X-linked Dominant Charcot-Marie-Tooth Disease and Other Potential Gap-Junction Diseases of the Nervous System

Trends Neurosci. 1995 Jun;18(6):256-62.

Abstract

Gap junctions play important roles in the exchange of information and metabolites in the nervous system. These roles are highlighted by peripheral neuropathy (X-linked dominant Charcot-Marie-Tooth disease) that is associated with mutations in a gap-junction protein (connexin32), resulting in loss of function, and by somatic dysfunctions where changes in expression, organization or function of gap junctions are associated with neuronal hyper- or hypoexcitability. In this review, the causes and consequences of this gap-junction-related peripheral neuropathy and other pathological conditions of the nervous system, where dysfunctions of junctional communication are considered to play a casual role, are considered.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosomes / genetics
  • Connexins
  • Gap Junctions / pathology*
  • Mutation
  • Peripheral Nervous System Diseases / genetics*

Substances

  • Connexins