{"orpha":454745,"name":"Kuru","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare acquired human prion disease characterized by rapidly progressive, fatal neurodegeneration, caused by the consumption of prion-containing tissue in endocannibalistic funeral rituals in Papua New Guinea until the late 1950s. After a decades-long asymptomatic period and a non-specific prodromal phase with headaches and arthralgia, the most prominent neurological feature is ataxia, in addition to other symptoms involving the cerebellum, brain stem, mid-brain, hypothalamus, and cerebral cortex, and emotional changes including inappropriate euphoria and compulsive laughter, or depression and apprehension. There have been no further description in the literature since 2004.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-454745/","orphanet_url":"https://www.orpha.net/en/disease/detail/454745","names":{"fr":{"name":"Kuru","definition":"Maladie rare à prion humaine acquise caractérisée par une neurodégénérescence rapidement progressive, engageant le pronostic vital, causée par la consommation de tissus contenant des prions, lors de rituels funéraires endocannibales en Papouasie-Nouvelle-Guinée pratiqués jusqu'à la fin des années 1950. Après une période asymptomatique de plusieurs décennies et une phase prodromique non spécifique avec céphalées et arthralgie, la caractéristique neurologique la plus importante est l'ataxie, en plus d'autres symptômes dus aux atteintes du cervelet, du tronc cérébral, du cerveau moyen, de l'hypothalamus et du cortex cérébral, et un état émotionnel qui oscille entre une euphorie inexpliquée et une crise de rire incontrôlée et une dépression et une appréhension. Le dernier cas de décès rapporté date de 2005, avec une période d'incubation durant quatre décennies."},"de":{"name":"Kuru","definition":"Eine seltene erworbene Prionenerkrankung des Menschen, die durch eine rasch fortschreitende, tödliche Neurodegeneration gekennzeichnet ist und durch den Verzehr von prionenhaltigem Gewebe bei endokannibalistischen Bestattungsritualen in Papua-Neuguinea bis in die späten 1950er Jahre verursacht wurde. Nach einer jahrzehntelangen asymptomatischen Periode und einer unspezifischen Prodromalphase mit Kopfschmerzen und Arthralgien ist das auffälligste neurologische Merkmal die Ataxie, zusätzlich zu anderen Symptomen, die das Kleinhirn, den Hirnstamm, das Mittelhirn, den Hypothalamus und die Großhirnrinde betreffen, sowie emotionale Veränderungen, einschließlich unangemessener Euphorie und zwanghaftem Lachen oder Depression und Besorgnis. Seit 2004 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Kuru","definition":"Es una enfermedad priónica humana adquirida poco frecuente caracterizada por una neurodegeneración mortal rápidamente progresiva, causada por el consumo de carne que contiene priones en los rituales funerarios endocaníbales en Papúa Nueva Guinea hasta finales de la década de 1950. Después de un período asintomático de décadas y una fase prodrómica inespecífica que se manifiesta con cefalea y artralgia, la característica neurológica más prominente es la ataxia, además de otros síntomas que afectan al cerebelo, al tronco encefálico, al mesencéfalo, al hipotálamo y a la corteza cerebral, así como cambios emocionales que incluyen euforia inapropiada y risa compulsiva, o depresión y aprensión. No ha habido nuevos casos descritos en la literatura desde 2004."},"it":{"name":"Kuru","definition":"Si tratta di una malattia rara umana acquisita da prioni, caratterizzata da una degenerazione neurologica letale a progressione rapida, causata dal consumo di tessuti contenenti prioni nei rituali funerari endocannibalistici praticati in Papua Nuova Guinea fino alla fine degli anni '50. Dopo un periodo asintomatico che dura decenni e una fase prodromica aspecifica caratterizzata da cefalea e artralgia, il principale sintomo neurologico è l'atassia, associata ad antri sintomi a carico del cervelletto, del tronco encefalico, del mesencefalo, dell'ipotalamo e della corteccia cerebrale. Si associa ad alterazioni emotive, tra le quali l'euforia inadeguata e le risate compulsive, oppure la depressione e lo stato di apprensione. L'ultimo paziente descritto è deceduto nel 2005 dopo un periodo di incubazione durato oltre quattro decenni."},"nl":{"name":"Kuru","synonyms":["Koeroe"],"definition":"Een zeldzame verworven humane prionziekte, gekenmerkt door snel progressieve, fatale neurodegeneratie, veroorzaakt door consumptie van weefsel dat prionen bevat tijdens endokannibalistische begrafenisrituelen in Papoea-Nieuw-Guinea tot het einde van de jaren 1950. Na een decennialange asymptomatische periode en een aspecifieke prodromale fase met hoofdpijn en artralgie, is ataxie het meest prominente neurologische kenmerk, bovenop andere symptomen met betrokkenheid van cerebellum, hersenstam, middenhersenen, hypothalamus, en hersenschors, en emotionele veranderingen waaronder ongepaste euforie en dwanglachen, of depressie en ongerustheid. Sinds 2004 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Kuru"},"pl":{"name":"Kuru"},"cs":{"name":"Kuru"},"uk":{"name":"Куру","definition":"A rare acquired human prion disease characterized by rapidly progressive, fatal neurodegeneration, caused by the consumption of prion-containing tissue in endocannibalistic funeral rituals in Papua New Guinea until the late 1950s. After a decades-long asymptomatic period and a non-specific prodromal phase with headaches and arthralgia, the most prominent neurological feature is ataxia, in addition to other symptoms involving the cerebellum, brain stem, mid-brain, hypothalamus, and cerebral cortex, and emotional changes including inappropriate euphoria and compulsive laughter, or depression and apprehension. The last reported patient died in 2005 with an incubation period extending over four decades."},"zh":{"name":"库鲁病","definition":"一种罕见的后天性人类朊病毒病，其特征是迅速进展的致命神经变性。其原因是直到20世纪50年代后期，在巴布亚新几内亚的食人族葬礼中进食含有朊病毒的组织。经过数十年的无症状期，头痛和关节痛的非特异性前驱期后，除其他症状涉及小脑、脑干、中脑、下丘脑和大脑皮层外，最突出的神经系统特征是共济失调。情绪变化包括不适当的欣快感和强迫性笑声，或沮丧和忧虑。最后一位报道的患者于2005年死亡，潜伏期超过了四十年。"},"tr":{"name":"Kuru"}},"xrefs":[{"source":"OMIM","code":"245300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"A81.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8E01.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"553889510"},{"source":"MONDO","code":"0006825","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007729","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0022802","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7617","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10023497","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":576360,"name":"Acquired human prion disease","classifications":[181]},{"orpha":306695,"name":"Miscellaneous movement disorder due to neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"PRNP","name":"prion protein (Kanno blood group)","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"11120925[PMID]","hgnc":"9449","ensembl":"ENSG00000171867","omim":"176640","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2700.0,"area":"Worldwide","status":"Validated","source":"16798390[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16798390[PMID]"}],"phenotypes":null}