August 1980). "Benzodiazepine withdrawal syndromes". N. Z. Med ... "Neurocognitive Disorders (Organic Brain Syndrome)". 16 July 2012. "MedlinePlus Medical Encyclopedia: Organic brain syndrome". ...
... he described a rare prion disease that is usually regarded as a variant of Creutzfeldt-Jakob disease. Today this condition is ... known as Gerstmann-Sträussler-Scheinker syndrome (GSS). Anlage- und Bildungsfehler des Centralnervensystems, Anlagekrankheiten ...
... and Creutzfeldt-Jakob disease. In a small study of 5 retired NFL players with cognitive and mood symptoms, the PET scans ... CTE was originally studied in boxers in the 1920s as "punch-drunk syndrome." Punch-drunk syndrome was first described in 1928 ... Differentiating between prolonged post-concussion syndrome (PCS, where symptoms begin shortly after a concussion and last for ... and punch-drunk syndrome. The seminal work on the disease came from British neurologist Macdonald Critchley, who in 1949 wrote ...
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
Creutzfeldt-Jakob disease Cri du chat Crigler-Najjar syndrome Crisponi syndrome Criss cross syndrome Criswick-Schepens syndrome ... CCA syndrome Ccge syndrome CCHS CDG syndrome CDG syndrome type 1A CDG syndrome type 1B CDG syndrome type 1C CDG syndrome type 2 ... syndrome Coffin-Siris syndrome COFS syndrome Cogan-Reese syndrome Cogan syndrome Cohen-Gibson syndrome Cohen-Hayden syndrome ... syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Cockayne's syndrome Codas syndrome Codesette syndrome Coeliac ...
... abnormalities seen in the SPECT images are very similar to those seen in people with cerebral vacuities and Creutzfeldt-Jakob ... Garin-Bujadoux syndrome, Bannwarth syndrome, Afzelius's disease, Montauk Knee or sheep tick fever. Since 1976 the disease is ... In this syndrome, radicular pain tends to start in the same body region as the initial erythema migrans rash, if there was one ... The full syndrome now known as Lyme disease was not recognized until a cluster of cases originally thought to be juvenile ...
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ...
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
CAV3 Creutzfeldt-Jakob disease; 123400; PRNP Crigler-Najjar syndrome type I; 218800; UGT1A1 Crigler-Najjar syndrome type II; ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
"Variant Creutzfeldt-Jakob Disease Diagnosed 7.5 Years after Occupational Exposure". New England Journal of Medicine. 383 (1): ... "SARS (Severe Acute Respiratory Syndrome)". www.cdc.gov.tw. "SARS escaped Beijing lab twice". The Scientist Magazine®. "Russian ...
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
"Creutzfeldt-Jakob disease in the UK" (PDF). The National CJD Research & Surveillance Unit, University of Edinburgh. 4 March ... The WHO region of the Americas declared on 29 April 2015 it had eliminated rubella and congenital rubella syndrome. The last ... Following an epidemic of variant Creutzfeldt-Jakob disease (vCJD) in the UK in the 1990s, there have been campaigns to ... the WHO regions of Africa and South-East Asia have the highest rates of congenital rubella syndrome and a 2013 outbreak of ...
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
The prion causing mad cow disease and Creutzfeldt-Jakob disease invariably kills all animals and people that are infected. ... E.g. HIV, Rhinovirus, Lyssaviruses such as Rabies virus, Ebolavirus and Severe acute respiratory syndrome coronavirus 2) Fungi ...
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
Sporadic Creutzfeldt-Jakob disease SCM - (i) Surface Contamination Module SCMODS - (s) State, County, Municipal Offender Data ... severe acute respiratory syndrome (i) = initialism, e.g.: CD - (i) compact disc (p) = pseudo-blend, e.g.: UNIFEM - (p) United ... Sudden infant death syndrome SIDU - (i) select, insert, delete, update. See Create, read, update and delete SIF - (i) Selective ... severe acute respiratory syndrome, pronounced to rhyme with cars initialism = an abbreviation pronounced wholly or partly using ...
Poisonous hemlock (conium) has medicinal uses.[citation needed] Prions, resulting in Creutzfeldt-Jakob disease (CJD) and its ... Most common bacterial foodborne pathogens are: Campylobacter jejuni which can lead to secondary Guillain-Barré syndrome and ... a measure designed to lessen the risk of infection by variant Creutzfeldt-Jakob disease. The petition was supported by the ... pulmonary edema syndrome (PES) in pigs, liver cancer in rats and esophageal cancer in humans. For human and animal health, both ...
The epidemic likely started when a villager developed sporadic Creutzfeldt-Jakob disease and died. When villagers ate the brain ... Zigas, Vincent; Gajdusek, Daniel (23 November 1957). "Kuru: Clinical study of a new syndrome resembling paralysis agitans of ... such as Creutzfeldt-Jakob disease and Alzheimer's disease. Kuru was first described in official reports by Australian officers ... Creutzfeldt-Jakob Disease, and Scrapie to Nonhuman Primates". The Journal of Infectious Diseases. 142 (2): 205-208. doi:10.1093 ...
Obi, T; Takatsu M; Kitamoto T; Mizoguchi K; Nishimura Y (1996). "A case of Creutzfeldt-Jakob disease (CJD) started with ... In herniation syndrome, which is indicative of brain herniation, decorticate posturing occurs, and, if the condition is left ... Posturing has also been displayed by patients with Creutzfeldt-Jakob disease, diffuse cerebral hypoxia, and brain abscesses. It ... However, Reye's syndrome and traumatic brain injury can both cause decorticate posturing in children. For reasons that are ...
