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Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis

Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era... The observation that inherited demyelinating neuropathies have uniform conduction slowing and that acquired disorders have nonuniform or multifocal slowing was made prior to the identification of mutations in myelin‐specific genes which cause many of the inherited disorders involving peripheral nerve myelin. It is now clear that the electrophysiological aspects of these disorders are more complex than previously realized. Specifically, certain mutations appear to induce nonuniform slowing of conduction which resemble the findings in acquired demyelinating neuropathies. It is clinically important to recognize the different electrodiagnostic patterns of the various inherited demyelinating neuropathies. In addition, an understanding of the relationship between mutations of specific genes and their associated neurophysiological findings is likely to facilitate understanding of the role of these myelin proteins in peripheral nerve function and of how abnormalities in myelin proteins lead to neuropathy. We therefore review the current information on the electrophysiological features of the inherited demyelinating neuropathies in hopes of clarifying their electrodiagnostic features and to shed light on the physiological consequences of the different genetic mutations. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 1472–1487, 2000 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Muscle and Nerve Wiley

Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis

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References (123)

Publisher
Wiley
Copyright
Copyright © 2000 John Wiley & Sons, Inc.
ISSN
0148-639X
eISSN
1097-4598
DOI
10.1002/1097-4598(200010)23:10<1472::AID-MUS3>3.0.CO;2-#
Publisher site
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Abstract

The observation that inherited demyelinating neuropathies have uniform conduction slowing and that acquired disorders have nonuniform or multifocal slowing was made prior to the identification of mutations in myelin‐specific genes which cause many of the inherited disorders involving peripheral nerve myelin. It is now clear that the electrophysiological aspects of these disorders are more complex than previously realized. Specifically, certain mutations appear to induce nonuniform slowing of conduction which resemble the findings in acquired demyelinating neuropathies. It is clinically important to recognize the different electrodiagnostic patterns of the various inherited demyelinating neuropathies. In addition, an understanding of the relationship between mutations of specific genes and their associated neurophysiological findings is likely to facilitate understanding of the role of these myelin proteins in peripheral nerve function and of how abnormalities in myelin proteins lead to neuropathy. We therefore review the current information on the electrophysiological features of the inherited demyelinating neuropathies in hopes of clarifying their electrodiagnostic features and to shed light on the physiological consequences of the different genetic mutations. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 1472–1487, 2000

Journal

Muscle and Nerve – Wiley

Published: Oct 1, 2000

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