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 ... Its aim is to diagnose and treat patients with any form of human prion disease (Creutzfeldt-Jakob disease, CJD). In addition, ... Aside from patients with Creutzfeldt-Jakob disease and other prion diseases, referrals are welcome of healthy but at-risk ... collaboration with the UK Health Protection Agency referrals are received from individuals at risk of variant Creutzfeldt-Jakob ...
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. ...
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 ...
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 Gerstmann-Sträussler-Scheinker syndrome Kuru Variably protease-sensitive prionopathy ... Sydenham's chorea Acute disseminated encephalomyelitis Guillain-Barré syndrome Central nervous system viral disease ... Subacute sclerosing panencephalitis Progressive multifocal leukoencephalopathy Acquired immunodeficiency syndrome (AIDS) ...
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 ...
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 ...
Transmissible spongiform encephalopathy
TSEs of humans include Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker syndrome, fatal familial insomnia, kuru, as ... Classic Creutzfeldt-Jakob disease (CJD) was discovered in 1920. It occurs sporadically over the world but is very rare. It ... Variant Creutzfeldt-Jakob disease (vCJD) was discovered in 1996 in England. There is strong evidence to suggest that vCJD was ... Creutzfeldt-Jakob disease itself has four main forms, the sporadic (sCJD), the hereditary/familial (fCJD), the iatrogenic (iCJD ...
Chromosome 20
Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) PXMP4: encoding protein Peroxisomal ... Albright's hereditary osteodystrophy Arterial tortuosity syndrome Adenosine deaminase deficiency Alagille syndrome Fatal ... Alagille syndrome) JPH2: encoding protein Junctophilin 2 KIZ: encoding protein Kizuna centrosomal protein Kua-UEV: LIME1: ... Waardenburg syndrome G-banding ideograms of human chromosome 20 "Human Genome Assembly GRCh38 - Genome Reference Consortium". ...
New Brunswick neurological syndrome of unknown cause
The investigation into the cluster was instigated in 2019 at the federal level by the Ottawa-based Creutzfeldt-Jakob Disease ... Coulthart, M. B.; Cashman, N. R. (2001). "Variant Creutzfeldt-Jakob disease: A summary of current scientific knowledge in ... Vlessides, Michael (25 March 2021). "Canadians Investigating Outbreak of Creutzfeldt-Jakob Lookalike". Medscape. Retrieved 4 ... including Creutzfeldt-Jakob Disease (CJD) - an incurable, fatal disease. Marrero and Coulthart and colleagues worked for months ...
Alice in Wonderland syndrome
"Alice in Wonderland Syndrome as a Presenting Manifestation of Creutzfeldt-Jakob Disease". Frontiers in Neurology. 10: 473. doi: ... The syndrome is sometimes called Todd's syndrome, in reference to a description of the condition in 1955 by Dr. John Todd (1914 ... Alice in Wonderland syndrome (AIWS), also known as Todd's syndrome or dysmetropsia, is a neuropsychological condition that ... "What Is Alice in Wonderland Syndrome?". WebMD. Retrieved 2018-09-06. Hemsley R (2017). "Alice in Wonderland Syndrome". aiws. ...
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 ... Febrile seizures Fisher syndrome Fibromyalgia Foville's syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome ... syndrome Shingles Shy-Drager syndrome Sjögren's syndrome Sleep apnea Sleeping sickness Slurred speech Snatiation Sotos syndrome ...
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 ... Rare syndromes, Syndromes affecting the nervous system, Transmissible spongiform encephalopathies). ... Gerstmann-Sträussler-Scheinker syndrome (GSS) is an extremely rare, usually familial, fatal neurodegenerative disease that ...
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 ...
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 ... Diminished sensitivity to reward may be a key component of the syndrome in Parkinson's disease. While apathy and anxiety may ... It is also known to be a distinct psychiatric syndrome that is associated with many conditions, some of which are: ...
Parkinson's disease
Arthritis Creutzfeldt-Jakob disease Dystonia Depression Fragile X-associated tremor/ataxia syndrome Frontotemporal dementia and ... The dopamine dysregulation syndrome - with wanting of medication leading to overuse - is a rare complication of levodopa use. ... Parkinson-plus syndromes, such as progressive supranuclear palsy and multiple system atrophy, must also be considered and ruled ... Other Parkinson-plus syndromes involve tau, rather than alpha-synuclein. These include progressive supranuclear palsy (PSP) and ...
Alien hand syndrome
... corticobasal degeneration and Creutzfeldt-Jakob disease. Other areas of the brain that are associated with alien hand syndrome ... Alien hand syndrome (AHS) or Dr. Strangelove syndrome is a category of conditions in which a person experiences their limbs ... Apraxia and Related Syndromes at eMedicine Kischka, U; Ettlin, TM; Lichtenstern, L; Riedo, C (1996). "Alien hand syndrome of ... Strangelove syndrome" was suggested as the official name for AHS. This was not approved, though it is sometimes used as an ...
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 ... Corticobasal syndrome, Cognitive disorders, Neurodegenerative disorders, Rare syndromes). ... May 2019). "Corticobasal syndrome: neuroimaging and neurophysiological advances". Eur. J. Neurol. 26 (5): 701-e52. doi:10.1111/ ...
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 ... "Neurocognitive Disorders (Organic Brain Syndrome)". 16 July 2012. "MedlinePlus Medical Encyclopedia: Organic brain syndrome". ...
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 ...
Chronic traumatic encephalopathy
... and Creutzfeldt-Jakob disease. In a small study of 5 retired NFL players with cognitive and mood symptoms, the PET scans ... CTE was originally studied in boxers in the 1920s as "punch-drunk syndrome." Punch-drunk syndrome was first described in 1928 ... Differentiating between prolonged post-concussion syndrome (PCS, where symptoms begin shortly after a concussion and last for ... and punch-drunk syndrome. The seminal work on the disease came from British neurologist Macdonald Critchley, who in 1949 wrote ...