... a risk factor due to concerns about Creutzfeldt-Jakob disease. Cerebellar tonsillar ectopia, or Chiari, is a condition that was ... such as Marfan syndrome and Ehlers-Danlos syndrome. These conditions are sometimes found in conjunction with Arnold-Chiari ...
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
Rapport de l atelier de travail OMS sur la surveillance de la maladie de Creutzfeldt-Jakob (‎MCJ)‎ et les autres ence ... Promising approaches for a serum diagnostic test in Creutzfeldt-Jakob disease : reports on individual drugs  ... WHO Consultation on Clinical and Neuropathological Characteristics of the New Variant of Creutzfeldt-Jakob Disease and Other ... santé publique et caractéristiques cliniques et neuropathologiques de la nouvelle variante de la maladie de Creutzfeldt-Jakob ...
Rapport de l atelier de travail OMS sur la surveillance de la maladie de Creutzfeldt-Jakob (‎MCJ)‎ et les autres ence ... Promising approaches for a serum diagnostic test in Creutzfeldt-Jakob disease : reports on individual drugs  ... WHO Consultation on Clinical and Neuropathological Characteristics of the New Variant of Creutzfeldt-Jakob Disease and Other ... santé publique et caractéristiques cliniques et neuropathologiques de la nouvelle variante de la maladie de Creutzfeldt-Jakob ...
Drug-induced Creutzfeldt-Jakob disease-like syndrome: early CSF analysis as useful tool for differential diagnosis ... Drug-induced Creutzfeldt-Jakob disease-like syndrome: early CSF analysis as useful tool for differential diagnosis ...
Creutzfeldt-Jakob disease (CJD) is a rare, degenerative brain disorder. CJD progresses rapidly and is fatal. Learn how to ... ClinicalTrials.gov: Creutzfeldt-Jakob Syndrome (National Institutes of Health) * ClinicalTrials.gov: Prion Diseases (National ... Creutzfeldt-Jakob Disease (Alzheimers Association) * Creutzfeldt-Jakob Disease (National Institute of Neurological Disorders ... Diagnosing Sporadic Creutzfeldt-Jakob Disease: Accuracy of CSF 14-3-3 Protein Test of the Spinal Fluid (American Academy of ...
Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. Biochem Biophys Res ... The authors thank members of the Creutzfeldt-Jakob Disease Surveillance Committee, Creutzfeldt-Jakob disease specialists, ... MRI and clinical syndrome in dura mater-related Creutzfeldt-Jakob disease. J Neurol. 2009;256:355-63. DOIPubMedGoogle Scholar ... Ishida C, Kakishima A, Okino S, Furukawa Y, Kano M, Oda Y, et al. Sporadic Creutzfeldt-Jakob disease with MM1-type prion ...
Results of search for ccl=su:{Veterinary Public Health and Zoonoses} and su-to:Creutzfeldt-Jakob syndrome and location:ONLINE- ... WHO manual for surveillance of human transmissible spongiform encephalopathies, including variant Creutzfeldt-Jakob disease. by ...
Categories: Creutzfeldt-Jakob Syndrome Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
Creutzfeldt-Jakob Syndrome 87% * Posterior Thalamic Nuclei 12% * Bovine Spongiform Encephalopathy 10% ... FLAIR MRI in sporadic Creutzfeldt-Jakob disease. Zeidler, M., Collie, D. A., Macleod, M. A., Sellar, R. J., Knight, R. & Sellar ... MRI of Creutzfeldt-Jakob disease: imaging features and recommended MRI protocol. Collie, D. A., Sellar, R. J., Zeidler, M., ... The pulvinar sign and diagnosis of Creutzfeldt-Jakob disease. Summers, D. M., Collie, D. A., Sellar, R. J., Zeidler, M., Knight ...
Jakob-Creutzfeldt disease (syndrome) 046.19. *. with behavioral disturbance 046.19. [294.11. ]. *. without behavioral ... Jakob-Creutzfeldt 046.19. *. with behavioral disturbance 046.19. [294.11. ]. *. without behavioral disturbance 046.19. [294.10 ...
Creutzfeldt-Jakob disease [CJD], Gerstmann-Sträussler-Scheinker [GSS] syndrome, fatal familial insomnia [FFI]). The infectious ... What are the types of cryopyrin-associated periodic syndrome (CAPS)?. How is cryopyrin-associated periodic syndrome (CAPS) ... as well as Mad Cow Disease and Variant Creutzfeldt-Jakob Disease. ... Carpal tunnel syndrome can be the presenting sign of primary or ... Cryopyrin-associated periodic syndrome (CAPS)-associated amyloidosis. Types of CAPS include the following:. * Familial cold ...
Creutzfeldt-Jakob disease [CJD], Gerstmann-Sträussler-Scheinker [GSS] syndrome, fatal familial insomnia [FFI]). The infectious ... What are the types of cryopyrin-associated periodic syndrome (CAPS)?. How is cryopyrin-associated periodic syndrome (CAPS) ... as well as Mad Cow Disease and Variant Creutzfeldt-Jakob Disease. ... Carpal tunnel syndrome can be the presenting sign of primary or ... Cryopyrin-associated periodic syndrome (CAPS)-associated amyloidosis. Types of CAPS include the following:. * Familial cold ...
