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Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
  1. F Chapona,
  2. P Latourc,
  3. P Diraisonb,
  4. S Schaefferb,
  5. A Vandenberghec
  1. aLaboratoire de Neuropathologie, bService de Neurologie Dejerine, Centre Hospitalier Universitaire de Caen, 14033 Caen, France, cUnité de Neurogénétique Moléculaire, Hospices Civils de Lyon, Hôpital de l’Antiquaille 69005 Lyon, France
  1. Dr F Chapon, Laboratoire de Neuropathologie, CHRU de CAEN, Avenue Côte de Nâcre, F-14033 Caen Cedex, France. Telephone 0033 2 31 06 46 21; fax 0033 2 31 06 46 27; email chapon-f{at}chu-caen.fr

Abstract

A French family had Charcot-Marie-Tooth disease type 2 (CMT2) which was characterised by late onset of peripheral neuropathy involvement, Argyll Robertson-like pupils, dysphagia, and deafness. Electrophysiological studies and nerve biopsy defined the neuropathy as axonal type. Genetic analysis of myelin protein zero (MPZ) found a mutation in codon 124 resulting in substitution of threonine by methionine. One of the patients, presently 30 years old, showed only Argyll Robertson-like pupils as an objective sign but no clinical or electrophysiological signs of peripheral neuropathy.

  • Charcot-Marie-Tooth
  • myelin protein zero
  • axonal neuropathy
  • Argyll-Robertson syndrome

https://doi.org/10.1136/jnnp.66.6.779

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