{"title":"Spinocerebellar Ataxia-6 Associated with Sleep Behavior Disorder.","authors":"Advait Gitay, Prashant Dubey, Shalesh Rohatgi, Satish Nirhale, Prajwal Rao, Pravin Naphade","doi":"10.59556/japi.72.0631","DOIUrl":null,"url":null,"abstract":"<p><p>Spinocerebellar ataxia (SCA)-1, 2, 3, 6, and 31 are associated with sleep behavior disorder. We had a 66-year-old male who presented with late-onset cerebellar ataxia. Before 2 years, the onset of cerebellar symptoms, he had a history of sleep behavior disorder. He had a strong family history of similar symptoms in his younger sister. Whole exome sequencing of the patient and Sanger sequencing of his sister confirmed the diagnosis of SCA-6.</p>","PeriodicalId":22693,"journal":{"name":"The Journal of the Association of Physicians of India","volume":"72 12","pages":"e62-e64"},"PeriodicalIF":0.0000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Journal of the Association of Physicians of India","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.59556/japi.72.0631","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Spinocerebellar ataxia (SCA)-1, 2, 3, 6, and 31 are associated with sleep behavior disorder. We had a 66-year-old male who presented with late-onset cerebellar ataxia. Before 2 years, the onset of cerebellar symptoms, he had a history of sleep behavior disorder. He had a strong family history of similar symptoms in his younger sister. Whole exome sequencing of the patient and Sanger sequencing of his sister confirmed the diagnosis of SCA-6.