- A Case of Genetically Confirmed Spinocerebellar Ataxia Type 8
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Gyoungim Suh, Won Chan Kim, Myung Sik Lee
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J Mov Disord. 2008;1(2):90-92.
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DOI: https://doi.org/10.14802/jmd.08017
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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.
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