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))
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.
Myelodysplastic Syndromes
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
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
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
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
Reye Syndrome
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
HELLP Syndrome
Bloom Syndrome
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
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
Severe Acute Respiratory Syndrome
Restless Legs Syndrome
Job Syndrome
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
Paraneoplastic Syndromes
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
Sturge-Weber Syndrome
A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.
Budd-Chiari Syndrome
Phenotype
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
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
Felty Syndrome
Risk Factors
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
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
Bardet-Biedl Syndrome
Peutz-Jeghers Syndrome
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
Wiskott-Aldrich Syndrome Protein
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
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.
Zollinger-Ellison Syndrome
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
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
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)
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
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.
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
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
Pregnancy
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.
White spot syndrome virus 1
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
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
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.
Adie Syndrome
A syndrome characterized by a TONIC PUPIL that occurs in combination with decreased lower extremity reflexes. The affected pupil will respond more briskly to accommodation than to light (light-near dissociation) and is supersensitive to dilute pilocarpine eye drops, which induce pupillary constriction. Pathologic features include degeneration of the ciliary ganglion and postganglionic parasympathetic fibers that innervate the pupillary constrictor muscle. (From Adams et al., Principles of Neurology, 6th ed, p279)
Follow-Up Studies
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
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.
Prevalence
Premenstrual Syndrome
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
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
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
Disease Models, Animal
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
Wasting Syndrome
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
Chromosomes, Human, Pair 22
Munchausen Syndrome
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)
Poland Syndrome
Magnetic Resonance Imaging
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)
Autoantibodies in sporadic Creutzfeldt-Jakob disease. - Oxford Neuroscience
Tissue classification for the epidemiological assessment of surgical transmission of sporadic Creutzfeldt-Jakob disease. A...
MRI lesion profiles in sporadic Creutzfeldt-Jakob disease - Zurich Open Repository and Archive
IJMS | Free Full-Text | Cerebrospinal Fluid Markers in Sporadic Creutzfeldt-Jakob Disease
CREUTZFELDT JAKOB DISEASE: August 2015
Surgery and risk of sporadic Creutzfeldt-Jakob disease in Denmark and Sweden: registry-based case-control studies
Protein 14-3-3 Detection in Cerebrospinal Fluid - Clinico-Pathological Correlation | Česká a slovenská neurologie a...
Alzheimer-type neuropathology in a 28 year old patient with iatrogenic Creutzfeldt-Jakob disease after dural grafting | Journal...
sporadic Creutzfeldt-Jakob Disease update As at 5th November 2012 UK, USA, AND CANADA
Detection of Prions in the Plasma of Presymptomatic and Symptomatic Patients With Variant Creutzfeldt-Jakob Disease - PubMed
Department of Health | Creutzfeldt-Jakob disease surveillance in Australia, update to December 2013
CREUTZFELDT JAKOB DISEASE: Psychiatric Symptoms in Patients With Sporadic Creutzfeldt-Jakob Disease in Germany
Figure - Iatrogenic Creutzfeldt-Jakob Disease from Commercial Cadaveric Human Growth Hormone - Volume 19, Number 4-April 2013 -...
Creutzfeldt-Jakob disease | Alzheimer Society of Cornwall & District
A case-control study of sporadic Creutzfeldt-Jakob disease in Switzerland: analysis of potential risk factors with regard to an...
Creutzfeldt-Jakob Disease Susceptibility: An Approach to Discovering Multiple Candidate Genes for Human Prion Diseases
BSE fears continue in UK
Resources | Creutzfeldt-Jakob Disease, Classic (CJD) | Prion Disease | CDC
Plus it
Creutzfeldt-Jakob Disease. CJD; human mad cow disease. Patient | Patient
vCJD Cases Reported in the US | Variant Creutzfeldt-Jakob Disease, Classic (CJD) | Prion Disease | CDC
Infectivity in bone marrow from sporadic CJD patients
Researchers find infectious prions in Creutzfeldt-Jakob disease patient skin
Creutzfeldt-Jakob Disease: Research suggests the eye may be a source for early diagnosis - Outbreak News Today
Is there evidence of vertical transmission of variant Creutzfeldt-Jakob disease? | Journal of Neurology, Neurosurgery &...
Researchers identify new biomarker for Creutzfeldt-Jakob disease, the human form of mad cow disease
Prion strain characterization of a novel subtype of Creutzfeldt-Jakob disease<...
Creutzfeldt Jakob Disease - Mighty Guide
Cell-based model means a step forward for Creutzfeldt-Jakob disease research | NC3Rs
Cell-based model means a step forward for Creutzfeldt-Jakob disease research | NC3Rs
What is Creutzfeldt-Jakob Disease?
Genetic Risk Factors for Variant Creutzfeldt-Jakob Disease: A Genome-Wide Association Study
WHO Recommended Surveillance Standards (WHO - OMS, 1999, 157 p.): Diseases: A81.0 Creutzfeldt-Jakob disease
Creutzfeldt-Jakob Disease (CJD) Causes and Symptoms
The prion protein protease sensitivity, stability and seeding activity in variably protease sensitive prionopathy brain tissue...
Bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease | The BMJ
Creutzfeldt-Jakob disease | definition of Creutzfeldt-Jakob disease by Medical dictionary
Variant Creutzfeldt-Jakob Disease (vCJD): Clinical Presentation and Relationship to Bovine Spongiform Encephalopathy (BSE) -...
Variant CJD | definition of Variant CJD by Medical dictionary
CJD (Creutzfeldt-Jakob Disease) Quinacrine Study - Full Text View - ClinicalTrials.gov
Bovine Spongiform Encephalopathy BSE: January 2009
KEGG PATHWAY: hsa05020
ASMscience | Bovine Spongiform Enceph
Creutzfeldt-Jakob Disease | CJD | MedlinePlus
Mother With Amyotrophic Lateral Sclerosis and Daughter With Creutzfeldt-Jakob Disease | Amyotrophic Lateral Sclerosis | JAMA...
Biology-Online •
Early Diagnosis of Human Prion Disease | Global Research Projects
NOR-98 ATYPICAL SCRAPIE USA UPDATE AS AT OCT 2007: CHARACTERISATION OF SLOVENIAN OVINE ATYPICAL SCRAPIE CASES
Bone Meal Fertilizer and vCJD?
Wheres the Beef Come From? - SFGate
First participant diagnosed with Creutzfeldt-Jakob disease in the population-based Rotterdam Study was classified with mild...
Why Mad Cow in Calif. Should Not Scare You | HealthMap
Prion News, Research - Page 10
Bovine Spongiform Encephalopathy
Amandas Story | Creutzfeldt-Jakob Disease Foundation
Welcome to CDC stacks | Case 1: Lactic Acidosis and Respiratory Distress in a 10-Day-Old Infant - 32698 | CDC Public Access
MADCOW USDA the untold story: INTERPRETING RESULTS OF FSIS VERIFICATION SAMPLING OF DOMESTIC BEEF PRODUCT DERIVED FROM ADVANCED...
Figure 2 - Asynchronous Onset of Clinical Disease in BSE-Infected Macaques - Volume 19, Number 7-July 2013 - Emerging...
