A Case of Familial Spinocerebellar Ataxia Type 8.
- Author:
Sang Hyeon LEE
1
;
Chang Seok KI
;
Hyung In CHO
;
Pyung Won LEE
;
Jong Won KIM
;
Won Yong LEE
Author Information
1. Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. wylee@smc.samsung.co.kr
- Publication Type:Case Report
- Keywords:
Spinocerebellar ataxia type 8;
CTG repeat;
Blepharospasm
- MeSH:
Adult;
Blepharospasm;
Cerebellar Ataxia;
Dysarthria;
Gait Ataxia;
Humans;
Spinocerebellar Ataxias*
- From:Journal of the Korean Neurological Association
2004;22(6):659-662
- CountryRepublic of Korea
- Language:Korean
-
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.
