Creutzfeldt jakob syndrome. Medical search

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)

Creutzfeldt-Jakob disease, and Gerstmann-Sträussler-Scheinker syndrome. Although prions are fundamentally different from ... Is human herpesvirus-6 a trigger for chronic fatigue syndrome?. Journal of Clinical Virology. 2006;37 Suppl 1:S39-46. doi: ... Sauerbrei A, Wutzler P. The congenital varicella syndrome. Journal of perinatology : official journal of the California ... Isolation of a T-lymphotropic retrovirus from a patient at risk for acquired immune deficiency syndrome (AIDS). Science. 1983; ...

https://en.wikipedia.org/wiki/Virus

Prion diseases comprise Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome, fatal familial insomnia and ... 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 ... Diagnosis of Gerstmann-Straussler syndrome in familial dementia with prion protein gene analysis. Lancet 1989; 2: 15-7 http:// ...

https://en.wikipedia.org/wiki/National_Prion_Clinic_(UK)

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. ...

https://en.wikipedia.org/wiki/The_Tale_of_the_Dueling_Neurosurgeons

PCA may also be correlated with the diseases of Lewy body, Creutzfeldt-Jakob disease, Bálint's syndrome, and Gerstmann syndrome ... In rare cases, PCA can be caused by dementia with Lewy bodies and Creutzfeldt-Jakob disease. PCA usually affects people at an ... Posterior cortical atrophy (PCA), also called Benson's syndrome, is a form of dementia which is usually considered an atypical ... Bernard; Alexis Brice (September 2004). "Benson's syndrome or Posterior Cortical Atrophy" (PDF). Orphanet Encyclopedia. ...

https://en.wikipedia.org/wiki/Posterior_cortical_atrophy

PRNP: prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) ...

https://en.wikipedia.org/wiki/Chromosome_20

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 charity ...

https://en.wikipedia.org/wiki/Alzheimer's_Society_of_Ireland

https://en.wikipedia.org/wiki/Alzheimer's_Society

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 ...

https://en.wikipedia.org/wiki/Intention_tremor

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: ... Hallervorden-Spatz syndrome) PKIG: encoding protein cAMP-dependent protein kinase inhibitor gamma PLAGL2: encoding protein Zinc ...

https://en.wikipedia.org/wiki/Chromosome_20_(human)

... creutzfeldt-jakob syndrome MeSH C10.228.140.380.230 --- dementia, vascular MeSH C10.228.140.380.230.250 --- dementia, multi- ... creutzfeldt-jakob syndrome MeSH C10.228.228.800.260 --- encephalopathy, bovine spongiform MeSH C10.228.228.800.350 --- ... cri-du-chat syndrome MeSH C10.597.606.643.210 --- de lange syndrome MeSH C10.597.606.643.220 --- down syndrome MeSH C10.597. ... melas syndrome MeSH C10.228.140.163.100.540 --- menkes kinky hair syndrome MeSH C10.228.140.163.100.545 --- merrf syndrome MeSH ...

https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C10)

Creutzfeldt-Jakob disease Fatal familial insomnia Gerstmann-Sträussler-Scheinker syndrome Kuru PANDAS Sydenham's chorea Acute ... Subacute sclerosing panencephalitis Progressive multifocal leukoencephalopathy Acquired immunodeficiency syndrome (AIDS) ... disseminated encephalomyelitis Guillain-Barré syndrome Neuroepidemiology Meningitis Encephalitis Central nervous system viral ...

https://en.wikipedia.org/wiki/List_of_infections_of_the_central_nervous_system

... creutzfeldt-jakob syndrome MeSH F03.087.400.350 --- dementia, vascular MeSH F03.087.400.350.400 --- dementia, multi-infarct ... 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 ...

https://en.wikipedia.org/wiki/List_of_MeSH_codes_(F03)

Creutzfeldt-Jakob disease and Fragile X syndrome. His discovery of adult mammalian central nervous system stem cells has ...

https://en.wikipedia.org/wiki/Samuel_Weiss

Creutzfeldt-Jakob disease Cumulative trauma disorders Cushing's syndrome Cyclothymic disorder Cyclic vomiting syndrome ... 15 Joubert syndrome Karak syndrome Kearns-Sayre syndrome Kinsbourne syndrome Kleine-Levin syndrome Klippel Feil syndrome Krabbe ... ataxia Fibromyalgia Foville's syndrome Fetal alcohol syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome ... Shaken baby syndrome Shingles Shy-Drager syndrome Sjögren's syndrome Sleep apnea Sleeping sickness Snatiation Sotos syndrome ...

https://en.wikipedia.org/wiki/List_of_neurological_conditions_and_disorders

Human prion diseases include Creutzfeldt-Jakob disease (CJD) and its variant (vCJD), Gerstmann-Sträussler-Scheinker syndrome, ... The human prion disease variant Creutzfeldt-Jakob disease, however, is believed to be caused by a prion that typically infects ... Manuelidis L, Yu ZX, Barquero N, Banquero N, Mullins B (Feb 2007). "Cells infected with scrapie and Creutzfeldt-Jakob disease ... Sutton JM, Dickinson J, Walker JT, Raven ND (Sep 2006). "Methods to minimize the risks of Creutzfeldt-Jakob disease ...

https://en.wikipedia.org/wiki/Prion

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 ...

https://en.wikipedia.org/wiki/Bálint's_syndrome

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 ...

https://en.wikipedia.org/wiki/Alfons_Maria_Jakob

Myoclonus (spasmodic muscle contraction) is less frequently seen than in Creutzfeldt-Jakob disease. Many patients also exhibit ... Gerstmann-Sträussler-Scheinker syndrome, MedicineNet.com UK CJD Surveillance Unit Monitors UK GSS cases and gives a ... Gerstmann-Sträussler-Scheinker syndrome (GSS) is a very rare, usually familial, fatal neurodegenerative disease that affects ... Gerstmann-Sträussler-Scheinker syndrome (GSS) was first described as neurodegenerative diseases in the 1920s (Elsevier Science ...

https://en.wikipedia.org/wiki/Gerstmann–Sträussler–Scheinker_syndrome

Stereotypic movement disorder Carbon monoxide poisoning Cerebral palsy Creutzfeldt-Jakob disease Fetal alcohol syndrome Head ... dystrophy Fragile X syndrome Hallervorden-Spatz syndrome Huntington's disease Klinefelter's syndrome Lesch-Nyhan syndrome ... Although Tourette syndrome is the most common cause of tic disorders, other sporadic, genetic, and neurodegenerative disorders ... Full text Black, Kevin J. Tourette Syndrome and Other Tic Disorders. eMedicine.com March 22, 2006. Evidente, GH. "Is it a tic ...

https://en.wikipedia.org/wiki/Tourettism

CADASIL syndrome, depression, Alzheimer's disease, Chagas disease, Creutzfeldt-Jakob disease, dementia (and dementias such as ... Marin argues that apathy should be regarded as a syndrome or illness. A review article by Robert van Reekum, MD, et al. from ... It is also known to be a distinct psychiatric syndrome that is associated with many conditions, some of which are: ... Asperger's syndrome, and others. Some medications and the heavy use of drugs such as opiates or GABA-ergic drugs may bring ...

