Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A Review

Abstract excerpt

Spinocerebellar ataxias (SCAs) are a genetically diverse group of mainly autosomal dominant disorders in which cerebellar disease can occur in isolation or concomitantly with brainstem or retinal abnormalities. Although autosomal dominant cerebellar ataxias have different clinical features and different disease-causing genes, they share a common underlying mutational mechanism—an expanded trinucleotide repeats...

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