Conference proceeding
Electrophysiological features of inherited demyelinating neuropathies : A reappraisal in the era of molecular diagnosis
Muscle & nerve, Vol.23(10), pp.1472-1487
American Association of Electrodiagnostic Medicine. Annual Scientific Meeting
2000
DOI: 10.1002/1097-4598(200010)23:10<1472::AID-MUS3>3.0.CO;2-#
PMID: 11003782
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.
Details
- Title: Subtitle
- Electrophysiological features of inherited demyelinating neuropathies : A reappraisal in the era of molecular diagnosis
- Creators
- Richard A LEWIS - Department of Neurology, Wayne State University School of Medicine, UHC 8D, 4201 St. Antoine, Detroit, Michigan, United StatesAustin J SUMNER - Department of Neurology, Louisiana State University Medical Center, New Orleans, Louisiana, United StatesMichael E SHY - Department of Neurology, Wayne State University School of Medicine, UHC 8D, 4201 St. Antoine, Detroit, Michigan, United States
- Resource Type
- Conference proceeding
- Publication Details
- Muscle & nerve, Vol.23(10), pp.1472-1487
- Conference
- American Association of Electrodiagnostic Medicine. Annual Scientific Meeting
- Publisher
- Wiley; New York, NY
- DOI
- 10.1002/1097-4598(200010)23:10<1472::AID-MUS3>3.0.CO;2-#
- PMID
- 11003782
- ISSN
- 0148-639X
- eISSN
- 1097-4598
- Grant note
- American Association of Electrodiagnostic Medicine
- Language
- English
- Date published
- 2000
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984020851002771
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