Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.

Authors

Paige B Martin, The Jackson LaboratoryFollow
Amy N Hicks, The Jackson LaboratoryFollow
Sarah E Holbrook, The Jackson LaboratoryFollow
Gregory A. Cox, The Jackson LaboratoryFollow

Document Type

Article

Publication Date

1-15-2020

Keywords

JMG

JAX Source

Brain Res 2020 Jan 15; 1727:146532

Volume

1727

First Page

146532

Last Page

146532

ISSN

1872-6240

PMID

31678418

DOI

https://doi.org/10.1016/j.brainres.2019.146532

Grant

NS102414,GM132006,SIMS Family Fund

Abstract

Charcot-Marie-Tooth (CMT) disease is a progressive and heterogeneous inherited peripheral neuropathy. A myriad of genetic factors have been identified that contribute to the degeneration of motor and sensory axons in a length-dependent manner. Emerging biological themes underlying disease include defects in axonal trafficking, dysfunction in RNA metabolism and protein homeostasis, as well deficits in the cellular stress response. Moreover, genetic contributions to CMT can have overlap with other neuropathies, motor neuron diseases (MNDs) and neurodegenerative disorders. Recent progress in understanding the molecular biology of CMT and overlapping syndromes aids in the search for necessary therapeutic targets.

Comments

The authors would like to thank Jenn Stauffer for her careful review and insightful editing of the manuscript.

Recommended Citation

Martin P, Hicks A, Holbrook S, Cox GA. Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases. Brain Res 2020 Jan 15; 1727:146532