https://en.wikipedia.org/wiki/Apathy

Creutzfeldt-Jakob disease (CJD), neurofibromatosis or amyotrophic lateral sclerosis (ALS), causes like over-exertion are more ... Benign fasciculation syndrome is a diagnosis of exclusion; that is, other potential causes for the twitching (mostly forms of ... The syndrome causes no known long-term physical damage. Patients may suffer elevated anxiety even after being diagnosed with ... "Benign Fasciculation Syndrome as a Manifestation of Small Fiber Neuropathy (P01.139) -- Tzatha et al. 80 (1001): P01.139 -- ...

https://en.wikipedia.org/wiki/Benign_fasciculation_syndrome

Creutzfeldt-Jakob disease, fatal familial insomnia, feline spongiform encephalopathy, Gerstmann-Sträussler-Scheinker syndrome, ... and variant Creutzfeldt-Jakob disease. The human PRNP gene is located on the short (p) arm of chromosome 20 between the end ( ... 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 ...

https://en.wikipedia.org/wiki/PRNP

... 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 ...

https://en.wikipedia.org/wiki/Ernst_Sträussler

Creutzfeldt-Jakob disease. *Huntington's disease. *Parkinson's disease. *AIDS dementia complex. *Frontotemporal dementia ... The syndrome has also been called nonsense syndrome, balderdash syndrome, syndrome of approximate answers, hysterical ... a b c d e f g h i Weiner, H.; Brainman, A. (1955). The Ganser Syndrome: A Review and Addition of Some Unusual Cases. American ... a b c d e f g h i Bromberg, W. (1986). The neglect of Ganser Syndrome. The American Journal of Psychiatry, 143(7), 937-938. ...

https://en.wikipedia.org/wiki/Ganser_syndrome

Creutzfeldt-Jakob disease. *Frontotemporal dementia. *Huntington's disease. *Mild cognitive impairment. *Parkinson's disease ... "Asperger's syndrome". Oxford Dictionaries. Retrieved 16 May 2018.. *^ a b c d e f g h i "Autism Spectrum Disorder". National ... Asperger syndrome. Other names. Asperger's syndrome, Asperger disorder (AD), Asperger's, schizoid disorder of childhood,[1] ... Main article: History of Asperger syndrome. Named after the Austrian pediatrician Hans Asperger (1906-1980), Asperger syndrome ...

https://en.wikipedia.org/wiki/Asperger's_syndrome

Chronic traumatic encephalopathy Creutzfeldt-Jakob disease Cystic Fibrosis Cytochrome C Oxidase Deficiency Diabetes (type II) ... Keratoglobus Leigh syndrome Leukodystrophy Macular degeneration (AMD) Marfan's syndrome Measles encephalopathy Mitochondrial ... Ehlers-Danlos syndrome Essential tremor Fibrodysplasia Ossificans Progressiva Friedreich's ataxia Heart disease Huntington's ... Myopathy Mitochondrial DNA depletion syndrome Multiple sclerosis Multiple system atrophy Muscular dystrophy (MD) Neuronal ...

https://en.wikipedia.org/wiki/Degenerative_disease

Creutzfeldt-Jakob disease. *Frontotemporal dementia. *Huntington's disease. *Mild cognitive impairment. *Parkinson's disease ... Cornelia De Lange syndrome, fetal alcohol syndrome, fragile X syndrome, dyslexia, Fahr syndrome, hyperlexia, leukodystrophy, ... "Asperger Syndrome Fact Sheet". ninds.nih.gov.. *^ Attwood, T (2003). Is There a Difference Between Asperger's Syndrome and High ... criteria to diagnose Asperger syndrome. Several factors complicate the diagnosis of Asperger syndrome (AS), an autism spectrum ...

https://en.wikipedia.org/wiki/Diagnosis_of_Asperger_syndrome

... is a symptom during the final stages of Creutzfeldt-Jakob disease (a rare degenerative brain disease) and can ... Selective mutism Locked-in syndrome Athymhormic syndrome Catatonia Aboulia Cairns, H; R. C. Oldfield; J.B. Pennybacker; D. ... Creutzfeldt-Jakob disease (mesencephalic form) Akinetic mutism can be misdiagnosed as depression, delirium, or locked-in ... "Akinetic mutism as a classification criterion for the diagnosis of Creutzfeldt-Jakob Disease". Journal of Neurology, ...

https://en.wikipedia.org/wiki/Akinetic_mutism

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. In ... However, Reye's syndrome and traumatic brain injury can both cause decorticate posturing in children. For reasons that are ...

https://en.wikipedia.org/wiki/Abnormal_posturing

"Variant Creutzfeldt-Jakob disease". World Health Organization. Retrieved 2017-04-25. February 2012. "Variant Creutzfeldt-Jakob ... The first case was identified as a fatal wasting syndrome in the 1960s. It was then recognized as a transmissible spongiform ... "Variant Creutzfeldt-Jakob disease". World Health Organization. Retrieved 2017-11-09. "Risk for Travelers , Variant Creutzfeldt- ... Classic Creutzfeldt-Jakob disease (CJD) was discovered in 1920. It occurs sporadically over the world but is very rare. It ...

https://en.wikipedia.org/wiki/Transmissible_spongiform_encephalopathy

F02.1) Dementia in Creutzfeldt-Jakob disease. *(F02.2) Dementia in Huntington's disease. *(F02.3) Dementia in Parkinson's ... Alcohol dependence syndrome Alcohol withdrawal syndrome Delirium tremens Alcoholic hallucinosis Korsakoff's syndrome ... F50-F59) Behavioural syndromes associated with physiological disturbances and physical factors[edit]. *(F50) Eating disorders * ... F07.2) Postconcussional syndrome. *(F07.8) Other organic personality and behavioural disorders due to brain disease, damage and ...

https://en.wikipedia.org/wiki/ICD-10_Chapter_F

A spinal cord injury or chronic fatigue syndrome might also occasionally cause this disorder.[2] Age may also be a cause of ... Creutzfeldt-Jakob disease. *Huntington's disease. *Parkinson's disease. *AIDS dementia complex. *Frontotemporal dementia ... A New Megavitamin Syndrome - NEJM". New England Journal of Medicine. 309 (8): 445-448. doi:10.1056/nejm198308253090801.. ...

https://en.wikipedia.org/wiki/Sexual_anhedonia

Creutzfeldt-Jakob disease,[128] and motor neuron diseases, polyglutamine (PolyQ) diseases, muscular dystrophies[129] and ... Sjogren's syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating proteasomes which can be applied as clinical ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ... Jakob C, Egerer K, Liebisch P, Türkmen S, Zavrski I, Kuckelkorn U, Heider U, Kaiser M, Fleissner C, Sterz J, Kleeberg L, Feist ...

https://en.m.wikipedia.org/wiki/Proteasome

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 ... to compound risk for both Alzheimer's and sporadic Creutzfeldt-Jakob disease.[54] A point mutation on codon 102 of PRNP at ... variant Creutzfeldt-Jakob disease (vCJD). Similarities exist between kuru, thought to be due to human ingestion of diseased ...