... and similar ones characterize other neurological syndromes such as Parkinsons and Creutzfeldt-Jakobs. ...
Creutzfeldt-Jakob Syndrome Medicine & Life Sciences 100% * Prion Proteins Medicine & Life Sciences 94% ... Characterization of truncated forms of abnormal prion protein in Creutzfeldt-Jakob disease. In: Journal of Biological Chemistry ... Characterization of truncated forms of abnormal prion protein in Creutzfeldt-Jakob disease. Journal of Biological Chemistry. ... We characterized a novel protease-resistant PrP fragment migrating 2-3 kDa faster than PrP27-30 in Creutzfeldt-Jakob disease ( ...
Korsakoff syndrome - learn about symptoms, treatments and causes, including alcohol misuse, and how this memory disorder ... Read more: Creutzfeldt-Jakob Disease. Read more: Caregiving. Read more: Dementia with Lewy Bodies ... Korsakoff syndrome is a chronic memory disorder caused by severe deficiency of thiamine (vitamin B-1). Korsakoff syndrome is ... alcohol use and pattern of memory problems may be consistent with Korsakoff syndrome. For those who develop Korsakoff syndrome ...
Creutzfeldt-Jakob Syndrome --complications. -. dc.subject.mesh. Creutzfeldt-Jakob Syndrome -diagnosis. -. dc.subject.mesh. ... Fulminant Sporadic Creutzfeldt Jakob Disease with a rare Presentation of Psychosis. Delhi Psychiatry journal. 2012 Oct; 15(2): ... Fulminant Sporadic Creutzfeldt Jakob Disease with a rare Presentation of Psychosis.. en_US. ... Creutzfeldt-Jakob Syndrome --drug therapy. -. dc.subject.mesh. Creutzfeldt-Jakob Syndrome --psychology. - ...
Creutzfeldt-Jakob Syndrome F3.87.400.300 F3.615.400.300 Crimean War I1.880.735.950.250.469 Croatia Z1.586.980.295 Cromakalim ... Munchausen Syndrome F3.400.600 F3.875.375.600 Munchausen Syndrome by Proxy F3.400.800 F3.875.375.800 Mupapillomavirus B4.280. ... Wiskott-Aldrich Syndrome C20.673.972 Withanolides D10.570.938.795.287.888 Wolfram Syndrome C16.131.77.951 Wood A18.700.888 ... Lesch-Nyhan Syndrome C10.574.500.536 C16.320.400.500 Lethal Dose 50 G7.690.520 G7.225.500 G7.690.773.875.750 G7.690.936.500.750 ...
Creutzfeldt-Jakob Syndrome Medicine & Life Sciences 100% * Sporadic Creutzfeldt-Jakob Disease Medicine & Life Sciences 88% ... Psychiatric manifestations of Creutzfeldt-Jakob disease: A 25-year analysis. Christopher A. Wall, Teresa A. Rummans, Allen J. ... Psychiatric manifestations of Creutzfeldt-Jakob disease : A 25-year analysis. / Wall, Christopher A.; Rummans, Teresa A.; ... Psychiatric manifestations of Creutzfeldt-Jakob disease: A 25-year analysis. Journal of Neuropsychiatry and Clinical ...
However, BSE is also heavily linked to the human condition of Creutzfeldt-Jakob Syndrome, therefore again making the wider ...
Creutzfeldt-Jakob Syndrome 1 0 Note: The number of publications displayed in this table will differ from the number displayed ...
Animals, Case-Control Studies, Cattle, Creutzfeldt-Jakob Disease, Creutzfeldt-Jakob Syndrome/*epidemiology/*etiology/genetics, ... Risk factors for Creutzfeldt-Jakob disease: a reanalysis of case-control studies.. Publication. Publication. Neurology , Volume ... To review the evidence for risk factors of Creutzfeldt-Jakob disease (CJD), we pooled and reanalyzed the raw data of three case ... Risk factors for Creutzfeldt-Jakob disease: a reanalysis of case-control studies. Neurology, 46, 1287-1291. Retrieved from http ...
177 people died after contracting variant Creutzfeldt-Jakob disease, whom are believed to have been caused by eating cattle ... Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI). 10-15% of these disorders are caused by ... causing the disease.The Variant Creutzfeldt-Jakob disease is an example of an acquired disease because it can be obtained from ... Gerstmann-Straussler-Scheinker disease and the variant Creutzfeldt-Jakob disease, which is believed to be caused by the ...
Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. Biochem Biophys Res ... The authors thank members of the Creutzfeldt-Jakob Disease Surveillance Committee, Creutzfeldt-Jakob disease specialists, ... MRI and clinical syndrome in dura mater-related Creutzfeldt-Jakob disease. J Neurol. 2009;256:355-63. DOIPubMedGoogle Scholar ... Ishida C, Kakishima A, Okino S, Furukawa Y, Kano M, Oda Y, et al. Sporadic Creutzfeldt-Jakob disease with MM1-type prion ...
Occipital Lobe, Animals, Cattle, Humans, Creutzfeldt-Jakob Syndrome, Encephalopathy, Bovine Spongiform, Prions, Retrospective ... The first case of variant Creutzfeldt-Jakob disease in The Netherlands. Sánchez-Juan P., Houben MPWA., Hoff JI., Jansen C., Sie ...
