Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) in three brothers of a family from Kerala

Q3 Medicine
S. Sheetal, Amith Sasikumar, L. Tomy
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引用次数: 1

Abstract

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is an uncommon spastic-ataxic syndrome that is characterized by cerebellar ataxia, spasticity, and peripheral neuropathy. Though initially reported from Charlevoix-Saguenay-Lac-St-Jean region in Canada, this neurodegenerative disorder has been reported from other regions of the world. There have been very few reports on this condition from Kerala, India. We hereby report a family of three brothers from Kerala who were diagnosed with this condition.
喀拉拉邦一家三兄弟的常染色体隐性沙格内痉挛性共济失调(ARSACS)
沙格内常染色体隐性痉挛性共济失调(ARSACS)是一种罕见的痉挛性共济障碍综合征,以小脑共济失调、痉挛和周围神经病变为特征。尽管最初在加拿大的Charlevoix-Saguenay-Lac-St Jean地区报道,但这种神经退行性疾病在世界其他地区也有报道。印度喀拉拉邦很少有关于这种情况的报道。我们在此报告一个来自喀拉拉邦的三兄弟之家,他们被诊断患有这种疾病。
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来源期刊
Annals of Movement Disorders
Annals of Movement Disorders Medicine-Surgery
CiteScore
0.60
自引率
0.00%
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0
审稿时长
17 weeks
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