Molecular genetics of autosomal-dominant axonal charcot-marie-tooth disease

Research output: Contribution to journalReview article

63 Scopus citations

Abstract

The autosomal-dominant axonal peripheral neuropathies comprise a genetically heterogeneous group of disorders that are clinically subsumed under Charcot-Marie-Tooth disease type 2 (CMT2). A significant increase in the number of genes underlying major forms of CMT2 has improved the classification of specific CMT phenotypes. The molecular dissection of cellular functions of the related gene products has only begun and detailed pathophysiological models are still missing, but already the biological scope of genes linked to CMT2 is more diversified than CMT1. The known CMT2 genes present key players in these pathways and will likely prove as powerful tools in identifying eventual future targets for therapeutic intervention.

Original languageEnglish (US)
Pages (from-to)63-74
Number of pages12
JournalNeuromolecular medicine
Volume8
Issue number1-2
DOIs
StatePublished - Mar 2006
Externally publishedYes

Keywords

  • Axonal neuropathy
  • Charcot-Marie-Tooth disease
  • HMSN II
  • Motor neuropathy, CMT2

ASJC Scopus subject areas

  • Neuroscience(all)
  • Genetics
  • Cell Biology

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