Article
[Spinocerebellar ataxia: advances in genetic research and its clinical implication].
[Hokkaido igaku zasshi] The Hokkaido journal of medical science - 1 Jan 1997
Sasaki H
Abstract excerpt
Hereditary spinocerebellar ataxia (SCA) is a cluster of genetically heterogeneous disorders, and was classified based on the mode of inheritance and clinicopathological features. Recent molecular genetic studies determined the locus of responsible mutation in 7 dominant SCAs ¿SCA1, SCA2, Machado-Joseph disease (SCA3), SCA4, SCA5, SCA7, DRPLA¿ and one recessive SCA ¿Friedreich's ataxia (FRDA)¿. Of these disorders,...
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