A clinical review of Charcot-Marie-Tooth

Ann N Y Acad Sci. 1999 Sep 14:883:69-76.

Abstract

CMT polyneuropathy is a complex genetically and clinically heterogeneous group of disorders. The rapid advances in our understanding of the molecular basis of these groups of neuropathies have helped to resolve some of the controversial issues regarding the clinical and genetic classification. However, there is still confusion and chaos in the terminology employed by different groups of researchers. A reclassification based on the molecular mechanisms of these neuropathies will help in the future to unify and simplify the diagnosis of these complex disorders. The understanding of the molecular mechanisms will also help in the future to find a way to control or treat these hereditary neuropathies.

Publication types

  • Review

MeSH terms

  • Charcot-Marie-Tooth Disease / classification*
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / physiopathology*
  • Connexins / genetics
  • Gene Duplication
  • Humans
  • Membrane Proteins*
  • Myelin and Lymphocyte-Associated Proteolipid Proteins
  • Nerve Tissue Proteins*
  • Proteolipids / genetics

Substances

  • Connexins
  • Membrane Proteins
  • Myelin and Lymphocyte-Associated Proteolipid Proteins
  • Nerve Tissue Proteins
  • PLLP protein, human
  • Proteolipids