Prion diseases - King County
2011 ICD-9-CM Diagnosis Code 046.19 : Other and unspecified creutzfeldt-jakob disease
Creutzfeldt-Jakob disease - The Neurology Lounge
Mammalian prion biology: one century of evolving concepts. - Zurich Open Repository and Archive
ORBi: Browsing ORBi
Viral diseases and host defenses
MADCOW USDA the untold story: June 2014
Professor Mick Tuite - School of Biosciences - University of Kent
Prion-Related Diseases Follow-up: Further Outpatient Care, Further Inpatient Care, Deterrence/Prevention
Blank adalah...
Integra LifeSciences Holdings Corp. - Quarterly Report
neuroscience - Difference between brain disease and brain disorder - Psychology & Neuroscience Stack Exchange
Protein Marker Distinguishes Prion Disease from Rapid Alzheimers | ALZFORUM
Whitehead Institute - News Archive - 13
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:// ...
Posterior cortical atrophy
PCA may also be correlated with Lewy body disease, Creutzfeldt-Jakob disease, Bálint's syndrome, and Gerstmann syndrome. In ... In rare cases, PCA can be caused by dementia with Lewy bodies and Creutzfeldt-Jakob disease. The main symptom resulting from ... Posterior cortical atrophy (PCA), also called Benson's syndrome, is a rare form of dementia which is considered a visual ... Bernard; Alexis Brice (September 2004). "Benson's syndrome or Posterior Cortical Atrophy" (PDF). Orphanet Encyclopedia. ...
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. ...
Chromosome 20
PRNP: prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) ...
Alzheimer 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 Alzheimer ...
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 ...
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 MeSH codes (C10)
... creutzfeldt-jakob syndrome MeSH C10.228.140.380.230 - dementia, vascular MeSH C10.228.140.380.230.250 - dementia, multi-infarct ... creutzfeldt-jakob syndrome MeSH C10.228.228.800.260 - encephalopathy, bovine spongiform MeSH C10.228.228.800.350 - gerstmann- ... cri-du-chat syndrome MeSH C10.597.606.643.210 - de lange syndrome MeSH C10.597.606.643.220 - down syndrome MeSH C10.597.606.643 ... melas syndrome MeSH C10.228.140.163.100.540 - menkes kinky hair syndrome MeSH C10.228.140.163.100.545 - merrf syndrome MeSH ...
List of infections of the central nervous system
Creutzfeldt-Jakob disease and its variant Fatal familial insomnia Gerstmann-Sträussler-Scheinker syndrome Kuru Variably ... Subacute sclerosing panencephalitis Progressive multifocal leukoencephalopathy Acquired immunodeficiency syndrome (AIDS) ... Familial spongiform encephalopathy PANDAS Sydenham's chorea Acute disseminated encephalomyelitis Guillain-Barré syndrome ...
List of MeSH codes (F03)
... creutzfeldt-jakob syndrome MeSH F03.087.400.350 - dementia, vascular MeSH F03.087.400.350.400 - dementia, multi-infarct MeSH ... asperger syndrome MeSH F03.550.325.125 - autistic disorder MeSH F03.550.325.412 - rett syndrome MeSH F03.550.325.700 - ... restless legs syndrome MeSH F03.870.664.635 - sleep arousal disorders MeSH F03.870.664.635.600 - night terrors MeSH F03.870. ... jet lag syndrome MeSH F03.870.400.800 - sleep disorders, intrinsic MeSH F03.870.400.800.200 - disorders of excessive somnolence ...
PRNP
Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (FFI), Gerstmann-Sträussler-Scheinker syndrome (GSS), kuru, and ... Creutzfeldt-Jakob disease - glutamic acid-200 is replaced by lysine while valine is present at amino acid 129 Gerstmann- ... to compound risk for both Alzheimer's and sporadic Creutzfeldt-Jakob disease. A point mutation on codon 102 of PRNP at least in ... variant Creutzfeldt-Jakob disease (vCJD). Similarities exist between kuru, thought to be due to human ingestion of diseased ...
Michael Geschwind
... including Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker syndrome), Alzheimer disease, and limbic and autoimmune ... "Challenging the Clinical Utility of the 14-3-3 Protein for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease". Archives of ... "Diffusion-Weighted and Fluid-Attenuated Inversion Recovery Imaging in Creutzfeldt-Jakob Disease: High Sensitivity and ... He has served as the principal investigator on studies on human prion disease and Creutzfeldt-Jacob disease. He was guest ...
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 ...
Ilya Scheinker
... a variant of Creutzfeldt-Jakob disease. They studied at the University of Jena, and the University of Vienna, graduating in ... The persecution of the men behind the syndrome". Neurology. 83 (3): 272-277. doi:10.1212/WNL.0000000000000606. ISSN 0028-3878. ... who in 1936 collaborated with Josef Gerstmann and Ernst Sträussler to describe Gerstmann-Sträussler-Scheinker syndrome, ...
List of neurological conditions and disorders
... arteritis Craniosynostosis Creutzfeldt-Jakob disease Cumulative trauma disorders Cushing's syndrome Cyclic vomiting syndrome ... 15 Joubert syndrome Karak syndrome Kearns-Sayre syndrome Kinsbourne syndrome Kleine-Levin syndrome Klippel Feil syndrome Krabbe ... Shaken baby syndrome Shingles Shy-Drager syndrome Sjögren's syndrome Sleep apnea Sleeping sickness Snatiation Sotos syndrome ... Febrile seizures Fisher syndrome Fibromyalgia Foville's syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome ...
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 ...
Alain-Jacques Valleron
Creutzfeldt-Jakob disease, SARS (Severe Acute Respiratory Syndrome)... Alain-Jacques Valleron has always placed his research at ...
New Brunswick neurological syndrome of unknown cause
Symptoms of the suspected disease are similar to those of Creutzfeldt-Jakob disease (CJD) and other prion diseases, but no ... Reports of the syndrome was leaked to the public in March 2021, after which the existence of the syndrome was made public by ... Coulthart, M. B.; Cashman, N. R. (2001). "Variant Creutzfeldt-Jakob disease: A summary of current scientific knowledge in ... when it delegated Ottawa-based Creutzfeldt-Jakob disease Surveillance System director Michael Coulthart to investigate the ...
Gerstmann-Sträussler-Scheinker syndrome
Myoclonus (spasmodic muscle contraction) is less frequently seen than in Creutzfeldt-Jakob disease. Many patients also exhibit ... pure dementia GSS and Creutzfeldt-Jakob disease-like GSS. GSS is part of a group of diseases called transmissible spongiform ... Gerstmann-Sträussler-Scheinker syndrome (GSS) is an extremely rare, usually familial, fatal neurodegenerative disease that ... Collins S, McLean CA, Masters CL (September 2001). "Gerstmann-Sträussler-Scheinker syndrome,fatal familial insomnia, and kuru: ...
Prion
The human prion disease variant Creutzfeldt-Jakob disease, however, is thought to be caused by a prion that typically infects ... Gerstmann-Sträussler-Scheinker syndrome (GSS), fatal familial insomnia (FFI), and kuru. There is also evidence suggesting ... Sutton JM, Dickinson J, Walker JT, Raven ND (September 2006). "Methods to minimize the risks of Creutzfeldt-Jakob disease ... In humans, prions are believed to be the cause of Creutzfeldt-Jakob disease (CJD), its variant (vCJD), ...