https://en.m.wikipedia.org/wiki/PRNP

Savant syndrome. Dementia. *AIDS dementia complex. *Alzheimer's disease. *Creutzfeldt-Jakob disease. *Frontotemporal dementia ...

https://en.wikipedia.org/wiki/Hypnophobia

Savant syndrome. Dementia. *AIDS dementia complex. *Alzheimer's disease. *Creutzfeldt-Jakob disease. *Frontotemporal dementia ... Herman JL (July 1992). "Complex PTSD: A syndrome in survivors of prolonged and repeated trauma". Journal of Traumatic Stress. 5 ... See also: Rape trauma syndrome. An individual that has been exposed to domestic violence is predisposed to the development of ... Some at the Pentagon have used the terminology "PTSS" (syndrome instead of disorder, to avoid connotation of stigma), or just " ...

https://en.wikipedia.org/wiki/Posttraumatic_stress_disorder

... and Parkinson's disease to Creutzfeldt-Jakob disease, can lead to problems with movement or motor coordination. ... Examples include cancer and AIDS, which induce a body wasting syndrome called cachexia. Other syndromes or conditions that can ...

https://en.m.wikipedia.org/wiki/Muscle

A81.0) Creutzfeldt-Jakob disease. *(A81.1) Subacute sclerosing panencephalitis. *(A81.2) Progressive multifocal ... B22.2) HIV disease resulting in wasting syndrome. *(B22.7) HIV disease resulting in multiple diseases classified elsewhere ...

https://hi.wikipedia.org/wiki/आइसीडी-१०_अध्याय_ब

Pain; fibromyalgia; Creutzfeldt-Jakob disease.. Drowsiness, dizziness, heartburn, dry mouth, fatigue and nausea.[117] ... GI bleeds; ulcers; Reye syndrome; nephrotoxicity; blood dyscrasias (rarely); Stevens-Johnson syndrome (uncommon/rare) ... As per aspirin, except without Reye syndrome and with the following additions: myocardial infarctions, strokes and hypertension ... Hepatotoxicity; hypersensitivity reactions (rare), including Stevens-Johnson syndrome; hypotension (rare; IV). Phenacetin. No ...

https://en.wikipedia.org/wiki/Algesic

Creutzfeldt-Jakob disease. *Huntington's disease. *Parkinson's disease. *AIDS dementia complex. *Frontotemporal dementia ... This is now discouraged since it can bring on dangerous side effects such as neuroleptic malignant syndrome.[74] Most people ... Other causes that can secondarily produce parkinsonism are stroke and drugs.[59] Parkinson plus syndromes such as progressive ... The dopamine dysregulation syndrome - with wanting of medication leading to overusage - is a rare complication of levodopa use ...

https://en.wikipedia.org/?title=Parkinson's_disease

Overdose of an SSRI can result in serotonin syndrome.. Benzodiazepines[edit]. Benzodiazepines are most often prescribed to ... Creutzfeldt-Jakob disease. *Huntington's disease. *Parkinson's disease. *AIDS dementia complex. *Frontotemporal dementia ... Lee, S.; Wu, J.; Ma, Y. L.; Tsang, A.; Guo, W.-J.; Sung, J. (2009). "Irritable bowel syndrome is strongly associated with ... such as irritable bowel syndrome.[62] Patients with GAD can sometimes present with symptoms such as insomnia or headaches as ...

https://en.wikipedia.org/wiki/Generalized_anxiety

Creutzfeldt-Jakob disease. *Cumulative trauma disorders. *Cushing's syndrome. *Cyclic vomiting syndrome. *Cyclothymic disorder ... and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various ...

https://en.m.wikipedia.org/wiki/List_of_neurological_disorders

Savant syndrome. Dementia. *AIDS dementia complex. *Alzheimer's disease. *Creutzfeldt-Jakob disease. *Frontotemporal dementia ...

https://en.wikipedia.org/wiki/Schizophreniform_disorder

Creutzfeldt-Jakob disease)". Science. 165 (3897): 1023-1025. Bibcode:1969Sci...165.1023G. doi:10.1126/science.165.3897.1023. ... Gajdusek; Carleton, Daniel; Gibbs, Clarence J.; Alpers, Mâ (1966). "Experimental transmission of a Kuru-like syndrome to ...

https://ms.wikipedia.org/wiki/Daniel_Carleton_Gajdusek

Savant syndrome. Dementia. *AIDS dementia complex. *Alzheimer's disease. *Creutzfeldt-Jakob disease. *Frontotemporal dementia ...

https://en.wikipedia.org/wiki/Pedophobia_

In 1985, four young adults in the U.S. having received NPA growth hormone in the 1960s developed CJD (Creutzfeldt-Jakob disease ... The gains appear to be dose-dependent.[12] It has been used successfully in toddlers with Turner syndrome,[13] as well as in ... In 1976, physicians became aware that Creutzfeldt-Jakob disease could be transmitted by neurosurgical procedures and cornea ... In 1985 it was associated with the development of Creutzfeldt-Jakob disease, and was withdrawn from use. ...

https://en.wikipedia.org/wiki/Growth_hormone_therapy

... ugonjwa wa Creutzfeldt-Jakob, hivyo basi kuunganisha mfumo wa msingi wa matatizo haya ya kuzorota kwa nyuro na yale ya ugonjwa ... Lott IT, Head E (Machi 2005). "Alzheimer disease and Down syndrome: factors in pathogenesis". Neurobiol Aging 26 (3): 383-89. ... and dementia syndromes". J Alzheimers Dis 17 (1): 7-31. doi:10.3233/JAD-2009-1009 (inactive 2010-08-25) . PMID 19494429 . ... Down Syndrome) ambao wana nakala ziada ya jeni karibu ulimwenguni kote hudhihirisha Alzeima wanapofikisha umri wa maika 40.[36] ...

https://sw.wikipedia.org/wiki/Ugonjwa_wa_Alzheimer

Olio, KA (2004). "The Truth About 'False Memory Syndrome'". In Cosgrove L; Caplan PJ. Bias in psychiatric diagnosis. Northvale ... Creutzfeldt-Jakob disease. *Huntington's disease. *Parkinson's disease. *AIDS dementia complex. *Frontotemporal dementia ... Merskey H (1995). "Multiple personality disorder and false memory syndrome". British Journal of Psychiatry. 166 (3): 281-283. ... The therapy-caused cases of DID, it is argued, are strongly linked to false memory syndrome, a concept and term coined by ...

https://en.wikipedia.org/wiki/Multiple_personality_disorder

Creutzfeldt-Jakob disease. *Huntington's disease. *Parkinson's disease. *AIDS dementia complex. *Frontotemporal dementia ... Berk M, Dodd S, Kauer-Sant'anna M, Malhi GS, Bourin M, Kapczinski F, Norman T (2007). "Dopamine dysregulation syndrome: ... Cirillo PC, Passos RB, Bevilaqua MC, López JR, Nardi AE (December 2012). "Bipolar disorder and Premenstrual Syndrome or ... premenstrual syndrome (including premenstrual dysphoric disorder), or panic disorder.[21][30][39][40] A careful longitudinal ...

