A family with IVIg-responsive Charcot-Marie-Tooth disease

J Neurol. 2013 Apr;260(4):1147-51. doi: 10.1007/s00415-012-6782-1. Epub 2012 Dec 12.

Abstract

We report a family of intravenous immunoglobulin (IVIg)-responsive X-linked Charcot-Marie-Tooth disease Type 1 (CMT1X) with a novel gap junction protein 1 mutation. Two of three siblings in the family complained of subacute motor and sensory impairment, and their symptoms improved after the administration of IVIg. Additional IVIg treatment also resulted in similar improvement. The other also showed a mild improvement on IVIg. It has been suggested that an immune-mediated process is involved in the progression of neuropathy in CMT1X. The finding in our report provides evidence of susceptibility to immune-mediated demyelinating neuropathy in some form of CMT1X. Superimposed demyelinating neuropathy as well as a gradual deterioration of neuropathy over decades can be a clinical manifestation of CMT1X.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / physiopathology
  • Charcot-Marie-Tooth Disease / therapy*
  • Connexins / genetics
  • DNA Mutational Analysis
  • Electric Stimulation
  • Family Health*
  • Female
  • Gap Junction beta-1 Protein
  • Humans
  • Immunoglobulins, Intravenous / therapeutic use*
  • Immunologic Factors / therapeutic use*
  • Male
  • Mutation / genetics
  • Neural Conduction / drug effects
  • Neural Conduction / physiology
  • Peripheral Nerves / physiopathology
  • Young Adult

Substances

  • Connexins
  • Immunoglobulins, Intravenous
  • Immunologic Factors