Apathy
CADASIL syndrome, depression, Alzheimer's disease, Chagas disease, Creutzfeldt-Jakob disease, dementia (and dementias such as ... Marin argues that apathy is a syndrome associated with many different brain disorders. This has now been shown to be the case ... It is also known to be a distinct psychiatric syndrome[citation needed] that is associated with many conditions, some of which ... several studies have shown that the two syndromes are dissociable: apathy can occur independently of depression and vice versa ...
Alien hand syndrome
Corticobasal degeneration and Creutzfeldt-Jakob disease.[citation needed] Other areas of the brain that are associated with ... Alien hand syndrome (AHS) or Dr. Strangelove syndrome is a category of conditions in which a person experiences their limbs ... Apraxia and Related Syndromes at eMedicine Kischka, U; Ettlin, TM; Lichtenstern, L; Riedo, C (1996). "Alien hand syndrome of ... "How Alien Hand Syndrome Works". HowStuffWorks. Retrieved October 6, 2011. "Definition of Alien Hand Syndrome". MedicalNet.com. ...
Ganser syndrome
Creutzfeldt-Jakob disease. *Huntington's disease. *Parkinson's disease. *AIDS dementia complex. *Frontotemporal dementia ... The syndrome has also been called nonsense syndrome, balderdash syndrome, syndrome of approximate answers, hysterical ... a b c d e f g h i Weiner, H.; Brainman, A. (1955). The Ganser Syndrome: A Review and Addition of Some Unusual Cases. American ... a b c d e f g h i Bromberg, W. (1986). The neglect of Ganser Syndrome. The American Journal of Psychiatry, 143(7), 937-938. ...
Asperger syndrome
Creutzfeldt-Jakob disease. *Frontotemporal dementia. *Huntington's disease. *Mild cognitive impairment. *Parkinson's disease ... "Asperger's syndrome". Oxford Dictionaries. Retrieved 16 May 2018.. *^ a b c d e f g h i "Autism Spectrum Disorder". National ... Asperger syndrome. Other names. Asperger's syndrome, Asperger disorder (AD), Asperger's, schizoid disorder of childhood,[1] ... Main article: History of Asperger syndrome. Named after the Austrian pediatrician Hans Asperger (1906-1980), Asperger syndrome ...
Corticobasal syndrome
Alzheimer's disease Pick's disease with Pick bodies Lewy body dementias Neurofilament inclusion body disease Creutzfeldt-Jakob ... Corticobasal syndrome (CBS) is a rare, progressive atypical Parkinsonism syndrome and is a tauopathy related to frontotemporal ... May 2019). "Corticobasal syndrome: neuroimaging and neurophysiological advances". Eur. J. Neurol. 26 (5): 701-e52. doi:10.1111/ ... The other three phenotypes of CBD are: frontal-behavioral dysexecutive-spatial syndrome (FBS) nonfluent/agrammatic variant of ...
Diagnosis of Asperger syndrome
Creutzfeldt-Jakob disease. *Frontotemporal dementia. *Huntington's disease. *Mild cognitive impairment. *Parkinson's disease ... Cornelia De Lange syndrome, fetal alcohol syndrome, fragile X syndrome, dyslexia, Fahr syndrome, hyperlexia, leukodystrophy, ... "Asperger Syndrome Fact Sheet". ninds.nih.gov.. *^ Attwood, T (2003). Is There a Difference Between Asperger's Syndrome and High ... criteria to diagnose Asperger syndrome. Several factors complicate the diagnosis of Asperger syndrome (AS), an autism spectrum ...
Organic brain syndrome
Creutzfeldt-Jakob disease Diffuse Lewy Body disease Huntington's disease Multiple sclerosis Normal pressure hydrocephalus ... Organic brain syndrome, also known as organic brain disease, organic brain disorder, organic mental syndrome, or organic mental ... "Organic brain syndrome". MedlinePlus. Khan A, Joyce P, Jones AV (August 1980). "Benzodiazepine withdrawal syndromes". N. Z. Med ... www.healthline.com/health/organic-brain-syndrome#causes "MedlinePlus Medical Encyclopedia: Organic brain syndrome". Retrieved ...
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 ...
Psychogenic non-epileptic seizure
Savant syndrome. Dementia. *AIDS dementia complex. *Alzheimer's disease. *Creutzfeldt-Jakob disease. *Frontotemporal dementia ...
Lyme disease
... abnormalities seen in the SPECT images are very similar to those seen in people with cerebral vacuities and Creutzfeldt-Jakob ... Garin-Bujadoux syndrome, Bannwarth syndrome, Afzelius's disease,[255] Montauk Knee or sheep tick fever. Since 1976 the disease ... "Post-Treatment Lyme Disease Syndrome".. Further reading[edit]. *. Richard Ostfeld (2012). Lyme Disease: The Ecology of a ... The full syndrome now known as Lyme disease was not recognized until a cluster of cases originally thought to be juvenile ...
ICD-10 Chapter V: Mental and behavioural disorders
F02.1) Dementia in Creutzfeldt-Jakob disease. *(F02.2) Dementia in Huntington's disease. *(F02.3) Dementia in Parkinson's ... Alcohol dependence syndrome Alcohol withdrawal syndrome Delirium tremens Alcoholic hallucinosis Korsakoff's syndrome ... F50-F59) Behavioural syndromes associated with physiological disturbances and physical factors[edit]. *(F50) Eating disorders * ... F07.2) Postconcussional syndrome. *(F07.8) Other organic personality and behavioural disorders due to brain disease, damage and ...
Sexual anhedonia
A spinal cord injury or chronic fatigue syndrome might also occasionally cause this disorder.[2] Age may also be a cause of ... Creutzfeldt-Jakob disease. *Huntington's disease. *Parkinson's disease. *AIDS dementia complex. *Frontotemporal dementia ... A New Megavitamin Syndrome - NEJM". New England Journal of Medicine. 309 (8): 445-448. doi:10.1056/nejm198308253090801.. ...
Proteasome
Creutzfeldt-Jakob disease,[128] and motor neuron diseases, polyglutamine (PolyQ) diseases, muscular dystrophies[129] and ... Sjogren's syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating proteasomes which can be applied as clinical ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ... Jakob C, Egerer K, Liebisch P, Türkmen S, Zavrski I, Kuckelkorn U, Heider U, Kaiser M, Fleissner C, Sterz J, Kleeberg L, Feist ...
Dysthymia
Savant syndrome. Dementia. *AIDS dementia complex. *Alzheimer's disease. *Creutzfeldt-Jakob disease. *Frontotemporal dementia ...
PRNP
Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (FFI), Gerstmann-Sträussler-Scheinker syndrome (GSS), kuru, and ... Creutzfeldt-Jakob disease - glutamic acid-200 is replaced by lysine while valine is present at amino acid 129 ... to compound risk for both Alzheimer's and sporadic Creutzfeldt-Jakob disease.[54] A point mutation on codon 102 of PRNP at ... variant Creutzfeldt-Jakob disease (vCJD). Similarities exist between kuru, thought to be due to human ingestion of diseased ...
