Journal of the Korean neurological association (대한신경과학회지)

Korean Neurological Association (대한신경과학회)
권호 표지

A Case of Familial Spinocerebellar Ataxia Type 8

제8형 가족성척수소뇌성실조증 1예

Lee, Sang-Hyeon;Ki, Chang-Seok;Cho, Hyung-In;Lee, Pyung-Won;Kim, Jong-Won;Lee, Won-Yong
이상현;기창석;조형인;이평원;김종원;이원용

  • Published : 20041200
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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.

Keywords

References

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