Leukoencephalopathy with ataxia caused by mutation of CLCN2 gene: one case report / 中华神经科杂志
Chinese Journal of Neurology
;
(12): 589-592, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-885467
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Neurology
Year:
2021
Type:
Article
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