Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
- 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
- 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
- Received 23 July 1998
- Revised 16 November 1998
- Accepted 20 November 1998
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.