PSMD7
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
List of diseases (C)
Creutzfeldt-Jakob disease Cri du chat Crigler-Najjar syndrome Crisponi syndrome Criss cross syndrome Criswick-Schepens syndrome ... CCA syndrome Ccge syndrome CCHS CDG syndrome CDG syndrome type 1A CDG syndrome type 1B CDG syndrome type 1C CDG syndrome type 2 ... syndrome Coffin-Siris syndrome COFS syndrome Cogan-Reese syndrome Cogan syndrome Cohen-Gibson syndrome Cohen-Hayden syndrome ... syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Cockayne's syndrome Codas syndrome Codesette syndrome Coeliac ...
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, Montauk Knee or sheep tick fever. Since 1976 the disease is ... In this syndrome, radicular pain tends to start in the same body region as the initial erythema migrans rash, if there was one ... The full syndrome now known as Lyme disease was not recognized until a cluster of cases originally thought to be juvenile ...
PSMB3
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ...
PSMD5
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
PSMD14
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
List of OMIM disorder codes
CAV3 Creutzfeldt-Jakob disease; 123400; PRNP Crigler-Najjar syndrome type I; 218800; UGT1A1 Crigler-Najjar syndrome type II; ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
PSMA3
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
List of laboratory biosecurity incidents
"Variant Creutzfeldt-Jakob Disease Diagnosed 7.5 Years after Occupational Exposure". New England Journal of Medicine. 383 (1): ... "SARS (Severe Acute Respiratory Syndrome)". www.cdc.gov.tw. "SARS escaped Beijing lab twice". The Scientist Magazine®. "Russian ...
PSMB10
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
Eradication of infectious diseases
"Creutzfeldt-Jakob disease in the UK" (PDF). The National CJD Research & Surveillance Unit, University of Edinburgh. 4 March ... The WHO region of the Americas declared on 29 April 2015 it had eliminated rubella and congenital rubella syndrome. The last ... Following an epidemic of variant Creutzfeldt-Jakob disease (vCJD) in the UK in the 1990s, there have been campaigns to ... the WHO regions of Africa and South-East Asia have the highest rates of congenital rubella syndrome and a 2013 outbreak of ...
PSMD1
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
Infection
The prion causing mad cow disease and Creutzfeldt-Jakob disease invariably kills all animals and people that are infected. ... E.g. HIV, Rhinovirus, Lyssaviruses such as Rabies virus, Ebolavirus and Severe acute respiratory syndrome coronavirus 2) Fungi ...
PSMD8
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
List of acronyms: S
Sporadic Creutzfeldt-Jakob disease SCM - (i) Surface Contamination Module SCMODS - (s) State, County, Municipal Offender Data ... severe acute respiratory syndrome (i) = initialism, e.g.: CD - (i) compact disc (p) = pseudo-blend, e.g.: UNIFEM - (p) United ... Sudden infant death syndrome SIDU - (i) select, insert, delete, update. See Create, read, update and delete SIF - (i) Selective ... severe acute respiratory syndrome, pronounced to rhyme with cars initialism = an abbreviation pronounced wholly or partly using ...
Foodborne illness
Poisonous hemlock (conium) has medicinal uses.[citation needed] Prions, resulting in Creutzfeldt-Jakob disease (CJD) and its ... Most common bacterial foodborne pathogens are: Campylobacter jejuni which can lead to secondary Guillain-Barré syndrome and ... a measure designed to lessen the risk of infection by variant Creutzfeldt-Jakob disease. The petition was supported by the ... pulmonary edema syndrome (PES) in pigs, liver cancer in rats and esophageal cancer in humans. For human and animal health, both ...
Kuru (disease)
The epidemic likely started when a villager developed sporadic Creutzfeldt-Jakob disease and died. When villagers ate the brain ... Zigas, Vincent; Gajdusek, Daniel (23 November 1957). "Kuru: Clinical study of a new syndrome resembling paralysis agitans of ... such as Creutzfeldt-Jakob disease and Alzheimer's disease. Kuru was first described in official reports by Australian officers ... Creutzfeldt-Jakob Disease, and Scrapie to Nonhuman Primates". The Journal of Infectious Diseases. 142 (2): 205-208. doi:10.1093 ...
Abnormal posturing
Obi, T; Takatsu M; Kitamoto T; Mizoguchi K; Nishimura Y (1996). "A case of Creutzfeldt-Jakob disease (CJD) started with ... In herniation syndrome, which is indicative of brain herniation, decorticate posturing occurs, and, if the condition is left ... Posturing has also been displayed by patients with Creutzfeldt-Jakob disease, diffuse cerebral hypoxia, and brain abscesses. It ... However, Reye's syndrome and traumatic brain injury can both cause decorticate posturing in children. For reasons that are ...
Dura mater
... a risk factor due to concerns about Creutzfeldt-Jakob disease. Cerebellar tonsillar ectopia, or Chiari, is a condition that was ... such as Marfan syndrome and Ehlers-Danlos syndrome. These conditions are sometimes found in conjunction with Arnold-Chiari ...
PSMD9
Creutzfeldt-Jakob disease, and motor neuron diseases, polyglutamine (PolyQ) diseases, Muscular dystrophies and several rare ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease". Neuroscience Letters. 139 (1): 47-9. doi: ...
Browsing by Subject "Creutzfeldt-Jakob Syndrome"
Rapport de l atelier de travail OMS sur la surveillance de la maladie de Creutzfeldt-Jakob (MCJ) et les autres ence ... Promising approaches for a serum diagnostic test in Creutzfeldt-Jakob disease : reports on individual drugs ... WHO Consultation on Clinical and Neuropathological Characteristics of the New Variant of Creutzfeldt-Jakob Disease and Other ... santé publique et caractéristiques cliniques et neuropathologiques de la nouvelle variante de la maladie de Creutzfeldt-Jakob ...