List of phobias
Savant syndrome. Dementia. *AIDS dementia complex. *Alzheimer's disease. *Creutzfeldt-Jakob disease. *Frontotemporal dementia ...
Posttraumatic stress disorder
Savant syndrome. Dementia. *AIDS dementia complex. *Alzheimer's disease. *Creutzfeldt-Jakob disease. *Frontotemporal dementia ... Herman JL (July 1992). "Complex PTSD: A syndrome in survivors of prolonged and repeated trauma". Journal of Traumatic Stress. 5 ... See also: Rape trauma syndrome. An individual that has been exposed to domestic violence is predisposed to the development of ... Some at the Pentagon have used the terminology "PTSS" (syndrome instead of disorder, to avoid connotation of stigma), or just " ...
Muscle
... and Parkinson's disease to Creutzfeldt-Jakob disease, can lead to problems with movement or motor coordination. ... Examples include cancer and AIDS, which induce a body wasting syndrome called cachexia. Other syndromes or conditions that can ...
आइसीडी-१० अध्याय ब - विकिपीडिया
A81.0) Creutzfeldt-Jakob disease. *(A81.1) Subacute sclerosing panencephalitis. *(A81.2) Progressive multifocal ... B22.2) HIV disease resulting in wasting syndrome. *(B22.7) HIV disease resulting in multiple diseases classified elsewhere ...
COVID-19 - Vikipedi
"Severe acute respiratory syndrome coronavirus 2 data hub". NCBI. 21 Mart 2020 tarihinde kaynağından arşivlendi. Erişim tarihi: ... "Outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2): increased transmission beyond China - fourth update" ... "COVID-19: consider cytokine storm syndromes and immunosuppression". The Lancet. doi:10.1016/S0140-6736(20)30628-0. PMID ... "Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), a newly emerged pathogen: an overview". Pathogens and Disease ...
Analgesic
Pain; fibromyalgia; Creutzfeldt-Jakob disease.. Drowsiness, dizziness, heartburn, dry mouth, fatigue and nausea.[117] ... GI bleeds; ulcers; Reye syndrome; nephrotoxicity; blood dyscrasias (rarely); Stevens-Johnson syndrome (uncommon/rare) ... As per aspirin, except without Reye syndrome and with the following additions: myocardial infarctions, strokes and hypertension ... Hepatotoxicity; hypersensitivity reactions (rare), including Stevens-Johnson syndrome; hypotension (rare; IV). Phenacetin. No ...
Parkinson's disease
Creutzfeldt-Jakob disease. *Huntington's disease. *Parkinson's disease. *AIDS dementia complex. *Frontotemporal dementia ... This is now discouraged since it can bring on dangerous side effects such as neuroleptic malignant syndrome.[74] Most people ... Other causes that can secondarily produce parkinsonism are stroke and drugs.[59] Parkinson plus syndromes such as progressive ... The dopamine dysregulation syndrome - with wanting of medication leading to overusage - is a rare complication of levodopa use ...
Generalized anxiety disorder
Overdose of an SSRI can result in serotonin syndrome.. Benzodiazepines[edit]. Benzodiazepines are most often prescribed to ... Creutzfeldt-Jakob disease. *Huntington's disease. *Parkinson's disease. *AIDS dementia complex. *Frontotemporal dementia ... Lee, S.; Wu, J.; Ma, Y. L.; Tsang, A.; Guo, W.-J.; Sung, J. (2009). "Irritable bowel syndrome is strongly associated with ... such as irritable bowel syndrome.[62] Patients with GAD can sometimes present with symptoms such as insomnia or headaches as ...
List of neurological conditions and disorders
Creutzfeldt-Jakob disease. *Cumulative trauma disorders. *Cushing's syndrome. *Cyclic vomiting syndrome. *Cyclothymic disorder ... and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various ...
Paruresis
Savant syndrome. Dementia. *AIDS dementia complex. *Alzheimer's disease. *Creutzfeldt-Jakob disease. *Frontotemporal dementia ... Paruresis, also known as shy bladder syndrome, is a type of phobia in which a person is unable to urinate in the real or ... "UKPT - United Kingdom Paruresis Trust - Shy Bladder Syndrome Support. Retrieved 5 August 2018.. ... Soifer, Steven (2001). "Evolving Legal Ramifications". Shy Bladder Syndrome. New Harbinger. p. 98. ISBN 978-1-57224-227-2. .. ...
Schizophreniform disorder
Savant syndrome. Dementia. *AIDS dementia complex. *Alzheimer's disease. *Creutzfeldt-Jakob disease. *Frontotemporal dementia ...
Daniel Carleton Gajdusek Bahasa Melayu, ensiklopedia bebas
Creutzfeldt-Jakob disease)". Science. 165 (3897): 1023-1025. Bibcode:1969Sci...165.1023G. doi:10.1126/science.165.3897.1023. ... Gajdusek; Carleton, Daniel; Gibbs, Clarence J.; Alpers, Mâ (1966). "Experimental transmission of a Kuru-like syndrome to ...
Fear of children
Savant syndrome. Dementia. *AIDS dementia complex. *Alzheimer's disease. *Creutzfeldt-Jakob disease. *Frontotemporal dementia ...
Growth hormone therapy
In 1985, four young adults in the U.S. having received NPA growth hormone in the 1960s developed CJD (Creutzfeldt-Jakob disease ... The gains appear to be dose-dependent.[12] It has been used successfully in toddlers with Turner syndrome,[13] as well as in ... In 1976, physicians became aware that Creutzfeldt-Jakob disease could be transmitted by neurosurgical procedures and cornea ... In 1985 it was associated with the development of Creutzfeldt-Jakob disease, and was withdrawn from use. ...
Ugonjwa wa Alzheimer, kamusi elezo huru
... ugonjwa wa Creutzfeldt-Jakob, hivyo basi kuunganisha mfumo wa msingi wa matatizo haya ya kuzorota kwa nyuro na yale ya ugonjwa ... Lott IT, Head E (Machi 2005). "Alzheimer disease and Down syndrome: factors in pathogenesis". Neurobiol Aging 26 (3): 383-89. ... and dementia syndromes". J Alzheimers Dis 17 (1): 7-31. doi:10.3233/JAD-2009-1009 (inactive 2010-08-25) . PMID 19494429 . ... Down Syndrome) ambao wana nakala ziada ya jeni karibu ulimwenguni kote hudhihirisha Alzeima wanapofikisha umri wa maika 40.[36] ...
Dissociative identity disorder
Olio, KA (2004). "The Truth About 'False Memory Syndrome'". In Cosgrove L; Caplan PJ. Bias in psychiatric diagnosis. Northvale ... Creutzfeldt-Jakob disease. *Huntington's disease. *Parkinson's disease. *AIDS dementia complex. *Frontotemporal dementia ... Merskey H (1995). "Multiple personality disorder and false memory syndrome". British Journal of Psychiatry. 166 (3): 281-283. ... The therapy-caused cases of DID, it is argued, are strongly linked to false memory syndrome, a concept and term coined by ...
