Ophthalmologic features of the common spinocerebellar ataxias


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Abstract

Purpose of reviewThe spinocerebellar ataxias (SCAs) are a phenotypically and genetically diverse group of autosomal dominant disorders that cause pathological degeneration in the cerebellum, brainstem, and retina, resulting in a wide variety of ophthalmologic signs and symptoms.Recent findingsThe genetic discrimination of the SCAs has advanced dramatically over the past decade. The most common genetic (mutational) mechanism for the SCAs is an abnormal expansion to a stretch of glutamine amino acid residues (polyglutamine tract) encoded by any of several SCA-causing genes. Knowledge regarding the pathophysiology of polyglutamine-expansion-induced protein dysfunction is an area of intense investigation.SummaryThe ophthalmologist may be the first to encounter a patient with SCA, and a review of the most common genetic subtypes of this disorder is helpful in diagnosis and management.

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