Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil

ABSTRACT Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal hypermyelin...

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Main Authors: Daniela Burguêz, Camila Maria de Oliveira, Marcio Aloísio Bezerra Cavalcanti Rockenbach, Helena Fussiger, Leonardo Modesti Vedolin, Pablo Brea Winckler, Marcelo Krieger Maestri, Alessandro Finkelsztejn, Filippo Maria Santorelli, Laura Bannach Jardim, Jonas Alex Morales Saute
Format: Article
Language:English
Published: Thieme Revinter Publicações
Series:Arquivos de Neuro-Psiquiatria
Subjects:
ataxia cerebelar
paraparesia espástica
genética
imagem por ressonância magnética
oftalmologia
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017000600339&lng=en&tlng=en
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