Precis Future Med.  2019 Jun;3(2):43-68. 10.23838/pfm.2018.00163.

Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

• Nam SH
• Choi BO

• KMID: 2469528
• DOI: http://doi.org/10.23838/pfm.2018.00163

Abstract

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies and is both genetically and clinically heterogeneous, with variable inheritance modes. With regard to clinical and genetic aspects, CMT is divided into several subtypes, including CMT1, CMT2, CMT3, CMT4, CMT5, CMT6, X-linked CMT, and intermediate CMT. Up to date, more than 90 causative genes for CMT have been identified. Furthermore, previous animal studies reported some molecules to have therapeutic effects on specific CMT subtypes, depending on the underlying genetic cause. Therefore, accurate genetic diagnosis is of crucial importance when performing customized therapy. Finally, recent investigations on induced pluripotent stem cells expanded the possibility of both patient-specific cell therapy and drug discovery. The current review focuses on the latest classification updates for accurate CMT diagnosis.

Keyword

Charcot-Marie-Tooth disease; Classification; Diagnosis; Genes; Mutation

MeSH Terms

Animals
Cell- and Tissue-Based Therapy
Charcot-Marie-Tooth Disease*
Classification
Diagnosis
Drug Discovery
Induced Pluripotent Stem Cells
Therapeutic Uses
Wills
Therapeutic Uses