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Charcot-Marie-Tooth Disease and Related Genetic Neuropathies

Patzko, Agnes MD; Shy, Michael E. MD

CONTINUUM: Lifelong Learning in Neurology:
doi: 10.1212/01.CON.0000411567.34085.da
Review Articles

Purpose of Review: The inherited peripheral neuropathies are a complex group of disorders caused by mutations in more than 50 genes. Scientifically, these disorders provide extensive information on molecular pathways that cause demyelination, axonal loss, and abnormal interactions between Schwann cells and the axons they ensheathe. Clinically, however, these neuropathies are confusing because it is difficult to determine what gene to test for in a given patient, inheritance patterns may differ among patients, and genetic testing is expensive. This review provides a biological context and guidelines to help neurologists better understand the basis and focus of genetic testing for these disorders.

Recent Findings: In the past 5 years, many of the genetic causes of inherited neuropathies have been discovered and the phenotypes of inherited neuropathies have been characterized. Clinical trials of genetic neuropathies are now underway.

Summary: It is hoped that this review will lead to a better understanding of these fascinating neuropathies for health care professionals and that this improved understanding will facilitate treatment advances for these presently untreatable diseases.

Author Information

Address correspondence to Dr Michael E. Shy, Department of Neurology, Wayne State University School of Medicine, 4201 Saint Antoine Street, Detroit, MI 48201,

Relationship Disclosure: Dr Patzko reports no disclosure. Dr Shy has received research funding from the NIH, the Muscular Dystrophy Association, and the Charcot-Marie-Tooth Association.

Unlabeled Use of Products/Investigational Use Disclosure: Drs Patzko and Shy report no disclosure.

© 2012 American Academy of Neurology