Abstract:Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder caused by a deleterious CAG repeat expansion in the coding region of the ataxin‐7 gene on chromosome 3. Patients with infantile SCA‐7 have the largest repeat expansion (>200 repeats) and the most severe disease characterized by progressive loss of coordination, dysarthria, dysphagia and retinal degeneration. Death in these infants results from severe hypotonia, aspiration pneumonia and respiratory failure. To understand th… Show more
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