Browsing by Subject "Creutzfeldt-Jakob Syndrome"
Rapport de l atelier de travail OMS sur la surveillance de la maladie de Creutzfeldt-Jakob (MCJ) et les autres ence ... Promising approaches for a serum diagnostic test in Creutzfeldt-Jakob disease : reports on individual drugs ... WHO Consultation on Clinical and Neuropathological Characteristics of the New Variant of Creutzfeldt-Jakob Disease and Other ... santé publique et caractéristiques cliniques et neuropathologiques de la nouvelle variante de la maladie de Creutzfeldt-Jakob ...
Drug-induced Creutzfeldt-Jakob disease-like syndrome: early CSF analysis as useful tool for differential diagnosis | BMJ Case...
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 ... Diagnosing Sporadic Creutzfeldt-Jakob Disease: Accuracy of CSF 14-3-3 Protein Test of the Spinal Fluid (American Academy of ...
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 ...
Results of search for 'ccl=su:{Veterinary Public Health and Zoonoses} and su-to:Creutzfeldt-Jakob syndrome and location:ONLINE...
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Robin Sellar - Research output - University of Edinburgh Research Explorer
Creutzfeldt-Jakob Syndrome 87% * Posterior Thalamic Nuclei 12% * Bovine Spongiform Encephalopathy 10% ... FLAIR MRI in sporadic Creutzfeldt-Jakob disease. Zeidler, M., Collie, D. A., Macleod, M. A., Sellar, R. J., Knight, R. & Sellar ... MRI of Creutzfeldt-Jakob disease: imaging features and recommended MRI protocol. Collie, D. A., Sellar, R. J., Zeidler, M., ... The pulvinar sign and diagnosis of Creutzfeldt-Jakob disease. Summers, D. M., Collie, D. A., Sellar, R. J., Zeidler, M., Knight ...
2011 ICD-9-CM Diagnosis Code 293.81 : Psychotic disorder with delusions in conditions classified elsewhere
Amyloidosis: Definition of Amyloid and Amyloidosis, Classification Systems, Systemic Amyloidoses
Creutzfeldt-Jakob disease [CJD], Gerstmann-Sträussler-Scheinker [GSS] syndrome, fatal familial insomnia [FFI]). The infectious ... What are the types of cryopyrin-associated periodic syndrome (CAPS)?. How is cryopyrin-associated periodic syndrome (CAPS) ... as well as Mad Cow Disease and Variant Creutzfeldt-Jakob Disease. ... Carpal tunnel syndrome can be the presenting sign of primary or ... Cryopyrin-associated periodic syndrome (CAPS)-associated amyloidosis. Types of CAPS include the following:. * Familial cold ...
Amyloidosis: Definition of Amyloid and Amyloidosis, Classification Systems, Systemic Amyloidoses
Creutzfeldt-Jakob disease [CJD], Gerstmann-Sträussler-Scheinker [GSS] syndrome, fatal familial insomnia [FFI]). The infectious ... What are the types of cryopyrin-associated periodic syndrome (CAPS)?. How is cryopyrin-associated periodic syndrome (CAPS) ... as well as Mad Cow Disease and Variant Creutzfeldt-Jakob Disease. ... Carpal tunnel syndrome can be the presenting sign of primary or ... Cryopyrin-associated periodic syndrome (CAPS)-associated amyloidosis. Types of CAPS include the following:. * Familial cold ...
Alzheimer's and protein solubility | Matt Ridley
Characterization of truncated forms of abnormal prion protein in Creutzfeldt-Jakob disease<...
Creutzfeldt-Jakob Syndrome Medicine & Life Sciences 100% * Prion Proteins Medicine & Life Sciences 94% ... Characterization of truncated forms of abnormal prion protein in Creutzfeldt-Jakob disease. In: Journal of Biological Chemistry ... Characterization of truncated forms of abnormal prion protein in Creutzfeldt-Jakob disease. Journal of Biological Chemistry. ... We characterized a novel protease-resistant PrP fragment migrating 2-3 kDa faster than PrP27-30 in Creutzfeldt-Jakob disease ( ...
Korsakoff Syndrome | Symptoms & Treatments | alz.org
Korsakoff syndrome - learn about symptoms, treatments and causes, including alcohol misuse, and how this memory disorder ... Read more: Creutzfeldt-Jakob Disease. Read more: Caregiving. Read more: Dementia with Lewy Bodies ... Korsakoff syndrome is a chronic memory disorder caused by severe deficiency of thiamine (vitamin B-1). Korsakoff syndrome is ... alcohol use and pattern of memory problems may be consistent with Korsakoff syndrome. For those who develop Korsakoff syndrome ...
IMSEAR at SEARO: Fulminant Sporadic Creutzfeldt Jakob Disease with a rare Presentation of Psychosis.
Creutzfeldt-Jakob Syndrome --complications. -. dc.subject.mesh. Creutzfeldt-Jakob Syndrome -diagnosis. -. dc.subject.mesh. ... Fulminant Sporadic Creutzfeldt Jakob Disease with a rare Presentation of Psychosis. Delhi Psychiatry journal. 2012 Oct; 15(2): ... Fulminant Sporadic Creutzfeldt Jakob Disease with a rare Presentation of Psychosis.. en_US. ... Creutzfeldt-Jakob Syndrome --drug therapy. -. dc.subject.mesh. Creutzfeldt-Jakob Syndrome --psychology. - ...
MH DELETED MN ADDED MN
Creutzfeldt-Jakob Syndrome F3.87.400.300 F3.615.400.300 Crimean War I1.880.735.950.250.469 Croatia Z1.586.980.295 Cromakalim ... Munchausen Syndrome F3.400.600 F3.875.375.600 Munchausen Syndrome by Proxy F3.400.800 F3.875.375.800 Mupapillomavirus B4.280. ... Wiskott-Aldrich Syndrome C20.673.972 Withanolides D10.570.938.795.287.888 Wolfram Syndrome C16.131.77.951 Wood A18.700.888 ... Lesch-Nyhan Syndrome C10.574.500.536 C16.320.400.500 Lethal Dose 50 G7.690.520 G7.225.500 G7.690.773.875.750 G7.690.936.500.750 ...
