Autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS; MIM 270550) is characterized by early-onset progressive spastic ataxia, mild cognitive impairment, axonal polyneuropathy, predominant vermian atrophy at brain MRI, and characteristic hypermyelinated retinal nerve fibers at fundoscopy [1, 2]. Mutations in SACS, on chromosome 13q11 were first identified in French-Canadian patients [3]; subsequently extension of molecular screening to larger cohorts of patients led to the identification of ARSACS worldwide and also to broaden both its genotypic and its phenotypic spectrum [
Silvestri, G., Masciullo, M., Modoni, A., Fattori, F., Santoro, M., Tonali, P., Santorelli, F. M., A novel mutation in the SACS gene associated with a complicated form of spastic ataxia., <<JOURNAL OF NEUROLOGY>>, 2008; 255 (9): 1429-1431. [doi:10.1007/s00415-008-0936-1] [http://hdl.handle.net/10807/31874]
A novel mutation in the SACS gene associated with a complicated form of spastic ataxia.
Silvestri, Gabriella;Masciullo, Marcella;Modoni, Anna;
2008
Abstract
Autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS; MIM 270550) is characterized by early-onset progressive spastic ataxia, mild cognitive impairment, axonal polyneuropathy, predominant vermian atrophy at brain MRI, and characteristic hypermyelinated retinal nerve fibers at fundoscopy [1, 2]. Mutations in SACS, on chromosome 13q11 were first identified in French-Canadian patients [3]; subsequently extension of molecular screening to larger cohorts of patients led to the identification of ARSACS worldwide and also to broaden both its genotypic and its phenotypic spectrum [
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