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Updated: May 1, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
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Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

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Charcot-Marie-Tooth disease and pathways to molecular based therapies

T Harel1, J R Lupski

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Clinical Genetics
|April 5, 2014
PubMed

Insights

Charcot-Marie-Tooth (CMT) disease research has advanced significantly since 1991, identifying over 40 subtypes. Ongoing molecular discoveries and new sequencing technologies promise improved understanding and diagnosis of these peripheral neuropathies.

Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Charcot-Marie-Tooth (CMT) disease is a group of inherited peripheral neuropathies affecting motor and sensory nerves.
  • The discovery of chromosome 17p12 duplication's association with CMT in 1991 initiated molecular investigations.
  • Over 40 CMT subtypes have been identified, with extensive research into underlying biological pathways.

Purpose of the Study:

  • To review the molecular advancements in understanding Charcot-Marie-Tooth (CMT) disease.
  • To highlight the impact of next-generation sequencing on CMT research and diagnostics.
  • To discuss the future prospects for CMT treatment based on molecular insights.

Main Methods:

  • Review of historical discoveries and molecular definitions of CMT subtypes.
  • Analysis of in vitro and animal model studies on CMT pathogenesis.
  • Evaluation of the role of next-generation sequencing in gene discovery and diagnosis.

Main Results:

  • Over 40 molecularly defined subtypes of CMT have been identified.
  • Research has elucidated key biological pathways involved in myelination and axonal function.
  • Next-generation sequencing is transforming genetic testing and molecular understanding of CMT.

Conclusions:

  • Molecular insights have greatly advanced the understanding of CMT disease.
  • Next-generation sequencing offers significant potential for improved diagnosis and research.
  • Anticipated advances in treatment are linked to the continued unraveling of CMT's molecular basis.
Keywords:
CMT1A duplicationCharcot-Marie-ToothSchwann cell dynamicsaxonal dysfunctionsymmetric distal polyneuropathywhole-exome sequencing

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