Creutzfeldt-Jakob Syndrome: 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))Syndrome: A characteristic symptom complex.Down Syndrome: 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)Metabolic Syndrome X: 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)Nephrotic Syndrome: 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.Sjogren's Syndrome: 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.Turner Syndrome: 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.Abnormalities, MultipleMyelodysplastic Syndromes: 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.Cushing Syndrome: 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.Acute Coronary Syndrome: An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.Polycystic Ovary Syndrome: 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.Williams Syndrome: 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.DiGeorge Syndrome: 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.Horner Syndrome: 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)Prader-Willi Syndrome: 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)Long QT Syndrome: 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.Guillain-Barre 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)Hemolytic-Uremic Syndrome: 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.Compartment Syndromes: 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.Tourette Syndrome: 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)Antiphospholipid Syndrome: 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).Porcine Reproductive and Respiratory Syndrome: 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)Klinefelter Syndrome: 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.).Carpal Tunnel Syndrome: 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)Werner Syndrome: 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.Reye Syndrome: 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.Bartter Syndrome: 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.Porcine respiratory and reproductive syndrome virus: A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.HELLP Syndrome: 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.Bloom Syndrome: 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.Brugada Syndrome: 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.Ehlers-Danlos Syndrome: 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.Respiratory Distress Syndrome, Adult: 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.Angelman Syndrome: 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)Pedigree: 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.Severe Acute Respiratory Syndrome: 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.Restless Legs Syndrome: 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.Job Syndrome: 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.Wiskott-Aldrich Syndrome: 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.Mutation: 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.Paraneoplastic Syndromes: 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.Sweet Syndrome: 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.Acquired Immunodeficiency Syndrome: 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.Intellectual Disability: 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)Churg-Strauss Syndrome: 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.Accounting: System of recording financial transactions.Budd-Chiari Syndrome: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Chediak-Higashi Syndrome: 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.Wolff-Parkinson-White Syndrome: 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.Facies: 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)Kallmann Syndrome: 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.Sick Sinus Syndrome: 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.Stevens-Johnson Syndrome: 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.Sezary Syndrome: 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).Felty Syndrome: A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.Risk Factors: 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.Usher Syndromes: 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.Beckwith-Wiedemann Syndrome: A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.Alagille Syndrome: 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).Treatment Outcome: 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.Bardet-Biedl Syndrome: 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)Peutz-Jeghers Syndrome: 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.Hemorrhagic Fever with Renal Syndrome: 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.Oculocerebrorenal Syndrome: 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)Cockayne Syndrome: 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.Smith-Lemli-Opitz Syndrome: 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.Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.Wiskott-Aldrich Syndrome Protein: 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.Stiff-Person Syndrome: 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)Short Bowel Syndrome: A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.Behcet Syndrome: 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.Infant, Newborn: An infant during the first month after birth.Zollinger-Ellison Syndrome: 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.Serotonin Syndrome: 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.Hepatopulmonary Syndrome: 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).Orofaciodigital Syndromes: 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.Proteus Syndrome: 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.Duane Retraction Syndrome: 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.Immunologic Deficiency Syndromes: Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.Complex Regional Pain Syndromes: 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)Goldenhar Syndrome: Mandibulofacial dysostosis with congenital eyelid dermoids.Respiratory Distress Syndrome, Newborn: 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.Neuroleptic Malignant Syndrome: 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)Costello Syndrome: 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).Klippel-Feil 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.Subclavian Steal Syndrome: 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)Hantavirus Pulmonary Syndrome: 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.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Neoplastic Syndromes, Hereditary: 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.Fatal Outcome: 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.Thoracic Outlet Syndrome: 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).Hermanski-Pudlak Syndrome: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Retrospective Studies: 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.Barium Sulfate: A compound used as an x-ray contrast medium that occurs in nature as the mineral barite. It is also used in various manufacturing applications and mixed into heavy concrete to serve as a radiation shield.LEOPARD Syndrome: 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.Case-Control Studies: 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.Hand Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Li-Fraumeni Syndrome: 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.Hamartoma Syndrome, Multiple: 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.Asperger Syndrome: 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)Mobius Syndrome: 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)Hepatorenal Syndrome: 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.Waardenburg Syndrome: 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.Systemic Inflammatory Response Syndrome: 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.Sleep Apnea Syndromes: 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.Follow-Up Studies: 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.Polyradiculoneuropathy: 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.Prospective Studies: 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.Ovarian Hyperstimulation Syndrome: 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.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Prevalence: 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.Premenstrual Syndrome: 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.Miller Fisher Syndrome: 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)Capillary Leak Syndrome: 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.Korsakoff Syndrome: 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)Neurocutaneous Syndromes: A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.Gitelman Syndrome: 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.Molecular Sequence Data: 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.Wolfram Syndrome: 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.Mutation, Missense: 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)Disease Models, Animal: 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.Acquired Hyperostosis Syndrome: 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.CREST 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.Wasting 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.Superior Vena Cava Syndrome: 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.SARS Virus: 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.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Munchausen Syndrome: 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.Myasthenic Syndromes, Congenital: 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)Consanguinity: The magnitude of INBREEDING in humans.Poland Syndrome: A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major.Magnetic Resonance Imaging: 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.Biological Markers: 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.Alstrom Syndrome: 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.Rubinstein-Taybi Syndrome: 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)

*The Tale of the Dueling Neurosurgeons

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. ...

*List of MeSH codes (C10)

... 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 ...

*List of MeSH codes (F03)

... 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 ...

*Posterior cortical atrophy

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. ...

*Virus

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; ...

*Alzheimer's Society of Ireland

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 ...

*Alzheimer's Society

Dementia types include vascular dementia, dementia with Lewy bodies, frontotemporal dementia, Korsakoff's syndrome, Creutzfeldt ... Jakob disease, HIV related cognitive impairment, mild cognitive impairment, and other rarer causes of dementia. It is a ...

*National Prion Clinic (UK)

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:// ...

*Intention tremor

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 ...

*List of infections of the central nervous system

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 ...

*Samuel Weiss

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

*Alfons Maria Jakob

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 ...

*Chromosome 20 (human)

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 ...

*List of neurological conditions and disorders

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 ...

*Gerstmann-Sträussler-Scheinker syndrome

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 ...

*Prion

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 ...

*Bálint's syndrome

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 ...

*Tourettism

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 ...

*Apathy

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 ...

*Benign fasciculation syndrome

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 -- ...

*PRNP

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 ...

*Ernst Sträussler

... 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 ...

*Degenerative disease

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 ...

*Akinetic mutism

... 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, ...

*Abnormal posturing

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 ...

