A brief review of recent Charcot-Marie-Tooth research and priorities. Review uri icon

Overview

abstract

  • This brief review of current research progress on Charcot-Marie-Tooth (CMT) disease is a summary of discussions initiated at the Hereditary Neuropathy Foundation (HNF) scientific advisory board meeting on November 7, 2014. It covers recent published and unpublished in vitro and in vivo research. We discuss recent promising preclinical work for CMT1A, the development of new biomarkers, the characterization of different animal models, and the analysis of the frequency of gene mutations in patients with CMT. We also describe how progress in related fields may benefit CMT therapeutic development, including the potential of gene therapy and stem cell research. We also discuss the potential to assess and improve the quality of life of CMT patients. This summary of CMT research identifies some of the gaps which may have an impact on upcoming clinical trials. We provide some priorities for CMT research and areas which HNF can support. The goal of this review is to inform the scientific community about ongoing research and to avoid unnecessary overlap, while also highlighting areas ripe for further investigation. The general collaborative approach we have taken may be useful for other rare neurological diseases.

publication date

  • February 26, 2015

Identity

PubMed Central ID

  • PMC4392824

Scopus Document Identifier

  • 53949085980

Digital Object Identifier (DOI)

  • 10.1016/j.febslet.2008.09.040

PubMed ID

  • 25901280

Additional Document Info

volume

  • 4