{"title":"一名因正常范围 CAG 重复序列新扩增而导致脊髓灰质炎 6 型的患者","authors":"Da Eun Jung, C. Lyoo","doi":"10.17340/jkna.2023.0105","DOIUrl":null,"url":null,"abstract":"Spinocerebellar ataxia type 6 (SCA6) is classified as a CAG repeat disorder, where the number of expanded CAG repeats often undergoes meiotic instability, when transmitted from one generation to the next. However, in SCA6, both normal and expanded CAG repeats tend to remain stable during transmission due to its relatively small repeat numbers. We herein report de-novo expansion of CAG repeats in SCA6 gene in a 41-year-old female patient, whose parents had normal repeat numbers.","PeriodicalId":437080,"journal":{"name":"Journal of the Korean Neurological Association","volume":"16 5","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Spinocerebellar Ataxia Type 6 Patient Caused by De Novo Expansion of Normal Range CAG Repeats\",\"authors\":\"Da Eun Jung, C. Lyoo\",\"doi\":\"10.17340/jkna.2023.0105\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Spinocerebellar ataxia type 6 (SCA6) is classified as a CAG repeat disorder, where the number of expanded CAG repeats often undergoes meiotic instability, when transmitted from one generation to the next. However, in SCA6, both normal and expanded CAG repeats tend to remain stable during transmission due to its relatively small repeat numbers. We herein report de-novo expansion of CAG repeats in SCA6 gene in a 41-year-old female patient, whose parents had normal repeat numbers.\",\"PeriodicalId\":437080,\"journal\":{\"name\":\"Journal of the Korean Neurological Association\",\"volume\":\"16 5\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of the Korean Neurological Association\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.17340/jkna.2023.0105\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the Korean Neurological Association","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17340/jkna.2023.0105","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A Spinocerebellar Ataxia Type 6 Patient Caused by De Novo Expansion of Normal Range CAG Repeats
Spinocerebellar ataxia type 6 (SCA6) is classified as a CAG repeat disorder, where the number of expanded CAG repeats often undergoes meiotic instability, when transmitted from one generation to the next. However, in SCA6, both normal and expanded CAG repeats tend to remain stable during transmission due to its relatively small repeat numbers. We herein report de-novo expansion of CAG repeats in SCA6 gene in a 41-year-old female patient, whose parents had normal repeat numbers.
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