... plays a central role in the origin of Creutzfeldt-Jakob disease (CJD), but there is growing interest in other polymorphisms ... Adult, Aged, Aged, 80 and over, Alleles, Amino Acid Substitution, Creutzfeldt-Jakob Syndrome, Female, GPI-Linked Proteins, Gene ... Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease. ... The prion protein gene (PRNP) plays a central role in the origin of Creutzfeldt-Jakob disease (CJD), but there is growing ...
These inherited forms include Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. Death records are a good ... Creutzfeldt-Jakob Disease Deaths and Age-Adjusted Death Rate, United States, 1979-2020*. Year. Deaths (approximate). Age- ... Creutzfeldt-Jakob disease deaths and age-adjusted death rate, United States, 1979-2020*. ...
Creutzfeldt-Jakob Syndrome 1 0 Tobacco Use Disorder 1 0 Note: The number of publications displayed in this table will differ ...
Jacob Disease, Creutzfeldt Jakob Creutzfeldt Disease Jakob Creutzfeldt Syndrome Jakob-Creutzfeldt Disease Jakob-Creutzfeldt ... Jakob Creutzfeldt Syndrome. Jakob-Creutzfeldt Disease. Jakob-Creutzfeldt Syndrome. New Variant Creutzfeldt Jakob Disease. New ... Creutzfeldt-Jakob Disease) Creutzfeldt Jacob Disease Creutzfeldt Jakob Disease Creutzfeldt Jakob Syndrome Creutzfeldt-Jakob ... Syndrome, Creutzfeldt-Jakob. Syndrome, Jakob-Creutzfeldt. V CJD (Variant Creutzfeldt Jakob Disease). V-CJD (Variant-Creutzfeldt ...
Creutzfeldt-Jakob Syndrome Medicine & Life Sciences 44% * Physiological Stress Medicine & Life Sciences 40% ...
Creutzfeldt-Jakob Syndrome Medicine & Life Sciences 22% * Human Growth Hormone Medicine & Life Sciences 21% ... The identification of Creutzfeldt-Jacob disease in individuals who received pituitary-derived GH led to heightened surveillance ... The identification of Creutzfeldt-Jacob disease in individuals who received pituitary-derived GH led to heightened surveillance ... The identification of Creutzfeldt-Jacob disease in individuals who received pituitary-derived GH led to heightened surveillance ...
  • Creutzfeldt-Jakob disease (CJD) is a rare, degenerative brain disorder . (medlineplus.gov)
  • We previously reported a phenotype of Creutzfeldt-Jakob disease (CJD), CJD-MMiK, that could help identify iatrogenic CJD. (cdc.gov)
  • For patient education information, see the Brain and Nervous System Center , as well as Mad Cow Disease and Variant Creutzfeldt-Jakob Disease . (medscape.com)
  • We characterized a novel protease-resistant PrP fragment migrating 2-3 kDa faster than PrP27-30 in Creutzfeldt-Jakob disease (CJD) brains. (elsevier.com)
  • IMSEAR at SEARO: Fulminant Sporadic Creutzfeldt Jakob Disease with a rare Presentation of Psychosis. (who.int)
  • This study characterizes the type and timing of psychiatric manifestations in sporadic Creutzfeldt-Jakob disease (sCJD). (elsevier.com)
  • RePub, Erasmus University Repository: Risk factors for Creutzfeldt-Jakob disease: a reanalysis of case-control studies. (eur.nl)
  • To review the evidence for risk factors of Creutzfeldt-Jakob disease (CJD), we pooled and reanalyzed the raw data of three case-control studies. (eur.nl)
  • Other well known prion diseases are Kuru, which is a disease found among New Guinea natives, Gerstmann-Straussler-Scheinker disease and the variant Creutzfeldt-Jakob disease, which is believed to be caused by the ingestion of products tainted with BSE. (kenyon.edu)
  • The most common type of Prion Diseases afflicting humans are Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI). (kenyon.edu)
  • The first case of variant Creutzfeldt-Jakob disease in The Netherlands. (ox.ac.uk)
  • Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease. (ox.ac.uk)
  • The prion protein gene (PRNP) plays a central role in the origin of Creutzfeldt-Jakob disease (CJD), but there is growing interest in other polymorphisms that may be involved in CJD. (ox.ac.uk)
  • The identification of Creutzfeldt-Jacob disease in individuals who received pituitary-derived GH led to heightened surveillance for safety issues related to recombinant human GH (rhGH). (elsevier.com)
  • Ingestion of meat products from animals infected with BSE has resulted in transmission of the disease to humans as a variant form of Creutzfeldt-Jakob Disease (vCJD). (elsevier.com)
  • The only variant Creutzfeldt-Jakob disease (vCJD) patient identified in the United States died in 2004, and the diagnosis was confirmed by analysis of autopsy tissue. (cdc.gov)
  • Variant Creutzfeldt-Jakob disease (vCJD) was first reported in 1996 in the United Kingdom and has been causally linked to eating cattle products contaminated with the bovine spongiform encephalopathy (BSE) agent ( 1 - 3 ). (cdc.gov)
  • Histopathologic changes in frontal cerebral cortex of the patient who died of variant Creutzfeldt-Jakob disease in the United States. (cdc.gov)
  • Possible transmission of variant Creutzfeldt-Jakob disease by blood transfusion. (notifylibrary.org)
  • In addition to Alzheimer's Disease other causes of dementia in older people are multi-infarct dementia which is caused by a series of strokes (as many as 40% of case of dementia are due to this syndrome), Creutzfeldt-Jakob disease, normal pressure hydrocephalus, Pick's disease, Parkinson's disease, Lewy body disease, and Huntington's disease. (medicine-opera.com)