https://en.wikipedia.org/wiki/Bipolar_Disorder

... and variant Creutzfeldt-Jakob disease (vCJD). These all have highly transmissible pathogenic agents that induce brain damage. ... Guillain-Barré syndrome (GBS) induces an acute autoimmune response which affects the Schwann cells in the peripheral nervous ...

https://en.wikipedia.org/wiki/Progressive_inflammatory_neuropathy

In 1985, unusual cases of Creutzfeldt-Jakob disease were found in individuals that had received cadaver-derived HGH ten to ... Examples of other causes of shortness often treated with GH are Turner syndrome, chronic renal failure, Prader-Willi syndrome, ... Binder G, Wittekindt N, Ranke MB (February 2007). Noonan Syndrome: Genetics and Responsiveness to Growth Hormone Therapy. Horm ... More rarely, patients can experience joint swelling, joint pain, carpal tunnel syndrome, and an increased risk of diabetes.[48] ...

https://en.wikipedia.org/wiki/Somatotropin

Creutzfeldt-Jakob disease, thus potentially linking the underlying mechanism of these neurodegenerative disorders with that of ... Lott IT, Head E (March 2005). "Alzheimer disease and Down syndrome: factors in pathogenesis". Neurobiology of Aging. 26 (3): ... Down Syndrome) who have an extra gene copy almost universally exhibit at least the earliest symptoms of AD by 40 years of age.[ ... Education delays the onset of AD syndrome without changing the duration of the disease.[143] Learning a second language even ...

https://en.m.wikipedia.org/wiki/Alzheimer's

... a doença de Creutzfeldt-Jakob, pelo que existe a possibilidade destas doenças neurodegenerativas estarem relacionada com a ... Lott IT, Head E (2005). «Alzheimer Disease and Down Syndrome: Factors in Pathogenesis». Neurobiology of Aging. 26 (3): 383-89. ... and Dementia Syndromes». Journal of Alzheimer's Disease. 17 (1): 7-31. PMID 19494429. doi:10.3233/JAD-2009-1009. !CS1 manut: ... and Beta-secretase Activity as a Function of Age and Beta-amyloid in Down Syndrome and Normal Brain». Neurobiology of Aging. 28 ...

https://pt.m.wikipedia.org/wiki/Alzheimer

In 1985, unusual cases of Creutzfeldt-Jakob disease were found in individuals that had received cadaver-derived HGH ten to ... Examples of other causes of shortness often treated with GH are Turner syndrome, chronic renal failure, Prader-Willi syndrome, ... More rarely, patients can experience joint swelling, joint pain, carpal tunnel syndrome, and an increased risk of diabetes.[46] ... GH has also been used experimentally in patients with short bowel syndrome to lessen the requirement for intravenous total ...

https://en.wikipedia.org/wiki/Hgh

Alport's syndrome is associated with RP and an abnormal glomerular-basement membrane leading to nephrotic syndrome. It is ... Creutzfeldt-Jakob disease. *chaperonins: 3-Methylglutaconic aciduria 5. Protein targeting. *I-cell disease ... A mutation on the USH2A gene is known to cause 10-15% of a syndromic form of RP known as Usher's Syndrome when inherited in an ... RP combined with deafness (congenital or progressive) is called Usher syndrome.[7] ...

https://en.wikipedia.org/wiki/Retinitis_pigmentosa

Creutzfeldt-Jakob disease, and Gerstmann-Sträussler-Scheinker syndrome.[64] Although prions are fundamentally different from ... Is human herpesvirus-6 a trigger for chronic fatigue syndrome?. Journal of Clinical Virology. 2006;37 Suppl 1:S39-46. doi: ... Sauerbrei A, Wutzler P. The congenital varicella syndrome. Journal of perinatology : official journal of the California ... Isolation of a T-lymphotropic retrovirus from a patient at risk for acquired immune deficiency syndrome (AIDS). Science. 1983; ...

https://en.wikipedia.org/wiki/Virus_structure

Creutzfeldt-Jakob disease. *Huntington's disease. *Parkinson's disease. *AIDS dementia complex. *Frontotemporal dementia ... Da Costa's syndrome. *Psychalgia. *Conversion disorder. *(Ganser syndrome. *Globus pharyngis). *Neurasthenia. *Mass psychogenic ...

https://en.wikipedia.org/wiki/Mental_clarity

Creutzfeldt-Jakob disease, in association with a rapid onset of dementia. *Infection [5] ... Riddoch syndrome).[citation needed] Outcome[edit]. The prognosis of a patient with acquired cortical blindness depends largely ... Preservation/sparing of the abilities to perceive light and/or moving, but not static objects (Riddoch syndrome)[2] ... Cortical blindness can be associated with visual hallucinations, denial of visual loss (Anton-Babinski syndrome), and the ...

https://en.wikipedia.org/wiki/Cortical_blindness

Syndrome - see also Disease*. Creutzfeldt-Jakob 046.19. *. with dementia*. with behavioral disturbance 046.19. [294.11. ] ... Jakob-Creutzfeldt disease (syndrome) 046.19. *. with behavioral disturbance 046.19. [294.11. ]. *. without behavioral ... Creutzfeldt-Jakob disease (CJD) (syndrome) 046.19. *. variant (vCJD) 046.11*. with dementia*. with behavioral disturbance ... Jakob-Creutzfeldt disease (CJD) (syndrome) 046.19. *. variant (vCJD) 046.11*. with dementia*. with behavioral disturbance ...

http://www.icd9data.com/2011/Volume1/001-139/045-049/046/046.11.htm

Hans Gerhard Creutzfeldt, 1885 - 1964, German psychiatrist and Alfons Maria Jakob, 1884 - 1931, German psychiatrist) (also ... Familial cases of other prion diseases are known as Gerstmann-Sträussler-Scheinker syndrome (GSS) and fatal familial insomnia ( ... Creutzfeldt-Jakob disease (CJD) is a human prion disease, extremely rare yet always fatal. Most cases are sporadic, usually ...

https://www.news-medical.net/health/What-is-Creutzfeldte28093Jakob-Disease.aspx

Atypical presentation of Creutzfeldt-Jakob disease: The first Italian case associated with E196K mutation in the PRNP gene. ... Fingerprint Dive into the research topics of Atypical presentation of Creutzfeldt-Jakob disease: The first Italian case ...

https://moh-it.pure.elsevier.com/en/publications/atypical-presentation-of-creutzfeldt-jakob-disease-the-first-ital/fingerprints/

A81.0 Creutzfeldt-Jakob disease. A90, A91 Dengue fever (A90) including Dengue haemorrhagic fever (DHF) & Dengue shock syndrome ... A81.0 Creutzfeldt-Jakob disease. RATIONALE FOR SURVEILLANCE: The incidence of Creutzfeldt-Jakob Disease (CJD) and its variants ... Creutzfeldt-Jakob disease: sporadic, iatrogenic (recognized risk) or familial (same disease in first degree relative or disease ... Progressive cerebellar syndrome in a recipient of human cadaver-derived pituitary hormone; or. · Sporadic CJD with a recognized ...

http://www.nzdl.org/gsdlmod?e=d-00000-00---off-0who--00-0----0-10-0---0---0direct-10---4-------0-1l--11-en-50---20-preferences---00-0-1-00-0--4----0-0-11-10-0utfZz-8-00&a=d&c=who&cl=CL4.15&d=HASH01557374a800bcde34f55b43.9.5

