A novel mutation in SACS gene in a family from southern Italy
- 13 January 2004
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 62 (1) , 100-102
- https://doi.org/10.1212/wnl.62.1.100
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.Keywords
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