*PSMD7

Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjogren's syndrome and rheumatoid arthritis (RA) predominantly exhibit ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
IMPORTANCE: The diagnosis of autoimmune and neurodegenerative conditions can be unclear. Treatments such as removing the associated tumor, if present, and immunosuppression can halt or often reverse the progression of autoimmune conditions, but there is no curative treatment for neurodegenerative conditions. The presence of autoantibodies can sometimes be misleading. This report illustrates potential difficulties in differentiating autoimmune encephalopathies from sporadic Creutzfeldt-Jakob disease. OBSERVATIONS: In a clinical follow-up of an older man with rapidly evolving encephalopathy at a neuroscience center, unsuccessful treatment with immunosuppression based on the incorrect presumptive diagnosis of Morvan syndrome was followed by the correct histological diagnosis of sporadic Creutzfeldt-Jakob disease. CONCLUSIONS AND RELEVANCE: Autoimmune encephalopathies raise important treatment options and potential for recovery. However, since neuronal antibodies may be positive in prion disease,
Sporadic Creutzfeldt-Jakob disease (sCJD) is the commonest form of human prion diseases, accounting for about 85% of all cases. Current criteria for intra vitam diagnosis include a distinct phenotype, periodic sharp and slow-wave complexes at electroencephalography (EEG), and a positive 14-3-3-protein assay in the cerebrospinal fluid (CSF). In sCJD, the disease phenotype may vary, depending upon the genotype at codon 129 of the prion protein gene (PRNP), a site of a common methionine/valine polymorphism, and two distinct conformers of the pathological prion protein. Based on the combination of these molecular determinants, six different sCJD subtypes are recognized, each with distinctive clinical and pathologic phenotypes. We analyzed CSF samples from 127 subjects with definite sCJD to assess the diagnostic value of 14-3-3 protein, total tau protein, phosphorylated181 tau, and amyloid beta (Aβ) peptide 1-42, either alone or in combination. While the 14-3-3 assay and tau protein levels were the most
CC) Peter Rudge, Zane Jaumuktane, Peter Adlard, Nina Bjurstrom, Diana Caine, Jessica Lowe, Penny Norsworthy, Holger Hummerich, Ron Druyeh, Jonathan D. F. Wadsworth, Sebastian Brandner, Harpreet Hyare, Simon Mead, John Collinge DOI: http://dx.doi.org/10.1093/brain/awv235 First published online: 12 August 2015 Summary Patients with iatrogenic Creutzfeldt-Jakob disease due to administration of cadaver-sourced growth hormone during childhood are still being seen in the UK 30 years after cessation of this treatment. Of the 77 patients who have developed iatrogenic Creutzfeldt-Jakob disease, 56 have been genotyped. There has been a marked change in genotype profile at polymorphic codon 129 of the prion protein gene (PRNP) from predominantly valine homozygous to a mixed picture of methionine homozygous and methionine-valine heterozygous over time. The incubation period of iatrogenic Creutzfeldt-Jakob disease is significantly different between all three genotypes. This experience is a striking contrast ...
1. Dougherty MK, Morrison KD. Unlocking the code of 14-3-3. J Cell Sci 2004; 117(10): 1875-1884. 2. Berg D, Holzmann C, Riess O. 14-3-3 protein in the nervous system. Nat Rev Neurosci 2003; 4(9): 752-762. 3. Hermeking H, Benzinger A. 14-3-3 proteins in cell cycle regulation. Sem Cancer Biol 2006; 16(3): 183-192. 4. Tzivion G, Gupta VS, Kaplun L, Balan V. 14-3-3 proteins as potential oncogenes. Semin Cancer Biol 2006; 16(3): 203-213. 5. World Health Organization. Survillance case definitions for the classification of human transmissible spongiform encephalopathies. In: WHO Manual for Surveillance of Human Transmissible Spongiform Encephalopathies. Geneva: World Health Organization 2003: 71-72. 6. Castellani RJ, Colucci M, Xie Z, Zou W, Li C, Parchi P et al. Sensitivity of 14-3-3 protein test varies in subtypes of sporadic Creutzfeldt-Jakob disease. Neurology 2004; 63(3): 436-442. 7. Cuadrado-Corrales N, Jiménez-Huete A, Albo C, Hortigüela R, Vega L, Cerrato L et al. Impact of the clinical ...
We report the case of a 28 year old man who had received a cadaverous dura mater graft after a traumatic open skull fracture with tearing of the dura at the age of 5 years. A clinical suspicion of Creutzfeldt-Jakob disease (CJD) was confirmed by a brain biopsy 5 months prior to death and by autopsy, thus warranting the diagnosis of iatrogenic CJD (iCJD) according to WHO criteria. Immunohistochemistry showed widespread cortical depositions of disease associated prion protein (PrPsc) in a synaptic pattern, and western blot analysis identified PrPsc of type 2A according to Parchi et al. Surprisingly, we found Alzheimer-type senile plaques and cerebral amyloid angiopathy in widespread areas of the brain. Plaque-type and vascular amyloid was immunohistochemically identified as deposits of beta-A4 peptide. CERAD criteria for diagnosis of definite Alzheimers disease (AD) were met in the absence of neurofibrillar tangles or alpha-synuclein immunoreactive inclusions. There was no family history of AD, ...
Friday, November 23, 2012 sporadic Creutzfeldt-Jakob Disease update As at 5th November 2012 UK, USA, AND CANADA http://creutzfeldt-jakob-disease.blogspot.com/2012/11/sporadic-creutzfeldt-jakob-disease.html kind regards, terry
Variant Creutzfeldt-Jakob disease (vCJD) is a human prion disease resulting from the consumption of meat products contaminated by the agent causing bovine spongiform encephalopathy. Evidence supporting the presence of a population of silent carriers that can potentially transmit the disease through …
The Australian National Creutzfeldt-Jakob disease Registry (ANCJDR) was established in October 1993 to monitor possible medically cases of Creutzfeldt-Jakob disease and subsequently all forms of prion disease including sporadic, familial and the potential occurrence of variant Creutzfeldt-Jakob disease in Australia. This report provides data collected prospectively from 1993 to 2013 and retrospectively to 1970.
I would like to submit a review of past CJD surveillance in the USA, and the urgent need to make all human TSE in the USA a reportable disease, in every state, of every age group, and to make this mandatory immediately without further delay. The ramifications of not doing so will only allow this agent to spread further in the medical, dental, surgical arenas. North America seems to have the most species with documented Transmissible Spongiform Encephalopathys, most all of which have been rendered and fed back to food producing animals and to humans for years. If you look at the statistics, sporadic CJD seems to be rising in the USA, and has been, with atypical cases of the sCJD. I find deeply disturbing in the year of 2009, that Human Transmissible Spongiform Encephalopathy of any strain and or phenotype, of all age groups, and I stress all age groups, because human TSEs do not know age, and they do not know borders. someone 56 years old, that has a human TSE, that has surgery, can pass this ...
In 2001, the observed annual mortality from Creutzfeldt-Jakob disease (CJD) in Switzerland increased from less than 1.5 to 2.6 per million inhabitants. An underlying cause could not be identified. To analyse potential risk factors for sCJD in Switzerland, close relatives of 69 sCJD-patients and 224 frequency age-matched controls were interviewed in a case-control study using a standardised questionnaire. 135 potential risk factors including socio-demographics, medical history, occupation and diet were analysed by logistic regression adjusting for age, sex and education. sCJD patients were more likely to have travelled abroad, worked at an animal laboratory, undergone invasive dental treatment, orthopaedic surgery, ophthalmologic surgery after 1980, regular GP visits, taken medication regularly, and consumed kidney. No differences between patients and controls were found for residency, family history, and exposure to environmental and other dietary factors. Although some factors were significantly more
Surveillance for Creutzfeldt-Jakob disease in China from 2006 to 2007. Qi Shi; Chen Gao; Wei Zhou; Bao-Yun Zhang; Jian-Ming Chen; Chan Tian; Hui-Ying Jiang; Jun Han; Ni-Juan Xiang; Xiao-Fang Wang; Yong-Jun Gao; Xiao-Ping Dong // BMC Public Health;2008, Vol. 8 Issue 1, p360 Background: Human transmissible spongiform encephalopathies (HTSE), or Creutzfeldt-Jakob disease (CJD), is a group of rare and fatal diseases in central nervous system. Since outbreak of bovine spongiform encephalopathy (BSE) and variant CJD, a worldwide CJD surveillance network has been... ...
Variant Creutzfeldt-Jakob disease is almost certainly caused by the bovine spongiform encephalopathy agent, and although the disease is rare (115 deaths to date) there is uncertainty about future numbers of cases.1 The lack of a conventional immune response and the inability to detect abnormal prion protein in blood has hampered the development of a blood test.1 Lymphoreticular accumulation of prion protein has been used as a preclinical test for scrapie (the form of the disease in sheep and goats) and is a consistent feature of variant Creutzfeldt-Jakob disease, occurring before the onset of symptoms.2-4 We screened large numbers of specimens from appendicectomies and tonsillectomies for the presence of prion protein in lymphoreticular tissue to determine the number of people with preclinical variant Creutzfeldt-Jakob disease. ...
Creutzfeldt-Jakob disease (CJD) is the best known of the human prion diseases. Creutzfeldt-Jakob Disease is caused by an infectious prion protein...
FRIDAY, AUGUST 11, 2017 Infectivity in bone marrow from sporadic CJD patients Bioassays in transgenic mice expressing the human prion protein revealed the presence of unexpectedly high levels of infectivity in the bone marrow from seven out of eight sCJD cases. These findings may explain the presence of blood-borne infectivity in sCJD patients. They also suggest that the distribution of prion infectivity in peripheral tissues in sCJD patients could be wider than currently believed, with
Creutzfeldt-Jakob disease (CJD)-the human equivalent of mad cow disease-is caused by rogue, misfolded protein aggregates termed prions, which are infectious and cause fatal damages in the patients brain. CJD patients develop signature microscopic sponge-like holes in their brains. The initial signs of CJD include memory loss, behavior changes, movement disorder and vision problems, which usually rapidly progress to death. According to the National Institutes of Health (NIH), 90 percent of CJD patients die within one year of onset, and hundreds of Americans are diagnosed annually. There is no available treatment or cure.. There are numerous types of prion diseases in humans, and CJD is the most common. About 90 percent of CJD cases have a sporadic origin. Prion infectivity is highly concentrated in CJD patient brain tissue. Inter-personal CJD transmission has occurred after patients were exposed to surgical tools previously contaminated by CJD brain tissues.. But in a Science Translational ...
Results 125 children were born to parents with a diagnosis of vCJD. Nine of these children were born to females with vCJD who were symptomatic at conception, birth or within a year of clinical onset. Only one woman was known to have breast fed her child. None of the children of vCJD cases have been referred to the National CJD Surveillance Unit as suspected vCJD and none have been classified as suffering from a progressive neurodegenerative disorder through the Progressive Intellectual and Neurological Deterioration study. One of the children has been investigated by the National Prion Unit (see accompanying case report). ...
Neena Singh, MD, PhD and colleagues at Case Western Reserve University School of Medicine have identified the first disease-specific biomarker for sporadic Creutzfeldt-Jakob disease (sCJD), a universally fatal, degenerative ...
