A phenotype without spasticity in sacsin-related ataxia
- 28 June 2005
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 64 (12) , 2129-2131
- https://doi.org/10.1212/01.wnl.0000166031.91514.b3
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.Keywords
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