A novel mutation in SACS gene in a family from southern Italy.
case_report · Level V
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Abstract
A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC), leading to a frameshift with a premature termination of the gene product sacsin, in two sisters from consanguineous parents. The phenotype is similar to previously described patients with ARSACS.
Medical subject headings
- Cerebellar Ataxia
- Heat-Shock Proteins
- Mutation