[Hereditary ataxias-overview].
Many of autosomal dominant spinocerebellar ataxias (SCA) are now shown to result from the expansion of unstable trinucleotide repeats. In most SCAs, these repeats are present within coding sequences of the causative genes and translated into polyglutamine tracts. In this overview clinical and molecular genetic features of newly identified group of diseases in this category are briefly summarized. Expanded polyglutamine repeats are supposed to mediate some toxic effects on a certain population of neurons that result in neuronal dysfunction. The current progress in these molecular biological studies on their pathophysiology is also reviewed. In Japan, Friedreich ataxia with intoronic GAA repeat expansions has not been known. Instead, early onset ataxia with Friedreich phenotype, associated with ocular motor apraxia in childhood and with hypoalbuminemia in adult, is the predominant ataxia with Friedreich phenotype, the causative mutation of which was very recently identified.
Nishizawa
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D000818:Animals; D005621:Friedreich Ataxia; D006801:Humans; D010455:Peptides; D020754:Spinocerebellar Ataxias; D013132:Spinocerebellar Degenerations / Q000145:classification / Q000209:etiology; D019680:Trinucleotide Repeat Expansion
D010455:Peptides; C097188:polyglutamine