Article
Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration.
Cerebellum (London, England) - 1 Jan 2008
Garden Gwenn A, La Spada Albert R
Abstract excerpt
Spinocerebellar ataxia type 7 (SCA7) is unique among CAG/polyglutamine (polyQ) repeat diseases due to dramatic intergenerational instability in repeat length and an associated cone-rod dystrophy retinal degeneration phenotype. SCA7 is caused by a polyQ expansion in the protein ataxin-7. Like other neurodegenerative diseases caused by polyQ expansion mutations, the spectrum of clinical severity and disease...
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