Leukoencephalopathy with ataxia caused by mutation of CLCN2 gene: one case report
10.3760/cma.j.cn113694-20200917-00720
- VernacularTitle:CLCN2基因变异所致的脑白质病伴共济失调一例
- Author:
Jianquan SHI
;
Lei ZHOU
;
Chongbo ZHAO
- From:
Chinese Journal of Neurology
2021;54(6):589-592
- CountryChina
- Language:Chinese
-
Abstract:
Leukoencephalopathy with ataxia (LKPAT) is a rare autosomal recessive disorder caused by mutations of CLCN2 gene. LKPAT is clinically characterized by cerebellar ataxia, headache and cognition impairment. Brain magnetic resonance imaging showed characteristic hyperintensities along the pyramidal fiber tracts. Few cases have been reported so far. This article reported the clinical data of a 48 years old female patient with LKPAT for clinical reference.
