CLCN2基因变异所致的脑白质病伴共济失调一例
Chinese Journal of Neurology(2021)
Abstract
脑白质病伴共济失调是一种由CLCN2基因变异引起的极为罕见的常染色体隐性遗传病。常见临床表现包括小脑性共济失调、头痛、认知障碍等,其头颅磁共振改变具有明显特征,目前报道的病例较少。现报道1例我院近期收治的48岁女性脑白质病伴共济失调患者的临床资料,供临床诊治参考。
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Key words
Leukoencephalopathies,Ataxia,Chloride channels
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