A phenotype without spasticity in sacsin-related ataxia.
case_report · Level V
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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.
Medical subject headings
- Ataxia
- Cerebellar Diseases
- Chromosome Disorders
- Genes, Recessive
- Heat-Shock Proteins
- Mutation, Missense