A novel mutation in the SACS gene associated with a complicated form of spastic ataxia.

Gabriella Silvestri, Marcella Masciullo, Anna Modoni, F Fattori, Massimo Santoro, Pietro Tonali, Filippo Maria Santorelli

Risultato della ricerca: Contributo in rivistaArticolo in rivista

6 Citazioni (Scopus)

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 originaleEnglish
pagine (da-a)1429-1431
Numero di pagine3
RivistaJournal of Neurology
Stato di pubblicazionePubblicato - 2008

Keywords

  • Sacsin
  • spastic ataxia

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