Article
Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.
Archives of neurology - 1 Jul 2003
El Euch-Fayache Ghada, Lalani Irfan, Amouri Rim, Turki Ilhem, Ouahchi Karim, Hung Wu-Yen, Belal Samir, Siddique Teepu, Hentati Faycal
Abstract excerpt
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogenous disorder reported in Quebec caused by mutations in the SACS gene (chromosome 13q12). Recently, we identified a Tunisian kindred demonstrating linkage to the ARSACS locus. OBJECTIVE: To report clinical, neurophysiological, and nerve biopsy findings in patients with autosomal recessive cerebellar ataxia related...
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