Psychiatric manifestations of Creutzfeldt-Jakob disease: A 25-year analysis<...
Creutzfeldt-Jakob Syndrome Medicine & Life Sciences 100% * Sporadic Creutzfeldt-Jakob Disease Medicine & Life Sciences 88% ... Psychiatric manifestations of Creutzfeldt-Jakob disease: A 25-year analysis. Christopher A. Wall, Teresa A. Rummans, Allen J. ... Psychiatric manifestations of Creutzfeldt-Jakob disease : A 25-year analysis. / Wall, Christopher A.; Rummans, Teresa A.; ... Psychiatric manifestations of Creutzfeldt-Jakob disease: A 25-year analysis. Journal of Neuropsychiatry and Clinical ...
OMNI Corner: Information or Hysteria, 'Talking sensibly' in the Biomedical Field - Ariadne
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RePub, Erasmus University Repository:
Risk factors for Creutzfeldt-Jakob disease: a reanalysis of case-control studies.
Animals, Case-Control Studies, Cattle, Creutzfeldt-Jakob Disease, Creutzfeldt-Jakob Syndrome/*epidemiology/*etiology/genetics, ... Risk factors for Creutzfeldt-Jakob disease: a reanalysis of case-control studies.. Publication. Publication. Neurology , Volume ... To review the evidence for risk factors of Creutzfeldt-Jakob disease (CJD), we pooled and reanalyzed the raw data of three case ... Risk factors for Creutzfeldt-Jakob disease: a reanalysis of case-control studies. Neurology, 46, 1287-1291. Retrieved from http ...
View source for Bovine spongiform encephalopathy - microbewiki
177 people died after contracting variant Creutzfeldt-Jakob disease, whom are believed to have been caused by eating cattle ... Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI). 10-15% of these disorders are caused by ... causing the disease.The Variant Creutzfeldt-Jakob disease is an example of an acquired disease because it can be obtained from ... Gerstmann-Straussler-Scheinker disease and the variant Creutzfeldt-Jakob disease, which is believed to be caused by the ...
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 ...
The first case of variant Creutzfeldt-Jakob disease in The Netherlands. - Oxford Big Data Institute
Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease. -...
... plays a central role in the origin of Creutzfeldt-Jakob disease (CJD), but there is growing interest in other polymorphisms ... Adult, Aged, Aged, 80 and over, Alleles, Amino Acid Substitution, Creutzfeldt-Jakob Syndrome, Female, GPI-Linked Proteins, Gene ... Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease. ... The prion protein gene (PRNP) plays a central role in the origin of Creutzfeldt-Jakob disease (CJD), but there is growing ...
Occurrence and Transmission | Creutzfeldt-Jakob Disease, Classic (CJD) | Prion Disease | CDC
These inherited forms include Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. Death records are a good ... Creutzfeldt-Jakob Disease Deaths and Age-Adjusted Death Rate, United States, 1979-2020*. Year. Deaths (approximate). Age- ... Creutzfeldt-Jakob disease deaths and age-adjusted death rate, United States, 1979-2020*. ...
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DeCS
Jacob Disease, Creutzfeldt Jakob Creutzfeldt Disease Jakob Creutzfeldt Syndrome Jakob-Creutzfeldt Disease Jakob-Creutzfeldt ... Jakob Creutzfeldt Syndrome. Jakob-Creutzfeldt Disease. Jakob-Creutzfeldt Syndrome. New Variant Creutzfeldt Jakob Disease. New ... Creutzfeldt-Jakob Disease) Creutzfeldt Jacob Disease Creutzfeldt Jakob Disease Creutzfeldt Jakob Syndrome Creutzfeldt-Jakob ... Syndrome, Creutzfeldt-Jakob. Syndrome, Jakob-Creutzfeldt. V CJD (Variant Creutzfeldt Jakob Disease). V-CJD (Variant-Creutzfeldt ...
Kang, P.<...
Monitoring rhGH Safety: rhGH Registries, SAGhE and Future Needs<...
Creutzfeldt-Jakob Syndrome Medicine & Life Sciences 22% * Human Growth Hormone Medicine & Life Sciences 21% ... The identification of Creutzfeldt-Jacob disease in individuals who received pituitary-derived GH led to heightened surveillance ... The identification of Creutzfeldt-Jacob disease in individuals who received pituitary-derived GH led to heightened surveillance ... The identification of Creutzfeldt-Jacob disease in individuals who received pituitary-derived GH led to heightened surveillance ...