  • Creutzfeldt-Jakob Disease (CJD) is a very rare and incurable brain disease that is ultimately fatal. (academickids.com)
  • A new variant of the disease (usually called just variant Creutzfeldt-Jakob Disease (vCJD) but sometimes new variant Creutzfeldt-Jakob Disease (nvCJD) ) is distinguished from the classical type by its early onset (usually in the 20s) and a predominance of psychiatric and sensory symptoms. (academickids.com)
  • In humans, prion diseases include classic and sporadic Creutzfeldt-Jakob disease (CJD) among other syndromes. (vantrumpreport.com)
  • In March 1996, the United Kingdom's Spongiform Encephalopathy Advisory Committee (SEAC) announced the identification of 10 cases of variant Creutzfeldt-Jakob disease (vCJD) in people believed to have contracted it by consuming contaminated beef products. (vantrumpreport.com)
  • Creutzfeldt-Jakob Disease (CJD), Kuru and Gerstmann-Strausler-Sheinker syndrome in humans. (majordifferences.com)
  • The 14-3-3 protein is a marker for some prion diseases, such as Creutzfeldt-Jakob disease (CJD), when a number of other neurodegenerative conditions are excluded. (case.edu)
  • The human forms of prion disease are most often the names Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (FFI), Gertsmann-Straussler-Scheinker syndrome (GSS), kuru and variably protease-sensitive prionopathy (VPSPr). (holidaymountainmusic.com)
  • Misfolded prions can act as infectious agents and have been linked to brain diseases such as human Creutzfeldt-Jakob disease and mad cow disease (bovine spongiform encephalopathy). (holidaymountainmusic.com)
  • The most common form of prion disease that affects humans is Creutzfeldt-Jakob disease (CJD). (holidaymountainmusic.com)
  • Prions are infectious and cause neurodegenerative diseases such as scrapie in animals and Creutzfeldt-Jakob disease in humans. (holidaymountainmusic.com)
  • Identified Prion DiseasesCreutzfeldt-Jakob Disease (CJD)Variant Creutzfeldt-Jakob Disease (vCJD)Gerstmann-Straussler-Scheinker Syndrome.Fatal Familial Insomnia.Kuru. (holidaymountainmusic.com)
  • FFI is in a class of neurological diseases caused by prions (( Creutzfeldt-Jakob disease and its bovine equivalent, Mad Cow disease are other examples). (goinggentleintothatgoodnight.com)
  • To date, the only prion disease that has sporadic incidences is Creutzfeldt-Jakob disease . (goinggentleintothatgoodnight.com)
  • FFI, along with Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker Syndrome (GSS) , fall into this type of prion disease. (goinggentleintothatgoodnight.com)
  • Our study demonstrated that hyperactivity syndrome is related to hypoconnected default-mode network in Alzheimer's disease. (psychiatryinvestigation.org)
  • A recent study examined the relationship between resting functional connectivity and NPS in patients with Alzheimer's disease, and it has shown that functional connectivity between the anterior cingulate cortex and the insula was associated with hyperactivity syndrome including agitation and disinhibition [ 14 ]. (psychiatryinvestigation.org)
  • Other diseases - progressive supranuclear palsy, Korsakoff's syndrome, Binswanger's disease, HIV and AIDS, and Creutzfeldt-Jakob disease (CJD). (draggarwal.org)
  • Alzheimer's disease is a form of cortical dementia, as is CJD (Creutzfeldt-Jakob disease). (draggarwal.org)
  • Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease. (ox.ac.uk)
  • To validate the provisional findings of a number of smaller studies and explore additional determinants of characteristic diagnostic investigation results across the entire clinical spectrum of sporadic Creutzfeldt-Jakob disease (CJD), an international collaborative study was undertaken comprising 2451 pathologically confirmed (definite) patients. (ox.ac.uk)
  • and variant, familial and sporadic Creutzfeldt Jakob disease (CJD). (mybestmedicine.com)
  • Objective To use a robust statistical methodology to develop and validate clinical rating scales quantifying longitudinal motor and cognitive dysfunction in sporadic Creutzfeldt-Jakob disease (sCJD) at the bedside. (bmj.com)
  • The median clinical duration from symptom onset in sporadic Creutzfeldt-Jakob disease (sCJD) is 4 months, although disease courses ranging from short weeks to several years are recognised. (bmj.com)
  • The most characteristic are frontotemporal degeneration spectrum disorders, but Alzheimer disease and rare disorders such as Creutzfeldt-Jakob disease, CNS Whipple disease, and Niemann-Pick disease type C can be associated with corticobasal syndrome. (medscape.com)
  • The human form of Mad Cow is Creutzfeldt-Jakob disease (CJD). (alzheimerdisease.tv)
  • Other kinds of dementia include Huntington's disease, Parkinson's disease, and Creutzfeldt-Jakob disease. (thehealthfact.com)
  • 1] They defined four clinical phenotypes associated with CBD pathology based on these data: (1) Corticobasal syndrome, (2) Frontal behavioral-spatial syndrome (FBS), (3) Nonfluent/agrammatic variant of primary progressive aphasia (naPPA), and (4) Progressive supranuclear palsy syndrome (PSPS). (medscape.com)
  • These inherited forms include Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. (cdc.gov)
  • Both symptoms are diagnostic of Alzheimer's, and similar ones characterize other neurological syndromes such as Parkinson's and Creutzfeldt-Jakob's. (rationaloptimist.com)
