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Case Reports
. 2005 Jun 28;64(12):2129-31.
doi: 10.1212/01.WNL.0000166031.91514.B3.

A phenotype without spasticity in sacsin-related ataxia

H Shimazaki  1 , Y Takiyama, K Sakoe, Y Ando, I Nakano
Affiliations
Case Reports

A phenotype without spasticity in sacsin-related ataxia

H Shimazaki et al. Neurology. .

Abstract

The authors describe two Japanese siblings with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without spasticity, usually a core feature of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at amino acid residue 304.

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