, Volume 253, Issue 10, pp 1372-1373
Date: 29 Aug 2006

Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X

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Sirs: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disease characterized by the early onset of gait unsteadiness, often at the age of 12 to 18 months, with spastic ataxia, dysarthria, nystagmus, and sensory and motor neuropathy. ARSACS was originally described in the Charlevoix-Saguenay region, in northeastern Quebec, and it has been considered to be a genetic disorder confined to French Canadians [1]. Since the SACS gene responsible for ARSACS was reported to have a single giant exon encoding a 3829-amino-acid protein, sacsin [4], novel mutations have been reported during the past 2 years in Tunisia [5], Italy [2, 6], Turkey [9], Japan [7, 8, 10, 11] and Spain [3]. Recently eight exons were identified upstream of the giant exon. (Genbank, AL157766). We describe a patient with ARSACS harboring the novel homozygous mutation of 12973C>T, which results in the nonsense mutation Arg4325X.

Clinical data

This 26-year-old woman started to walk at the ...

Received in revised form: 18 January 2006