{"orpha":576370,"name":"Variant Creutzfeldt-Jakob disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Variant MCJ","vCJD"],"definition":"A rare acquired human prion disease characterized by a progressive, invariably fatal neuropsychiatric disorder resulting from transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual. Patients typically present early psychiatric symptoms (such as depression, anxiety, apathy, withdrawal, and delusions), as well as persistent painful sensory symptoms, ataxia, myoclonus, chorea, or dystonia, and dementia. Brain MRI often shows bilateral FLAIR hyperintensities involving the pulvinar thalamic nuclei. Neuropathological examination reveals spongiform change and extensive deposition of abnormal prion protein with florid plaques throughout the cerebrum and cerebellum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-576370/","orphanet_url":"https://www.orpha.net/en/disease/detail/576370","names":{"fr":{"name":"Maladie de Creutzfeldt-Jakob variante","synonyms":["MCJ variante","v-MCJ"],"definition":"Maladie à prion humaine acquise rare caractérisée par un trouble neuropsychiatrique progressif, systématiquement létale, transmise par l'ingestion de produits provenant de vaches atteintes d'une maladie à prions ou par un individu atteint de la maladie lors d'une transfusion sanguine. Les patients présentent généralement des symptômes psychiatriques précoces (dépression, anxiété, apathie, repli sur soi et délires), ainsi que des symptômes sensoriels douloureux persistants, une ataxie, une myoclonie, une chorée ou une dystonie, et une démence. L'IRM cérébrale met souvent en évidence des hypersignaux FLAIR bilatéraux impliquant les noyaux thalamiques pulvinaires. L'examen neuropathologique révèle un changement spongiforme et un dépôt important de protéine prion anormale sous la forme de plaques florides dans l'ensemble du cerveau et du cervelet."},"de":{"name":"Creutzfeldt-Jakob-Krankheit, variante","synonyms":["vCJD","V-MCJ"],"definition":"Eine seltene erworbene Prionkrankheit des Menschen, die durch eine progressive neuropsychiatrische Erkrankung mit ausnahmslos tödlichem Ausgang gekennzeichnet ist und durch den Verzehr von Produkten von mit Prionen infizierten Kühen oder durch Bluttransfusionen einer betroffenen Person übertragen wird. Die Patienten zeigen typischerweise frühe psychiatrische Symptome (wie Depression, Angst, Apathie, Rückzug und Wahnvorstellungen) sowie anhaltende schmerzhafte sensorische Symptome, Ataxie, Myoklonus, Chorea oder Dystonie und Demenz. Die zerebrale MRT zeigt häufig bilaterale FLAIR-Hyperintensitäten mit Beteiligung der pulvinaren Thalamuskerne. Die neuropathologische Untersuchung zeigt spongiforme Veränderungen und eine ausgedehnte Ablagerung abnormaler Prionproteine mit floriden Plaques im gesamten Groß- und Kleinhirn."},"es":{"name":"Variante de la enfermedad de Creutzfeldt-Jakob","synonyms":["vCJD"],"definition":"Es una enfermedad priónica humana, adquirida y poco frecuente, caracterizada por un trastorno neuropsiquiátrico progresivo e invariablemente letal, resultante de la transmisión a través del consumo de productos derivados de vacas afectadas por la enfermedad priónica o mediante la transfusión de sangre de un individuo afecto. Los pacientes suelen presentar síntomas psiquiátricos tempranos (como depresión, ansiedad, apatía, retraimiento y delirios), así como síntomas sensitivos dolorosos persistentes, ataxia, mioclonías, corea o distonía y demencia. La RM cerebral suele mostrar hiperintensidad bilateral del núcleo pulvinar talámico en secuencias FLAIR. El examen neuropatológico revela cambios espongiformes y depósitos extensos de proteína priónica anómala con ''placas floridas'' en el cerebro y el cerebelo."},"it":{"name":"Variante della malattia di Creutzfeldt-Jakob","synonyms":["Variante della MCJ","vCJD"],"definition":"Si tratta di una malattia umana rara acquisita da prioni, caratterizzata da una patologia neuropsichiatrica progressiva, sempre letale, causata dal consumo di prodotti provenienti da mucche affette da una malattia da prioni, o dalla trasfusione di sangue da un soggetto affetto. Di solito i pazienti presentano sintomi psichiatrici precoci (depressione, ansia, apatia, isolamento e allucinazioni), sintomi sensoriali dolorosi persistenti, atassia, mioclonie, corea o distonia, e demenza. La RMN spesso evidenzia iperintensità bilaterali in FLAIR che interessano il nucleo pulvinar del talamo. L'esame neuropatologico evidenzia alterazioni spongiformi e marcati accumuli di proteine prioniche anomale con placche floride nel cervello e nel cervelletto."},"nl":{"name":"Variant van ziekte van Creutzfeldt-Jakob","synonyms":["Variant van CJD","vCJD"],"definition":"Een zeldzame, verworven humane prionziekte, gekenmerkt door een progressieve, altijd fatale neuropsychiatrische aandoening als gevolg van transmissie via consumptie van producten afkomstig van koeien met prionziekte of via bloedtransfusie van een aangetast individu. Patiënten vertonen doorgaans vroege psychiatrische symptomen (zoals depressie, angst, apathie, terugtrekking, en wanen), alsook aanhoudende pijnlijke sensorische symptomen, ataxie, myoclonus, chorea, of dystonie, en dementie. MRI van hersenen toont vaak bilaterale FLAIR-hyperintensiteiten met betrokkenheid van pulvinar-kernen van de thalamus. Neuropathologisch onderzoek toont spongiforme verandering en extensieve depositie van abnormaal prionproteïne met floride plaques over heel de grote en kleine hersenen."},"pt":{"name":"Variante da doença Creutzfeldt-Jakob"},"pl":{"name":"Wariant choroby Creutzfeldta i Jakoba","synonyms":["Variant MCJ","vCJD"]},"cs":{"name":"Variantní Creutzfeldtova-Jakobova nemoc","synonyms":["Variantní Creutzfeldt-Jakobova nemoc"]},"uk":{"name":"Варіант хвороби Крейтцфельдта-Якоба","synonyms":["Варіант MCJ","vCJD"],"definition":"A rare acquired human prion disease characterized by a progressive, invariably fatal neuropsychiatric disorder resulting from transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual. Patients typically present early psychiatric symptoms (such as depression, anxiety, apathy, withdrawal, and delusions), as well as persistent painful sensory symptoms, ataxia, myoclonus, chorea, or dystonia, and dementia. Brain MRI often shows bilateral FLAIR hyperintensities involving the pulvinar thalamic nuclei. Neuropathological examination reveals spongiform change and extensive deposition of abnormal prion protein with florid plaques throughout the cerebrum and cerebellum."},"zh":{"name":"变异型克罗伊茨费尔特-雅各布病","synonyms":["新型MCJ"]},"tr":{"name":"Variant Creutzfeldt-Jakob hastalığı","synonyms":["vCJD","Varyant MCJ"]}},"xrefs":[{"source":"ICD-10","code":"A81.0","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8E01.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"378572696"},{"source":"MONDO","code":"0007012","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0376329","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9550","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064199","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":454700,"name":"Acquired Creutzfeldt-Jakob disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":233.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}