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Ophthalmologic features of the common spinocerebellar ataxias

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Title: Ophthalmologic features of the common spinocerebellar ataxias
Author(s): Pula, John H; Gomez, Christopher M; Kattah, Jorge C
Abstract: Purpose of review: The 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 findings: The 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. Summary: The 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.
Issue Date: 2010-11
Publisher: Lippincott, Williams & Wilkins
Citation Info: Pula, J. H., Gomez, C. M., & Kattah, J. C. 2010. Ophthalmologic features of the common spinocerebellar ataxias. Current Opinion in Ophthalmology, 21(6): 447-453. DOI: 10.1097/ICU.0b013e32833eaf71
Type: Article
Description: Post print version of article may differ from published version. The definitive version is available through Lippincott, Williams & Wilkins at DOI: 10.1097/ICU.0b013e32833eaf71
ISSN: 1040-8738
Date Available in INDIGO: 2012-08-15

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