TY - JOUR. T1 - Prion strain characterization of a novel subtype of Creutzfeldt-Jakob disease. AU - Galeno, Roberta. AU - Di Bari, Michele Angelo. AU - Nonno, Romolo. AU - Cardone, Franco. AU - Sbriccoli, Marco. AU - Graziano, Silvia. AU - Ingrosso, Loredana. AU - Fiorini, Michele. AU - Valanzano, Angelina. AU - Pasini, Giulia. AU - Poleggi, Anna. AU - Vinci, Ramona. AU - Ladogana, Anna. AU - Puopolo, Maria. AU - Monaco, Salvatore. AU - Agrimi, Umberto. AU - Zanusso, Gianluigi. AU - Pocchiari, Maurizio. PY - 2017/6/1. Y1 - 2017/6/1. N2 - In 2007, we reported a patient with an atypical form of Creutzfeldt- Jakob disease (CJD) heterozygous for methionine-valine (MV) at codon 129 who showed a novel pathological prion protein (PrPTSE) conformation with an atypical glycoform (AG) profile and intraneuronal PrP deposition. In the present study, we further characterize the conformational properties of this pathological prion protein (PrPTSE MVAG), showing that PrPTSE MVAG is composed of multiple ...
Variants of the disease may cause slightly different symptoms. Individuals affected by new variant Creutzfeldt-Jakob disease or nv-CJD typically experience psychiatric symptoms with the disease running a longer course from the initial manifestation of symptoms up until death. This form of the disease typically affects younger people.. Causes of the disease. There are different theories on what causes the disease. The currently accepted theory suggests that the disease is caused by a prion, a type of protein. Prions are usually harmless and are found within the cells of the body. There are some forms of prions that are infectious. It is believed that the normal inactive prions may, by a mechanism unknown, change into infectious prions and modify other prion proteins within the cells causing the development of the disease. The prions bond to each other forming the spongelike structures that induce brain degeneration.. Inherited CJD arises when there is a mutation within the genes that code for ...
Researchers from the University of Edinburgh have developed a new system to study Creutzfeldt-Jakob disease (CJD) in vitro. The work, funded by an NC3Rs project grant, has been published in The Journal of Experimental Medicine. CJD is a fatal neurodegenerative condition associated with misfolding of the normal form of the prion protein, similar to Bovine Spongiform Encephalopathy (BSE) in cows and Chronic Wasting Disease in deer. Until now, the main way to study the human form of the disease has been in animals, including in transgenic mice, sheep and non-human primates. These animal transmission studies are inherently variable, require large numbers of animals and can be assosiated with significant levels of suffering. The absence of a more relevant, human cell culture model which replicates human prions has hampered prion disease research. The team, led by Professor Siddharthan Chandran, has devised a new method of studying prion infection in astrocytes derived from human induced pluripotent stem
Researchers from the University of Edinburgh have developed a new system to study Creutzfeldt-Jakob disease (CJD) in vitro. The work, funded by an NC3Rs project grant, has been published in The Journal of Experimental Medicine. CJD is a fatal neurodegenerative condition associated with misfolding of the normal form of the prion protein, similar to Bovine Spongiform Encephalopathy (BSE) in cows and Chronic Wasting Disease in deer. Until now, the main way to study the human form of the disease has been in animals, including in transgenic mice, sheep and non-human primates. These animal transmission studies are inherently variable, require large numbers of animals and can be assosiated with significant levels of suffering. The absence of a more relevant, human cell culture model which replicates human prions has hampered prion disease research. The team, led by Professor Siddharthan Chandran, has devised a new method of studying prion infection in astrocytes derived from human induced pluripotent stem
Creutzfeldt-Jakob disease or CJD, (Hans Gerhard Creutzfeldt, 1885 - 1964, German psychiatrist and Alfons Maria Jakob, 1884 - 1931, German psychiatrist) (also called subacute spongiform encephalopathy), is a rare, well characterized clinicopathological entity defined by a rapidly progressing dementia associated with pathognomonic vacuolation in the cortex giving a microscopic appearance of spongiform change. Both humans and animals may be affected.
RATIONALE FOR SURVEILLANCE: The incidence of Creutzfeldt-Jakob Disease (CJD) and its variants is not currently monitored in many parts of the world. In 1996 a new variant of CJD (nvCJD) was recognized in the United Kingdom. An etiological link has since been confirmed between nvCJD and the agent of bovine spongiform encephalopathy (BSE). The size of the population exposed and susceptible to this agent in the United Kingdom is not known; this, in addition to uncertainties relating to the potential length and distribution of the incubation period, complicate any useful prediction of the future number of nvCJD cases. Other populations may have also been exposed to the agent through importation of live cattle or cattle by-products from BSE-affected countries, or through the use of medicinal or cosmetic products containing affected bovine tissues. Global surveillance of the new variant and other forms of CJD shall lead to a better understanding of the disease, including potential causes of iatrogenic ...
Variably protease sensitive prionopathy (VPSPr) is a recently described, sporadic human prion disease that is pathologically and biochemically distinct from the currently recognised sporadic Creutzfeldt-Jakob disease (sCJD) subtypes. The defining biochemical features of the abnormal form of the prion protein (PrPSc) in VPSPr are increased sensitivity to proteolysis and the presence of an N- and C-terminally cleaved ~8 kDa protease resistant PrPSc (PrPres) fragment. The biochemical and neuropathological profile of VPSPr has been proposed to resemble either Gerstmann-Sträussler-Scheinker syndrome (GSS) or familial CJD with the PRNP-V180I mutation. However, in some cases of VPSPr two protease resistant bands have been observed in Western blots that co-migrate with those of type 2 PrPres, suggesting that a proportion of the PrPSc present in VPSPr has properties similar to those of sCJD. Here, we have used conformation dependent immunoassay to confirm the presence of PrPSc in VPSPr that is more protease
A panel of national experts and scholars in the field of bovine spongiform encephalopathy (BSE), also known as "mad cow disease," will speak at a day-long conference on the status of U.S. defenses against the spread of the disease on Thursday, Oct. 6, from 9 a.m. to 4 p.m., in Konover Auditorium. "The Mad Cow and related TSE Diseases: Science, Risks and Public Policy" conference, sponsored by UConns Center for Environmental Health, is intended to assess the best currently available knowledge on the health, social, and economic impacts of mad cow disease nationwide and summarize both the scientific evidence and uncertainties surrounding mad-cow-related diseases. Mad cow disease causes spongy holes in the brain. In humans, a rare form of the always-fatal ailment called new variant Creutzfeldt-Jakob disease has been linked to eating beef products infected with mad cow. The disease has killed about 150 people worldwide, mostly in Britain. Mad cow disease is spread when cows are fed parts of other ...
Summary: Creutzfeldt-Jakob disease (CJD) Magnetic resonance imaging (MRI) of the brain showed gyriform increased signal intensity in the left pari...
... is a degenerative, rare and invariably fatal disorder of the brain, usually appearing in later life and running a rapid course, symptoms resembling those of other dementia-like brain disorders, such as Alzheimers. This is the forum for discussing anything related to this health condition
Creutzfeldt-Jakob Disease (CJD) - This archives is presented to assist our visitors in taking a pro-active part in their own health
... include forgetfulness and nervousness, jerky, trembling hand movements, unsteady gait, myoclonus.
Creutzfeldt-Jakob Disease is a degenerative brain disease that has no cure and is always fatal. The good news, though, is that it affects only about one person in a million and it is relatively ...
Learn more about Creutzfeldt-Jakob Disease at Reston Hospital Center DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Learn more about Creutzfeldt-Jakob Disease at TriStar Southern Hills DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Learn more about Creutzfeldt-Jakob Disease at TriStar Centennial Parthenon Pavilion DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Creutzfeldt-Jacob disease should be considered in the setting of a rapidly progressive dementia with psychiatric symptoms, ataxia, mutism, myoclonus, and pyramidal or extrapyramidal signs. 1
Aims Creutzfeldt-Jakob disease (CJD) is a rapid progressive neurological disease leading to dementia and death. Prion biomarkers are altered in the cerebrospinal fluid (CSF) of CJD patients, but the pathogenic mechanisms underlying these alterations are still unknown. The present study examined prion biomarker levels in the brain and CSF of sporadic CJD (sCJD) cases and their correlation with neuropathological lesion profiles. Methods The expression levels of 14-3-3, Tau, phospho-Tau and α-synuclein were measured in the CSF and brain of sCJD cases in a subtype- and region-specific manner. In addition, the activity of prion biomarker kinases, the expression levels of CJD hallmarks and the most frequent neuropathological sCJD findings were analysed. Results Prion biomarkers levels were increased in the CSF of sCJD patients; however, correlations between mRNA, total protein and their phosphorylated forms in brain were different. The observed downregulation of the main Tau kinase, GSK3, in sCJD ...
I would like to submit a review of past CJD surveillance in the USA, and the urgent need to make all human TSE in the USA a reportable disease, in every state, of every age group, and to make this mandatory immediately without further delay. The ramifications of not doing so will only allow this agent to spread further in the medical, dental, surgical arenas. North America seems to have the most species with documented Transmissible Spongiform Encephalopathys, most all of which have been rendered and fed back to food producing animals and to humans for years. If you look at the statistics, sporadic CJD seems to be rising in the USA, and has been, with atypical cases of the sCJD. I find deeply disturbing in the year of 2009, that Human Transmissible Spongiform Encephalopathy of any strain and or phenotype, of all age groups, and I stress all age groups, because human TSEs do not know age, and they do not know borders. someone 56 years old, that has a human TSE, that has surgery, can pass this ...
(CIDRAP News) Britains health secretary reported this week what could be the worlds first case of a person contracting variant Creutzfeldt-Jakob disease (vCJD) from a blood transfusion. John Reid told the House of Commons that a person who died recently of vCJD had received blood in 1996 from a donor who became ill with vCJD in 1999 and died soon afterward.
Background: Clinical diagnosis of CJD remains important due to lack of access to a genetic or histopathological diagnosis. Using current WHO criteria, diagnostic certainty can be increased from "possible" to "probable" CJD if periodic complexes are recorded on EEG. Objective: To study the correlation between patterns of MRI-DWI hyperintensity and typical EEG findings among patients with CJD. Methods: Demographics, clinical findings, MRI-DWI and EEG findings of CJD patients were retrospectively reviewed. Results: A total of 14 patients ranging in age from 35 to 81 years were identified. All had dementia and cerebellar ataxia. Psychiatric manifestations were seen in 5 patients. Seven patients had both cortical and striatal DWI changes, five had isolated cortical DWI changes and two had isolated striatal DWI changes. All twelve patients with cortical DWI changes also had periodic EEG changes. In ten, periodic EEG was recorded within seven days of the DWI. The two patients with isolated striatal DWI ...
BALTIMORE -- The first U.S. treatment trial for sporadic Creutzfeldt-Jakob disease (CJD) has shown that quinacrine does not extend survival compared with placebo.
