Identification of a SACS gene missense mutation in ARSACS.
case_report · Level V
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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).
Medical subject headings
- Ataxia
- Heat-Shock Proteins
- Muscle Spasticity
- Mutation, Missense