... presumptive diagnosis of Morvan syndrome was followed by the correct histological diagnosis of sporadic Creutzfeldt-Jakob ... This report illustrates potential difficulties in differentiating autoimmune encephalopathies from sporadic Creutzfeldt-Jakob ... Aged, Atrophy, Autoantibodies, Brain, Creutzfeldt-Jakob Syndrome, Diagnosis, Differential, Electroencephalography, ... presumptive diagnosis of Morvan syndrome was followed by the correct histological diagnosis of sporadic Creutzfeldt-Jakob ...

https://www.neuroscience.ox.ac.uk/publications/430418

... journal articles and scientific articles related to Creutzfeldt-Jakob disease: Here you will find abstracts and references of ... Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing ... 48 Newest Publications about the topic creutzfeldt-jakob disease. rss You can refine your search further. Select from the ... Sporadic Creutzfeldt‐Jakob disease (sCJD) is characterized by wide clinical and pathological variability, which is mainly ...

https://www.bionity.com/en/publications/topic/creutzfeldt-jakob-disease/

... was established in October 1993 to monitor possible medically cases of Creutzfeldt-Jakob disease and subsequently all forms of ... familial and the potential occurrence of variant Creutzfeldt-Jakob disease in Australia. This report provides data collected ... The Australian National Creutzfeldt-Jakob disease Registry (ANCJDR) ... such as Gerstmann Str ussler-Sheinker syndrome and fatal familial insomnia. ...

http://www.health.gov.au/internet/main/publishing.nsf/Content/cda-cdi3804l.htm

... 0-9. A. B. C. D. E. F. G. H. I. J. K. L. M. N. O. P. Q. R. S. T ...

https://extranet.who.int/iris/restricted/handle/10665/107132/browse?authority=Creutzfeldt-Jakob+Syndrome&type=mesh

prion disease OR Creutzfeldt-Jakob disease OR Gerstmann-Straussler-Scheinker syndrome OR fatal familial insomnia (9 ... prion disease OR Creutzfeldt-Jakob disease OR Gerstmann-Straussler-Scheinker syndrome OR fatal familial insomnia ... 9 Studies found for: prion disease OR Creutzfeldt-Jakob disease OR Gerstmann-Straussler-Scheinker syndrome OR fatal ...

https://clinicaltrials.gov/ct2/results?cond=%22prion%20disease%22%20OR%20%22Creutzfeldt-Jakob%20disease%22%20OR%20%22Gerstmann-Straussler-Scheinker%20syndrome%22%20OR%20%22fatal%20familial%20insomnia%22

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 ... Article: Sporadic Creutzfeldt-Jakob Disease: A Retrospective Analysis of 104 Cases. * Creutzfeldt-Jakob Disease -- see more ...

https://medlineplus.gov/creutzfeldtjakobdisease.html

Creutzfeldt-Jakob Syndrome. Dementia. Brain Diseases. Central Nervous System Diseases. Nervous System Diseases. Prion Diseases ... MedlinePlus related topics: Creutzfeldt-Jakob Disease Genetic and Rare Diseases Information Center resources: Creutzfeldt-Jakob ... Creutzfeldt-Jakob disease (CJD)is a rapidly progressive, invariably fatal and untreatable neurodegenerative disease with a mean ... Quinacrine treatment trial for sporadic Creutzfeldt-Jakob disease. Neurology. 2013 Dec 3;81(23):2015-23. doi: 10.1212/WNL. ...

https://clinicaltrials.gov/show/NCT00183092

No results found! No results found for that in WHO HQ Library catalog. ...

https://kohahq.searo.who.int/cgi-bin/koha/opac-search.pl?q=su:%7BCreutzfeldt-Jakob%20syndrome%7D

The causes and geographic distribution of 267 cases of iatrogenic Creutzfeldt-Jakob disease (CJD) are here updated at the ... Creutzfeldt-Jakob Syndrome / epidemiology* * Creutzfeldt-Jakob Syndrome / genetics* * Humans * Iatrogenic Disease / ... Iatrogenic Creutzfeldt-Jakob disease at the millennium Neurology. 2000 Oct 24;55(8):1075-81. doi: 10.1212/wnl.55.8.1075. ... The causes and geographic distribution of 267 cases of iatrogenic Creutzfeldt-Jakob disease (CJD) are here updated at the ...

https://pubmed.ncbi.nlm.nih.gov/11071481/?dopt=Abstract

The worldwide epidemiology of Creutzfeldt-Jakob disease (CJD) is presented from an analysis of 1,435 patients. In the United ... Creutzfeldt-Jakob Syndrome / epidemiology* * Creutzfeldt-Jakob Syndrome / genetics * Creutzfeldt-Jakob Syndrome / transmission ... Creutzfeldt-Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol ... The worldwide epidemiology of Creutzfeldt-Jakob disease (CJD) is presented from an analysis of 1,435 patients. In the United ...

https://pubmed.ncbi.nlm.nih.gov/371520/?dopt=Abstract

Creutzfeldt-Jakob disease presenting as Wernicke-Korsakoff syndrome. J Neurol Sci 1992 Apr;108(2):149-53 Pietrini V A 47-year- ... A case of Creutzfeldt-Jakob disease (CJD) with presenting Wernicke encephalopathy (WE)-like symptoms and severe insomnia is ... fragile X syndrome (FRAXA): long CGG repeats. -- fragile X syndrome FRAXE):long CGG repeats. -- myotonic dystrophy (DM): long ... However, the histological features were consistent with Creutzfeldt-Jakob disease (CJD) with focal accentuation of the changes ...

http://www.mad-cow.org/med_fever.html

We previously reported a phenotype of Creutzfeldt-Jakob disease (CJD), CJD-MMiK, that could help identify iatrogenic CJD. To ... 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. DOIPubMed ...

https://wwwnc.cdc.gov/eid/article/26/6/18-1969

Creutzfeldt-Jakob Syndrome. LOTW:triptans (12:46 - 24:35). 12:46 24:35 ... Ryan Overman is reading our e-Pearl of the week about the Heidenhain variant of Creutzfeldt Jakob disease. The podcast ... Ryan Overman is reading our e-Pearl of the week about the Heidenhain variant of Creutzfeldt Jakob disease. The podcast ... ePearl1:Heidenhain variant of Creutzfeldt Jakob disease (11:33 - 12:45). 11:33 12:45 ...

https://www.aan.com/rss/Search/home/EpisodeDetail?item=1989&segment=1847

CJD itself, Jakob and Creutzfeldt, or Gerstmann-Straussler-Scheinker. syndrome, just another CJD or human TSE, named after ... Key words: Creutzfeldt-Jakob Syndrome; Regression Analysis; Mortality;. Death Certificate; Japan. snip.... AS demonstrated in ... Creutzfeldt Jakob. disease; FFI, fatal familial insomnia; GSS, Gerstmann Straeussler Scheinker. syndrome. Received August 10, ... Creutzfeldt-Jakob disease (vCJD) was being assessed in Hong Kong. So far, laboratory test results have proved negative, and it ...

