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Updated: Jun 9, 2026

Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
Ophthalmologic features of the common spinocerebellar ataxias
John H Pula1, Christopher M Gomez, Jorge C Kattah
1University of Illinois College of Medicine at Peoria, Department of Neurology and Neuro-ophthalmology, Peoria, USA.
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.
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