Health,A role for prion proteins the much debated agents of mad cow disease ...The possible function for the mysterious proteins was discovered by...Alzheimers and diseases like variant Creutzfeldt-Jakob Disease f...Our experiments have shown that the normal prion proteins found ...He continues: In vCJD the normal version of prion protein PrPc...,Prions,,Prevent,Alzheimers,Disease,medicine,medical news today,latest medical news,medical newsletters,current medical news,latest medicine news
The implications of this research, identify hemin as a potential therapeutic target for sporadic Creutzfeldt-Jakob disease (CJD) and cerebral hemorrhage.
LONDON -- Surgery is a possible pathway for a self-sustaining epidemic of variant Creutzfeldt-Jakob Disease (vCJD), according to researchers here.
in JAMA Neurology (2015). IMPORTANCE Although typical forms of Alzheimer disease (AD) and Creutzfeldt-Jakob disease (CJD) are clinically distinguishable, atypical AD phenotypesmay pose a diagnostic challenge. The major biological ... [more ▼]. IMPORTANCE Although typical forms of Alzheimer disease (AD) and Creutzfeldt-Jakob disease (CJD) are clinically distinguishable, atypical AD phenotypesmay pose a diagnostic challenge. The major biological diagnostic biomarker for identifying CJD, 14-3-3 protein in cerebrospinal fluid (CSF), unfortunately lacks specificity when confronting a rapid dementia presentation. OBJECTIVE To assess the relevance of total CSF prion protein (t-PrP) levels in the differential biological diagnosis between atypical AD phenotypes and CJD. DESIGN, SETTING, AND PARTICIPANTS A retrospective study in an autopsy-confirmed cohort of 82 patients was performed to evaluate the relevance of CSF t-PrP to distinguish 30 definite cases of AD from 52 definite cases of CJD. Next, CSF ...
Although the fact that Mad Cow disease causes variant CJD had already been strongly established, researchers at the University College of London nevertheless created transgenic mice complete with humanized brains genetically engineered with human genes to try to prove the link once and for all. When the researchers injected one strain of the humanized mice with infected cow brains, they came down with the same brain damage seen in human variant CJD, as expected. But when they tried this in a different strain of transgenic humanized mice, those mice got sick too, but most got sick from what looked exactly like sporadic CJD! The Mad Cow prions caused a disease that had a molecular signature indistinguishable from sporadic CJD. To the extent that animal experiments can simulate human results, their shocking conclusion was that eating infected meat might be responsible for some cases of sporadic CJD in addition to the expected variant CJD. The researchers concluded that it is therefore ...
Each year around 200 blood donors in the UK are found to be infected with blood-borne diseases (HIV, hepatitis B, hepatitis C, and HTLV), while several others have been identified as having an increased risk of variant Creutzfeldt-Jakob Disease (vCJD). Although the notification procedures for these infections vary, their effectiveness and appropriateness have never been evaluated in a systematic study.. The proposed research has been designed to assess the responses of blood donors to notification and their satisfaction with how they were informed about the infection. The study will be implemented using standard questionnaire-based measures (French et al, 2004; Marteau & Bekker, 1992).. The study will involve approximately 600 blood donors who were informed of an infection or possible infection with blood-borne diseases in 2008 and 2009, and approximately 100 donors notified of possible risk of vCJD infection in 2005. A comparable group of 2005 donors will be included to control for the effects ...
Each year around 200 blood donors in the UK are found to be infected with blood-borne diseases (HIV, hepatitis B, hepatitis C, and HTLV), while several others have been identified as having an increased risk of variant Creutzfeldt-Jakob Disease (vCJD). Although the notification procedures for these infections vary, their effectiveness and appropriateness have never been evaluated in a systematic study.. The proposed research has been designed to assess the responses of blood donors to notification and their satisfaction with how they were informed about the infection. The study will be implemented using standard questionnaire-based measures (French et al, 2004; Marteau & Bekker, 1992).. The study will involve approximately 600 blood donors who were informed of an infection or possible infection with blood-borne diseases in 2008 and 2009, and approximately 100 donors notified of possible risk of vCJD infection in 2005. A comparable group of 2005 donors will be included to control for the effects ...
Free Online Library: Variably protease-sensitive prionopathy, a unique prion variant with inefficient transmission properties.(RESEARCH) by Emerging Infectious Diseases; Health, general Creutzfeldt-Jakob disease Analysis Disease transmission Genetic engineering Prions Prions (Proteins) Proteases
LONDON - If the fates of former cannibals in New Guinea are an accurate indicator, British citizens may have a half-century to worry about whether they ate beef in the 1990s tainted with prion proteins that will lead one day to variant Creutzfeldt-Jakob disease. 1
LONDON - If the fates of former cannibals in New Guinea are an accurate indicator, British citizens may have a half-century to worry about whether they ate beef in the 1990s tainted with prion proteins that will lead one day to variant Creutzfeldt-Jakob disease. 1
RhoGAM and MICRhoGAM are made from human blood and therefore, carry a risk of transmitting infectious agents, such as viruses, the agent of the variant Creutzfeldt-Jakob disease (vCJD), or unknown infectious agents. You should consult with your healthcare provider if you have any questions or concerns.. Reactions to RhoGAM or MICRhoGAM that affect the entire body are extremely rare. However allergic responses to RhoGAM or MICRhoGAM may occur. You should be observed for at least 20 minutes after administration for early signs of an allergic reaction. Signs and symptoms of an allergic reaction include itchy rash (hives), tightness of the chest, wheezing, low blood pressure and anaphylaxis (which may also include throat or tongue swelling, shortness of breath, vomiting, hives and/or lightheadedness).. The most common side effects of RhoGAM and MICRhoGAM are swelling, hardening, redness, and mild pain at the site of the injection. A small number of patients have noted a slight fever.. Your ...
CIDRAP News) United Kingdom health officials this week began telling several thousand Britons they may face a slightly increased risk of contracting variant Creutzfeldt-Jakob disease (vCJD) because they received blood products from donors who later were found to have the disease. ...
In 2005, the first case of variant Creutzfeldt-Jakob disease (vCJD) was reported in Spain, in a woman born in 1978 with clinical onset of symptoms in 2004 [1]. She subsequently died in 2005.
The Direcção-Geral da Saúde (Department for Health) was recently informed of the first probable case of variant Creutzfeldt-Jakob disease (vCJD) in Portugal
Professor John Hardy (UCL Molecular Neuroscience) comments on a new report by the Science and Technology Committee into variant Creutzfeldt-Jakob disease (vCJD), saying that vigilance needs to be maintained to prevent the diseases re-emergence through medical infections. Read: BBC News, More: Telegraph, Guardian ...
A Texas man has died of the fatal brain illness variant Creutzfeldt-Jakob Disease, the fourth person to die of the disease in the United States, according to the Centers for Disease Control.
[email protected] This website was made possible by a generous donation from Cookie Stivison, in memory of her husband Tom Stivison, and a grant from the Centers for Disease Control and Prevention.. ...
The journal focuses on neuroimmunology and neuroinflammation, and the coverage extends to other basic and clinical studies related to neuroscience including molecular biology, psychology, pathology, physiology, endocrinology, pharmacology, oncology, etc.
Dear Robert: This is an answer to your post and Richard Kerrs post and one by James McIninch who evidently is a Georgia Tech student. Perhaps I can answer them all by quoting a letter from George L. Tritsch , Ph.D. (Ph.D. in biochemistry, Pursue University, 1954) who quotes a recent article from a very well respected journal (Cancer Research) and it is as recent as June 1995. I do not know Dr. Tritsch but he gives his credentials as: 1954-56: Department of Biochemistry, Cornell Medical College, New York 1956-59 Rockefeller University, New York 1959-1995 Cancer Research Scientist of Roswell Park Center Institute, Buffalo, New York April-95 Retired There has been a great deal of discussion about the insulin growth factor and this discusses IGF as I understand it and as Robert Cohen understands it, and has declared to the FDA: I am disturbed by the statement made by Land OLakes and Cabot Creamery that there is a modest rise in IGF-1 concentration in milk produced by BST-supplemented cows. They ...
BACKGROUND: Transmission of variant Creutzfeldt-Jacob disease (vCJD) is a major concern in blood transfusion. The P-Capt filter has been shown to remove around 4 log ID50 prion infectivity from prion-spiked human red blood cells (RBCs).. STUDY DESIGN AND METHODS: Two independent, single-center, randomized, open-label studies were designed to analyze the safety of P-Capt-filtered RBCs. RBCs prepared from leukoreduced whole blood from 43 eligible subjects were randomly assigned to P-Capt filtration and/or storage in plasma or SAGM and stored for 28 or 42 days. Stored RBCs were analyzed for in vivo 24-hour recovery, hemolysis, metabolic variables, blood group antigen expression, neoantigen formation, and safety after autologous infusion.. RESULTS: Mean P-Capt filtration times for leukoreduced RBCs were 41 (SAGM) to 51 (plasma) minutes. Thirteen of 14 subjects receiving P-Capt-filtered RBCs had 24-hour RBC recoveries of 75% or more after 42-day storage, with a mean hemolysis of less than 0.6%. No ...
There are multiple etiologies that could potentially cause the sub-acute neurological decline in "Rapidly-Progressive Dementias." First, there are complications of medical conditions that can cause a subacute decline, including metabolic, infectious, inflammatory, neoplastic or vascular conditions. Each of these disease categories have specific treatment strategies that are important to identify early in the disease course. Examples of medical conditions that could cause a rapid decline in cognition include thyroid abnormalities, auto-immune diseases (i.e. the bodys immune system attacking itself as in systemic lupus erythematosis), infections of the nervous system (i.e.meningitis), and cardiac or pulmonary insufficiency. Second, there are conditions that specifically target the central nervous system. Examples include the neurodegenerative condition subacute spongiform encephalopathy, or Creutzfeldt-Jakob disease, auto-immune diseases of the central nervous system (i.e. anti-NMDA ...
Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) can be supported by the analysis of Tau and 14-3-3 in the cerebrospinal fluid (CSF). In this short report, we report about a retrospective analysis performed on 2,296 routinely collected CSF samples, and 44 samples with a ratio of phosphoTau181/Tau 100,000 AU/mL, while 10 out of 12 suspected CJD samples with 14-3-3 CSF levels between 50,000-100,000 AU/mL were CJD positive. All samples with 14-3-3 levels between 15,000 and 50,000 AU/mL were not CJD cases but disorders with complex neuropathology. In conclusion, our data suggests that in CSF samples with a phospho-Tau-181/Tau ratio Pharmacology 2017;100:243- ...
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A Natural Approach To Health Living With Creutzfeldt-Jakob I had a question the other day about Creutzfeldt-Jakob disease. Creutzfeldt-
Inherited prion diseases (IPDs), including genetic Creutzfeldt-Jakob disease (gCJD), account for 10-15% of cases of prion diseases and are associated with several pathogenic mutations, including P102L, V180I, and E200K, in the prion protein gene (PRNP). …. ...