http://www.vegsource.com/talk/madcow/messages/1001487.html

Keywords : Creutzfeldt-Jakob syndrome; Prion diseases; PrPSc proteins; Prions; Peru. · abstract in Spanish · text in Spanish · ... TORRES-RAMIREZ, Luis et al. Creutzfeldt-jakob disease in Peru: report of eleven cases. Rev. perú. med. exp. salud publica [ ... Creutzfeldt-Jakob disease (CJD) is a fatal neurological disease caused by pathological isoform of the human prion protein. ...

http://www.scielo.org.pe/scielo.php?script=sci_abstract&pid=S1726-46342014000200027&lng=en&nrm=iso&tlng=en

Creutzfeldt Jakob Syndrome. *Degenerative Brain Disorder. *Degenerative Disorders Of The Balance Organs ...

https://www.swedish.org/swedish-physicians/profile.aspx?name=carolyn+l+taylor&id=178887

creutzfeldt jakob syndrome. *deep brain stimulation. *degenerative brain disorder. *degenerative disorders of the balance ... The majority of patients she treats have Parkinsons Disease, atypical parkinsonism syndromes, tremor, dystonia, chorea, ...

https://www.swedish.org/swedish-physicians/profile.aspx?name=jennifer+l+witt&id=157935

Jakob-Creutzfeldt disease (syndrome) 046.19*. with behavioral disturbance 046.19 [294.11. ]. *. without behavioral disturbance ... Familial Creutzfeldt-Jakob disease*Iatrogenic Creutzfeldt-Jakob disease*Jakob-Creutzfeldt disease, unspecified*Sporadic ... Syndrome - see also Disease*. Creutzfeldt-Jakob 046.19*. with dementia*. with behavioral disturbance 046.19 [294.11. ] ... Creutzfeldt-Jakob disease (CJD) (syndrome) 046.19*. with dementia*. with behavioral disturbance 046.19 [294.11. ] ...

http://www.icd9data.com/2011/Volume1/001-139/045-049/046/046.19.htm

Creutzfeldt-Jakob disease is an organic brain syndrome caused by a protein-like particle called a prion. Loss of brain function ... Creutzfeldt-Jakob disease is an organic brain syndrome caused by a protein-like particle called a prion. Loss of brain function ...

https://medlineplus.gov/ency/imagepages/17146.htm

Learn what Creutzfeldt-Jakob Disease is, what causes it, how its diagnosed and treated, as well as the symptoms and prognosis ... Creutzfeldt-Jakob disease. Accessed February 10, 2012. http://www.who.int/topics/creutzfeldtjakob_syndrome/en/ ... What Is Creutzfeldt-Jakob Disease (CJD)?. Creutzfeldt-Jakob (pronounced CROYZ-felt YAH-cob) disease is a very rare ... Creutzfeldt-Jakob Disease Foundation, Inc. Creutzfeldt-Jakob Disease and other Prion Diseases. Accessed February 10, 2012. http ...

https://www.verywell.com/creutzfeldt-jakob-disease-p2-98734

Creutzfeldt-Jacob disease (CJD) is a degenerative proce ... We report a biopsy-diagnosed patient with Creutzfeldt-Jacob ... Creutzfeldt-Jakob Syndrome / pathology*. Female. Frontal Lobe / pathology. Humans. Magnetic Resonance Imaging. Middle Aged. ... Creutzfeldt-Jacob disease (CJD) is a degenerative process of the brain, induced by a novel infectious agent, and is usually ... We report a biopsy-diagnosed patient with Creutzfeldt-Jacob disease showing on magnetic resonance images bilateral increased ...

http://www.biomedsearch.com/nih/Magnetic-resonance-imaging-Creutzfeldt-Jacob/1929213.html

PRNP: prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) ...

https://en.wikipedia.org/wiki/Chromosome_20

No evidence of transfusion transmitted sporadic Creutzfeldt-Jakob disease: results from a bi-national cohort study. Holmqvist, ...

https://vbn.aau.dk/en/persons/130308

creutzfeldt jakob syndrome. *degenerative brain disorder. *degenerative disorders of the balance organs ...

http://www.providence.org/doctors/profile.aspx?region=wa&reset=true&name=li+zhongzeng&id=160038

Creutzfeldt-Jakob Syndrome [‎1]‎. Crime [‎1]‎. Critical Illness [‎1]‎. Croatia [‎4]‎. Cross Infection [‎2]‎. ...

https://extranet.who.int/iris/restricted/handle/10665/107132/browse?rpp=20&offset=97&etal=-1&sort_by=-1&type=mesh&starts_with_previous=B&order=ASC

Creutzfeldt-Jakob Syndrome (CJD) * Parkinson Disease * Aneurysm * Migraine Disorders * Memory Disorders * Stroke ...

https://www.vitals.com/doctors/Dr_Alireza_Atri.html

Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers syndrome? An analysis of a national surveillance ... Variant Creutzfeldt-Jakob disease in UK children: a national surveillance study.. Verity CM, Nicoll A, Will RG, Devereux G, ... Is there evidence of vertical transmission of variant Creutzfeldt-Jakob disease?. Murray K, Peters J, Stellitano L, Winstone AM ... Guillain-Barré syndrome and H1N1 influenza vaccine in UK children.. Verity C, Stellitano L, Winstone AM, Andrews N, Stowe J, ...

https://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Verity+C%5Bau%5D&dispmax=50

Categories: Creutzfeldt-Jakob Syndrome Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...

https://phil.cdc.gov/AdvancedSearchResults.aspx?Search=Creutzfeldt-Jakob+Syndrome&parentid=7818&catid=14529

Can acquired immunodeficiency syndrome and Creutzfeldt-Jakob disease be transmitted via otologic homografts?. Arch Otolaryngol ... Since 1986, homograft materials rarely are used because of the risk of disease transmission (eg, AIDS, Creutzfeldt-Jakob ...

https://emedicine.medscape.com/article/859889-overview

Drug-induced Creutzfeldt-Jakob disease-like syndrome: early CSF analysis as useful tool for differential diagnosis. ... Spinal cord and infratentorial lesions in radiologically isolated syndrome are associated with decreased retinal ganglion cell/ ...

https://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Calabresi+P%5Bau%5D&dispmax=50

This report illustrates potential difficulties in differentiating autoimmune encephalopathies from sporadic Creutzfeldt-Jakob disease. (ox.ac.uk)
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. (ox.ac.uk)
Sporadic Creutzfeldt‐Jakob disease (sCJD) is characterized by wide clinical and pathological variability, which is mainly influenced by the conformation of the misfolded prion protein, and by the methionine and valine polymorphism at codon 129 of the PRNP gene. (bionity.com)
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. (biomedcentral.com)
Possible diagnoses of Huntington's disease and sporadic Creutzfeldt-Jakob disease were considered and excluded. (alzforum.org)

