Demyelinating CMT--what's known, what's new and what's in store?

Neurosci Lett. 2015 Jun 2:596:14-26. doi: 10.1016/j.neulet.2015.01.059. Epub 2015 Jan 24.

Abstract

Inherited neuropathies known collectively as Charcot-Marie-Tooth disease are one of the most common inherited neurological conditions affecting ∼1 in 2500 people. A heterogenous disorder, CMT is divided into subtypes based on the pattern of inheritance and also by neurophysiological studies. Despite the clinical similarities among patients with demyelinating CMT, it is recognized that this group of disorders is both genetically and phenotypically heterogenous. Understanding the pathogenesis of these disorders requires an intimate knowledge of normal myelin development and homeostasis. Improvements in genetic testing techniques over the last 20 years have contributed majorly to the identification of specific genes, proteins, and molecular pathways that are providing the basis for understanding the disease processes and developing rational approaches to therapy.

Keywords: Charcot–Marie–Tooth disease; Cx32; Demyelinating neuropathies; Inherited neuropathies; MPZ; PMP22; Unfolded protein response.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Charcot-Marie-Tooth Disease* / classification
  • Charcot-Marie-Tooth Disease* / genetics
  • Charcot-Marie-Tooth Disease* / pathology
  • Demyelinating Diseases* / classification
  • Demyelinating Diseases* / genetics
  • Demyelinating Diseases* / pathology
  • Humans
  • Mutation