DiseaseVariantGerstmann-StrausslParkinson'sDementiaPsychosisIncrease susceptibilityLife SciencesBrainClinicalDiseasesDiagnosisSymptomsPathologyCognitiveAIDSChronicTermSporadicGERSTMANN-STRAUSSLHumansIatrogenicFamilialCaused by prionsCorticobasal degenerationEncephalopathyAlzheimer'sSymptomsEncephalitisAlfons MariaPrionsNeurologicalPrion proteinType of prionPathologicalDisorderParkinson1921PoliomyelitisSimilaritiesCerebrospinalApraxiaProgressiveAutoimmuneInfectious agentsInfection
Disease46
- Creutzfeldt-Jakob disease (CJD) is a rare, degenerative brain disorder . (medlineplus.gov)
- We previously reported a phenotype of Creutzfeldt-Jakob disease (CJD), CJD-MMiK, that could help identify iatrogenic CJD. (cdc.gov)
- For patient education information, see the Brain and Nervous System Center , as well as Mad Cow Disease and Variant Creutzfeldt-Jakob Disease . (medscape.com)
- We characterized a novel protease-resistant PrP fragment migrating 2-3 kDa faster than PrP27-30 in Creutzfeldt-Jakob disease (CJD) brains. (elsevier.com)
- IMSEAR at SEARO: Fulminant Sporadic Creutzfeldt Jakob Disease with a rare Presentation of Psychosis. (who.int)
- This study characterizes the type and timing of psychiatric manifestations in sporadic Creutzfeldt-Jakob disease (sCJD). (elsevier.com)
- RePub, Erasmus University Repository: Risk factors for Creutzfeldt-Jakob disease: a reanalysis of case-control studies. (eur.nl)
- To review the evidence for risk factors of Creutzfeldt-Jakob disease (CJD), we pooled and reanalyzed the raw data of three case-control studies. (eur.nl)
- Other well known prion diseases are Kuru, which is a disease found among New Guinea natives, Gerstmann-Straussler-Scheinker disease and the variant Creutzfeldt-Jakob disease, which is believed to be caused by the ingestion of products tainted with BSE. (kenyon.edu)
- The most common type of Prion Diseases afflicting humans are Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI). (kenyon.edu)
- The first case of variant Creutzfeldt-Jakob disease in The Netherlands. (ox.ac.uk)
- Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease. (ox.ac.uk)
- The prion protein gene (PRNP) plays a central role in the origin of Creutzfeldt-Jakob disease (CJD), but there is growing interest in other polymorphisms that may be involved in CJD. (ox.ac.uk)
- The identification of Creutzfeldt-Jacob disease in individuals who received pituitary-derived GH led to heightened surveillance for safety issues related to recombinant human GH (rhGH). (elsevier.com)
- Ingestion of meat products from animals infected with BSE has resulted in transmission of the disease to humans as a variant form of Creutzfeldt-Jakob Disease (vCJD). (elsevier.com)
- The only variant Creutzfeldt-Jakob disease (vCJD) patient identified in the United States died in 2004, and the diagnosis was confirmed by analysis of autopsy tissue. (cdc.gov)
- Variant Creutzfeldt-Jakob disease (vCJD) was first reported in 1996 in the United Kingdom and has been causally linked to eating cattle products contaminated with the bovine spongiform encephalopathy (BSE) agent ( 1 - 3 ). (cdc.gov)
- Histopathologic changes in frontal cerebral cortex of the patient who died of variant Creutzfeldt-Jakob disease in the United States. (cdc.gov)
- Possible transmission of variant Creutzfeldt-Jakob disease by blood transfusion. (notifylibrary.org)
- In addition to Alzheimer's Disease other causes of dementia in older people are multi-infarct dementia which is caused by a series of strokes (as many as 40% of case of dementia are due to this syndrome), Creutzfeldt-Jakob disease, normal pressure hydrocephalus, Pick's disease, Parkinson's disease, Lewy body disease, and Huntington's disease. (medicine-opera.com)
- Creutzfeldt-Jakob Disease (CJD) is a very rare and incurable brain disease that is ultimately fatal. (academickids.com)
- A new variant of the disease (usually called just variant Creutzfeldt-Jakob Disease (vCJD) but sometimes new variant Creutzfeldt-Jakob Disease (nvCJD) ) is distinguished from the classical type by its early onset (usually in the 20s) and a predominance of psychiatric and sensory symptoms. (academickids.com)
- In humans, prion diseases include classic and sporadic Creutzfeldt-Jakob disease (CJD) among other syndromes. (vantrumpreport.com)
- In March 1996, the United Kingdom's Spongiform Encephalopathy Advisory Committee (SEAC) announced the identification of 10 cases of variant Creutzfeldt-Jakob disease (vCJD) in people believed to have contracted it by consuming contaminated beef products. (vantrumpreport.com)
- Creutzfeldt-Jakob Disease (CJD), Kuru and Gerstmann-Strausler-Sheinker syndrome in humans. (majordifferences.com)
- The 14-3-3 protein is a marker for some prion diseases, such as Creutzfeldt-Jakob disease (CJD), when a number of other neurodegenerative conditions are excluded. (case.edu)
- The human forms of prion disease are most often the names Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (FFI), Gertsmann-Straussler-Scheinker syndrome (GSS), kuru and variably protease-sensitive prionopathy (VPSPr). (holidaymountainmusic.com)
- Misfolded prions can act as infectious agents and have been linked to brain diseases such as human Creutzfeldt-Jakob disease and mad cow disease (bovine spongiform encephalopathy). (holidaymountainmusic.com)
- The most common form of prion disease that affects humans is Creutzfeldt-Jakob disease (CJD). (holidaymountainmusic.com)
- Prions are infectious and cause neurodegenerative diseases such as scrapie in animals and Creutzfeldt-Jakob disease in humans. (holidaymountainmusic.com)
- Identified Prion DiseasesCreutzfeldt-Jakob Disease (CJD)Variant Creutzfeldt-Jakob Disease (vCJD)Gerstmann-Straussler-Scheinker Syndrome.Fatal Familial Insomnia.Kuru. (holidaymountainmusic.com)
- FFI is in a class of neurological diseases caused by prions (( Creutzfeldt-Jakob disease and its bovine equivalent, Mad Cow disease are other examples). (goinggentleintothatgoodnight.com)
- To date, the only prion disease that has sporadic incidences is Creutzfeldt-Jakob disease . (goinggentleintothatgoodnight.com)
- FFI, along with Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker Syndrome (GSS) , fall into this type of prion disease. (goinggentleintothatgoodnight.com)
