文章基本信息

标题：A case of X-linked Charcot-Marie-tooth disease type 1 manifesting as recurrent alternating hemiplegia with transient cerebral white matter lesions (Case Report)
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作者：Minsung Kang ; Sun-Jae Hwang ; Jin-Hong Shin 等
期刊名称：Korean Journal of Clinical Neurophysiology
印刷版ISSN：1229-6414
出版年度：2021
卷号：23
期号：2
页码：130-133
DOI：10.14253/acn.2021.23.2.130
语种：English
出版社：KoreaMed Synapse
摘要：X-linked Charcot Marie Tooth disease type 1 (CMTX1) is a clinically heterogenous X-linked hereditary neuropathy caused by mutation of the gene encoding gap junction beta 1 protein (GJB1). Typical clinical manifestations of CMTX1 are progressive weakness or sensory disturbance due to peripheral neuropathy. However, there have been some CMTX1 cases with accompanying central nervous system (CNS) manifestations. We report the case of a genetically confirmed CMTX1 patient who presented recurrent transient CNS symptoms without any symptom or sign of peripheral nervous system involvement.
关键词：CMTX1;GJB1;Central nervous system;Hemiplegia