Progress in clinical neurosciences: Charcot-Marie-Tooth disease and related inherited peripheral neuropathies

Citation
Tj. Benstead et Ia. Grant, Progress in clinical neurosciences: Charcot-Marie-Tooth disease and related inherited peripheral neuropathies, CAN J NEUR, 28(3), 2001, pp. 199-214
Citations number
159
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
ISSN journal
03171671 → ACNP
Volume
28
Issue
3
Year of publication
2001
Pages
199 - 214
Database
ISI
SICI code
0317-1671(200108)28:3<199:PICNCD>2.0.ZU;2-5
Abstract
The classification of Charcot-Marie-Tooth disease and related hereditary mo tor and sensory neuropathies has evolved to incorporate clinical, electroph ysiological and burgeoning molecular genetic information that characterize the many disorders. For several inherited neuropathies, the gene product ab normality is known and for others, candidate genes have been identified. Ge netic testing can pinpoint a specific inherited neuropathy for many patient s. However, clinical and electrophysiological assessments continue to be es sential tools for diagnosis and management of this disease group. This arti cle reviews clinical, electrophysiological, pathological and molecular aspe cts of hereditary motor and sensory neuropathies.