Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family

Autor: J L Pedroso, P Braga-Neto, A Abrahão, R L M Rivero, C Abdalla, N Abdala, O G P Barsottini
Jazyk: angličtina
Rok vydání: 2011
Předmět:
Zdroj: Arquivos de Neuro-Psiquiatria, Vol 69, Iss 2b, Pp 288-291 (2011)
Druh dokumentu: article
ISSN: 1678-4227
0004-282X
DOI: 10.1590/S0004-282X2011000300004
Popis: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by late-infantile onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Several ARSACS cases have been reported outside Canada in recent decades. This is the first report of typical clinical and neuroimaging features in a Brazilian family with probable diagnosis of ARSACS.
Databáze: Directory of Open Access Journals