Charcot-Marie-Tooth disease: an update

Michael E Shy

doi:10.1097/00019052-200410000-00008

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Journal article

Peer reviewed

Charcot-Marie-Tooth disease: an update

Michael E Shy

Current opinion in neurology, Vol.17(5), pp.579-585

10/2004

DOI: 10.1097/00019052-200410000-00008

PMID: 15367862

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Abstract

The purpose of this review is to assist neurologists, neuroscientists and other interested readers in following the expanding volume of information relating to the inherited peripheral neuropathies collectively referred to as Charcot-Marie-Tooth disease. Currently, mutations in multiple different genes expressed in Schwann cells and neurons cause a variety of overlapping clinical phenotypes. Recent articles clarify molecular pathways involved in the pathogenesis of these disorders, and for the first time provide rational treatment strategies for the most common form of Charcot-Marie-Tooth disease. The identification of many new genes associated with neuropathy demonstrate the role of axonal transport and abnormal protein trafficking in causing various forms of Charcot-Marie-Tooth. They also further define the role of axonal signaling and the molecular architecture of both Schwann cells and neurons in maintaining normal peripheral nervous system function. Finally, recent reports have shown that progesterone antagonists and ascorbic acid can successfully treat rodent models of Charcot-Marie-Tooth disease type 1A. Taken together, results from these articles support the concept that genetic causes of Charcot-Marie-Tooth disease serve as a living microarray system to identify molecules necessary for normal peripheral nervous system function. When we can make sense of these microarrays we are likely to understand the pathogenesis and develop rational therapies for many neurodegenerative diseases including Charcot-Marie-Tooth.

GTP Phosphohydrolases

Humans

Glycine-tRNA Ligase - genetics

Protein Transport - physiology

Protein Tyrosine Phosphatases - metabolism

rab GTP-Binding Proteins - genetics

Mitochondrial Proteins - genetics

Charcot-Marie-Tooth Disease - genetics

Heat-Shock Proteins - genetics

Protein Tyrosine Phosphatases - genetics

Ascorbic Acid - therapeutic use

Mitochondrial Proteins - metabolism

Nerve Fibers, Myelinated - pathology

Membrane Proteins - metabolism

Nuclear Proteins - genetics

Nerve Fibers, Myelinated - metabolism

rab GTP-Binding Proteins - metabolism

Membrane Proteins - genetics

Progesterone - antagonists & inhibitors

Heat-Shock Proteins - metabolism

Axonal Transport - physiology

Nuclear Proteins - metabolism

Schwann Cells - pathology

Schwann Cells - metabolism

Charcot-Marie-Tooth Disease - drug therapy

Glycine-tRNA Ligase - metabolism

Transcription Factors - genetics

Charcot-Marie-Tooth Disease - pathology

Protein Tyrosine Phosphatases, Non-Receptor

Myelin Proteins - genetics

Transcription Factors - metabolism

Animals

Charcot-Marie-Tooth Disease - physiopathology

Myelin Proteins - metabolism

Details

Title: Subtitle: Charcot-Marie-Tooth disease: an update
Creators: Michael E Shy - Department of Neurology, Wayne State University, School of Medicine, Detroit, Michigan 48201, USA. m.shy@wayne.edu
Resource Type: Journal article
Publication Details: Current opinion in neurology, Vol.17(5), pp.579-585
Publisher: England
DOI: 10.1097/00019052-200410000-00008
PMID: 15367862
ISSN: 1350-7540
eISSN: 1473-6551
Language: English
Date published: 10/2004
Academic Unit: Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
Record Identifier: 9984020993602771

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