{"orpha":454742,"name":"Variably protease-sensitive prionopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare human prion disease characterized by accumulation of abnormal prion protein markedly less protease-resistant than in other prion diseases, depending on the genotype at codon 129 of the prion protein gene. No mutations are found in the coding sequence of the gene. Neuropathological analysis shows spongiform change and prion protein deposition with microplaques in the cerebellum. Patients present with slowly progressive cognitive and motor decline, psychiatric symptoms, ataxia, myoclonus, or tremor, among others. The disease is fatal and transmissible to other individuals.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-454742/","orphanet_url":"https://www.orpha.net/en/disease/detail/454742","names":{"fr":{"name":"Prionopathie de sensibilité variable aux protéases","definition":"Maladie humaine rare à prion caractérisée par l'accumulation d'une protéine prion anormale nettement moins résistante aux protéases que dans les autres maladies à prion, en fonction du génotype au niveau du codon 129 du gène de la protéine prion. Aucune mutation n'est retrouvée dans la séquence codante du gène. L'analyse neuropathologique montre un changement spongiforme et un dépôt de protéine prion avec des microplaques dans le cervelet. Les patients manifestent, entre autres, un déclin cognitif et moteur lentement progressif, des signes cliniques psychiatriques, une ataxie, une myoclonie ou des tremblements. La maladie est létale et transmissible à d'autres individus."},"de":{"name":"Variable Protease-sensitive Prionopathie","definition":"Eine Prionenkrankheit des Menschen, die durch die Anhäufung eines abnormen Prionproteins gekennzeichnet ist, das je nach Genotyp am Codon 129 des Prionproteingens deutlich weniger proteaseresistent ist als bei anderen Prionenkrankheiten. In der kodierenden Sequenz des Gens werden keine Mutationen gefunden. Die neuropathologische Analyse zeigt spongiforme Veränderungen und Prionproteinablagerungen mit Mikroplaques im Kleinhirn. Die Patienten zeigen u. a. einen langsam fortschreitenden kognitiven und motorischen Verfall, psychiatrische Symptome, Ataxie, Myoklonus oder Tremor. Die Krankheit ist tödlich und auf andere Personen übertragbar."},"es":{"name":"Prionopatía variable sensible a proteasas","definition":"Es una enfermedad priónica humana poco frecuente caracterizada por el acúmulo de una proteína priónica anómala notablemente menos resistente a las proteasas que en otras enfermedades priónicas, dependiendo del genotipo en el codón 129 del gen de la proteína priónica. No se han encontrado mutaciones en la secuencia codificante del gen. El análisis neuropatológico muestra cambios espongiformes y depósitos de proteína priónica con microplacas en el cerebelo. Los pacientes se presentan con deterioro cognitivo y motor lentamente progresivos, síntomas psiquiátricos, ataxia, mioclonías o temblores, entre otros. La enfermedad es letal y transmisible a otros individuos."},"it":{"name":"Prionopatia variabilmente sensibile alla proteasi","definition":"Si tratta di una malattia umana rara da prioni, caratterizzata dall'accumulo di una proteina prionica anomala molto meno resistente alla proteasi rispetto ad altre malattie da prioni, che dipende dal genotipo del codone 129 del gene della proteina prionica. Nella sequenza di codifica del gene non sono presenti mutazioni. L'esame neuropatologico evidenzia un'alterazione spongiforme e un deposito di proteina prionica con microplacche nel cervelletto. I pazienti presentano declino cognitivo e motorio a progressione lenta, sintomi psichiatrici, atassia, mioclono o tremori. La malattia è letale e trasmissibile ad altri soggetti."},"nl":{"name":"Variabel proteasesensitieve prionopathie","definition":"Een zeldzame, humane prionziekte, gekarakteriseerd door accumulatie van abnormaal prionproteïne dat opvallend minder resistent is tegen protease dan bij andere prionziekten, afhankelijk van het genotype ter hoogte van codon 129 van het gen voor dit prionproteïne. Er werden geen mutaties aangetroffen in de coderende sequentie van het gen. Neuropathologische analyse toont spongiforme verandering en afzetting van prionproteïne met microplaques in cerebellum. Patiënten presenteren zich met onder meer traag progressieve cognitieve en motorische functiestoornissen, psychiatrische symptomen, ataxie, myoclonus, of tremor. De ziekte is fataal en overdraagbaar naar andere individuen."},"pt":{"name":"Prionopatia sensível a protease, variável"},"pl":{"name":"Prionopatia ze zmienną wrażliwością na proteazę"},"cs":{"name":"Variabilní prionopatie senzitivní na proteázu"},"uk":{"name":"Варіабельна протеазочутлива пріонопатія","definition":"A rare human prion disease characterized by accumulation of abnormal prion protein markedly less protease-resistant than in other prion diseases, depending on the genotype at codon 129 of the prion protein gene. No mutations are found in the coding sequence of the gene. Neuropathological analysis shows spongiform change and prion protein deposition with microplaques in the cerebellum. Patients present with slowly progressive cognitive and motor decline, psychiatric symptoms, ataxia, myoclonus, or tremor, among others. The disease is fatal and transmissible to other individuals."},"zh":{"name":"多种蛋白酶敏感性疾病","definition":"一种罕见的人类朊病毒病，其特征在于异常朊病毒蛋白的积累，其蛋白酶抵抗力明显低于其他朊病毒疾病，具体取决于朊病毒蛋白基因第129位密码子的基因型。在基因的编码序列中未发现突变。神经病理学分析显示小脑海绵样改变和朊病毒蛋白沉积并伴有微斑。患者表现出缓慢进行性认知和运动能力下降，精神症状，共济失调，肌阵挛或震颤等。该病是致命的，可传染给其他人。"},"tr":{"name":"Değişken proteaz duyarlı prionopati"}},"xrefs":[{"source":"ICD-10","code":"A81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8E03","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"172957869"},{"source":"MONDO","code":"0018692","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303527","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":306695,"name":"Miscellaneous movement disorder due to neurodegenerative disease","classifications":[181]},{"orpha":576356,"name":"Sporadic human prion disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}