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Keywords:

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

ABSTRACT

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. Muscle Nerve 49:451–454, 2014