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J Korean Neurol Assoc. 2004;22(6):659-662.
- A Case of Familial Spinocerebellar Ataxia Type 8
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Sang Hyeon Lee
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Department of Neurology and Laboratory Medicine*, Samsung Medical Center,
Sungkyunkwan University School of Medicine, Seoul, Korea
- 제8형 가족성척수소뇌성실조증 1예
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이상현, 기창석* 조형인 이평원 김종원* 이원용
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성균관대학교 의과대학 삼성서울병원 신경과학교실, 진단검사의학교실
- Abstract
- Spinocerebellar ataxia type 8 (SCA8), originally described in a family characterized by pure cerebellar ataxia, is caused by the expansion of combined CTA/CTG repeats on chromosome 13q21. We experienced a 26-year-old man who presented with a 10-years history of slowly progressive gait ataxia, dysarthria and blepharospasm. We performed genetic studies for SCA1, 2, 3, 6, 7 and 8, and detected CTA/CTG repeat expansion in the SCA8 gene. We now report the first Korean familial case of SCA8 confirmed by genetic study.Key Words: Spinocerebellar ataxia type 8, CTG repeat, Blepharospasm
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