Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type
- 13 January 2004
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 62 (1) , 103-106
- https://doi.org/10.1212/01.wnl.0000104491.66816.77
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.Keywords
This publication has 9 references indexed in Scilit:
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS/SACS)—No Longer a Local DiseasePublished by Elsevier ,2003
- Spastic paraplegia, ataxia, mental retardation (SPAR)Neurology, 2002
- Unfolding the role of chaperones and chaperonins in human diseaseTrends in Genetics, 2001
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Unrelated Turkish FamiliesNeuropediatrics, 2001
- Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian familyNeurology, 2000
- ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORFNature Genetics, 2000
- Autosomal recessive spastic ataxia of Charlevoix–SaguenayNeuromuscular Disorders, 1998
- Recommendations for a nomenclature system for human gene mutationsHuman Mutation, 1998
- Broadened Friedreich's ataxia phenotype after gene cloningNeurology, 1997