Familial cases of other prion diseases are known as Gerstmann-Sträussler-Scheinker syndrome (GSS) and fatal familial insomnia (FFI). (news-medical.net)
Prion diseases are a group of transmissible fatal neurodegenerative disorders of humans and animals, including bovine spongiform encephalopathy, scrapie, and Creutzfeldt-Jakob disease. (bionity.com)
Prion diseases such as Creutzfeldt-Jakob disease (CJD) are incurable and rapidly fatal neurodegenerative diseases. (bionity.com)
The phenotypic and strain-related properties of human prion diseases are, according to the prion hypothesis, enciphered in the conformation of the misfolded, disease associated isoform of the prion protein, PrP Sc (Table 1 ), which is partially protease resistant and accumulates in the brains of patients with disorders such as Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker syndrome (GSS). (biomedcentral.com)
Creutzfeldt-Jakob disease (CJD) is the best known of the human prion diseases. (patient.info)

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. (biomedcentral.com)

It was first documented in a young Spanish woman suffering from an early onset dementia syndrome with a complex clinical phenotype. (alzforum.org)

There is also Gerstmann-Sträussler-Scheinker syndrome (GSS) - a rare inherited prion disease characterised by adult onset of memory loss, dementia, ataxia, and pathological deposition of amyloid-like plaques in the brain. (patient.info)

Creutzfeldt-Jakob disease (CJD) is a human prion disease, extremely rare yet always fatal. (news-medical.net)

Abstract Amyloid protein aggregation characterizes many neurodegenerative disorders, including Alzheimer's, Parkinson's, and Creutzfeldt‐Jakob disease. (bionity.com)

V roku 1993 zahájila Európska únia spoločný program dohľadu nad výskytom „Creutzfeldt-Jakob disease" (CJch) - surveillance CJch - EUROCJch, k pôvodným ôsmym štátom, medzi ktorými bolo aj Slovensko, neskôr pribudli nielen ďalšie štáty Európy, ale aj Austrália, Kanada a USA. (csnn.eu)

TSEs include kuru, Creutzfeldt-Jakob disease , Gerstmann-Str ä ussler-Scheinker syndrome, and fatal familial insomnia. (encyclopedia.com)
Prion diseases comprise Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome, fatal familial insomnia and related disorders. (wikipedia.org)
In humans, TSEs are represented by Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome, Fatal Familial Insomnia and Kuru. (archives-ouvertes.fr)
Included in this group are Creutzfeldt-Jacob disease, Gerstmann-Strüssler-Scheinker syndrome, kuru, and fatal familial insomnia in humans, mad cow disease (bovine spongiform encephalopathy), and scrapie in sheep and goats. (thefreedictionary.com)
The human prion diseases have been traditionally classified into Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler syndrome, fatal familial insomnia and kuru. (royalsocietypublishing.org)
Included are Creutzfeldt-Jakob Disease, Fatal Familial Insomnia and Kuru in humans plus Scrapie in sheep. (answers.com)
Familial cases of other prion diseases are known as Gerstmann-Sträussler-Scheinker syndrome (GSS) and fatal familial insomnia (FFI). (news-medical.net)
Prion diseases are fatal neurodegenerative disorders that include Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker disease, fatal familial insomnia, kuru, and variant CJD (vCJD) in humans and bovine spongiform encephalopathy (BSE) in cattle and scrapie in sheep ( 1 , 2 ). (pnas.org)
Human mutations will cause prion diseases such as Creutzfeldt-Jakob diseases (CJDs), Gerstmann-Sträussler-Scheinker (GSS) syndrome, fatal familial insomnia (FFI), etc. (schweitzer-online.de)

CJD may also be referred to as transmissible spongiform encephalopathy, vCJD, and Jacob-Creutzfeldt disease. (verywell.com)
While its incidence has steadily declined since the cessation of its route of transmission, endocannibalism, in Papua New Guinea in the 1950s, the arrival of variant Creutzfeldt-Jakob disease (vCJD), also thought to be transmitted by dietary prion exposure, has given kuru a new global relevance. (royalsocietypublishing.org)
The human's segment is classified into Creutzfeldt-Jakob disease, Variant Creutzfeldt-Jakob disease (vCJD), others. (medgadget.com)
In contrast, variant Creutzfeldt-Jakob disease (vCJD) is an acquired disorder that is most likely caused by the consumption of meat or meat products contaminated with the bovine spongiform encephalopathy agent. (thefreelibrary.com)

One such pathogen which exploits this pathway is the prion, the infectious particle responsible for the transmissible neurodegenerative diseases such as Creutzfeldt-Jakob disease (CJD) of humans or bovine spongiform encephalopathy (BSE) of cattle. (frontiersin.org)
Prions are the infectious particles that are responsible for transmissible neurodegenerative diseases such as Creutzfeldt-Jakob disease (CJD) of humans or bovine spongiform encephalopathy (BSE) of cattle. (frontiersin.org)
BSE belongs to a family of diseases known as transmissible spongiform encephalopathies (TSEs) that includes scrapie in sheep and goats, chronic wasting disease in deer, elk and moose, and in humans, classic and variant Creutzfeldt-Jakob disease (CJD) among other syndromes. (usda.gov)
Sporadic Creutzfeldt-Jakob disease (CJD) is the most prevalent manifestation of the transmissible spongiform encephalopathies or prion diseases affecting humans. (edu.au)
So far, we are following the script from 1996, when Britain issued a warning about a rise in a variant of Creutzfeldt-Jakob disease, a brain-wasting syndrome in humans that resembles mad cow disease. (seattlepi.com)
Few people at the time questioned the assertion that there was a link between eating meat and Creutzfeldt-Jakob in humans. (seattlepi.com)
Prion diseases such as Creutzfeldt-Jakob disease in humans, bovine spongiform encephalopathy in cattle, and scrapie in sheep are fatal neurodegenerative diseases for which there is no effective treatment. (umn.edu)

Scientists had know for years that Creutzfeldt-Jakob disease and kuru could be induced by injecting extracts of diseased brains into the brains of healthy animals. (encyclopedia.com)
Human slow virus encephalopathies include Kuru, Creutzfeldt-Jakob disease, & Gerstmann- Straussler syndrome. (sciencephoto.com)
Infectious forms of the disease result from ingestion of infected tissue or the introduction of infected tissue into the body ( kuru and some forms of Creutzfeldt-Jakob disease ). (thefreedictionary.com)
The principal clinical features of kuru in the studied patients showed the same progressive cerebellar syndrome that had been previously described. (royalsocietypublishing.org)
Publications] Doh-ura K: 'Creutzfeldt-Jakob disease patients with Congophilic kuru plaques have the missense variant protein common to Gerstmann-Straussler syndrome. (nii.ac.jp)
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)
Here, we directly compare the transmission properties of kuru prions with sporadic, iatrogenic, and variant Creutzfeldt-Jakob disease (CJD) prions in Prnp -null transgenic mice expressing human prion protein and in wild-type mice. (pnas.org)

In the next segment, Dr. Ryan Overman is reading our e-Pearl of the week about the Heidenhain variant of Creutzfeldt Jakob disease. (aan.com)

Publications] Tateishi J: 'Immunochemical,Molecular genetic,and transmission studies on a case of Gerstmann-Straussler-Scheinker syndrome. (nii.ac.jp)

Creutzfeldt-Jakob disease (CJD) is a rare, degenerative brain disorder . (medlineplus.gov)