  • Dementia is a non-specific syndrome in which affected areas of brain function may be affected, such as memory, language, problem solving and attention. (draggarwal.org)
  • The most common phenotype-corticobasal syndrome (CBS)-is defined by progressive dementia and typically asymmetric parkinsonism unresponsive to dopaminergic therapy, dystonia, limb apraxia, and myoclonus, but these may occur as a result of a number of other pathologic entities. (medscape.com)
  • seed radius=3 mm) for the posterior DMN We then correlated the scores on neuropsychiatric inventory syndromes (apathy, hyperactivity, affective, and psychosis syndrome) with maps of connectivity in the default-mode network. (psychiatryinvestigation.org)
  • Researchers have identified several genetic variations that may increase susceptibility to Korsakoff syndrome. (alz.org)
  • However, BSE is also heavily linked to the human condition of Creutzfeldt-Jakob Syndrome, therefore again making the wider issue of BSE something that straddles several areas within the health, medical and life sciences. (ariadne.ac.uk)
  • Korsakoff syndrome is often - but not always - preceded by an episode of Wernicke encephalopathy, which is an acute brain reaction to severe lack of thiamine. (alz.org)
  • Scientists don't yet know exactly how Korsakoff syndrome damages the brain. (alz.org)
  • Korsakoff syndrome is a clinical diagnosis representing a physician's best judgment about the cause of a person's symptoms. (alz.org)
  • CBD can also present clinically as progressve supranuclear palsy (there is significant clinical and some neuropathological overlap between these entities), a frontal behavioral-spatial syndrome, primary progressive aphasia[1] , or (rarely) as posterior cortical atrophy. (medscape.com)
  • criteria lies in formally defining the clinical syndromes associated with CBD pathology. (medscape.com)
  • Researchers have found that MAMs are closely related to metabolic syndrome and neurodegenerative diseases (NDs). (bvsalud.org)
  • Here we show that such fibrils also occur in Creutzfeldt-Jakob and Gerstmann-Sträussler-Scheinker diseases, where they form protease-K-resistant deposits and co-localize with amyloid plaques formed from prion protein. (mdc-berlin.de)
  • The diagnosis of syndromes associated with CBD pathology is based on history and physical examination, while imaging, serum, and cerebrospinal fluid studies serve an ancillary role. (medscape.com)
  • The syndrome may sometimes be hard to identify because it may be masked by symptoms of other conditions common among those who misuse alcohol, including intoxication or withdrawal, infection, or head injury . (alz.org)
  • In reticulum pathology, hematopoietic as Creutzfeldt-Jakob base, reactions of PrP syndrome are characterised temporally in the corneal and Functional structure. (familie-vos.de)
  • Korsakoff syndrome and its associated thiamine deficiency is not the only mechanism through which heavy drinking may contribute to chronic thinking changes and cognitive decline. (alz.org)
  • Korsakoff syndrome is most commonly caused by alcohol misuse, but can also be associated with AIDS, cancers that have spread throughout the body, chronic infections, poor nutrition and certain other conditions. (alz.org)
  • Korsakoff syndrome is a chronic memory disorder caused by severe deficiency of thiamine (vitamin B-1). (alz.org)
  • Because the chronic memory loss of Korsakoff syndrome often follows an episode of Wernicke encephalopathy, the chronic disorder is sometimes known as Wernicke-Korsakoff syndrome. (alz.org)
  • Korsakoff syndrome causes problems learning new information, inability to remember recent events and long-term memory gaps. (alz.org)
  • Prodynorphin and Proenkephalin in Cerebrospinal Fluid of Sporadic Creutzfeldt-Jakob Disease. (nih.gov)
  • and variant, familial and sporadic Creutzfeldt Jakob disease (CJD). (nih.gov)
  • Clinical features seen in patients with sporadic Creutzfeldt-Jakob disease (sCJD) may be diverse symptoms. (e-jnic.org)
  • Sporadic, familial, iatrogenic and variant, of which sporadic Creutzfeldt-Jakob disease (sCJD) is the most common, and sCJD has characteristic clinical and diagnostic features 2 - 4 ). (e-jnic.org)
  • Sporadic Creutzfeldt-Jakob disease, like other prion diseases, is classified as a transmissible spongiform encephalopathy and occurs as a sporadic disease without a recognizable transmission pattern in approximately 85% of patients 6 ). (e-jnic.org)
  • To date, the only prion disease that has sporadic incidences is Creutzfeldt-Jakob disease . (goinggentleintothatgoodnight.com)
  • International differences in pathological confirmation of sporadic Creutzfeldt-Jakob disease, stable over time, were evident. (ox.ac.uk)
  • The conversion is induced by prion infections (for example, variant Creutzfeldt-Jakob disease (vCJD), iatrogenic CJD, Kuru), mutations (familial CJD, Gerstmann-Straussler-Scheinker syndrome, fatal familial insomnia (FFI)) or unknown factors (sporadic CJD (sCJD)), and is thought to occur after PrPC has reached the plasma membrane or is re-internalized for degradation. (kegg.jp)
