RT Journal Article
SR Electronic
T1 Charcot–Marie–Tooth diseases: an update and some new proposals for the classification
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 681
OP 690
DO 10.1136/jmedgenet-2015-103272
VO 52
IS 10
A1 Stéphane Mathis
A1 Cyril Goizet
A1 Meriem Tazir
A1 Corinne Magdelaine
A1 Anne-Sophie Lia
A1 Laurent Magy
A1 Jean-Michel Vallat
YR 2015
UL http://jmg.bmj.com/content/52/10/681.abstract
AB Background Charcot–Marie–Tooth (CMT) disease, the most frequent form of inherited neuropathy, is a genetically heterogeneous group of disorders of the peripheral nervous system, but with a quite homogeneous clinical phenotype (progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss and usually decreased tendon reflexes). Our aim was to review the various CMT subtypes identified at the present time.Methods We have analysed the medical literature and performed a historical retrospective of the main steps from the individualisation of the disease (at the end of the nineteenth century) to the recent knowledge about CMT.Results To date, >60 genes (expressed in Schwann cells and neurons) have been implicated in CMT and related syndromes. The recent advances in molecular genetic techniques (such as next-generation sequencing) are promising in CMT, but it is still useful to recognise some specific clinical or pathological signs that enable us to validate genetic results. In this review, we discuss the diagnostic approaches and the underlying molecular pathogenesis.Conclusions We suggest a modification of the current classification and explain why such a change is needed.