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BIBTEX RIS

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

2011; Thieme Medical Publishers (Germany); Volume: 69; Issue: 2b Linguagem: Inglês

10.1590/s0004-282x2011000300004

ISSN

1678-4227

Autores

José Luiz Pedroso, Pedro Braga‐Neto, Agessandro Abrahão, René Leandro Magalhães Rivero, C. Abdalla, Nitamar Abdala, Orlando Graziani Póvoas Barsottini,

Tópico(s)

Neurological diseases and metabolism

Resumo

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.

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