title: 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.
abstract: BACKGROUND
  Transient white matter lesions have been rarely reported in X-linked Charcot-Marie-Tooth disease type 1.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Zhao
authors.forename: Yanchen
authors.initials: Y
authors.lastname: Xie
authors.forename: Xiaoquan
authors.initials: X
authors.lastname: Zhu
authors.forename: Huigang
authors.initials: H
authors.lastname: Wang
authors.forename: Yao
authors.initials: Y
authors.lastname: Li
authors.forename: Jimei
authors.initials: J
authors.lastname: Li
mesh_terms: D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002681:China; D017630:Connexins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D066127:White Matter / Q000473:pathology*; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein
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