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dc.contributor.authorPula, John H
dc.contributor.authorGomez, Christopher M
dc.contributor.authorKattah, Jorge C
dc.date.accessioned2012-08-15T02:58:06Z
dc.date.available2012-08-15T02:58:06Z
dc.date.issued2010-11
dc.identifier.bibliographicCitationPula, 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.0b013e32833eaf71en
dc.identifier.issn1040-8738
dc.identifier.otherDOI: 10.1097/ICU.0b013e32833eaf71
dc.identifier.urihttp://hdl.handle.net/10027/8469
dc.descriptionPost print version of article may differ from published version. The definitive version is available through Lippincott, Williams & Wilkins at DOI: 10.1097/ICU.0b013e32833eaf71en
dc.description.abstractPurpose 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.en
dc.language.isoen_USen
dc.publisherLippincott, Williams & Wilkinsen
dc.titleOphthalmologic features of the common spinocerebellar ataxiasen
dc.typeArticleen


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