This disease is also known as spongiform encephalopathy (describing the typical microscopic changes in affected brain tissue). It is transmitted by a protein agent known as a prion (proteinaceous infectious agent) that resembles one of the genes in structure. About 90% of cases are sporadic and 5%-15% are hereditary with autosomal dominant transmission. In the hereditary form a gene with point mutation appears to be the cause. The sporadic cases do not show a detectable gene mutation and the mechanism of disease is not known. A similar disease in sheep is called scrapie. Another similar disease in New Guinea tribesmen was known as kuru. In C-J disease, most patients develop symptoms at age 40-60 years (so-called presenile dementia). Symptoms resemble those of Alzheimers disease to some degree, but the disease progresses much more rapidly and 90%-95% of patients die within one year. Besides mental changes there is ataxia and myoclonal muscle contractions. The major brain area affected is the ...
Royalty free and rights managed images of prions. Prions are abnormal proteins that are the cause of transmissible spongiform encephalopathies (TSEs), such as BSE in cows, scrapie in sheep and CJD (Creutzfeldt-Jakob disease) in humans. They cause fatal brain and nerve degeneration. Images include laboratory research, illustrations, molecular models, and light micrographs of affected brain tissue. - 48 per page (session default) - first page of 4
Loi sur la protection et la promotion de la santé. ONTARIO REGULATION 338/96. EXEMPTION - SUBSECTION 39 (1) OF THE ACT. Historical version for the period August 28, 2006 to July 26, 2007.. Last amendment: O. Reg. 412/06. This Regulation is made in English only.. 1. Subsection 39 (1) of the Act does not apply to disclosure by a physician, the Chief Medical Officer of Health or a medical officer of health to the Canadian Blood Services if,. (a) there are reasonable grounds to believe that the person who is the subject of the disclosure has received a blood transfusion or a blood product from the Canadian Blood Services or has donated blood to the Canadian Blood Services; and. (b) the application, order, certificate or report concerns,. (i) Acquired Immune Deficiency Syndrome (AIDS),. (ii) Human Immunodeficiency Virus (HIV), the agent of AIDS,. (iii) Hepatitis C,. (iv) Transmissible Spongiform Encephalopathy, including,. (A) Creutzfeldt-Jakob Disease, all types,. (B) ...
... : This is the website to the hugely respected and single most important international reference book on prions and prion diseases in humans and animals covering all aspects. Written by 80 internationally known scientists from over 40 institutions and universities. Our goal was to present an extremely complex field in a language comprehensible to all. Prion diseases consist of BSE, Mad Cow Disease, CJD, Creutzfeldt-Jakob Disease etc.
Creutzfeldt-Jakob disease (CJD) is a deadly prion disease; a prion is a protein that has an abnormal shape (which is very bad, toxic) and has the capacity of infecting other proteins so that the normal proteins became prions themselves. Between 1958 and 1985, several tens of thousands people - mostly children - received growth hormone injections…
The single greatest risk factor for most neurodegenerative diseases (NDs), including Alzheimer (AD) and Parkinson (PD) diseases, is age. With increasing life expectancy, the lack of drugs to treat NDs represents an expanding socioeconomic burden. Most NDs appear to be caused by alternatively folded proteins, which undergo self-propagation. This mechanism of conformational propagation was first described for the prototypical prion protein (PrP), which causes uncommon disorders, including Creutzfeldt-Jakob disease (CJD). The conformational conversion of normal cellular, predominantly α-helical PrP (PrPC) into a pathogenic, β-sheet-rich isoform (PrPSc) is accompanied by changes in physical properties-most notably resistance to proteases (Prusiner, 1998).. The PrP prions cause disease not only in humans but also in a number of commercially important animal species, including cattle, sheep, and deer. Moreover, prions can be transmitted to small animals, including mice, hamsters, and rats, to ...
The neuronal expression and regulated proteolysis of the normal, cellular prion protein (PrPc) are essential for the maintenance of peripheral myelin, according to an international team of researchers from institutions including Cal Tech and the University Hospital of Zurich. The integrity of peripheral nerves depends on communication between axons and the Schwann cells that produce myelin. Myelin insulates peripheral nerve axons and speeds electrical transmission. The axon signals that ensure myelin maintenance are distinct from those that direct myelination and are largely unknown, the authors wrote. The normal function of PrPc--that when misfolded into the scarpie-associated form (PrPsc) causes various transmissible fatal neurodegenerative diseases, including scrapie in sheep, mad cow disease in cattle, and Creutzfeldt-Jakob disease in humans--is also unknown. The current results appear to represent progress toward solving, at least in part, both of these puzzles. The authors showed that ...
While testing wild strains of yeast containing prions, researchers at MIT discovered that prions awaken dormant stretches of genes that can help the yeast survive environmental stresses and that those new traits can be passed on to offspring, contributing to evolution in an unexpected way.. Misfolded proteins called prions are best known for causing neurodegenerative disorders such as Creutzfeldt-Jakob disease and mad cow disease. However, a new study by scientists at MITs Whitehead Institute finds that they can also play a much more beneficial role.. The research team, led by Susan Lindquist, has shown that in yeast, prions awaken dormant stretches of genes that can help the yeast survive environmental stresses. Furthermore, those new traits can be passed on to offspring, contributing to evolution in an unexpected way.. Lindquist, a professor of biology at MIT, first proposed this evolutionary mechanism more than a decade ago, but many scientists resisted the idea because no one could find ...
This work illustrates the enhancement of the sensitivity of the ELISA titration for recombinant human and native prion proteins, while reducing other non-specific adsorptions that could increase the background signal and lead to a low sensitivity and false positives. It is achieved thanks to the association of plasma chemistry and coating with different amphiphilic molecules bearing either ionic charges and/or long hydrocarbon chains. The treated support by 3-butenylamine hydrochloride improves the signal detection of recombinant protein, while surface modification with the 3,7-dimethylocta-2,6-dien-1-diamine (geranylamine) enhances the sensitivity of the native protein. Beside the surface chemistry effect, these different results are associated with protein conformation.
Creutzfeldt-Jakob disease [cjd] below. Prions are, however, inactivated by protein- and lipid-disrupting agents such as phenol, ether, NaOH, and hypochlorite
Because of the medical and public health significance and the urgency associated with Creutzfeldt-Jakob disease and other neurodegenerative disorders, such Alzheimers disease and Parkinsons disease, in the last few years I focused on developing the ideas associated with the paper "Endogenous Viral Etiology of Prion Diseases" (see the comments section of the paper at: http://precedings.nature.com/documents/3887/version/1 and a recent summary posted at: http://www.alzforum.org/res/adh/cur/bandea/default.asp). The strength of the new unifying hypothesis that it is fully consistent with the vast amounts of experimental data and observations in these fields and that it explains many of their puzzling features; moreover, unlike the current working hypotheses, it makes biological and evolutionary sense. The new paradigm, however, challenges the prion hypothesis and the protein misfolding concept, which have directed most of the work in these fields for decades. As you can imagine, challenging these ...
Important Safety Information. RhoGAM® Ultra-Filtered PLUS [Rho(D) Immune Globulin (Human)] (300 μg) and MICRhoGAM® Ultra-Filtered PLUS [Rho(D) Immune Globulin (Human)] (50 μg) are indicated for the prevention of Rh immunization, including during and after pregnancy and other obstetrical conditions or incompatible transfusion of Rh-positive blood.. RhoGAM® and MICRhoGAM® are made from human plasma. Since all plasma-derived products are made from human blood, they may carry a risk of transmitting infectious agents, e.g., viruses, and theoretically the Creutzfeldt-Jakob disease (CJD) agent.. RhoGAM® and MICRhoGAM® are intended for maternal administration. Do not inject the newborn infant. Local adverse reactions may include redness, swelling, and mild pain at the site of injection and a small number of patients have noted a slight elevation in temperature. Patients should be observed for at least 20 minutes after administration.. RhoGAM® and MICRhoGAM® contain a small quantity of IgA and ...
The preliminary structure of the misfolded protein that causes mad cow disease and Creutzfeldt-Jakob disease looks like a coiled mattress spring.
Database tracking CJD victims in the geographical areas in which they lived, as well as other relevant information. Plus latest news. Versions in Spanish and Swedish. ...
Lindquist is best known for her research that provided strong evidence for a new paradigm in genetics based upon the inheritance of proteins with new, self-perpetuating shapes rather than new DNA sequences. This research provided a biochemical framework for understanding other mysteries in biology, such as Alzheimers disease and Creutzfeldt-Jakob disease. She is considered an expert in protein folding which, as explained by Lindquist in the following excerpt, is an ancient, fundamental problem in biology:. Lindquist worked on the PSI+ element in yeast (a prion) and how it can act as a switch that hides or reveals numerous mutations throughout the genome, thus acting as an evolutionary capacitor. She also proposed that a heat shock protein, hsp90, may act in the same way, normally preventing phenotypic consequences of genetic changes, but showing all changes at once when the HSP system is overloaded, either pharmacologically or under stressful environmental conditions. Most of these variations ...
Alzheimers, Parkinsons and Creutzfeldt-Jakob disease are associated with inappropriate protein deposition and ordered amyloid fibril assembly. Molecular chaperones, including αBcrystallin, play a role in the prevention of protein deposition. A series of site-directed mutants of the human molecular chaperone, αB-crystallin, were constructed which focused on the flexible C-terminal extension of the protein. We investigated the structural role of this region as well as its role in the chaperone function of αB-crystallin under different types of protein aggregation, i.e. disordered amorphous aggregation and ordered amyloid fibril assembly. It was found that mutation of lysine and glutamic acid residues in the C-terminal extension of αB-crystallin resulted in proteins that had improved chaperone activity against amyloid fibril forming target proteins compared to the wild-type protein. Together, our results highlight the important role of the C-terminal region of αB-crystallin in regulating its
See on Scoop.it - Tracking the FutureResearchers at Chalmers University of Technology in Sweden, together with researchers at the Polish Wroclaw University of Technology, have made a discovery that may lead to the curing of diseases such as Alzheimers, Parkinsons and Creutzfeldt-Jakob disease (the so called mad cow disease) through photo therapy.The researchers discovered that…
Thousands of people confound the global medical profession with inexplicable symptoms each year. Steve Farrar reports on the diagnostic nightmare haunting hospitals and leaving patients in despair. It was when she started losing her memory and a tingling sensation spread over her body that Emma started to get really scared. "I thought it might be Creutzfeldt-Jakob disease," she recalls. "I was convinced I was going to die and I even began preparing to write my will." For some months she had been aware that something was wrong. Her ordeal began last July with dizzy spells, followed by numbness, difficulty breathing and heart palpitations. Her doctors were baffled as to what lay behind the symptoms. By February this year, her health had deteriorated to the extent that Emma, a sociable and sports-loving young woman, had to stop work. She moved back in with her parents so they could care for her as even the simplest of tasks had become a major undertaking. "I felt out of control and absolutely ...