Bipolar disorder
Creutzfeldt-Jakob disease. *Huntington's disease. *Parkinson's disease. *AIDS dementia complex. *Frontotemporal dementia ... Berk M, Dodd S, Kauer-Sant'anna M, Malhi GS, Bourin M, Kapczinski F, Norman T (2007). "Dopamine dysregulation syndrome: ... Cirillo PC, Passos RB, Bevilaqua MC, López JR, Nardi AE (December 2012). "Bipolar disorder and Premenstrual Syndrome or ... premenstrual syndrome (including premenstrual dysphoric disorder), or panic disorder.[21][30][39][40] A careful longitudinal ...
Blood donation
... such as travel to countries at risk for malaria or variant Creutzfeldt-Jakob disease (vCJD). These questions vary from country ... Research published in 2012 demonstrated that in patients with metabolic syndrome, repeated blood donation is effective in ...
Progressive inflammatory neuropathy
... and variant Creutzfeldt-Jakob disease (vCJD). These all have highly transmissible pathogenic agents that induce brain damage. ... Guillain-Barré syndrome (GBS) induces an acute autoimmune response which affects the Schwann cells in the peripheral nervous ...
Growth hormone
In 1985, unusual cases of Creutzfeldt-Jakob disease were found in individuals that had received cadaver-derived HGH ten to ... Examples of other causes of shortness often treated with GH are Turner syndrome, chronic renal failure, Prader-Willi syndrome, ... Binder G, Wittekindt N, Ranke MB (February 2007). Noonan Syndrome: Genetics and Responsiveness to Growth Hormone Therapy. Horm ... More rarely, patients can experience joint swelling, joint pain, carpal tunnel syndrome, and an increased risk of diabetes.[48] ...
Alzheimer's disease
Creutzfeldt-Jakob disease, thus potentially linking the underlying mechanism of these neurodegenerative disorders with that of ... Lott IT, Head E (March 2005). "Alzheimer disease and Down syndrome: factors in pathogenesis". Neurobiology of Aging. 26 (3): ... Down Syndrome) who have an extra gene copy almost universally exhibit at least the earliest symptoms of AD by 40 years of age.[ ... Education delays the onset of AD syndrome without changing the duration of the disease.[143] Learning a second language even ...
Browsing Publications by Subject "Creutzfeldt-Jakob Syndrome"
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 ...
Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers' syndrome? An analysis of a national surveillance...
Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers syndrome? An analysis of a national surveillance ... Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers syndrome? An analysis of a national surveillance ... Will RG, Zeidler M, Stewart GE, et al. Diagnosis of new variant Creutzfeldt-Jakob disease. Ann Neurol 2000;47:575-82. ... Verity CM, Nicoll A, Will RG, et al. Variant Creutzfeldt-Jakob disease in UK children: a national surveillance study. Lancet ...
Creutzfeldt-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 ...
CJD (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. ...
WHO HQ Library catalog ›
Results of search for 'su:{Creutzfeldt-Jakob syndrome}'
Iatrogenic Creutzfeldt-Jakob disease at the millennium
The causes and geographic distribution of 267 cases of iatrogenic Creutzfeldt-Jakob disease (CJD) are here updated at the ... Creutzfeldt-Jakob Syndrome / epidemiology* * Creutzfeldt-Jakob Syndrome / genetics* * Humans * Iatrogenic Disease / ... Iatrogenic Creutzfeldt-Jakob disease at the millennium Neurology. 2000 Oct 24;55(8):1075-81. doi: 10.1212/wnl.55.8.1075. ... The causes and geographic distribution of 267 cases of iatrogenic Creutzfeldt-Jakob disease (CJD) are here updated at the ...
MR imaging of Creutzfeldt-Jakob disease
Creutzfeldt-Jakob Syndrome / diagnosis* * Creutzfeldt-Jakob Syndrome / epidemiology * Female * Humans * Magnetic Resonance ... MR imaging of Creutzfeldt-Jakob disease Radiology. 1996 Jun;199(3):793-8. doi: 10.1148/radiology.199.3.8638007. ... Purpose: To describe the magnetic resonance (MR) imaging appearance of Creutzfeldt-Jakob disease (CJD). ...
Familiar Familial Prionlike Disorders
Creutzfeldt-Jakob disease presenting as Wernicke-Korsakoff syndrome. J Neurol Sci 1992 Apr;108(2):149-53 Pietrini V A 47-year- ... A case of Creutzfeldt-Jakob disease (CJD) with presenting Wernicke encephalopathy (WE)-like symptoms and severe insomnia is ... fragile X syndrome (FRAXA): long CGG repeats. -- fragile X syndrome FRAXE):long CGG repeats. -- myotonic dystrophy (DM): long ... However, the histological features were consistent with Creutzfeldt-Jakob disease (CJD) with focal accentuation of the changes ...
Instructions for Classifying Multiple Causes of Death, 2018 - Section III
Jakob-Creutzfeldt Syndrome A810. Code I(a) organic personality disorder, F070, since reported due to Jakob-Creutzfeldt Syndrome ... II (b) Eaton-Lambert syndrome G708. Code I(b) Eaton-Lambert syndrome unassociated with neoplasm (G708) since there is no ... 8. Eaton-Lambert syndrome (C80). Code G708 (Eaton-Lambert syndrome unassociated with neoplasm) ... Korsakov Disease, Psychosis, or Syndrome (F106). Code F04 (Nonalcoholic Korsakovs disease, psychosis, or syndrome) ...
Characterization of Sporadic Creutzfeldt-Jakob Disease and History of Neurosurgery to Identify Potential Iatrogenic Cases -...
Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. Biochem Biophys Res ... The authors thank members of the Creutzfeldt-Jakob Disease Surveillance Committee, Creutzfeldt-Jakob disease specialists, ... MRI and clinical syndrome in dura mater-related Creutzfeldt-Jakob disease. J Neurol. 2009;256:355-63. DOIPubMedGoogle Scholar ... Ishida C, Kakishima A, Okino S, Furukawa Y, Kano M, Oda Y, et al. Sporadic Creutzfeldt-Jakob disease with MM1-type prion ...
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 ...
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 ...
Enfermedad de creutzfeldt-jakob en el Perú: reporte de once casos
Keywords : Creutzfeldt-Jakob syndrome; Prion diseases; PrPSc proteins; Prions; Peru. · abstract in Spanish · text in Spanish · ... TORRES-RAMIREZ, Luis et al. Creutzfeldt-jakob disease in Peru: report of eleven cases. Rev. perú. med. exp. salud publica [ ... Creutzfeldt-Jakob disease (CJD) is a fatal neurological disease caused by pathological isoform of the human prion protein. ...
Carolyn L. Taylor, M.D. | Seattle, WA
Jennifer L. Witt, MD | Seattle,WA
2011 ICD-9-CM Diagnosis Code 046.19 : Other and unspecified creutzfeldt-jakob disease
Jakob-Creutzfeldt disease (syndrome) 046.19*. with behavioral disturbance 046.19 [294.11. ]. *. without behavioral disturbance ... Familial Creutzfeldt-Jakob disease*Iatrogenic Creutzfeldt-Jakob disease*Jakob-Creutzfeldt disease, unspecified*Sporadic ... Syndrome - see also Disease*. Creutzfeldt-Jakob 046.19*. with dementia*. with behavioral disturbance 046.19 [294.11. ] ... Creutzfeldt-Jakob disease (CJD) (syndrome) 046.19*. with dementia*. with behavioral disturbance 046.19 [294.11. ] ...
