Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.

Stéphane Mathis, Cyril Goizet, Meriem Tazir, Corinne Magdelaine, Anne-Sophie Lia, Laurent Magy, Jean-Michel Vallat
J Med Genet. 2015-08-05; 52(10): 681-690
DOI: 10.1136/jmedgenet-2015-103272

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1. J Med Genet. 2015 Oct;52(10):681-90. doi: 10.1136/jmedgenet-2015-103272. Epub
2015 Aug 5.

Charcot-Marie-Tooth diseases: an update and some new proposals for the
classification.

Mathis S(1), Goizet C(2), Tazir M(3), Magdelaine C(4), Lia AS(4), Magy L(5),
Vallat JM(5).

Author information:
(1)Department of Neurology, University Hospital, Poitiers, France Department of
Neurology (National Reference Center « Neuropathies Périphériques Rares »),
University Hospital Dupuytren, Limoges, France.
(2)Department of Medical Genetics, University Hospital (CHU Pellegrin), Bordeaux,
France.
(3)Department of Neurology, University Hospital Mustapha Bacha, Algiers, Algeria.
(4)Department of Genetics, University Hospital, Limoges, France.
(5)Department of Neurology (National Reference Center « Neuropathies Périphériques
Rares »), University Hospital Dupuytren, Limoges, France.

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.

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DOI: 10.1136/jmedgenet-2015-103272
PMID: 26246519 [Indexed for MEDLINE]

Auteurs Bordeaux Neurocampus