인간광우병 ( vCJD ) 역학과 전망. 성균관의과대학 사회의학교실 정해 관. 내용. 인간 Prion 병의 기원과 특징 vCJD 유행의 역학적 양 상 국내 vCJD 의 전파가능성과 전파경로 국내 전파 가능 경로 한국인의 특성 발병 확률 예방대 책. Prion 병의 기원과 분류. Sheep. Cattle. Human. Scrapie. BSE. vCJD. UK Others. 1986. 1993. 1700s. CJD. TME. Global. Mink USA. ?. 1921. Slideshow 2639364 by lupita
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Key quote "One possibility is that the incubation periods are very, very long and so they may occur at a later date. The worst-case scenario is that these individuals could infect other people through blood donation or surgery and we could get into a situation where vCJD is self-sustaining." - Professor James Ironside, of the National CJD Surveillance Unit
... (SUNDAY TIMES 22/2/1998). by Lois Rogers and Bryan Christie THE government is preparing to warn doctors that British blood products, including vaccines given to children, could be at risk of contamination from CJD, the human form of mad cow disease. A letter being drafted by Ken Calman, the chief medical officer, will reveal that scientific advisers to a European medical committee meeting this week have concluded that all products derived from British blood - including vaccines - could transmit the disease. British experts on CJD are anxious to emphasise that the life-saving benefits of blood transfusions and vaccinations against killer diseases far outweigh the risk of CJD, which is believed to be minimal. However, the newly identified form of beef-related CJD can theoretically pass from person to person and could be more infectious than classic CJD. The expert report will be presented to a meeting of the Committee on Proprietary ...
Brown J, Gydesen S, Johannsen P, Gade A, Skibinski G, Chakrabarti L, Brun A, Spillantini M, Yancopoulou D, Thusgaard T, Sorensen A, Fisher E, Collinge J. Dement Geriatr Cogn Disord 2004; 17: 274-6. Human prion protein with valine 129 prevents expression of variant CJD phenotype ...
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About Linköping University Electronic Press Linköping University Electronic Press, LiU E-Press, is an Open Access publisher with the aim to make the research at LiU as visible as possible, internally, nationally and, most important, internationally and it is a part of the LiU marketing. LiU E-Press supply students and researchers with support and service about the publishing strategy at LiU ...
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ISSNs: 1520-6106, 1520-5207. Additional searchable ISSN (Electronic): 1089-5639. American Chemical Society, United States. BFI (2017): BFI-level 1, Scopus rating (2016): CiteScore 3.03 SJR 1.348 SNIP 1.02, ISI indexed (2013): ISI indexed yes, Web of Science (2017): Indexed yes. Central database. Journal ...
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Abnormal prions - misshapen versions of normal brain proteins - may not be infectious agents, but a consequence of prion diseases
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It is sometimes forgotten that in the story of bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease there is but one incontestable fact, that bovine spongiform encephalopathy is the cause of variant Creutzfeldt-Jakob disease. First suggested by their temporospatial association and the distinctive features of variant Creutzfeldt-Jakob disease, the link has since been proved by their equally distinctive and shared biological and molecular features.1-3 All the rest is speculation, more or less plausible according to the arguments advanced and the absence of any satisfactory alternative explanations.. From an epidemiological point of view bovine spongiform encephalopathy has been a classic epidemic and will undoubtedly become a textbook example for students (fig 1). From economic, political, and medical points of view it has been an unmitigated disaster. Why did it begin when it did, and how did it happen? ...
Looking for online definition of Creutzfeldt-Jakob disease in the Medical Dictionary? Creutzfeldt-Jakob disease explanation free. What is Creutzfeldt-Jakob disease? Meaning of Creutzfeldt-Jakob disease medical term. What does Creutzfeldt-Jakob disease mean?
The initial symptoms of vCJD are more psychiatric in nature, which often leads to a misdiagnosis. The initials symptoms include depression, withdrawal, anxiety, and trouble sleeping. After a few short months the infected individual will experience muscle spasms and a lack of muscle control. As the disease rapidly progresses, patients will generally experience visual deterioration, dementia, and muscle paralysis. In contrast to traditional forms of CJD, vCJD affects younger patients, the median age being 28 years and the median duration of illness approximately 13-14 months. The majority of vCJD cases have occurred in the United Kingdom. However, a very limited number of cases have also been reported in several European countries as well as Japan, Taiwan, Saudi Arabia, Canada, and the United States ...
Looking for online definition of iatrogenic transmission in the Medical Dictionary? iatrogenic transmission explanation free. What is iatrogenic transmission? Meaning of iatrogenic transmission medical term. What does iatrogenic transmission mean?
The study results, reported by NIH scientists at the National Institute of Allergy and Infectious Diseases (NIAID), are similar to findings from two newly reported human cases of the prion disease Gerstmann-Straussler-Scheinker syndrome (GSS). This finding represents a new mechanism of prion disease brain damage, according to study author Bruce Chesebro, M.D., chief of the Laboratory of Persistent Viral Diseases at NIAIDs Rocky Mountain Laboratories.. Prion diseases, also known as transmissible spongiform encephalopathies, primarily damage the brain. Prion diseases include mad cow disease or bovine spongiform encephalopathy in cattle; scrapie in sheep; sporadic Creutzfeldt-Jakob disease (CJD), variant CJD and GSS in humans; and chronic wasting disease in deer, elk and moose.. The role of a specific cell anchor for prion protein is at the crux of the NIAID study. Normal prion protein uses a specific molecule, glycophosphoinositol (GPI), to fasten to host cells in the brain and other organs. In ...
The bovine spongiform encephalopathy (BSE) agent has been transmitted to humans, leading to variant Creutzfeldt-Jakob disease. Sheep and goats can be experimentally infected by BSE and have been potentially exposed to natural BSE; however, whether BSE can be transmitted to small ruminants is not known. Based on the particular biochemical properties of the abnormal prion protein (PrPsc) associated with BSE, and particularly the increased degradation induced by proteinase K in the N terminal part of PrPsc, we have developed a rapid ELISA designed to distinguish BSE from other scrapie strains. This assay clearly discriminates experimental ovine BSE from other scrapie strains and was used to screen 260 transmissible spongiform encephalopathy (TSE)-infected small ruminant samples identified by the French active surveillance network (2002/2003). In this context, this test has helped to identify the first case of natural BSE in a goat and can be used to classify TSE isolates based on the proteinase K
Human prion diseases are fatal neurodegenerative disorders that include Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker disease, fatal familial insomnia, kuru and variant CJD (vCJD; Collinge 2001, 2005; Wadsworth & Collinge 2007). Their central feature is the post-translational conversion of host-encoded, cellular prion protein (PrPC) to an abnormal isoform, designated PrPSc (Prusiner 1982; Collinge 2001). Substantial evidence indicates that an abnormal PrP isoform is the principal, if not the sole, component of the transmissible infectious agent, or prion (Prusiner 1982; Collinge 2001; Weissmann 2004; Collinge & Clarke 2007). Human prion diseases are biologically unique in that the disease process can be triggered through inherited germ line mutations in the human prion protein gene (PRNP), infection (by inoculation, or in some cases by dietary exposure) with prion-infected tissue or by rare sporadic events that generate PrPSc (Collinge 2001, 2005; Wadsworth et al. 2003; ...
The agent that causes bovine spongiform encephalopathy (BSE) may be infecting small ruminants, which could have serious implications for human health. To distinguish BSE from scrapie and to examine the molecular characteristics of the protease-resistant prion protein (PrP(res)), we used a specifically designed Western blot method to test isolates from 648 sheep and 53 goats. During 2002-2009, classical non-Nor98 transmissible spongiform encephalopathy had been confirmed among ≈1.7 million small ruminants in France. Five sheep and 2 goats that showed a PrP(res) pattern consistent with BSE, or with the CH1641 experimental scrapie source, were identified. Later, bioassays confirmed infection by the BSE agent in 1 of the 2 goats. Western blot testing of the 6 other isolates showed an additional C-terminally cleaved PrP(res) product, with an unglycosylated band at ≈14 kDa, similar to that found in the CH1641 experimental scrapie isolate and different from the BSE isolate ...
Spiroplasma, small motile wall-less bacteria, are linked by molecular and serological studies to the transmissible spongiform encephalopathies (TSEs), which include scrapie in sheep, chronic wasting disease (CWD) in deer and Creutzfeldt-Jakob disease in humans. In this study, two experiments were undertaken to determine the role of spiroplasma in the pathogenesis of TSE. In experiment 1, Spiroplasma mirum, a rabbit tick isolate that had previously been shown to experimentally induce spongiform encephalopathy in rodents, was inoculated intracranially (IC) into ruminants. S. mirum-inoculated deer manifested clinical signs of TSE after 1.5 to 5.5 months incubation. The deer, as well as sheep and goats, inoculated with S. mirum developed spongiform encephalopathy in a dose-dependent manner. In experiment 2, spiroplasma closely related to S. mirum were isolated from TSE-affected brains via passage in embryonated eggs, and propagated in cell-free M1D media. Spiroplasma spp. isolates from scrapie-affected
Background. Transmissible spongiform encephalopathies (TSEs) are a group of fatal neurodegenerative diseases caused by novel infectious agents referred to as prions. Prions appear to be composed primarily, if not exclusively, of a misfolded isoform of the cellular prion protein. TSE infectivity is remarkably stable and can resist many aggressive decontamination procedures, increasing human, livestock and wildlife exposure to TSEs. Findings. We tested the hypothesis that UV-ozone treatment reduces levels of the pathogenic prion protein and inactivates the infectious agent. We found that UV-ozone treatment decreased the carbon and prion protein content in infected brain homogenate to levels undetectable by dry-ashing carbon analysis or immunoblotting, respectively. After 8 weeks of ashing, UV-ozone treatment reduced the infectious titer of treated material by a factor of at least 105. A small amount of infectivity, however, persisted despite UV-ozone treatment. When bound to either montmorillonite clay or
The occurrence of multiple strains of prions may reflect conformational variability of PrPSc, a disease-associated, aggregated variant of the cellular prion protein, PrPC. Here we used luminescent conjugated polymers (LCPs), which emit conformation-dependent fluorescence spectra, for characterizing prion strains. LCP reactivity and emission spectra of brain sections discriminated among four immunohistochemically indistinguishable, serially mouse-passaged prion strains derived from sheep scrapie, chronic wasting disease (CWD), bovine spongiform encephalopathy (BSE), and mouse-adapted Rocky Mountain Laboratory scrapie prions. Furthermore, using LCPs we differentiated between field isolates of BSE and bovine amyloidotic spongiform encephalopathy, and identified noncongophilic deposits in prion-infected deer and sheep. We found that fibrils with distinct morphologies generated from chemically identical recombinant PrP yielded unique LCP spectra, suggesting that spectral characteristic differences ...

