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EnglishAutosomal 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; (Settembre): 1429-1431 [http://hdl.handle.net/10807/31874]
| Autori: | |
| Titolo: | A novel mutation in the SACS gene associated with a complicated form of spastic ataxia. |
| Data di pubblicazione: | 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 [ |
| Lingua: | Inglese |
| Rivista: | |
| Citazione: | 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; (Settembre): 1429-1431 [http://hdl.handle.net/10807/31874] |
| Appare nelle tipologie: | Articolo in rivista, Nota a sentenza |
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