Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. Issue 6 (1st June 1999)

• Record Type: Journal Article
• Authors: Chapon, F; Latour, P; Diraison, P; Schaeffer, S; Vandenberghe, A
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 66:Issue 6(1999)
• Page Start: 779
• Page End: 782
• Publication Date: 1999-06-01
• Subjects: Charcot-Marie-Tooth -- myelin protein zero -- axonal neuropathy -- Argyll-Robertson syndrome; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.66.6.779
• Languages: English
• ISSNs: 0022-3050

Abstract

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.