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Novel SACS Mutations in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Type

Overview
Journal Neurology
Specialty Neurology
Date 2004 Jan 14
PMID 14718707
Citations 25
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Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial disease with prominent myelinated fibers in the optic fundus. ARSACS is frequent in the Charlevoix-Saguenay region of Quebec but rare elsewhere. Mutations in SACS, encoding sacsin, a protein of unknown function, are associated with ARSACS. The authors identified three new SACS mutations in two Italian patients whose phenotype closely matches that of Quebec cases, but without retinal striation.

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