Hereditary predominantly motor neuropathies

Research output: Contribution to journalArticlepeer-review

Abstract

PURPOSE OF REVIEW: We review recent advances in Charcot-Marie-Tooth disease (CMT), the most frequent inherited neuromuscular disorder. RECENT FINDINGS: During the last year further progresses have occurred in this field and concerned identification of novel mutations in recently identified genes, allowing better definition of associated phenotypes; increased knowledge on pathophysiologic mechanisms of the different CMT types, with the contribution of cellular and animal model studies; studies on the natural history of CMT and attempts at developing appropriate outcome measures to assess disease course and intervention efficacy; trials with ascorbic acid in CMT type 1A; and studies on new possible therapeutic strategies. SUMMARY: Such advances have implications on clinical management of CMT and are modifying the clinical approach to CMT, by improving diagnostic tools, allowing better definition of prognosis, and increasing the hope for future effective treatments. Research on CMT is important as is shedding light on important pathways that regulates the normal function of axonal transport, vesicular trafficking, and also revealing new aspects of intracellular organelles' function and interactions.

Original languageEnglish
Pages (from-to)451-459
Number of pages9
JournalCurrent Opinion in Neurology
Volume22
Issue number5
DOIs
Publication statusPublished - Oct 2009

Keywords

  • Charcot-Marie-Tooth disease
  • Hereditary motor and sensory neuropathy
  • Mitofusin 2
  • Myelin protein zero
  • Peripheral myelin protein 22

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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