Title : Ophthalmologic features of the common spinocerebellar ataxias
نویسندگان
چکیده
Purpose of review: The spinocerebellar ataxias 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 spinocerebellar ataxias 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 spinocerebellar ataxia, and a review of the most common genetic subtypes of this disorder is helpful in diagnosis and management. Abstract word count: 129 wordsword count: 129 words
منابع مشابه
Spinocerebellar ataxias – genotype-phenotype correlations in 104 Brazilian families
OBJECTIVE Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene. The aim of the current study was to evaluate a large group of patients from 104 Brazilian families with spinocerebellar ataxias. METHODS We studied 150 patients from 104 families with spino...
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