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October 2016; 2 (5) ArticleOpen Access

MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)

Chantal Depondt, Simona Donatello, Myriam Rai, François Charles Wang, Mario Manto, Nicolas Simonis, Massimo Pandolfo
First published August 18, 2016, DOI: https://doi.org/10.1212/NXG.0000000000000094
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Article Information

vol. 2 no. 5 e94
DOI: 
https://doi.org/10.1212/NXG.0000000000000094
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received May 7, 2016
  • Accepted in final form July 1, 2016
  • First Published August 18, 2016.
Copyright & Usage: 
© 2016 American Academy of Neurology This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially.

Author Disclosures

    1. Chantal Depondt, MD, PhD,
    2. Simona Donatello, PhD,
    3. Myriam Rai, PhD,
    4. François Charles Wang, MD,
    5. Mario Manto, MD, PhD,
    6. Nicolas Simonis, PhD and
    7. Massimo Pandolfo, MD
  1. Chantal Depondt, MD, PhD,
    2. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. BMC Neurology, Associate Editor, since 2011

    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. UCB

    Research Support, Government Entities:

    1. EU Fp7 grant nr 279062,

    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

  2. Simona Donatello, PhD,
    3. 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

  3. Myriam Rai, PhD,
    4. 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

  4. François Charles Wang, MD,
    5. 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

  5. Mario Manto, MD, PhD,
    6. Scientific Advisory Boards:

    1. Editor of The Cerebellum (Springer) Editor of Cerebellum and Ataxias (BioMed Central) Deputy Editor of Journal of NeuroEngineering and Rehabilitation (BioMed Central)

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Editor of The Cerebellum (Springer) Editor of Cerebellum and Ataxias (BioMed Central) Deputy Editor of Journal of NeuroEngineering and Rehabilitation (BioMed Central)

    Patents:

    1. NONE

    Publishing Royalties:

    1. Royalties from several books: -The Cerebellum and Its Disorders.Cambridge University Press, Cambridge, UK, 2002 Edited by Manto Mario and Pandolfo Massimo?$Physiologie et Physiopathologie Humaine. Des Principes de Physiologie ? la Clinique. Sauramps M?dical, France, 2012 Abramowicz M, Crenier L, Driessens N, Hougardy JM, Karmali R, Legrand A, Lemogoum D, Lemoine A, Louis H, Massart A, Preumont . Coordinated by Manto Mario. -Le Cervelet. De l'Anatomie et la Physiologie ? la Clinique Humaine. Springer France, Paris, 2013 Authors: Manto Mario and Christophe Habas -The Linguistic Cerebellum, Elsevier, 2015 Edited by Peter Mari?n and Mario Manto

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. I have a research grant just starting with Guerbet France on gadolinium

    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. My salary comes from the FNRS Belgium

    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

  6. Nicolas Simonis, PhD and
    7. 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. Belgian Fonds National de la recherche Scientifique

    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

  7. Massimo Pandolfo, MD
    8. Scientific Advisory Boards:

    1. (1) Apopharma, DSMB (2) Voyager Therapeutics, Scientific Advisory Board

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1) Acta Neurologica Belgica, Editorial Board Member, 2011- (2) Orphanet Journal of Rare Diseases, Editorial Board Member, 2013- (3) Neurology Genetics, Associate Editor, 2015-

    Patents:

    1. (1) Direct molecular diagnosis of Friedreich?s ataxia. M. Pandolfo, L. Montermini, M.D. L. Molto, M. Koenig, V. Campuzano, M. Cossee. US patent (2000) 6, 150, 091, WO patent (1997) 9705234.

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. (1) Biomarin

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. (1) Biomarin

    Research Support, Government Entities:

    1. (1) Fonds National de la Recherche Scientifique (Belgium)

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. (1) Offrez-moi-la-lune (2) Friedreich's Ataxia Research Alliance (3) Association Belge contre les Maladies neuro-Musculaires

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. (1) Friedreich's ataxia diagnostic test, Athena Diagnostics, since 1997

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  1. From the Department of Neurology (C.D., M.M., M.P.), Department of Medical Genetics (N.S.), Hôpital Erasme, Laboratory of Experimental Neurology (C.D., S.D., M.R., M.M.), Université Libre de Bruxelles; Department of Physical Medicine and Rehabilitation (F.C.W.), University of Liège, University Hospital; and Fonds National de la Recherche Scientifique (M.M.), Brussels, Belgium.
  1. Correspondence to Dr. Pandolfo: massimo.pandolfo{at}ulb.ac.be
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