Mechanisms of disease: A molecular genetic update on hereditary axonal neuropathies

Research output: Contribution to journalReview article

79 Scopus citations

Abstract

Hereditary axonal peripheral neuropathies comprise a genetically heterogeneous group of disorders that are clinically subsumed under the name of Charcot -Marie -Tooth (CMT) disease type 2 (CMT2). Historically, two classes of CMT have been differentiated: demyelinating forms of CMT (CMT1), in which nerve conduction velocities are decreased, and the axonal CMT2 forms, in which nerve conduction velocities are preserved. Recently, a number of genes that are defective in patients with the main forms of CMT2 have been identified. The molecular dissection of cellular functions of the related gene products has only just begun, and detailed pathophysiological models are still lacking. The known CMT2-related genes represent key players in these pathways, however, and are likely to provide powerful tools for identifying targets for future therapeutic intervention.

Original languageEnglish (US)
Pages (from-to)45-53
Number of pages9
JournalNature Clinical Practice Neurology
Volume2
Issue number1
DOIs
StatePublished - Jan 1 2006
Externally publishedYes

Keywords

  • Axonal neuropathy
  • Charcot-Marie-Tooth disease
  • HMSN II
  • Motor neurophathy

ASJC Scopus subject areas

  • Neuroscience(all)

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