A Case of Familial Spinocerebellar Ataxia Type 8

J Korean Neurol Assoc > Volume 22(6); 2004 > Article

Journal of the Korean Neurological Association 2004;22(6): 659-662.

제8형 가족성척수소뇌성실조증 1예

이상현, 기창석* 조형인 이평원 김종원* 이원용

성균관대학교 의과대학 삼성서울병원 신경과학교실, 진단검사의학교실

A Case of Familial Spinocerebellar Ataxia Type 8

Sang Hyeon Lee

Department of Neurology and Laboratory Medicine*, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

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