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Neurologist. 2004 Nov;10(6):327-37.

Charcot-Marie-Tooth disease (hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies.

Author information

  • 1Department of Neurology, College of Medicine, University of Tennessee, Wesley Neurology Clinic, 1211 Union Avenue #400, Memphis, TN 38104, USA. tbertorini@aol.com

Abstract

BACKGROUND:

Since the description of Charcot-Marie-Tooth disease over a century ago. it has now been recognized that these conditions are not caused by generalized metabolic defects but rather have various discrete genetic origins. These disorders can also have variable phenotypes due to dysfunction of peripheral nerve axons or their myelin due to the genetic defects that affect the formation of specific nerve proteins.

REVIEW SUMMARY:

This article summarizes the clinical presentation of various phenotypes of the hereditary motor sensory neuropathies and the hereditary sensory and autonomic neuropathies, genetic mutations, and their relevant protein products. Proper identification of the genetic defects provides the opportunity for better genetic counseling and hopefully therapies in the future.

PMID:
15518599
[PubMed - indexed for MEDLINE]
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