Recurrent central nervous system white matter changes in charcot-Marie-tooth type X disease

Muscle Nerve. 2014 Mar;49(3):451-4. doi: 10.1002/mus.24108. Epub 2014 Jan 27.


Introduction: X-linked Charcot-Marie-Tooth (CMT1X) disease is caused by mutations in the GJB1 gene. We describe a young man who presented with recurrent central nervous symptoms and transient white matter changes in the setting of a novel mutation in the GJB1 gene.

Methods: Evaluation included clinical examination, neuroimaging, electrophysiological, and molecular genetic studies.

Results: Clinical examination on 2 admissions 5 years apart demonstrated hemiparesis with findings of underlying peripheral neuropathy. Electrophysiologic studies revealed a sensorimotor polyneuropathy. MRI studies from both admissions revealed white matter changes, with improvement on an intervening study. Mutation analysis showed a novel mutation (c.98T>A; p.Ile33Asn) in the GJB1 gene.

Conclusions: Mutations in GJB1 can result in recurrent central nervous system symptoms with transient white matter signal changes on MRI. In patients presenting with hemiparesis, the presence of signs of a peripheral neuropathy may facilitate identification of CMT1X, and is likely to affect clinical management.

Keywords: GJB1 gene; MRI; Marie; Tooth disease; X-linked Charcot; connexin 32; hereditary motor and sensory polyneuropathy.

Publication types

  • Case Reports

MeSH terms

  • Central Nervous System / pathology*
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / pathology*
  • Child
  • Connexins / genetics
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics
  • Nerve Fibers, Myelinated / pathology*
  • Neural Conduction / genetics
  • Neural Conduction / physiology
  • Peripheral Nerves / physiopathology


  • Connexins
  • connexin 32