Inherited demyelinating neuropathies: from gene to disease

Curr Opin Neurol. 1998 Oct;11(5):545-56. doi: 10.1097/00019052-199810000-00018.

Abstract

Hereditary peripheral neuropathies have traditionally been classified by the clinical disease pattern and mode of inheritance. It only recently became possible to provide a more precise subdivision of the diseases by the discovery of distinct genetic defects. Most inherited peripheral neuropathies are caused by distinct mutations in the genes of three well known myelin components, peripheral myelin protein 22, P0 and the gap junction protein connexin 32. The present review addresses the expression and functional roles of these myelin components, as well as the putative pathomechanisms caused by distinct mutations in the corresponding genes. Moreover, the suitability of mutant animals, such as knock-out mice and transgenic rodents, as artificial models for these diseases and their use in the study of possible treatment strategies are discussed.

Publication types

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

MeSH terms

  • Animals
  • Demyelinating Diseases / genetics*
  • Disease Models, Animal
  • Genes / genetics
  • Humans
  • Myelin Proteins / genetics
  • Myelin Sheath / metabolism
  • Myelin Sheath / pathology
  • Myelin Sheath / ultrastructure
  • Peripheral Nerves / metabolism
  • Peripheral Nerves / pathology
  • Peripheral Nerves / ultrastructure

Substances

  • Myelin Proteins