Rahul Jain, Pankaj Rathi, Hashash Singh Ishar, K. Telang, D. Chouksey, A. Sodani
{"title":"Spinocerebellar Ataxia 17: A clinical Rubik’s cube","authors":"Rahul Jain, Pankaj Rathi, Hashash Singh Ishar, K. Telang, D. Chouksey, A. Sodani","doi":"10.21694/2639-3069.20002","DOIUrl":"https://doi.org/10.21694/2639-3069.20002","url":null,"abstract":"Spinocerebellar ataxia 17 (SCA 17) has been recognized as one of the most heterogeneous forms of autosomal dominant cerebellar ataxia (ADCA), with a wide clinical spectrum at presentation. SCA17 presenting as Huntington disease like-4 (HDL-4) phenotype has been observed only sporadically or in solitary individuals within a family. We report the case of a young Indian male who presented with juvenile Parkinsonism (HDL like phenotype) features without family history subsequently diagnosed as SCA17.","PeriodicalId":222040,"journal":{"name":"American Research Journal of Clinical Case Reports","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129187937","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}