2011 ICD-9-CM Diagnosis Code 046.11 : Variant creutzfeldt-jakob disease
Syndrome - see also Disease*. Creutzfeldt-Jakob 046.19. *. with dementia*. with behavioral disturbance 046.19. [294.11. ] ... Jakob-Creutzfeldt disease (syndrome) 046.19. *. with behavioral disturbance 046.19. [294.11. ]. *. without behavioral ... Creutzfeldt-Jakob disease (CJD) (syndrome) 046.19. *. variant (vCJD) 046.11*. with dementia*. with behavioral disturbance ... Jakob-Creutzfeldt disease (CJD) (syndrome) 046.19. *. variant (vCJD) 046.11*. with dementia*. with behavioral disturbance ...
Creutzfeldt-Jakob disease: MedlinePlus Medical Encyclopedia Image
Creutzfeldt-Jakob Disease: What Is It?
Learn what Creutzfeldt-Jakob Disease is, what causes it, how its diagnosed and treated, as well as the symptoms and prognosis ... Creutzfeldt-Jakob disease. Accessed February 10, 2012. http://www.who.int/topics/creutzfeldtjakob_syndrome/en/ ... What Is Creutzfeldt-Jakob Disease (CJD)?. Creutzfeldt-Jakob (pronounced CROYZ-felt YAH-cob) disease is a very rare ... Creutzfeldt-Jakob Disease Foundation, Inc. Creutzfeldt-Jakob Disease and other Prion Diseases. Accessed February 10, 2012. http ...
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 ...
Chromosome 20 - Wikipedia
Kaspar René Nielsen
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Zhongzeng Li, MD, PhD | Olympia,WA
Prion-Related Diseases: Background, Pathophysiology, Epidemiology
Included are Creutzfeldt-Jakob disease (CJD) and Gerstmann-Sträussler-Scheinker (GSS) in humans, bovine spongiform ... Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Sträussler-Scheinker syndrome. ... Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinkers syndrome. Exp Neurol. 1989 Nov. 106(2):204 ... Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. Biochem Biophys Res ...
Browsing Publications by Subject
Dr. Alireza Atri MD Reviews | San Francisco, CA | Vitals.com
Verity C[au] - PubMed - NCBI
Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers syndrome? An analysis of a national surveillance ... Variant Creutzfeldt-Jakob disease in UK children: a national surveillance study.. Verity CM, Nicoll A, Will RG, Devereux G, ... Is there evidence of vertical transmission of variant Creutzfeldt-Jakob disease?. Murray K, Peters J, Stellitano L, Winstone AM ... Guillain-Barré syndrome and H1N1 influenza vaccine in UK children.. Verity C, Stellitano L, Winstone AM, Andrews N, Stowe J, ...
VCJDHumansKuruPrion DiseasesVariant of Creutzfeldt Jakob dBovine Spongiform EncPrionsSuggested diagnosisGerstmann-StrausslAlzheimer'sDegenerative brain disorderFamilialDiseasesCases of iatrogenicNeurologicalIatrogenicSporadic formSCJDSubtypesAtypical1974CerebralMutationDisease FoundationEncephalopathyMagnetic resonanceClinicalSymptomsAutoimmuneCerebellumHuntington'sAntibodiesHumanDeficiencyLesionDegeneration
VCJD9
- There has been concern that children with variant Creutzfeldt-Jakob disease (vCJD) might be misdiagnosed as cases of Alpers' syndrome, as a spongiform degeneration of the brain is seen in both conditions. (bmj.com)
- The results show that Alpers' syndrome is rare and it is unlikely that vCJD cases are being misdiagnosed as Alpers' syndrome. (bmj.com)
- The main aim of the PIND study is to identify any children in the United Kingdom who have developed variant Creutzfeldt-Jakob disease (vCJD). (bmj.com)
- 1 There was concern that vCJD in children might be misdiagnosed as Alpers' syndrome, for two reasons. (bmj.com)
- CJD may also be referred to as transmissible spongiform encephalopathy, vCJD, and Jacob-Creutzfeldt disease. (verywell.com)
- While its incidence has steadily declined since the cessation of its route of transmission, endocannibalism, in Papua New Guinea in the 1950s, the arrival of variant Creutzfeldt-Jakob disease (vCJD), also thought to be transmitted by dietary prion exposure, has given kuru a new global relevance. (royalsocietypublishing.org)
- The human's segment is classified into Creutzfeldt-Jakob disease, Variant Creutzfeldt-Jakob disease (vCJD), others. (medgadget.com)
- Prion diseases are fatal neurodegenerative disorders that include Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker disease, fatal familial insomnia, kuru, and variant CJD (vCJD) in humans and bovine spongiform encephalopathy (BSE) in cattle and scrapie in sheep ( 1 , 2 ). (pnas.org)
- In contrast, variant Creutzfeldt-Jakob disease (vCJD) is an acquired disorder that is most likely caused by the consumption of meat or meat products contaminated with the bovine spongiform encephalopathy agent. (thefreelibrary.com)
Humans11
- [ 1 ] Included are Creutzfeldt-Jakob disease (CJD) and Gerstmann-Sträussler-Scheinker (GSS) in humans, bovine spongiform encephalopathy (BSE, or "mad cow disease") in cattle, chronic wasting disease (CWD) in mule deer and elk, and scrapie in sheep. (medscape.com)
- a spongiform encephalopathy (prion disease) in deer or elk that is closely related to mad cow disease, scrapie in sheep, and Creutzfeldt-Jakob disease in humans. (mad-cow.org)
- In humans, TSEs are represented by Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome, Fatal Familial Insomnia and Kuru. (archives-ouvertes.fr)
- Included in this group are Creutzfeldt-Jacob disease, Gerstmann-Strüssler-Scheinker syndrome, kuru, and fatal familial insomnia in humans, mad cow disease (bovine spongiform encephalopathy), and scrapie in sheep and goats. (thefreedictionary.com)
- One such pathogen which exploits this pathway is the prion, the infectious particle responsible for the transmissible neurodegenerative diseases such as Creutzfeldt-Jakob disease (CJD) of humans or bovine spongiform encephalopathy (BSE) of cattle. (frontiersin.org)
- Prions are the infectious particles that are responsible for transmissible neurodegenerative diseases such as Creutzfeldt-Jakob disease (CJD) of humans or bovine spongiform encephalopathy (BSE) of cattle. (frontiersin.org)
- Included are Creutzfeldt-Jakob Disease, Fatal Familial Insomnia and Kuru in humans plus Scrapie in sheep. (answers.com)
- BSE belongs to a family of diseases known as transmissible spongiform encephalopathies (TSEs) that includes scrapie in sheep and goats, chronic wasting disease in deer, elk and moose, and in humans, classic and variant Creutzfeldt-Jakob disease (CJD) among other syndromes. (usda.gov)
- Sporadic Creutzfeldt-Jakob disease (CJD) is the most prevalent manifestation of the transmissible spongiform encephalopathies or prion diseases affecting humans. (edu.au)
- So far, we are following the script from 1996, when Britain issued a warning about a rise in a variant of Creutzfeldt-Jakob disease, a brain-wasting syndrome in humans that resembles mad cow disease. (seattlepi.com)
- Few people at the time questioned the assertion that there was a link between eating meat and Creutzfeldt-Jakob in humans. (seattlepi.com)
Kuru9
