Arquivos de Neuro-Psiquiatria 2011-05-01

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

Jos_Luiz Pedroso, Pedro Braga-Neto, Agessandro Abrah_o, Ren_LeandroMagalh_es Rivero, Carolina Abdalla, Nitamar Abdala, OrlandoGrazianiPovoas Barsottini

Index: Arq. Neuropsiquiatr. 69(2B) , 288-91, (2011)

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Abstract

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.