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Case Reports
. 2004 Jan 13;62(1):107-9.
doi: 10.1212/01.wnl.0000099371.14478.73.

Identification of a SACS gene missense mutation in ARSACS

T Ogawa  1 , Y Takiyama, K Sakoe, K Mori, M Namekawa, H Shimazaki, I Nakano, M Nishizawa
Affiliations
Case Reports

Identification of a SACS gene missense mutation in ARSACS

T Ogawa et al. Neurology. .

Abstract

The authors describe two patients in a Japanese family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. They presented early onset spastic ataxia, sensorimotor neuropathy, nystagmus, slurred speech, and hypermyelinated retinal nerve fibers. The authors identified a homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R).

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Comment in

  • ARSACS goes global.
    Gomez CM. Gomez CM. Neurology. 2004 Jan 13;62(1):10-1. doi: 10.1212/wnl.62.1.10. Neurology. 2004. PMID: 14718687 No abstract available.

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