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Original article
Charcot–Marie–Tooth diseases: an update and some new proposals for the classification
  1. Stéphane Mathis1,2,
  2. Cyril Goizet3,
  3. Meriem Tazir4,
  4. Corinne Magdelaine5,
  5. Anne-Sophie Lia5,
  6. Laurent Magy2,
  7. Jean-Michel Vallat2
  1. 1Department of Neurology, University Hospital, Poitiers, France
  2. 2Department of Neurology (National Reference Center “Neuropathies Périphériques Rares”), University Hospital Dupuytren, Limoges, France
  3. 3Department of Medical Genetics, University Hospital (CHU Pellegrin), Bordeaux, France
  4. 4Department of Neurology, University Hospital Mustapha Bacha, Algiers, Algeria
  5. 5Department of Genetics, University Hospital, Limoges, France
  1. Correspondence to Professor Jean-Michel Vallat, Department of Neurology, Centre de référence “Neuropathies périphériques rares”, University hospital, 2 Avenue Martin Luther King, Limoges 87042, France; jean-michel.vallat{at}unilim.fr

Abstract

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.

  • Neuromuscular disease
  • Neurology
  • Peripheral nerve disease

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