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Neurology. 2005 Jun 28;64(12):2129-31.

A phenotype without spasticity in sacsin-related ataxia.

Author information

  • 1Department of Neurology, Jichi Medical School, Tochigi 329-0498, Japan.

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.

PMID:
15985586
[PubMed - indexed for MEDLINE]
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