Search of: prion disease OR Creutzfeldt-Jakob disease OR Gerstmann-Straussler-Scheinker syndrome OR fatal familial...Search of: 'prion disease' OR 'Creutzfeldt-Jakob disease' OR 'Gerstmann-Straussler-Scheinker syndrome' OR 'fatal familial...

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 ...
more infohttps://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

CJD (Creutzfeldt-Jakob Disease) Quinacrine Study - Full Text View - ClinicalTrials.govCJD (Creutzfeldt-Jakob Disease) Quinacrine Study - Full Text View - ClinicalTrials.gov

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. ...
more infohttps://clinicaltrials.gov/show/NCT00183092

Creutzfeldt-Jakob Disease | CJD | MedlinePlusCreutzfeldt-Jakob Disease | CJD | MedlinePlus

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 ... Creutzfeldt-Jakob Disease (National Institute of Neurological Disorders and Stroke) Also in Spanish ...
more infohttps://medlineplus.gov/creutzfeldtjakobdisease.html

ATYPICAL CREUTZFELDT JAKOB DISEASEs AND ATYPICAL BSEs - sporadic, spontaneous,  or sourced ?ATYPICAL CREUTZFELDT JAKOB DISEASE's AND ATYPICAL BSE's - sporadic, spontaneous, or sourced ?

