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Neurology. 2004 Jan 13;62(1):100-2.

A novel mutation in SACS gene in a family from southern Italy.

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  • 1Department of Neurological Sciences, Federico II University, Naples, Italy. sky569@libero.it

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.

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PMID:
14718706
[PubMed - indexed for MEDLINE]
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