- Our study demonstrated that hyperactivity syndrome is related to hypoconnected default-mode network in Alzheimer's disease. (psychiatryinvestigation.org)
- A recent study examined the relationship between resting functional connectivity and NPS in patients with Alzheimer's disease, and it has shown that functional connectivity between the anterior cingulate cortex and the insula was associated with hyperactivity syndrome including agitation and disinhibition [ 14 ]. (psychiatryinvestigation.org)
- Other diseases - progressive supranuclear palsy, Korsakoff's syndrome, Binswanger's disease, HIV and AIDS, and Creutzfeldt-Jakob disease (CJD). (draggarwal.org)
- Alzheimer's disease is a form of cortical dementia, as is CJD (Creutzfeldt-Jakob disease). (draggarwal.org)
- Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease. (ox.ac.uk)
- To validate the provisional findings of a number of smaller studies and explore additional determinants of characteristic diagnostic investigation results across the entire clinical spectrum of sporadic Creutzfeldt-Jakob disease (CJD), an international collaborative study was undertaken comprising 2451 pathologically confirmed (definite) patients. (ox.ac.uk)
- and variant, familial and sporadic Creutzfeldt Jakob disease (CJD). (mybestmedicine.com)
- Objective To use a robust statistical methodology to develop and validate clinical rating scales quantifying longitudinal motor and cognitive dysfunction in sporadic Creutzfeldt-Jakob disease (sCJD) at the bedside. (bmj.com)
- The median clinical duration from symptom onset in sporadic Creutzfeldt-Jakob disease (sCJD) is 4 months, although disease courses ranging from short weeks to several years are recognised. (bmj.com)
- The most characteristic are frontotemporal degeneration spectrum disorders, but Alzheimer disease and rare disorders such as Creutzfeldt-Jakob disease, CNS Whipple disease, and Niemann-Pick disease type C can be associated with corticobasal syndrome. (medscape.com)
- The human form of Mad Cow is Creutzfeldt-Jakob disease (CJD). (alzheimerdisease.tv)
- Other kinds of dementia include Huntington's disease, Parkinson's disease, and Creutzfeldt-Jakob disease. (thehealthfact.com)
Variant1
- 1] They defined four clinical phenotypes associated with CBD pathology based on these data: (1) Corticobasal syndrome, (2) Frontal behavioral-spatial syndrome (FBS), (3) Nonfluent/agrammatic variant of primary progressive aphasia (naPPA), and (4) Progressive supranuclear palsy syndrome (PSPS). (medscape.com)
Gerstmann-Straussl1
- These inherited forms include Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. (cdc.gov)
Parkinson's1
- Both symptoms are diagnostic of Alzheimer's, and similar ones characterize other neurological syndromes such as Parkinson's and Creutzfeldt-Jakob's. (rationaloptimist.com)
Dementia2
- Dementia is a non-specific syndrome in which affected areas of brain function may be affected, such as memory, language, problem solving and attention. (draggarwal.org)
- The most common phenotype-corticobasal syndrome (CBS)-is defined by progressive dementia and typically asymmetric parkinsonism unresponsive to dopaminergic therapy, dystonia, limb apraxia, and myoclonus, but these may occur as a result of a number of other pathologic entities. (medscape.com)
Psychosis1
- seed radius=3 mm) for the posterior DMN We then correlated the scores on neuropsychiatric inventory syndromes (apathy, hyperactivity, affective, and psychosis syndrome) with maps of connectivity in the default-mode network. (psychiatryinvestigation.org)
Increase susceptibility1
- Researchers have identified several genetic variations that may increase susceptibility to Korsakoff syndrome. (alz.org)
Life Sciences1
- 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)
Brain2
Clinical3
- Korsakoff syndrome is a clinical diagnosis representing a physician's best judgment about the cause of a person's symptoms. (alz.org)
- CBD can also present clinically as progressve supranuclear palsy (there is significant clinical and some neuropathological overlap between these entities), a frontal behavioral-spatial syndrome, primary progressive aphasia[1] , or (rarely) as posterior cortical atrophy. (medscape.com)
- criteria lies in formally defining the clinical syndromes associated with CBD pathology. (medscape.com)
Diseases2
- Researchers have found that MAMs are closely related to metabolic syndrome and neurodegenerative diseases (NDs). (bvsalud.org)
- Here we show that such fibrils also occur in Creutzfeldt-Jakob and Gerstmann-Sträussler-Scheinker diseases, where they form protease-K-resistant deposits and co-localize with amyloid plaques formed from prion protein. (mdc-berlin.de)
Diagnosis1
- The diagnosis of syndromes associated with CBD pathology is based on history and physical examination, while imaging, serum, and cerebrospinal fluid studies serve an ancillary role. (medscape.com)
Symptoms1
- The syndrome may sometimes be hard to identify because it may be masked by symptoms of other conditions common among those who misuse alcohol, including intoxication or withdrawal, infection, or head injury . (alz.org)
Pathology1
- In reticulum pathology, hematopoietic as Creutzfeldt-Jakob base, reactions of PrP syndrome are characterised temporally in the corneal and Functional structure. (familie-vos.de)
Cognitive1
- Korsakoff syndrome and its associated thiamine deficiency is not the only mechanism through which heavy drinking may contribute to chronic thinking changes and cognitive decline. (alz.org)
AIDS1
- Korsakoff syndrome is most commonly caused by alcohol misuse, but can also be associated with AIDS, cancers that have spread throughout the body, chronic infections, poor nutrition and certain other conditions. (alz.org)
Chronic2
- Korsakoff syndrome is a chronic memory disorder caused by severe deficiency of thiamine (vitamin B-1). (alz.org)
- Because the chronic memory loss of Korsakoff syndrome often follows an episode of Wernicke encephalopathy, the chronic disorder is sometimes known as Wernicke-Korsakoff syndrome. (alz.org)
Term1
- Korsakoff syndrome causes problems learning new information, inability to remember recent events and long-term memory gaps. (alz.org)
Sporadic12