  • BACKGROUND: Cerebrospinal fluid (CSF) Real Time-Quaking Induced Conversion (RT-QuIC) has a high degree of sensitivity and specificity for the diagnosis of sporadic Creutzfeldt-Jakob Disease (sCJD) and this has led to it being included in revised European CJD Surveillance network diagnostic criteria for sCJD. (docwirenews.com)
  • Finally, the third type of prion disease is Sporadic Creutzfeldt-Jakob (CJD) . (protem.ca)
  • Sporadic Creutzfeldt-Jakob disease is also known as classic CJD, and is found in about 1-2 people per million around the world. (protem.ca)
  • In the sporadic cases (sporadic Creutzfeld-Jakob disease, sCJD), PrP-containing plaques are infrequent, whereas in transmitted (variant CJD) and inherited (Gerstmann-Straussler-Scheinker Syndrome) cases, plaques are a usual feature. (cmich.edu)
  • It should not be confused with Gerstmann-Straussler syndrome, which is a transmissible spongiform encephalopathy. (the-medical-dictionary.com)
  • Prion diseases include Creutzfeldt-Jakob, a rare and fatal disease in humans, as well as mad cow disease in cattle and chronic wasting disease, which affects deer, elk, moose and reindeer. (ctvnews.ca)
  • Transmissible spongiform encephalopathies (TSEs) such as bovine spongiform encephalopathy (BSE) in cattle and Creutzfeldt-Jakob disease (CJD) in humans are supposed to be caused by the scrapie form of prion protein (PrP^sup Sc^), the abnormal, oligomeric form of the cellular prion protein (PrP^sup C^) of the host. (the-medical-dictionary.com)
  • We previously reported a phenotype of Creutzfeldt-Jakob disease (CJD), CJD-MMiK, that could help identify iatrogenic CJD. (cdc.gov)
  • Iatrogenic Creutzfeldt-Jakob disease, final assessment. (cdc.gov)
  • This study estimated the overall incidence of iatrogenic Creutzfeldt-Jakob disease (iCJD) based on dura graft cases in Korea using a mathematical model. (parasitol.or.kr)
  • More than 30 mutations in the PRNP gene have been identified in people with familial forms of prion disease, including Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI). (nih.gov)
  • These inherited forms include Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. (cdc.gov)
  • Here we have investigated the stability and Cu(II) binding properties of three recombinant variants of murine full-length PrP(23-231)-containing destabilizing point mutations that are associated with human Gerstmann-Straussler-Scheinker disease (F198S), Creutzfeld-Jakob disease (E200K), and fatal familial insomnia (D178N) by electron paramagnetic resonance and circular dichroism spectroscopy. (the-medical-dictionary.com)
  • FFI is in a class of neurological diseases caused by prions (( Creutzfeldt-Jakob disease and its bovine equivalent, Mad Cow disease are other examples). (goinggentleintothatgoodnight.com)
  • CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration). (nih.gov)
  • Atypical parkinsonian syndromes (multiple systems atrophy, progressive supranuclear palsy, corticobasal degeneration) have other features such as cerebellar degeneration, supranuclear gaze palsy, or asymmetrical limb apraxia. (renalandurologynews.com)
  • The symptoms are similar to those of prion diseases, which include Creutzfeldt-Jakob disease and some of its variants, including mad cow disease, or bovine spongiform encephalopathy (BSE). (cbc.ca)
  • Our study demonstrated that hyperactivity syndrome is related to hypoconnected default-mode network in Alzheimer's disease. (psychiatryinvestigation.org)
  • A recent study examined the relationship between resting functional connectivity and NPS in patients with Alzheimer's disease, and it has shown that functional connectivity between the anterior cingulate cortex and the insula was associated with hyperactivity syndrome including agitation and disinhibition [ 14 ]. (psychiatryinvestigation.org)
  • HN - 2010 FX - Polysomnography MH - Acute Chest Syndrome UI - D056586 MN - C8.381.74 MN - C8.618.09 MN - C15.378. MN - C15.378.420.155.219 MN - C16.320.70.150.219 MN - C16.320.365.155.219 MS - Respiratory syndrome characterized by the appearance of a new pulmonary infiltrate on chest x-ray, accompanied by symptoms of fever, cough, chest pain, tachypnea, or DYSPNEA, often seen in patients with SICKLE CELL ANEMIA. (nih.gov)
  • What are the symptoms of Cushing's syndrome? (nih.gov)
  • Signs and symptoms of Cushing's syndrome vary. (nih.gov)
  • Not everyone with Cushing's syndrome has these symptoms, which can make it hard to detect. (nih.gov)
  • The disease has symptoms similar to those of the rare and fatal Creutzfeldt-Jakob disease, but 'testing so far has ruled out known prion diseases,' the memo stated. (cbc.ca)
  • CASE PRESENTATION: We present the case of a 34-year-old Asian female who tested positive for severe acute respiratory syndrome coronavirus 2 infection using a nasopharyngeal swab sample and presented with acute changes in consciousness without typical respiratory symptoms. (bvsalud.org)
  • Manifestation of symptoms depends on the infecting species and mode of acquisition, and can range from gastrointestinal syndromes to septicemia. (nih.gov)
  • ProTem -Moncton NB- shares symptoms of creutzfeldt-jakob disease. (protem.ca)
  • Parkinsonian syndromes are a group of movement disorders characterized by classical motor symptoms such as tremors, bradykinesia, and rigidity. (enwik.org)
  • Altered consciousness due to severe acute respiratory syndrome coronavirus 2 encephalitis is a very threatening condition if not treated immediately. (bvsalud.org)
