Ultrastructural immunocytochemical abnormalities of peripheral myelin proteins in hereditary sensory-motor neuropathies: 12 cases

Ann N Y Acad Sci. 1999 Sep 14:883:186-95.

Abstract

Hereditary sensorimotor neuropathies form a heterogeneous group of genetically determined diseases, of which Charcot-Marie-Tooth (CMT) disease is the most common. In order to establish relations between genotype and the expression of peripheral myelin proteins, we carried out a quantitative study by ultrastructural immunocytochemistry of several myelin proteins (PMP22, P0, MBP) on sural nerve biopsy samples from 12 unrelated CMT patients. The diagnosis of CMT was based on the clinical, electrophysiological, and histological findings along with those of molecular biological studies. CMT X diagnoses were not included in this study. The expression of myelin proteins was well correlated with the molecular biological findings in these patients. The results also provided evidence for interference between different myelin proteins. Our findings are in line with the results from animal studies (trembler and knock-out mice), which may provide insights into the pathogenesis of these human conditions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / pathology*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Chromosomes, Human, Pair 17
  • Gene Deletion
  • Gene Duplication
  • Humans
  • Mice
  • Mice, Knockout
  • Mice, Neurologic Mutants
  • Microscopy, Immunoelectron / methods
  • Myelin Proteins / analysis*
  • Myelin Proteins / genetics*
  • Sural Nerve / pathology
  • Sural Nerve / ultrastructure*

Substances

  • Myelin Proteins
  • PMP22 protein, human
  • Pmp22 protein, mouse