{"orpha":642747,"name":"PUM1-related cerebellar ataxia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adult-onset SCA47","Adult-onset spinocerebellar ataxia type 47"],"definition":"A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-642747/","orphanet_url":"https://www.orpha.net/en/disease/detail/642747","names":{"fr":{"name":"Ataxie cérebelleuse associée à PUM1","synonyms":["Ataxie spinocérébelleuse type 47, forme adulte"],"definition":"Ataxie héréditaire rare caractérisée par l'apparition à l'âge adulte d'une dégénérescence cérébelleuse lentement progressive accompagnée d'une ataxie de la marche, d'une dysmétrie, d'une dysarthrie et, dans certains cas, d'une diplopie. Les fonctions cognitives sont normales et il n'existe pas de crises convulsives. L'imagerie par résonance magnétique révèle une légère atrophie du vermis cérébelleux."},"de":{"name":"Zerebelläre Ataxie, PUM1-assoziierte","synonyms":["Ataxie, spinozerebelläre, Typ 47","SCA47 mit Beginn im Erwachsenenalter"],"definition":"Eine seltene hereditäre Ataxie, die durch eine langsam fortschreitende zerebelläre Degeneration mit Gangataxie, Dysmetrie, Dysarthrie und in einigen Fällen Diplopie gekennzeichnet ist. Die kognitiven Funktionen sind normal und es treten keine Anfälle auf. Die Magnetresonanztomographie zeigt eine leichte Atrophie des Vermis cerebelli."},"es":{"name":"Ataxia cerebelosa asociada a PUM1","synonyms":["Ataxia espinocerebelosa de inicio en el adulto tipo 47","SCA47 de inicio en el adulto"],"definition":"Es una ataxia hereditaria poco frecuente caracterizada por el inicio en la edad adulta de una degeneración cerebelosa lentamente progresiva con ataxia de la marcha, dismetría, disartria y, en algunos casos, diplopía. Las funciones cognitivas son normales y no se manifiesta con crisis epilépticas. La resonancia magnética revela una leve atrofia del vermis cerebeloso."},"it":{"name":"Atassia cerebellare correlata a PUM1","synonyms":["Atassia spinocerebellare tipo 47 ad esordio nell’età adulta","SCA47 ad esordio nell’età adulta"]},"nl":{"name":"PUM1-gerelateerde cerebellaire ataxie","synonyms":["SCA47 beginnend op volwassen leeftijd","Spinocerebellaire ataxie type 47 beginnend op volwassen leeftijd"],"definition":"Een zeldzame hereditaire ataxie, gekenmerkt door in de volwassenheid optredende, traag progressieve cerebellaire degeneratie met gangataxie, dysmetrie, dysartrie, en in sommige gevallen diplopie. Cognitieve functies zijn normaal, en insulten zijn afwezig. Beeldvorming met magnetische resonantie toont milde atrofie van cerebellaire vermis."},"pt":{"name":"Ataxia cerebelosa PUM1-relacionada","synonyms":["Ataxia espinhocerebelosa tipo 47 com início na idade adulta","SCA47 com início na idade adulta"],"definition":"Ataxia hereditária rara caracterizada por degeneração cerebelosa lentamente progressiva de início na idade adulta, com ataxia da marcha, dismetria, disartria e, em alguns casos, diplopia. As funções cognitivas são normais e as convulsões estão ausentes. A ressonância magnética demonstra ligeira atrofia do vermis cerebeloso."},"pl":{"name":"Ataksja móżdżkowa związana z PUM1","synonyms":["Adult-onset SCA47","Adult-onset spinocerebellar ataxia type 47"],"definition":"Rzadka dziedziczna ataksja charakteryzująca się powoli postępującym zwyrodnieniem móżdżku o początku w wieku dorosłym z ataktycznym chodem, dysmetrią, dyzartrią, a w niektórych przypadkach z podwójnym widzeniem. Funkcje poznawcze są prawidłowe, drgawki nie występują. W rezonansie magnetycznym widoczny jest łagodny zanik robaka móżdżku."},"cs":{"name":"Cerebelární ataxie asociovaná s PUM1","synonyms":["Adult-onset SCA47","Adult-onset spinocerebellar ataxia type 47"]},"uk":{"name":"Мозочкова атаксія, повязана з PUM1","synonyms":["SCA47, що починається у дорослих","Спіноцеребеллярна атаксія, що починається в дорослому віці, тип 47"],"definition":"A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis."}},"xrefs":[{"source":"OMIM","code":"617931","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0033482","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816800","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":99,"name":"Autosomal dominant cerebellar ataxia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PUM1","name":"pumilio RNA binding family member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31422002[PMID]","hgnc":"14957","ensembl":"ENSG00000134644","omim":"607204","loci":["1p35.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"United States","status":"Validated","source":"29474920[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"South East Asia","status":"Validated","source":"31422002[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29474920[PMID]_31422002 [PMID]_ORPHANET"}],"phenotypes":null}