136th ENMC International Workshop: Charcot-Marie-Tooth disease type 1A (CMT1A)8-10 April 2005, Naarden, The Netherlands.

摘要

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous inherited neuropathy, characterised by the cardinal clinical features of distal wasting, weakness and sensory loss with reduced tendon reflexes and variable foot deformity. CMT is classified by neurophysiol-ogy into the two major forms; CMT1 [median motor conduction velocity (MCV)<38 m/s] and CMT2 [median MCV>38 m/s]. In the last 15 years, there have been rapid advances in identifying the underlying genetic defects in CMT, especially in autosomal dominant (AD) CMT, which is the commonest form of CMT except in specific ethnic groups. The identification of a 1.4 Mb duplication of chromosome 17 containing the peripheral myelin protein 22 (CPMP22) gene as the predominant cause of AD CMT1 (CMT1 associated with the chromosome 17 duplication is termed CMT1A) and accounting for 70% of all cases of CMT1 was a major contribution to this area.