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PROGRESS IN CLINICAL NEUROSCIENCES: Charcot-Marie-Tooth Disease and Related Inherited Peripheral Neuropathies

Published online by Cambridge University Press:  02 December 2014

Timothy J. Benstead  and
Ian A. Grant
Timothy J. Benstead
Affiliation:
Division of Neurology, QEII Health Sciences Centre and Dalhousie, University Medical School, Halifax, Nova Scotia, Canada
Ian A. Grant
Affiliation:
Division of Neurology, QEII Health Sciences Centre and Dalhousie, University Medical School, Halifax, Nova Scotia, Canada
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Abstract

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The classification of Charcot-Marie-Tooth disease and related hereditary motor and sensory neuropathies has evolved to incorporate clinical, electrophysiological and burgeoning molecular genetic information that characterize the many disorders. For several inherited neuropathies, the gene product abnormality is known and for others, candidate genes have been identified. Genetic testing can pinpoint a specific inherited neuropathy for many patients. However, clinical and electrophysiological assessments continue to be essential tools for diagnosis and management of this disease group. This article reviews clinical, electrophysiological, pathological and molecular aspects of hereditary motor and sensory neuropathies.

Résumé:

RÉSUMÉ:

La classification de la maladie de Charcot-Marie-Tooth et des neuropathies sensitivo-motrices hé;ré;ditaires apparenté;es a é;té; é;largie afin d'inclure l'information clinique, é;lectrophysiologique et molé;culaire qui caracté;rise ces entité;s. L'anomalie du gène et de la proté;ine en cause est connue dans plusieurs neuropathies hé;ré;ditaires alors que dans d'autres des gènes candidats ont é;té; identifié;s. Chez plusieurs patients, des tests gé;né;tiques peuvent identifier une neuropathies hé;ré;ditaire spé;cifique. Cependant, l'é;valuation clinique et é;lectrophysiologique demeure l'outil essentiel pour le diagnostic et la prise en charge de ce groupe de maladies. Cet article revoit les aspects cliniques, é;lectrophysiologiques, anatomopathologiques et molé;culaires des neuropathies sensitivo-motrices.

Type
Review Article
Information
Canadian Journal of Neurological Sciences , Volume 28 , Issue 3 , August 2001 , pp. 199 - 214
Copyright
Copyright © The Canadian Journal of Neurological 2001

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