Chapter 27 Spinocerebellar Ataxia Type 7 Clinical Features to Cellular Pathogenesis

SCA7 is an autosomal dominant inherited neurodegenerative syndrome of progressive cerebellar ataxia and retinal degeneration that affects people on every continent. The clinical severity in SCA7 is rather broad, with cases ranging from infantile onset with early death due to nonneurological involvement to elderly presentations of isolated ataxia that progress extremely slowly. The breadth of clinical presentation and natural history stems from …