  • It was named after two German psychiatrists, Hans Gerhard Creutzfeldt and Alfons Maria Jakob. (brighamandwomens.org)
  • Some of these samples were contaminated with prions that caused certain patients ​to develop Creutzfeldt-Jakob disease (CJD), a rare and fatal brain disorder . (kindness2.com)
  • Creutzfeldt-Jakob disease (CJD) is a neurodegenerative condition that is caused by misfolded protein particles ( prions ). (amboss.com)
  • HALIFAX -- Two experts in brain diseases say there are many unanswered questions about a possible degenerative neurological syndrome recently disclosed by New Brunswick health officials. (ctvnews.ca)
  • It doesn't mean for certain that there is a progressive neurological syndrome on the loose. (ctvnews.ca)
  • In a March 5 memo to organizations representing New Brunswick's doctors, nurses and pharmacists, deputy chief medical officer of health Dr. Cristin Muecke said her office is investigating a cluster of cases of 'a progressive neurological syndrome of unknown etiology,' or origin. (ctvnews.ca)
  • Progressive, unexplained neurological syndromes do happen in all parts of the country and the world, simply because we do not know everything,' Sim said. (ctvnews.ca)
  • In an internal memo obtained by Radio-Canada, sent on March 5 by the office of the chief medical officer of health to the New Brunswick Medical Society and to associations of doctors and nurses, the department highlighted a cluster of 42 cases of a progressive neurological syndrome of unknown origin. (cbc.ca)
  • Within days, he developed evidence of a progressive ascending neurological syndrome and subsequent brain involvement with supranuclear palsy of upgaze, catalepsy and death 36 days after symptom onset. (edu.au)
  • Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, invariably fatal neurodegenerative disorder believed to be caused by an abnormal isoform of a cellular glycoprotein known as the prion protein. (cdc.gov)
  • Introduction Creutzfeldt-Jakob disease (CJD) is an ultimately fatal, neurodegenerative disease caused by misfolded prion protein aggregation and accumulation. (edu.au)
  • FFI, along with Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker Syndrome (GSS) , fall into this type of prion disease. (goinggentleintothatgoodnight.com)
  • Although syndrome names and definitions were different, the proteome and presumed pathological mechanism(s) may be shared. (biomedcentral.com)
  • Cushing's syndrome is a disorder that occurs when your body makes too much of the hormone cortisol over a long period of time. (nih.gov)
  • Asperger syndrome ( AS ), also known as Asperger's , is a developmental disorder characterized by significant difficulties in social interaction and nonverbal communication , along with restricted and repetitive patterns of behavior and interests. (mdwiki.org)
  • Uniquely, we also guarantee to pay out if they're diagnosed with incurable stage 4 cancer, motor neurone disease, Creutzfeldt-Jakob disease or Parkinson-plus syndromes even if they're expected to survive more than 12 months. (guardian1821.co.uk)
  • Initially described in 1921, Creutzfeldt-Jakob disease (CJD) is a rare, transmissible prion disease 1 ). (e-jnic.org)
  • These include motoneuron disease,spinal muscular atrophy, Creutzfeldt-Jakob disease, poliomyelitis and polio-like syndrome, syringomyelia, multiple sclerosis, and other myelopathies.Electrophysiologic studies help characterize these disease entities and localize the lesion site. (oxfordmedicine.com)
  • The cases have 'many similarities to Creutzfeldt-Jakob disease,' she said, but testing has so far ruled out known prion diseases. (ctvnews.ca)
  • However, despite many similarities, tests for Creutzfeldt-Jakob disease have so far ruled out known prion diseases, the March 5 public health memo states. (cbc.ca)
  • Empiric therapy was immediately and simultaneously given with cerebrospinal fluid analysis using polymerase chain reaction, which later also showed positive results for severe acute respiratory syndrome coronavirus 2 infection. (bvsalud.org)
  • HN - 2010 MH - Alien Hand Syndrome UI - D055964 MN - C10.597.606.881.350.99 MN - C23.888.592.604.80.500 MN - C23.888.592.604.882.350.99 MN - F1.700.80.249 MN - F1.700.875.350.99 MS - An apraxia characterized by the affected limb having involuntary, autonomous, and purposeful behaviors that are perceived as being controlled by an external force. (nih.gov)
  • The Guillain-Barré syndrome (GBS) is an acute, frequently severe evolution of a demyelinating inflammatory polyradiculopathy with an autoimmune pathogenesis. (annals.edu.sg)
  • The product is made from human plasma and may contain infectious agents, e.g. viruses and, theoretically, the Creutzfeldt-Jakob disease agent ( 5.3 ). (nih.gov)
  • Products made from human plasma may contain infectious agents, such as viruses and theoretically, the Creutzfeldt-Jakob disease (CJD) agent that can cause disease. (hypermunes.com)
  • Multiple factors (e.g., infection, and pulmonary FAT EMBOLISM) may contribute to the development of the syndrome. (nih.gov)
  • This chapter provides recommendations for infection control procedures to minimise the risk of transmission of classical Creutzfeldt-Jakob disease (CJD) in health care settings. (alcohol.gov.au)