A brief review of recent Charcot-Marie-Tooth research and priorities

Sean Ekins, Nadia K. Litterman, Renée J.G. Arnold, Robert W. Burgess, Joel S. Freundlich, Steven J. Gray, Joseph J. Higgins, Brett Langley, Dianna E. Willis, Lucia Notterpek, David Pleasure, Michael W. Sereda, Allison Moore

Research output: Contribution to journalReview article

18 Citations (Scopus)

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 It covers recent published and unpublished in vitro and in vivo research.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.

Original languageEnglish (US)
JournalF1000Research
Volume4
DOIs
StatePublished - Feb 26 2015

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Tooth
Research
Charcot-Marie-Tooth Disease
Stem Cell Research
Gene therapy
Mutation Rate
Rare Diseases
Gene Frequency
Genetic Therapy
Biomarkers
Stem cells
Animal Models
Quality of Life
Clinical Trials
Animals
Genes
Therapeutics

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Microbiology(all)
  • Pharmacology, Toxicology and Pharmaceutics(all)

Cite this

Ekins, S., Litterman, N. K., Arnold, R. J. G., Burgess, R. W., Freundlich, J. S., Gray, S. J., ... Moore, A. (2015). A brief review of recent Charcot-Marie-Tooth research and priorities. F1000Research, 4. https://doi.org/10.12688/f1000research.6160.1

A brief review of recent Charcot-Marie-Tooth research and priorities. / Ekins, Sean; Litterman, Nadia K.; Arnold, Renée J.G.; Burgess, Robert W.; Freundlich, Joel S.; Gray, Steven J.; Higgins, Joseph J.; Langley, Brett; Willis, Dianna E.; Notterpek, Lucia; Pleasure, David; Sereda, Michael W.; Moore, Allison.

In: F1000Research, Vol. 4, 26.02.2015.

Research output: Contribution to journalReview article

Ekins, S, Litterman, NK, Arnold, RJG, Burgess, RW, Freundlich, JS, Gray, SJ, Higgins, JJ, Langley, B, Willis, DE, Notterpek, L, Pleasure, D, Sereda, MW & Moore, A 2015, 'A brief review of recent Charcot-Marie-Tooth research and priorities', F1000Research, vol. 4. https://doi.org/10.12688/f1000research.6160.1
Ekins, Sean ; Litterman, Nadia K. ; Arnold, Renée J.G. ; Burgess, Robert W. ; Freundlich, Joel S. ; Gray, Steven J. ; Higgins, Joseph J. ; Langley, Brett ; Willis, Dianna E. ; Notterpek, Lucia ; Pleasure, David ; Sereda, Michael W. ; Moore, Allison. / A brief review of recent Charcot-Marie-Tooth research and priorities. In: F1000Research. 2015 ; Vol. 4.
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