title: Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.
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.
authors.affiliation: Department of Neurology, University Hospital, Poitiers, France Department of Neurology (National Reference Center "Neuropathies Périphériques Rares"), University Hospital Dupuytren, Limoges, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Mathis
authors.affiliation: Department of Medical Genetics, University Hospital (CHU Pellegrin), Bordeaux, France.
authors.forename: Cyril
authors.initials: C
authors.lastname: Goizet
authors.affiliation: Department of Neurology, University Hospital Mustapha Bacha, Algiers, Algeria.
authors.forename: Meriem
authors.initials: M
authors.lastname: Tazir
authors.affiliation: Department of Genetics, University Hospital, Limoges, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Magdelaine
authors.affiliation: Department of Genetics, University Hospital, Limoges, France.
authors.forename: Anne-Sophie
authors.initials: AS
authors.lastname: Lia
authors.affiliation: Department of Neurology (National Reference Center "Neuropathies Périphériques Rares"), University Hospital Dupuytren, Limoges, France.
authors.forename: Laurent
authors.initials: L
authors.lastname: Magy
authors.affiliation: Department of Neurology (National Reference Center "Neuropathies Périphériques Rares"), University Hospital Dupuytren, Limoges, France.
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Vallat
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D015870:Gene Expression; D005820:Genetic Testing; D006801:Humans; D009474:Neurons / Q000378:metabolism; D012189:Retrospective Studies; D012583:Schwann Cells / Q000378:metabolism
keywords: Neurology; Neuromuscular disease; Peripheral nerve disease