- Prodynorphin and Proenkephalin in Cerebrospinal Fluid of Sporadic Creutzfeldt-Jakob Disease. (nih.gov)
- and variant, familial and sporadic Creutzfeldt Jakob disease (CJD). (nih.gov)
- Clinical features seen in patients with sporadic Creutzfeldt-Jakob disease (sCJD) may be diverse symptoms. (e-jnic.org)
- Sporadic, familial, iatrogenic and variant, of which sporadic Creutzfeldt-Jakob disease (sCJD) is the most common, and sCJD has characteristic clinical and diagnostic features 2 - 4 ). (e-jnic.org)
- Sporadic Creutzfeldt-Jakob disease, like other prion diseases, is classified as a transmissible spongiform encephalopathy and occurs as a sporadic disease without a recognizable transmission pattern in approximately 85% of patients 6 ). (e-jnic.org)
- To date, the only prion disease that has sporadic incidences is Creutzfeldt-Jakob disease . (goinggentleintothatgoodnight.com)
- International differences in pathological confirmation of sporadic Creutzfeldt-Jakob disease, stable over time, were evident. (ox.ac.uk)
- The conversion is induced by prion infections (for example, variant Creutzfeldt-Jakob disease (vCJD), iatrogenic CJD, Kuru), mutations (familial CJD, Gerstmann-Straussler-Scheinker syndrome, fatal familial insomnia (FFI)) or unknown factors (sporadic CJD (sCJD)), and is thought to occur after PrPC has reached the plasma membrane or is re-internalized for degradation. (kegg.jp)
- BACKGROUND: Cerebrospinal fluid (CSF) Real Time-Quaking Induced Conversion (RT-QuIC) has a high degree of sensitivity and specificity for the diagnosis of sporadic Creutzfeldt-Jakob Disease (sCJD) and this has led to it being included in revised European CJD Surveillance network diagnostic criteria for sCJD. (docwirenews.com)
- Finally, the third type of prion disease is Sporadic Creutzfeldt-Jakob (CJD) . (protem.ca)
- Sporadic Creutzfeldt-Jakob disease is also known as classic CJD, and is found in about 1-2 people per million around the world. (protem.ca)
- In the sporadic cases (sporadic Creutzfeld-Jakob disease, sCJD), PrP-containing plaques are infrequent, whereas in transmitted (variant CJD) and inherited (Gerstmann-Straussler-Scheinker Syndrome) cases, plaques are a usual feature. (cmich.edu)
GERSTMANN-STRAUSSL1
- It should not be confused with Gerstmann-Straussler syndrome, which is a transmissible spongiform encephalopathy. (the-medical-dictionary.com)
Humans2
- Prion diseases include Creutzfeldt-Jakob, a rare and fatal disease in humans, as well as mad cow disease in cattle and chronic wasting disease, which affects deer, elk, moose and reindeer. (ctvnews.ca)
- Transmissible spongiform encephalopathies (TSEs) such as bovine spongiform encephalopathy (BSE) in cattle and Creutzfeldt-Jakob disease (CJD) in humans are supposed to be caused by the scrapie form of prion protein (PrP^sup Sc^), the abnormal, oligomeric form of the cellular prion protein (PrP^sup C^) of the host. (the-medical-dictionary.com)
Iatrogenic3
- We previously reported a phenotype of Creutzfeldt-Jakob disease (CJD), CJD-MMiK, that could help identify iatrogenic CJD. (cdc.gov)
- Iatrogenic Creutzfeldt-Jakob disease, final assessment. (cdc.gov)
- This study estimated the overall incidence of iatrogenic Creutzfeldt-Jakob disease (iCJD) based on dura graft cases in Korea using a mathematical model. (parasitol.or.kr)
Familial3
- More than 30 mutations in the PRNP gene have been identified in people with familial forms of prion disease, including Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI). (nih.gov)
- These inherited forms include Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. (cdc.gov)
- Here we have investigated the stability and Cu(II) binding properties of three recombinant variants of murine full-length PrP(23-231)-containing destabilizing point mutations that are associated with human Gerstmann-Straussler-Scheinker disease (F198S), Creutzfeld-Jakob disease (E200K), and fatal familial insomnia (D178N) by electron paramagnetic resonance and circular dichroism spectroscopy. (the-medical-dictionary.com)
Caused by prions1
- FFI is in a class of neurological diseases caused by prions (( Creutzfeldt-Jakob disease and its bovine equivalent, Mad Cow disease are other examples). (goinggentleintothatgoodnight.com)
Corticobasal degeneration2
- CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration). (nih.gov)
- Atypical parkinsonian syndromes (multiple systems atrophy, progressive supranuclear palsy, corticobasal degeneration) have other features such as cerebellar degeneration, supranuclear gaze palsy, or asymmetrical limb apraxia. (renalandurologynews.com)
Encephalopathy1
- The symptoms are similar to those of prion diseases, which include Creutzfeldt-Jakob disease and some of its variants, including mad cow disease, or bovine spongiform encephalopathy (BSE). (cbc.ca)
Alzheimer's2
- Our study demonstrated that hyperactivity syndrome is related to hypoconnected default-mode network in Alzheimer's disease. (psychiatryinvestigation.org)
- A recent study examined the relationship between resting functional connectivity and NPS in patients with Alzheimer's disease, and it has shown that functional connectivity between the anterior cingulate cortex and the insula was associated with hyperactivity syndrome including agitation and disinhibition [ 14 ]. (psychiatryinvestigation.org)
Symptoms9
- HN - 2010 FX - Polysomnography MH - Acute Chest Syndrome UI - D056586 MN - C8.381.74 MN - C8.618.09 MN - C15.378.71.141.150.150.219 MN - C15.378.420.155.219 MN - C16.320.70.150.219 MN - C16.320.365.155.219 MS - Respiratory syndrome characterized by the appearance of a new pulmonary infiltrate on chest x-ray, accompanied by symptoms of fever, cough, chest pain, tachypnea, or DYSPNEA, often seen in patients with SICKLE CELL ANEMIA. (nih.gov)
- What are the symptoms of Cushing's syndrome? (nih.gov)
- Signs and symptoms of Cushing's syndrome vary. (nih.gov)
- Not everyone with Cushing's syndrome has these symptoms, which can make it hard to detect. (nih.gov)
- The disease has symptoms similar to those of the rare and fatal Creutzfeldt-Jakob disease, but 'testing so far has ruled out known prion diseases,' the memo stated. (cbc.ca)
