CMT:Electrophysiology, molecular genetics and clinical management

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Abstract from IDrugs. 2004 Feb;7(2):151-9.

Charcot-Marie-Tooth disease: Electrophysiology, molecular genetics and

clinical management.

GT, England JD, Chance PF.

University of Washington School of Medicine, Department of

Rehabilitation Medicine, Seattle, WA 98531, USA.

Over the past decade there has been a huge increase in the understanding

of the molecular basis of Charcot-Marie-Tooth disease (CMT).

Additionally there has been a better delineation of the

neurophysiological deficits and clinical problems associated with CMT.

This paper reviews the current molecular basis of CMT and the

electrophysiological, clinical and phenotypical characteristics of the

various subtypes, followed by a discussion of novel and promising

therapeutic interventions that potentially could be used as part of a

treatment regimen for CMT. These interventions may involve attempts to

slow down or stop neurodegenerative processes through nerve growth

factors, limiting oxidative stress by using antioxidants, or normalizing

gene expression through genetic manipulation. Other potential

therapeutic target areas

include the progesterone receptor on myelin-forming Schwann cells, the

immune system via modulation of nerve inflammation, and enhancing

glutathione transferase activity. While ongoing molecular research

continues to identify more of the mutant genes and proteins that cause

the various disease subtypes, the focus of clinical research should

continue to be on developing pharmaceutical and rehabilitative therapies

to reverse nerve degeneration and ultimately improve the functioning of

people with CMT.