Degenerative ataxias: genetics, pathogenesis and animal models.
At present, seven inherited neurodegenerative disorders have been identified to be caused by the polyglutamine-coding CAG triplet expansions in the genes responsible. The long stretch of polyglutamines appears to play a key role in the pathogenesis. Disease models, just recently established with cultured cells and animals, will enable elucidation of common disease mechanisms and treatments.
Kakizuka
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4th Department, Osaka Biosciencs Institute, Japan. kakizuka@obi.or.jp
D000818:Animals; D001259:Ataxia / Q000235:genetics*; D004195:Disease Models, Animal; D009410:Nerve Degeneration / Q000235:genetics*