- Scientists had know for years that Creutzfeldt-Jakob disease and kuru could be induced by injecting extracts of diseased brains into the brains of healthy animals. (encyclopedia.com)
- TSEs include kuru, Creutzfeldt-Jakob disease , Gerstmann-Str ä ussler-Scheinker syndrome, and fatal familial insomnia. (encyclopedia.com)
- Human slow virus encephalopathies include Kuru, Creutzfeldt-Jakob disease, & Gerstmann- Straussler syndrome. (sciencephoto.com)
- Infectious forms of the disease result from ingestion of infected tissue or the introduction of infected tissue into the body ( kuru and some forms of Creutzfeldt-Jakob disease ). (thefreedictionary.com)
- The principal clinical features of kuru in the studied patients showed the same progressive cerebellar syndrome that had been previously described. (royalsocietypublishing.org)
- The human prion diseases have been traditionally classified into Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler syndrome, fatal familial insomnia and kuru. (royalsocietypublishing.org)
- Publications] Doh-ura K: 'Creutzfeldt-Jakob disease patients with Congophilic kuru plaques have the missense variant protein common to Gerstmann-Straussler syndrome. (nii.ac.jp)
- Other well known prion diseases are Kuru, which is a disease found among New Guinea natives, Gerstmann-Straussler-Scheinker disease and the variant Creutzfeldt-Jakob disease, which is believed to be caused by the ingestion of products tainted with BSE. (kenyon.edu)
- Here, we directly compare the transmission properties of kuru prions with sporadic, iatrogenic, and variant Creutzfeldt-Jakob disease (CJD) prions in Prnp -null transgenic mice expressing human prion protein and in wild-type mice. (pnas.org)
Prion Diseases6
- Creutzfeldt-Jakob Disease Foundation, Inc. Creutzfeldt-Jakob Disease and other Prion Diseases. (verywell.com)
- Familial cases of other prion diseases are known as Gerstmann-Sträussler-Scheinker syndrome (GSS) and fatal familial insomnia (FFI). (news-medical.net)
- Genetic prion diseases constitute a continuum of clinical and pathologic manifestations broadly segregated into three principal phenotypes designated as familial Creutzfeldt-Jakob disease (fCJD), Gerstmann-Sträussler-Scheinker (GSS) syndrome, and familial fatal insomnia (FFI). (nature.com)
- He described his interest in the topic as stemming from an encounter with a patient of his that succumbed to Creutzfeldt-Jakob disease (a prion diseases) in a mere two months. (123helpme.com)
- Prion diseases comprise Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome, fatal familial insomnia and related disorders. (wikipedia.org)
- Aside from patients with Creutzfeldt-Jakob disease and other prion diseases, referrals are welcome of healthy but at-risk individuals from families with inherited prion disease. (wikipedia.org)
Variant of Creutzfeldt Jakob d1
- In the next segment, Dr. Ryan Overman is reading our e-Pearl of the week about the Heidenhain variant of Creutzfeldt Jakob disease. (aan.com)
Bovine Spongiform Enc3
- For related information, see Medscape Reference article Variant Creutzfeldt-Jakob Disease and Bovine Spongiform Encephalopathy . (medscape.com)
- Examples include severe acute respiratory syndrome, bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease, highly pathogenic avian influenza, and haemorrhagic fevers such as Rift Valley fever. (who.int)
- First, there is no direct evidence that Creutzfeldt-Jakob comes from the ingestion of contaminated beef, or that the syndrome deserves its reputation as the "human form" of bovine spongiform encephalopathy. (seattlepi.com)
Prions2
- So-called 'mad cow disease' is just one example of the syndromes that can be caused by prions. (creation.com)
- or prions (Creutzfeldt-Jakob disease). (encyclopedia.com)
Suggested diagnosis1
- Alpers' syndrome was confirmed in two, although this was the suggested diagnosis in 11 children at the time of initial notification. (bmj.com)
Gerstmann-Straussl1
- Publications] Tateishi J: 'Immunochemical,Molecular genetic,and transmission studies on a case of Gerstmann-Straussler-Scheinker syndrome. (nii.ac.jp)
Alzheimer's4
- Am J Med 56:545-553, 1974 CornParison of Survival Tim& of Mice Inoculated with Brain Tissue from Various Neurological Diseases Leighton W. Greenham, PhD, and David B. Peacock, MB, ChB ~ ~ Mice inoculated intracerebrally before the age of 5 days with homogenates of autopsied brain tissue from patients with Creutzfeldt-Jakob (C-J), Alzheimer's, or Picks diseases showed highly significant decreases in life span when compared with sham-inoculated control mice. (docme.ru)
- parkinsonism that accompanies other neurological conditions - such as Shy-Drager syndrome (multiple system atrophy), progressive supranuclear palsy, Wilson's disease, Huntington's disease, Hallervorden-Spatz syndrome, Alzheimer's disease, Creutzfeldt-Jakob disease, olivopontocerebellar atrophy, post-traumatic encephalopathy, and dementia with Lewy bodies. (rochester.edu)
- Dementia is not an actual condition: it is an umbrella term for a series of symptoms which occur as a result of brain disorders such as Alzheimer's disease, Korsakoff's syndrome, vascular dementia and Creutzfeldt-Jakob disease (CJD). (medic8.com)
- Posterior cortical atrophy (PCA), also called Benson's syndrome, is a rare form of dementia which is considered a visual variant or an atypical variant of Alzheimer's disease (AD). (wikipedia.org)
Degenerative brain disorder1
- Creutzfeldt-Jakob disease (CJD) is a rare, degenerative brain disorder . (medlineplus.gov)
Familial1
- Studies on polymorphism of the prion protein gene in familial Creutzfeldt-Jakob disease. (nii.ac.jp)
Diseases2
- The original statement was "Electrodes must be disinfected with appropriate procedures and transmission-based precautions taken after recording from patients with contagious diseases (e.g., viral hepatitis, Creutzfeldt-Jakob disease, acquired immunodeficiency syndrome) (Scott 2013). (lww.com)
- Additional transmission-based precautions are needed after recording from patients with contagious diseases (e.g., viral hepatitis, Creutzfeldt-Jakob disease, acquired immunodeficiency syndrome) (Scott 2013). (lww.com)
Cases of iatrogenic1
- The causes and geographic distribution of 267 cases of iatrogenic Creutzfeldt-Jakob disease (CJD) are here updated at the millennium. (nih.gov)
Neurological3
- Creutzfeldt-Jakob disease (CJD) is a fatal neurological disease caused by pathological isoform of the human prion protein. (scielo.org.pe)
- Ataxia is a neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. (bmj.com)
- The Creutzfeldt-Jakob disease (CJD) neurological status scale: a new tool for evaluation of disease severity and progression. (semanticscholar.org)
Iatrogenic1
- We previously reported a phenotype of Creutzfeldt-Jakob disease (CJD), CJD-MMiK, that could help identify iatrogenic CJD. (cdc.gov)
