A novel mutation in SACS gene in a family from southern Italy.
作者信息
Criscuolo C, Banfi S, Orio M, Gasparini P, Monticelli A, Scarano V, Santorelli F M, Perretti A, Santoro L, De Michele G, Filla A
机构信息
Department of Neurological Sciences, Federico II University, Naples, Italy.
出版信息
Neurology. 2004 Jan 13;62(1):100-2. doi: 10.1212/wnl.62.1.100.
PMID:14718706
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.
摘要
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