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Abstract

Objective

The continual discovery of disease-causing gene mutations has led to difficulties in the complex classification of Charcot-Marie-Tooth diseases (CMT) that needs to be revised.

Methods

We recently published a proposal to update the classification of inherited neuropathies. The reactions from colleagues prompted us to diffuse the proposal and ask people if they would be ready for such a change. We therefore performed an internet survey (from October 1, 2016, to December 1, 2016) that included more than 300 CMT worldwide specialists (practitioners and scientists) from various countries. A questionnaire (with proposals to update and simplify the way in which CMT is classified) was sent by e-mail to all participants in the last International Charcot-Marie-Tooth and Related Neuropathy Consortium meeting held in Venice, September 8–10, 2016 (as identified through an e-mail list).

Results

Of the 107 CMT specialists who answered the survey, 65% considered that changes are needed and that our proposals constituted an improvement over the historical classification of CMT.

Conclusions

Based on recent proposals in the medical literature, these results highlight that most specialists think that changes are needed to the classification of CMT.

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References

1.
Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: I: neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 1968;18:603–618.
2.
Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: II: neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch Neurol 1968;18:619–625.
3.
Mathis S, Goizet C, Tazir M, et al. Charcot-Marie-Tooth diseases: an update and some new proposals for the classification. J Med Genet 2015;52:681–690.
4.
Mathis S, Goizet C, Tazir M, Magy L, Vallat JM. Reasons Charcot-Marie-Tooth disease due to mutations in the MME gene should not be named AR-CMT2T. Ann Neurol 2016;80:477.
5.
Vallat JM, Goizet C, Magy L, Mathis S. Too many numbers and complexity: time to update the classifications of neurogenetic disorders? J Med Genet 2016;53:647–650.
6.
Vallat JM, Goizet C, Tazir M, Couratier P, Magy L, Mathis S. Classifications of neurogenetic diseases: an increasingly complex problem. Rev Neurol 2016;172:339–349.
7.
Magy L. A proposal for updating the classification of Charcot-Marie-Tooth diseases and related disorders. Presented at the 6th International Charcot-Marie-Tooth and Related Neuropathy Consortium (CMTR) Meeting; September 8–10, 2016; Venice-Mestre, Italy.
8.
Synofzik M, Schule R. Overcoming the divide between ataxias and spastic paraplegias: shared phenotypes, genes, and pathways. Mov Disord 2017;32:332–345.
9.
Beaudin M, Klein CJ, Rouleau GA, Dupre N. Systematic review of autosomal recessive ataxias and proposal for a classification. Cerebellum Ataxias 2017;4:3.
10.
Marras C, Lang A, van de Warrenburg BP, et al. Nomenclature of genetic movement disorders: recommendations of the International Parkinson and Movement Disorder Society Task Force. Mov Disord 2016;31:436–457.

Information & Authors

Information

Published In

Neurology®
Volume 90Number 10March 6, 2018
Pages: e870-e876
PubMed: 29429969

Publication History

Received: September 22, 2017
Accepted: December 4, 2017
Published online: February 2, 2018
Published in print: March 6, 2018

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Disclosure

The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.

Study Funding

No targeted funding reported.

Authors

Affiliations & Disclosures

Laurent Magy, MD, PhD
From the Department of Neurology (L.M., J.-M.V.), Centre de Référence Neuropathies Rares, CHU Limoges; Department of Neurology, Nerve-Muscle Unit (S.M., G.L.M.), and Department of Neurogenetics (C.G.), CHU Bordeaux (Pellegrin Hospital), France; and Department of Neurology (M.T.), CHU Mustapha Bacha, Algiers, Algeria.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
Pfizer SA, Pharnext, Sanofi Genzyme
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
CSL Behring Octapharma Biogen Terumo BCT
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Stéphane Mathis, MD, PhD
From the Department of Neurology (L.M., J.-M.V.), Centre de Référence Neuropathies Rares, CHU Limoges; Department of Neurology, Nerve-Muscle Unit (S.M., G.L.M.), and Department of Neurogenetics (C.G.), CHU Bordeaux (Pellegrin Hospital), France; and Department of Neurology (M.T.), CHU Mustapha Bacha, Algiers, Algeria.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Gwendal Le Masson, MD, PhD
From the Department of Neurology (L.M., J.-M.V.), Centre de Référence Neuropathies Rares, CHU Limoges; Department of Neurology, Nerve-Muscle Unit (S.M., G.L.M.), and Department of Neurogenetics (C.G.), CHU Bordeaux (Pellegrin Hospital), France; and Department of Neurology (M.T.), CHU Mustapha Bacha, Algiers, Algeria.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Cyril Goizet, MD, PhD
From the Department of Neurology (L.M., J.-M.V.), Centre de Référence Neuropathies Rares, CHU Limoges; Department of Neurology, Nerve-Muscle Unit (S.M., G.L.M.), and Department of Neurogenetics (C.G.), CHU Bordeaux (Pellegrin Hospital), France; and Department of Neurology (M.T.), CHU Mustapha Bacha, Algiers, Algeria.
Disclosure
Scientific Advisory Boards:
1.
(1) Amicus therapeutics (2) Sanofi Genzyme
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
(1)Sanofi Genzyme : speaker honoraria in several French Medical Society congress, travels in several conventions (Lysosome World Congress, AAN, ASHG) (2)Amicus Therapeutics : speaker honoraria in several conventions in France (3)Shire : speaker honoraria
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Meriem Tazir, MD, PhD
From the Department of Neurology (L.M., J.-M.V.), Centre de Référence Neuropathies Rares, CHU Limoges; Department of Neurology, Nerve-Muscle Unit (S.M., G.L.M.), and Department of Neurogenetics (C.G.), CHU Bordeaux (Pellegrin Hospital), France; and Department of Neurology (M.T.), CHU Mustapha Bacha, Algiers, Algeria.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Jean-Michel Vallat, MD
From the Department of Neurology (L.M., J.-M.V.), Centre de Référence Neuropathies Rares, CHU Limoges; Department of Neurology, Nerve-Muscle Unit (S.M., G.L.M.), and Department of Neurogenetics (C.G.), CHU Bordeaux (Pellegrin Hospital), France; and Department of Neurology (M.T.), CHU Mustapha Bacha, Algiers, Algeria.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
French Minister of Health as a reference center for rare peripheral neuropathies : 2006 to now
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE

Notes

Correspondence Dr. Magy [email protected]
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

Author Contributions

Laurent Magy: study concept and design, acquisition and interpretation of data. Stéphane Mathis: drafting of the manuscript. Gwendal Le Masson: critical revision of the manuscript. Cyril Goizet: critical revision of the manuscript. Meriem Tazir: critical revision of the manuscript. Jean-Michel Vallat: study concept and design and critical revision of the manuscript.

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