{"title":"脊髓小脑共济失调-6与睡眠行为障碍相关。","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":"{\"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}","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}
Spinocerebellar Ataxia-6 Associated with Sleep Behavior Disorder.
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.
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