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 ...
more infohttp://www.vegsource.com/talk/madcow/messages/1001487.html

Detection of Prions in the Plasma of Presymptomatic and Symptomatic Patients With Variant Creutzfeldt-Jakob Disease - PubMedDetection of Prions in the Plasma of Presymptomatic and Symptomatic Patients With Variant Creutzfeldt-Jakob Disease - PubMed

Variant Creutzfeldt-Jakob disease (vCJD) is a human prion disease resulting from the consumption of meat products contaminated ... Creutzfeldt-Jakob Syndrome / blood *. Actions. * Search in PubMed * Search in MeSH * Add to Search ... Variant Creutzfeldt-Jakob disease (vCJD) is a human prion disease resulting from the consumption of meat products contaminated ... Risks of transmission of variant Creutzfeldt-Jakob disease by blood transfusion. Peden AH, Ritchie DL, Ironside JW. Peden AH, ...
more infohttps://pubmed.ncbi.nlm.nih.gov/28003547/

Neurology Podcast Search | American Academy of Neurology®Neurology Podcast Search | American Academy of Neurology®

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

Carolyn L. Taylor, M.D. | Seattle, WACarolyn L. Taylor, M.D. | Seattle, WA

Creutzfeldt Jakob Syndrome. *Degenerative Brain Disorder. *Degenerative Disorders Of The Balance Organs ...
more infohttps://www.swedish.org/swedish-physicians/profile.aspx?name=carolyn+l+taylor&id=178887

Jennifer L. Witt, MD | Seattle,WAJennifer L. Witt, MD | Seattle,WA

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

Magnetic resonance imaging of Creutzfeldt-Jacob disease.Magnetic resonance imaging of Creutzfeldt-Jacob disease.

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

Zhongzeng Li, MD, PhD | Olympia,WAZhongzeng Li, MD, PhD | Olympia,WA

creutzfeldt jakob syndrome. *degenerative brain disorder. *degenerative disorders of the balance organs ...
more infohttp://www.providence.org/doctors/profile.aspx?region=wa&reset=true&name=li+zhongzeng&id=160038

Browsing Publications by SubjectBrowsing Publications by Subject

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

Dr. Alireza Atri MD Reviews | San Francisco, CA | Vitals.comDr. Alireza Atri MD Reviews | San Francisco, CA | Vitals.com

Creutzfeldt-Jakob Syndrome (CJD) * Parkinson Disease * Aneurysm * Migraine Disorders * Memory Disorders * Stroke ...
more infohttps://www.vitals.com/doctors/Dr_Alireza_Atri.html

Creutzfeldt-Jakob diseaseCreutzfeldt-Jakob disease

... and Fatal Familial Insomnia; Fragile X-associated Tremor/Ataxia Syndrome; Krabbes Disease; Niemann- ... "Creutzfeldt-Jakob disease" (open studies are recruiting volunteers) and 6 "Creutzfeldt-Jakob disease" studies with "all" status ... Creutzfeldt-Jakob disease (CJD) is a type of rapidly progressive brain disorder known as prion disease. Prion disease is very ... Sporadic Creutzfeldt-Jakob disease (sCJD) mainly occurs in the elderly, with the peak age of onset ranging from 55 to 75 years ...
more infohttp://www.diseaseinfosearch.org/Creutzfeldt-Jakob+Disease/2006

Advanced Search Results - Public Health Image Library(PHIL)Advanced Search Results - Public Health Image Library(PHIL)

Categories: Creutzfeldt-Jakob Syndrome Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
more infohttps://phil.cdc.gov/AdvancedSearchResults.aspx?Search=Creutzfeldt-Jakob+Syndrome&parentid=7818&catid=14529

Advanced Search Results - Public Health Image Library(PHIL)Advanced Search Results - Public Health Image Library(PHIL)

Categories: Creutzfeldt-Jakob Syndrome Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
more infohttps://phil.cdc.gov/AdvancedSearchResults.aspx?Search=Creutzfeldt-Jakob+Syndrome&parentid=31283&catid=14530

PRNT polyclonal antibody - (PAB28297) - Products - AbnovaPRNT polyclonal antibody - (PAB28297) - Products - Abnova

Creutzfeldt-Jakob Syndrome. *Related Product. *. *. *. *. *Terms & Conditions , Privacy Policy , Copyright and Trademark , ...
more infohttp://www.abnova.com/products/products_detail.asp?catalog_id=PAB28297

The Tale of the Dueling Neurosurgeons - WikipediaThe Tale of the Dueling Neurosurgeons - Wikipedia

Another illness that falls into the category of prions is Creutzfeldt-Jakob syndrome, a degenerative neurological disorder. ... Korsakoffs Syndrome leads to people lying compulsively, especially brain-damaged alcoholics. Back to before, the brain needs ... There are ones such as Cotards 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 persons body feels much out of proportion and delusional bicephaly. ...
more infohttps://en.wikipedia.org/wiki/The_Tale_of_the_Dueling_Neurosurgeons

UBER DIE MORPHOLOGISCHEN VERANDERUNGEN DES KLEINHIRNS BEI DER JAKOB CREUTZFELDTSCHEN KRANKHEIT<...UBER DIE MORPHOLOGISCHEN VERANDERUNGEN DES KLEINHIRNS BEI DER JAKOB CREUTZFELDTSCHEN KRANKHEIT<...

All the cases belonged to the sporadic form of Jakob Creutzfeldt disease. The morphologic picture of the changes in the ... All the cases belonged to the sporadic form of Jakob Creutzfeldt disease. The morphologic picture of the changes in the ... All the cases belonged to the sporadic form of Jakob Creutzfeldt disease. The morphologic picture of the changes in the ... All the cases belonged to the sporadic form of Jakob Creutzfeldt disease. The morphologic picture of the changes in the ...
more infohttps://hungary.pure.elsevier.com/en/publications/the-morphological-changes-of-the-cerebellum-in-jakob-creutzfeldt-

Prion strain characterization of a novel subtype of Creutzfeldt-Jakob disease<...Prion strain characterization of a novel subtype of Creutzfeldt-Jakob disease<...

Prion strain characterization of a novel subtype of Creutzfeldt-Jakob disease. Roberta Galeno, Michele Angelo Di Bari, Romolo ... Prion strain characterization of a novel subtype of Creutzfeldt-Jakob disease. / Galeno, Roberta; Di Bari, Michele Angelo; ... Prion strain characterization of a novel subtype of Creutzfeldt-Jakob disease. In: Journal of Virology. 2017 ; Vol. 91, No. 11. ... keywords = "Creutzfeldt-Jakob disease, Humanized mice, Prion strain, Prions",. author = "Roberta Galeno and {Di Bari}, {Michele ...
more infohttps://moh-it.pure.elsevier.com/en/publications/prion-strain-characterization-of-a-novel-subtype-of-creutzfeldt-j

US20120081666A1 - Method and apparatus for corrective secondary saccades analysis with video oculography system 
        -...US20120081666A1 - Method and apparatus for corrective secondary saccades analysis with video oculography system -...

208000003407 Creutzfeldt-Jakob Syndrome Diseases 0 description 1 * 201000010450 Creutzfeldt-Jakob diseases Diseases 0 ... such as Creutzfeldt-Jakob disease. In fact, PSP is most often misdiagnosed as Parkinsons disease early in the course of the ...
more infohttps://patents.google.com/patent/US20120081666A1/en

Retinoic Acid Receptor Beta (RARβ; NR1B2) - Nuclear Receptor ResourceRetinoic Acid Receptor Beta (RARβ; NR1B2) - Nuclear Receptor Resource

Creutzfeldt-Jakob Syndrome *Diabetes Complications *Alcoholism *Alzheimer Disease *Attention Deficit Disorder with ...
more infohttps://nrresource.org/nuclear_receptors/retinoic-acid-receptor-beta-rarb-nr1b2/

Increased α-synuclein levels in the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease<...Increased α-synuclein levels in the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease<...

Increased α-synuclein levels in the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease. Journal of Neurology. 2014 ... Increased α-synuclein levels in the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease. / Kasai, Takashi; Tokuda, ... keywords = "Biomarker, Cerebrospinal fluid, Creutzfeldt-Jakob disease, ELISA, Tau, α-Synuclein",. author = "Takashi Kasai and ... title = "Increased α-synuclein levels in the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease", ...
more infohttps://qfrd.pure.elsevier.com/en/publications/increased-%CE%B1-synuclein-levels-in-the-cerebrospinal-fluid-of-patien
  • Some drugs, originally developed to treat other disorders, were shown to be effective in treating symptoms of fragile X syndrome in the animal models but when used on human subjects appeared to be less effective. (cringle.me)
  • A 70-year-old man developed a syndrome of progressive nondominant parietal and occipital dysfunction including palinopsia and a visual field defect. (elsevier.com)
  • Fragile X tremor-ataxia syndrome FXTAS is characterized by a progressive adult-onset movement abnormalities ataxia and rhythmic, involuntary movements tremors that affect mostly men. (cringle.me)
  • The greater the number of copies of CGG in a fraajil, the more likely these will increase to become a full mutation causing the fragile X syndrome in offspring. (cringle.me)