Sporadic form2
- All the cases belonged to the sporadic form of Jakob Creutzfeldt disease. (elsevier.com)
- The most common human prion disease is the sporadic form of Creutzfeldt-Jakob disease (sCJD), which occurs worldwide with a relatively uniform incidence of 1-2 cases per million population per year, a peak incidence in the 7th decade of life, and a median duration of illness of 4 months. (thefreelibrary.com)
SCJD1
- The purpose of this clinical trial is to determine the effectiveness of the medication quinacrine on survival in sporadic Creutzfeldt-Jakob disease (sCJD). (clinicaltrials.gov)
Subtypes2
- 14-3-3 CSF levels in sporadic Creutzfeldt-Jakob disease differ across molecular subtypes. (uzh.ch)
- Quantification of surviving cerebellar granule neurones and abnormal prion protein (PrPSc) deposition in sporadic Creutzfeldt-Jakob disease supports a pathogenic role for small PrPSc deposits common to the various molecular subtypes. (semanticscholar.org)
Atypical1
- Parkinson's Syndrome, Atypical Parkinson's, or Parkinsonism. (rochester.edu)
19741
- Tarnowska Dziduszko, E & Majtényi, K 1974, ' UBER DIE MORPHOLOGISCHEN VERANDERUNGEN DES KLEINHIRNS BEI DER JAKOB CREUTZFELDTSCHEN KRANKHEIT ', Neuropatologia Polska , vol. 12, no. 2, pp. 285-290. (elsevier.com)
Cerebral1
- Publications] Kitamoto T: 'Cerebral amyloid in mice with Creutzfeldt-Jakob disease is influenced by the strain of the infections agent. (nii.ac.jp)
Mutation2
Disease Foundation2
- Creutzfeldt-Jakob Disease Foundation, Inc. CJD Fact Sheet. (verywell.com)
- The Creutzfeldt-Jakob Disease Foundation consists of members who are concerned about the complexity of issues surrounding this fatal brain disease. (diseaseinfosearch.org)
Encephalopathy1
- 2- 4 Second, it is reported that a spongiform encephalopathy was produced in hamsters following the inoculation of brain tissue from a young child with Alpers' syndrome. (bmj.com)
Magnetic resonance3
- To describe the magnetic resonance (MR) imaging appearance of Creutzfeldt-Jakob disease (CJD). (nih.gov)
- Magnetic resonance imaging of Creutzfeldt-Jacob disease. (biomedsearch.com)
- We report a biopsy-diagnosed patient with Creutzfeldt-Jacob disease showing on magnetic resonance images bilateral increased signal intensity in the basal ganglia on long repetition time images. (biomedsearch.com)
Clinical4
- Finding the right clinical trial for Creutzfeldt-Jakob disease can be challenging. (diseaseinfosearch.org)
- MRI and clinical syndrome in dura materrelated Creutzfeldt-Jakob disease. (uzh.ch)
- Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. (uzh.ch)
- Some cases with rapid onset dementia mimicking Creutzfeldt-Jakob disease (CJD) disease both from a clinical and EEG point of view have also been described [ 5 , 6 ]. (omicsonline.org)
Symptoms5
- It is a syndrome (group of symptoms) associated with a progressive loss of memory and other intellectual functions that is serious enough to interfere with performing the tasks of daily life. (encyclopedia.com)
- Doctors suspect stiff-person syndrome based on symptoms but use electromyography and blood tests to help confirm the diagnosis. (merckmanuals.com)
- Stiff-person syndrome (formerly called stiff-man syndrome) affects mainly the brain and spinal cord (the central nervous system), but it causes symptoms similar to those of neuromuscular junction disorders (disorders that affect the connection between nerves and muscles). (merckmanuals.com)
- The diagnosis of stiff-person syndrome is suggested by symptoms. (merckmanuals.com)
- Treatment of stiff-person syndrome focuses on relieving symptoms. (merckmanuals.com)
Autoimmune3
- Stiff-person syndrome often occurs in people with type 1 diabetes, certain autoimmune disorders, or certain kinds of cancer. (merckmanuals.com)
- Stiff-person syndrome is more common among women and often occurs in people with type 1 diabetes, certain autoimmune disorders (such as thyroiditis ), or certain kinds of cancer, including breast cancer (most commonly), lung cancer, kidney cancer, thyroid cancer, colon cancer, and Hodgkin lymphoma . (merckmanuals.com)
- The cause of stiff-person syndrome may be an autoimmune reaction -when the body produces antibodies that attack its own tissues. (merckmanuals.com)
Cerebellum1
- The assumption is justified that in Jakob Creutzfeldt disease the pathologic process in the cerebellum takes place mainly in the Purkinje cell layer and Bergmann's glia layer, presumably at the same time, and that it is based on a disturbance of the glioneural unit in the sense of Seitelberger's glioneural dystrophy. (elsevier.com)
Huntington's1
- Hence, SCA17 is also classified as a Huntington's disease like syndrome. (springer.com)
Antibodies3
- In stiff-person syndrome, these antibodies attack nerve cells in the spinal cord that control muscle movement. (merckmanuals.com)
- Most people with stiff-person syndrome have antibodies that attack an enzyme called glutamic acid decarboxylase. (merckmanuals.com)
- They include electromyography and blood tests to detect the antibodies that are present in many people with stiff-person syndrome. (merckmanuals.com)
Human7
- The terms "Creutzfeldt-Jakob disease" returned 605 free, full-text research articles on human participants. (diseaseinfosearch.org)
- Early-onset AD is also associated with Down syndrome, in that persons with trisomy 21 (three forms of human chromosome 21 instead of a pair) often develop early-onset AD. (encyclopedia.com)
- The research published in the Lancet medical journal suggests that mad cow disease and its deadly human variant, Creutzfeldt-Jakob syndrome, can be traced to animal feed exported from India to Britain. (abc.net.au)
- Looking for better explanations, Professor Colchester turned to India, where he says poor bone collectors who scour river areas for animal remains to sell to animal feed exporters, would inevitably collect human remains also - some infected with Creutzfeld-Jakob disease, or CJD. (abc.net.au)
- Creutzfeldt-Jakob disease (CJD) is a human prion disease, extremely rare yet always fatal. (news-medical.net)
- Meat products contaminated with Mad Cow have been linked to more than 150 human deaths worldwide, mostly in Britain, from a brain-wasting syndrome known as Creutzfeldt-Jakob Disease. (radioiowa.com)
- However, BSE is also heavily linked to the human condition of Creutzfeldt-Jakob Syndrome, therefore again making the wider issue of BSE something that straddles several areas within the health, medical and life sciences. (ariadne.ac.uk)
Deficiency1
- Jaffe HW, Bregrnan DJ, Selik RM: Acquired immune deficiency syndrome in the United States: the first 1000 cases. (docme.ru)
Lesion2
Degeneration1
- Alpers' syndrome (also known as Alpers' disease or progressive neuronal degeneration of childhood) usually starts in children under two years (see table 1). (bmj.com)