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
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.