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Open Access Case report

Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report

Yuan Zhao1, Yanchen Xie1*, Xiaoquan Zhu2, Huigang Wang1, Yao Li1 and Jimei Li1

Author Affiliations

1 Department of Neurology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, People’s Republic of China

2 Laboratory for Medical Genetics, Institute of Geriatrics, Beijing Hospital, Ministry of Health, Beijing 100730, People’s Republic of China

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BMC Neurology 2014, 14:156  doi:10.1186/s12883-014-0156-5

Published: 3 August 2014



Transient white matter lesions have been rarely reported in X-linked Charcot-Marie-Tooth disease type 1.

Case presentation

We describe a 15-year-old boy who presented transient and recurrent weakness of the limbs for 5 days. His mother, his mother’s mother and his mother’s sister presented pes cavus. MRI and electrophysiology were performed in the proband. Gap junction protein beta l gene was analyzed by PCR-sequencing in the proband and his parents. The electrophysiological studies showed a mixed demyelinating and axonal sensorimotor neuropathy. MRI showed white matter lesions in the internal capsule, corpus callosum and periventricular areas, which showed almost complete resolution after two months. T278G mutation in Gap junction protein beta l gene was detected in the proband and his mother.


This case report highlights that the novel T278G mutation of Gap junction protein beta l maybe could result in X-linked Charcot-Marie-Tooth disease type 1 with predominant leucoencephalopathy. The white matter changes in MRI of X-linked Charcot-Marie-Tooth disease type 1 patient are reversible.

Charcot-Marie-Tooth disease; White Matter; Gap junction protein beta l; Connexins; Mutation