Creutzfeldt-Jakob Disease Foundation, Inc. Creutzfeldt-Jakob Disease and other Prion Diseases. (verywell.com)
Aside from patients with Creutzfeldt-Jakob disease and other prion diseases, referrals are welcome of healthy but at-risk individuals from families with inherited prion disease. (wikipedia.org)
He described his interest in the topic as stemming from an encounter with a patient of his that succumbed to Creutzfeldt-Jakob disease (a prion diseases) in a mere two months. (123helpme.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)

All the cases belonged to the sporadic form of Jakob Creutzfeldt disease. (elsevier.com)
The most common human prion disease is the sporadic form of Creutzfeldt-Jakob disease (sCJD), which occurs worldwide with a relatively uniform incidence of 1-2 cases per million population per year, a peak incidence in the 7th decade of life, and a median duration of illness of 4 months. (thefreelibrary.com)

Creutzfeldt-Jakob (pronounced CROYZ-felt YAH-cob) disease is a very rare neurodegenerative brain disorder that affects about one person in a million. (verywell.com)

Examples include severe acute respiratory syndrome, bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease, highly pathogenic avian influenza, and haemorrhagic fevers such as Rift Valley fever. (who.int)
First, there is no direct evidence that Creutzfeldt-Jakob comes from the ingestion of contaminated beef, or that the syndrome deserves its reputation as the "human form" of bovine spongiform encephalopathy. (seattlepi.com)

14-3-3 CSF levels in sporadic Creutzfeldt-Jakob disease differ across molecular subtypes. (uzh.ch)
Quantification of surviving cerebellar granule neurones and abnormal prion protein (PrPSc) deposition in sporadic Creutzfeldt-Jakob disease supports a pathogenic role for small PrPSc deposits common to the various molecular subtypes. (semanticscholar.org)

Parkinson's Syndrome, Atypical Parkinson's, or Parkinsonism. (rochester.edu)

Tarnowska Dziduszko, E & Majtényi, K 1974, ' UBER DIE MORPHOLOGISCHEN VERANDERUNGEN DES KLEINHIRNS BEI DER JAKOB CREUTZFELDTSCHEN KRANKHEIT ', Neuropatologia Polska , vol. 12, no. 2, pp. 285-290. (elsevier.com)

Publications] Kitamoto T: 'Cerebral amyloid in mice with Creutzfeldt-Jakob disease is influenced by the strain of the infections agent. (nii.ac.jp)

Hence, SCA17 is also classified as a Huntington's disease like syndrome. (springer.com)
The conditions are often named after the doctors who first described them: Nieman Pick disease, Creutzfeldt-Jakob disease, Dandy- Walker syndrome, Friedreich's ataxia, Gaucher's disease, Guillain-Barré syndrome, Huntington's disease, Prader-Willi syndrome, Wilson's disease and so forth. (drmirkin.com)

Novel PRNP mutation in a patient with a slow progressive dementia syndrome. (uzh.ch)
At first, we reported that codon 102 or codon 117 point mutation was linked to Gerstmann-Straussler syndrome. (nii.ac.jp)

Meat products contaminated with Mad Cow have been linked to more than 150 human deaths worldwide, mostly in Britain, from a brain-wasting syndrome known as Creutzfeldt-Jakob Disease. (radioiowa.com)

Creutzfeldt-Jakob Disease Foundation, Inc. CJD Fact Sheet. (verywell.com)
The Creutzfeldt-Jakob Disease Foundation consists of members who are concerned about the complexity of issues surrounding this fatal brain disease. (diseaseinfosearch.org)

The assumption is justified that in Jakob Creutzfeldt disease the pathologic process in the cerebellum takes place mainly in the Purkinje cell layer and Bergmann's glia layer, presumably at the same time, and that it is based on a disturbance of the glioneural unit in the sense of Seitelberger's glioneural dystrophy. (elsevier.com)

Stiff-person syndrome often occurs in people with type 1 diabetes, certain autoimmune disorders, or certain kinds of cancer. (merckmanuals.com)
Stiff-person syndrome is more common among women and often occurs in people with type 1 diabetes, certain autoimmune disorders (such as thyroiditis ), or certain kinds of cancer, including breast cancer (most commonly), lung cancer, kidney cancer, thyroid cancer, colon cancer, and Hodgkin lymphoma . (merckmanuals.com)

Jaffe HW, Bregrnan DJ, Selik RM: Acquired immune deficiency syndrome in the United States: the first 1000 cases. (docme.ru)

MRI lesion profiles in sporadic Creutzfeldt-Jakob disease. (uzh.ch)
Isolated cortical signal increase on MR imaging as a frequent lesion pattern in sporadic Creutzfeldt-Jakob disease. (uzh.ch)

They include electromyography and blood tests to detect the antibodies that are present in many people with stiff-person syndrome. (merckmanuals.com)

An Ataxic Form of Subacute Presenile Polioencephalopathy (creutzfeldt-jakob Disease). (semanticscholar.org)

Anatomy1

Organisms3

Diseases114

Chemicals and Drugs2

Analytical, Diagnostic and Therapeutic Techniques and Equipment13

Psychiatry and Psychology7

Phenomena and Processes7

Information Science3

Named Groups1

Health Care8

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

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

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

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

Creutzfeldt--Jakob disease. (5/670)

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

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

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

Creutzfeldt-Jakob Syndrome

Syndrome

Down Syndrome

Metabolic Syndrome X

Nephrotic Syndrome

Sjogren's Syndrome

Turner Syndrome

Abnormalities, Multiple

Myelodysplastic Syndromes

Cushing Syndrome

Acute Coronary Syndrome

Polycystic Ovary Syndrome

Williams Syndrome

DiGeorge Syndrome

Horner Syndrome

Prader-Willi Syndrome

Long QT Syndrome

Guillain-Barre Syndrome

Hemolytic-Uremic Syndrome

Compartment Syndromes

Tourette Syndrome

Antiphospholipid Syndrome

Porcine Reproductive and Respiratory Syndrome

Klinefelter Syndrome

Carpal Tunnel Syndrome

Werner Syndrome

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Porcine respiratory and reproductive syndrome virus

HELLP Syndrome

Bloom Syndrome

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Respiratory Distress Syndrome, Adult

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Pedigree

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Job Syndrome

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Mutation

Paraneoplastic Syndromes

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Acquired Immunodeficiency Syndrome

Intellectual Disability

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Sturge-Weber Syndrome

Budd-Chiari Syndrome

Phenotype

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Facies

Kallmann Syndrome

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Stevens-Johnson Syndrome

Sezary Syndrome

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Risk Factors

Usher Syndromes

Beckwith-Wiedemann Syndrome

Alagille Syndrome

Treatment Outcome

Bardet-Biedl Syndrome

ACTH Syndrome, Ectopic

Peutz-Jeghers Syndrome

Hemorrhagic Fever with Renal Syndrome

Oculocerebrorenal Syndrome

Cockayne Syndrome

Smith-Lemli-Opitz Syndrome

Craniofacial Abnormalities

Wiskott-Aldrich Syndrome Protein

Stiff-Person Syndrome

Short Bowel Syndrome

Behcet Syndrome

Infant, Newborn

Zollinger-Ellison Syndrome

Serotonin Syndrome

Hepatopulmonary Syndrome

Orofaciodigital Syndromes

Proteus Syndrome