{"orpha":98762,"name":"Spinocerebellar ataxia type 12","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA12"],"definition":"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98762/","orphanet_url":"https://www.orpha.net/en/disease/detail/98762","names":{"fr":{"name":"Ataxie spinocérébelleuse type 12","synonyms":["SCA12"],"definition":"L'ataxie spinocérébelleuse (ASC) de type 12 est une forme très rare d'ataxie cérébelleuse autosomique dominante (ACAD) de type I caractérisée par un tremblement d'action associé à une ataxie cérébelleuse relativement discrète. Des signes pyramidaux et extrapyramidaux associés et une démence ont été décrits."},"de":{"name":"Ataxie, spinozerebelläre, Typ 12","synonyms":["SCA12"],"definition":"Die Spinozerebelläre Ataxie Typ 12 (SCA12) ist ein sehr seltener Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch Intentionstremor mit relativ milder zerebellärer Ataxie. Berichtet wurde auch über begleitende pyramidale und extrapyramidale Zeichen und Demenz."},"es":{"name":"Ataxia espinocerebelosa tipo 12","synonyms":["SCA12"],"definition":"La ataxia espinocerebelosa tipo 12 es un subtipo muy poco común de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I). Se caracteriza por la presencia de temblores de acción asociados con ataxia cerebelosa relativamente leve. Se han descrito signos piramidales y extrapiramidales asociados."},"it":{"name":"Atassia spinocerebellare, tipo 12","synonyms":["SCA12"],"definition":"L'atassia spinocerebellare tipo 12 (SCA12) è un sottotipo molto raro dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine). È caratterizzata dalla presenza di tremore d'azione associato ad atassia cerebellare relativamente lieve. Sono stati descritti segni extrapiramidali e piramidali correlati e demenza."},"nl":{"name":"Spinocerebellaire ataxie type 12","synonyms":["SCA12"],"definition":"Spinocerebellaire ataxie type 12 (SCA12) is een zeer zeldzaam subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term), gekarakteriseerd door de aanwezigheid van actietremor gekoppeld aan relatief lichte cerebellaire ataxie. Geassocieerde piramidale en extrapiramidale verschijnselen en dementie zijn ook beschreven."},"pt":{"name":"Ataxia espinocerebelosa tipo 12","synonyms":["SCA12"],"definition":"A ataxia espinocerebelosa tipo 12 (SCA12) é um subtipo raro de ataxia cerebelosa autossómica dominante do tipo I (ADCA tipo I; ver este termo). É caracterizada pela presença de tremor de ação associado a ataxia cerebelosa relativamente ligeira. Foram também descritos sinais piramidais, extrapiramidais e demência."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 12","synonyms":["SCA12"]},"cs":{"name":"Spinocerebelární ataxie, typ 12","synonyms":["SCA12"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 12","synonyms":["SCA12"],"definition":"Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported."},"zh":{"name":"脊髓小脑共济失调12型","synonyms":["SCA12"],"definition":"脊髓小脑共济失调12型(SCA12)是I型常染色体显性遗传性小脑共济失调(ADCAI型，见本术语)的一种非常罕见的亚型。其特点是伴有相对轻度的小脑共济失调的动作性震颤，相关的锥体和锥体外系体征以及痴呆症也有报道。"},"tr":{"name":"Spinoserebellar ataksi tip 12","synonyms":["SCA12"]}},"xrefs":[{"source":"OMIM","code":"604326","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1210063722"},{"source":"MONDO","code":"0011439","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565790","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858501","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10476","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94145,"name":"Autosomal dominant cerebellar ataxia type I","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PPP2R2B","name":"protein phosphatase 2 regulatory subunit Bbeta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9305","ensembl":"ENSG00000156475","omim":"604325","loci":["5q32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"20301381[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-11","source":"20301381[PMID]","terms":[{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002406","label":"Limb dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030188","label":"Tremor by anatomical site","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Occasional (29-5%)","criteria":null}]}}