夏尔沃-萨格奈常染色体隐性痉挛性共济失调（ARSACS）：巴西一个家族中的典型临床和神经影像学特征

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

作者信息

Pedroso José Luiz, Braga-Neto Pedro, Abrahão Agessandro, Rivero René Leandro Magalhães, Abdalla Carolina, Abdala Nitamar, Barsottini Orlando Graziani Povoas

机构信息

Department of Neurology and Neurosurgery, Division of General Neurology and Ataxias, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

出版信息

Arq Neuropsiquiatr. 2011;69(2B):288-91. doi: 10.1590/s0004-282x2011000300004.

DOI:10.1590/s0004-282x2011000300004

PMID:21625752

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.

摘要

夏尔沃-萨格奈常染色体隐性痉挛性共济失调（ARSACS）是一种神经退行性疾病，其特征为婴儿晚期起病的痉挛性共济失调及其他神经学特征。ARSACS在加拿大魁北克省东北部患病率很高。近几十年来，加拿大境外也报告了几例ARSACS病例。本文首次报告了一个巴西家庭中可能诊断为ARSACS的典型临床和神经影像学特征。