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KMID : 1197720080010020090
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대한파킨슨병 및 이상운동질환 학회지
2008 Volume.1 No. 2 p.90 ~ p.92
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A Case of Genetically confirmed Spinocerebellar Ataxia Type 8
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Suh Gyong-Im
Lee Myung-Sik
Kim Won-Chan
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Abstract
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Spinocerebellar ataxia type 8 patients typically have a slowly progressive, adult-onset ataxia. SCA8 is characterized by relatively pure cerebellar ataxia, which is caused by the expansion of combined CTA/CTG repeats on chromosome 13q21. We report a 58 years old woman with slowly progressive dysarthria, and gait ataxia. We performed genetic studies for SCA 1, 2, 3, 6, 7, 8, 17 and detected CTA/CTG repeat expansion in the SCA8 gene. Journal of Movement Disorders 1(2):90-92, 2008
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KEYWORD
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Spinocerebellar ataxia type 8, CTG repeat
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