Abstract
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 to that of previously reported ARSACS patients.
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Kamada, S., Okawa, S., Imota, T. et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). J Neurol 255, 803–806 (2008). https://doi.org/10.1007/s00415-008-0672-6
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DOI: https://doi.org/10.1007/s00415-008-0672-6