Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 14718707.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Ataxia
- Genes, Recessive
- Heat-Shock Proteins
- Muscle Spasticity
- Mutation