Neurological Sciences

, Volume 37, Issue 7, pp 1063–1070 | Cite as

CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction

  • Chong Xie
  • Xiajun Zhou
  • Desheng Zhu
  • Wei Liu
  • Xiaoqing Wang
  • Hong Yang
  • Zezhi Li
  • Yong Hao
  • Guang-Xian ZhangEmail author
  • Yangtai Guan
Original Article


X-linked Charcot-Marie-Tooth disease, type 1 (CMTX1) is one of the most common inherited neurological disorders. Obvious CNS involvement is relatively rare in CMTX1 patients. A 24-year-old male with CMTX1 presented with three transient stroke-like attacks, and was followed up regularly for 6 years with brain MRI and electrophysiological examination. Transient symmetrical high signals on T2 imaging and restricted diffusion were found in bilateral deep white matter. Electrophysiological measurement revealed a sensorimotor peripheral neuropathy with slightly reduced nerve conduction velocities. A novel thymine to cytosine mutation at nucleotide position 445 in the connexin 32 allele of the GJB1 gene was identified. During the 6-year longitudinal study, patient’s motor and sensory function did not worsen; radiological abnormalities correlated with episodes of CNS dysfunction and resolved after clinical recovery; electrophysiological records showed no obvious change. Little change in the patient’s clinical, radiological and electrophysiological results over the follow-up reflected a slow disease progression.


X-linked Charcot-Marie-Tooth disease CNS involvement Symmetrical white matter abnormalities Nerve conduction velocity Cx32 gene mutation 



Compound muscle action potential


Charcot-Marie-Tooth disease


X-linked Charcot-Marie-Tooth disease


X-linked Charcot-Marie-Tooth disease, type 1


Central nervous system


Connexin 32


Diffusion-weighted imaging


Fluid attenuated inversion recovery


Gap junction beta 1


Sensory nerve action potential



This work was supported by the National Natural Science Foundations of China (81230027, 81070959) and Key Scientific and Technological Project of Shanghai (11411950300). We thank the patients for their participation. We also thank Katherine Regan for editorial assistance.

Compliance with ethical standards

Conflict of interest

On behalf of all authors, we state that there is no conflict of interest.

Supplementary material

10072_2016_2537_MOESM1_ESM.tif (6 mb)
The CT angiography showed no abnormalities. (TIFF 6100 kb)
10072_2016_2537_MOESM2_ESM.tif (17.8 mb)
The CT perfusion showed no abnormalities. (TIFF 18219 kb)
10072_2016_2537_MOESM3_ESM.docx (31 kb)
Supplementary material 3 (DOCX 31 kb)


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Copyright information

© Springer-Verlag Italia 2016

Authors and Affiliations

  • Chong Xie
    • 1
  • Xiajun Zhou
    • 4
  • Desheng Zhu
    • 2
  • Wei Liu
    • 1
  • Xiaoqing Wang
    • 1
  • Hong Yang
    • 3
  • Zezhi Li
    • 4
  • Yong Hao
    • 4
  • Guang-Xian Zhang
    • 5
    Email author
  • Yangtai Guan
    • 1
    • 4
  1. 1.Department of Neurology, Changhai HospitalSecond Military Medical UniversityShanghaiChina
  2. 2.Department of Neurology, Huashan HospitalFudan UniversityShanghaiChina
  3. 3.Department of NeurologyShanghai Yangpu Geriatric HospitalShanghaiChina
  4. 4.Department of Neurology, Renji HospitalShanghai Jiaotong UniversityShanghaiChina
  5. 5.Department of NeurologyThomas Jefferson UniversityPhiladelphiaUSA

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