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Article

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.

Journal of neurology - 1 Jun 2008

Kamada S, Okawa S, Imota T, Sugawara M, Toyoshima I

Abstract excerpt

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder first described among French Canadians in Quebec. To date, 24 mutations have been reported in the SACS gene of ARSACS patients. The authors report a clinical and genetic analysis of a Japanese family with ARSACS with novel compound heterozygous mutations in the SACS gene (N161fsX175, L802P). The phenotype is similar...

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Identifiers

PMID: 18484239
DOI: 10.1007/s00415-008-0672-6

Genes

SACS

Variants

Provenance

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.PMID 18484239Read ↗

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