- CASE PRESENTATION: We present the case of a 34-year-old Asian female who tested positive for severe acute respiratory syndrome coronavirus 2 infection using a nasopharyngeal swab sample and presented with acute changes in consciousness without typical respiratory symptoms. (bvsalud.org)
- Manifestation of symptoms depends on the infecting species and mode of acquisition, and can range from gastrointestinal syndromes to septicemia. (nih.gov)
- ProTem -Moncton NB- shares symptoms of creutzfeldt-jakob disease. (protem.ca)
- Parkinsonian syndromes are a group of movement disorders characterized by classical motor symptoms such as tremors, bradykinesia, and rigidity. (enwik.org)
Encephalitis1
- Altered consciousness due to severe acute respiratory syndrome coronavirus 2 encephalitis is a very threatening condition if not treated immediately. (bvsalud.org)
Alfons Maria1
- It was named after two German psychiatrists, Hans Gerhard Creutzfeldt and Alfons Maria Jakob. (brighamandwomens.org)
Prions2
- Some of these samples were contaminated with prions that caused certain patients to develop Creutzfeldt-Jakob disease (CJD), a rare and fatal brain disorder . (kindness2.com)
- Creutzfeldt-Jakob disease (CJD) is a neurodegenerative condition that is caused by misfolded protein particles ( prions ). (amboss.com)
Neurological6
- HALIFAX -- Two experts in brain diseases say there are many unanswered questions about a possible degenerative neurological syndrome recently disclosed by New Brunswick health officials. (ctvnews.ca)
- It doesn't mean for certain that there is a progressive neurological syndrome on the loose. (ctvnews.ca)
- In a March 5 memo to organizations representing New Brunswick's doctors, nurses and pharmacists, deputy chief medical officer of health Dr. Cristin Muecke said her office is investigating a cluster of cases of 'a progressive neurological syndrome of unknown etiology,' or origin. (ctvnews.ca)
- Progressive, unexplained neurological syndromes do happen in all parts of the country and the world, simply because we do not know everything,' Sim said. (ctvnews.ca)
- In an internal memo obtained by Radio-Canada, sent on March 5 by the office of the chief medical officer of health to the New Brunswick Medical Society and to associations of doctors and nurses, the department highlighted a cluster of 42 cases of a progressive neurological syndrome of unknown origin. (cbc.ca)
- Within days, he developed evidence of a progressive ascending neurological syndrome and subsequent brain involvement with supranuclear palsy of upgaze, catalepsy and death 36 days after symptom onset. (edu.au)
Prion protein2
- Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, invariably fatal neurodegenerative disorder believed to be caused by an abnormal isoform of a cellular glycoprotein known as the prion protein. (cdc.gov)
- Introduction Creutzfeldt-Jakob disease (CJD) is an ultimately fatal, neurodegenerative disease caused by misfolded prion protein aggregation and accumulation. (edu.au)
Type of prion1
- FFI, along with Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker Syndrome (GSS) , fall into this type of prion disease. (goinggentleintothatgoodnight.com)
Pathological1
- Although syndrome names and definitions were different, the proteome and presumed pathological mechanism(s) may be shared. (biomedcentral.com)
Disorder2
- Cushing's syndrome is a disorder that occurs when your body makes too much of the hormone cortisol over a long period of time. (nih.gov)
- Asperger syndrome ( AS ), also known as Asperger's , is a developmental disorder characterized by significant difficulties in social interaction and nonverbal communication , along with restricted and repetitive patterns of behavior and interests. (mdwiki.org)
Parkinson1
- Uniquely, we also guarantee to pay out if they're diagnosed with incurable stage 4 cancer, motor neurone disease, Creutzfeldt-Jakob disease or Parkinson-plus syndromes even if they're expected to survive more than 12 months. (guardian1821.co.uk)
19211
- Initially described in 1921, Creutzfeldt-Jakob disease (CJD) is a rare, transmissible prion disease 1 ). (e-jnic.org)
Poliomyelitis1
- These include motoneuron disease,spinal muscular atrophy, Creutzfeldt-Jakob disease, poliomyelitis and polio-like syndrome, syringomyelia, multiple sclerosis, and other myelopathies.Electrophysiologic studies help characterize these disease entities and localize the lesion site. (oxfordmedicine.com)
Similarities2
- The cases have 'many similarities to Creutzfeldt-Jakob disease,' she said, but testing has so far ruled out known prion diseases. (ctvnews.ca)
- However, despite many similarities, tests for Creutzfeldt-Jakob disease have so far ruled out known prion diseases, the March 5 public health memo states. (cbc.ca)
Cerebrospinal1
- Empiric therapy was immediately and simultaneously given with cerebrospinal fluid analysis using polymerase chain reaction, which later also showed positive results for severe acute respiratory syndrome coronavirus 2 infection. (bvsalud.org)
Apraxia1
- HN - 2010 MH - Alien Hand Syndrome UI - D055964 MN - C10.597.606.881.350.99 MN - C23.888.592.604.80.500 MN - C23.888.592.604.882.350.99 MN - F1.700.80.249 MN - F1.700.875.350.99 MS - An apraxia characterized by the affected limb having involuntary, autonomous, and purposeful behaviors that are perceived as being controlled by an external force. (nih.gov)
Progressive1
- Creutzfeldt-Jakob disease (CJD) is usually more rapidly progressive. (renalandurologynews.com)
Autoimmune1
- The Guillain-Barré syndrome (GBS) is an acute, frequently severe evolution of a demyelinating inflammatory polyradiculopathy with an autoimmune pathogenesis. (annals.edu.sg)
Infectious agents2
- The product is made from human plasma and may contain infectious agents, e.g. viruses and, theoretically, the Creutzfeldt-Jakob disease agent ( 5.3 ). (nih.gov)
- Products made from human plasma may contain infectious agents, such as viruses and theoretically, the Creutzfeldt-Jakob disease (CJD) agent that can cause disease. (hypermunes.com)
Infection2
- Multiple factors (e.g., infection, and pulmonary FAT EMBOLISM) may contribute to the development of the syndrome. (nih.gov)
- This chapter provides recommendations for infection control procedures to minimise the risk of transmission of classical Creutzfeldt-Jakob disease (CJD) in health care settings. (alcohol.gov.au)