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Clinical aspects of inherited ataxias Hidehiro MIZUSAWA 1 1Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Graduate School of Medical and Dental Sciences Keyword: 脊髄小脳失調症 , spinocerebellar ataxia , SCA , CAGリピート病 , CAG-repeat disease , ポリグルタミン病 , polyglutamine disease , カルシウムチャンネル , Ca2+channel pp.999-1007
Published Date 2000/12/10
DOI https://doi.org/10.11477/mf.1431901215
  • Abstract
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Recent discovery of causative genes brought big advances in clinical aspects of inherited ataxias or spinocerebellar ataxias (SCA). In most SCAs, interestingly, the mutation is CAG repeat expansion in the cording region. The number of CAG repeats is corelated inversely to the age of onset, positively to severity, to variety of clinical manifestation, and to atrophy of the cerebellum and brainstem. In dentatorubral-pallidoluysian atrophy (DRPLA), for example, patients with long repeats start myoclonus epilepsy phenotype before age 20, while those with short repeats show cerebellar ataxia and choreic involuntary movements after age 40.


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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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