Identification of a SACS gene missense mutation in ARSACS
- 13 January 2004
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 62 (1) , 107-109
- https://doi.org/10.1212/01.wnl.0000099371.14478.73
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).Keywords
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