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December 2016; 2 (6) Clinical/Scientific NotesOpen Access

Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic

Anne-Katrin Pröbstel, André Schaller, Johanna Lieb, Juergen Hench, Stephan Frank, Peter Fuhr, Ludwig Kappos, Michael Sinnreich
First published November 17, 2016, DOI: https://doi.org/10.1212/NXG.0000000000000121
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Article Information

vol. 2 no. 6 e121
DOI: 
https://doi.org/10.1212/NXG.0000000000000121
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received July 12, 2016
  • Accepted in final form October 20, 2016
  • First Published November 17, 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 without permission from the journal.

Author Disclosures

    1. Anne-Katrin Pröbstel, MD,
    2. André Schaller, PhD,
    3. Johanna Lieb, MD,
    4. Juergen Hench, MD,
    5. Stephan Frank, MD,
    6. Peter Fuhr, MD,
    7. Ludwig Kappos, MD and
    8. Michael Sinnreich, MD, PhD
  1. Anne-Katrin Pröbstel, MD,
    2. Scientific Advisory Boards:

    1. Dr. Pr?bstel has served on the scientific advisory board of Bayer.

    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. Dr. Pr?bstel received research support from Genzyme.

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. Dr. Pr?bstel received research funding from University of Basel.

    Research Support, Foundations and Societies:

    1. Dr. Pr?bstel received research funding from the Swiss National Science Foundation.

    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. André Schaller, 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. (1)Novartis Foundation for medical-biological researchdiscussed your application nr. 16B130 ?Molecularcharacterisation of mitochondrial disorders?

    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. Johanna Lieb, MD,
    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. Juergen Hench, 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. Stephan Frank, MD,
    6. 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

  6. Peter Fuhr, MD,
    7. Scientific Advisory Boards:

    1. (1)General Electrics: Advisory Board (2)UCB: Advisory Board (3)Biogen: Advisory Board

    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. 30% Clinic for and research in Movement Disorders, University Hospital of Basel, Switzerland 50% Section of Clinical Neurophysiology (clinical application and Research), University Hospital of Basel, Switzerland 20% General Neurology and Administration, University Hospital of Basel, Switzerland

    Research Support, Commercial Entities:

    1. (1) Roche (2) AbbVie (3) General Electric (4) Biogen

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. (1) Swiss National Science Foundation

    Research Support, Foundations and Societies:

    1. (1) Synapsis Foundation; principle investigator; 2009-2011 (2) Gossweiler Foundation; principle investigator; 2011- 2012 (3) Botnar Foundation; principle investigator; 2012-2015 (4) Parkinson Association Switzerland; principle investigator, 2010-2012 (5) Parkinson Association Switzerland; principle investigator, 2013-2014 (6) Mach-Gaensslen Foundation; principle investigator, 2012-2014 (7) Gottfried and Julia Bangerter-Rhyner Foundation; principle investigator, 2013-2014

    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. Ludwig Kappos, MD and
    8. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1)Multiple Sclerosis Journal, (2)Multiple Sclerosis and Related Disorders (3)Journal of Neurology member of the Editorial Board

    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. (1)Actelion, (2)Alkermes, (3)Almirall, (4)Bayer, (5)Biogen, (6)Excemed, (7)GeNeuro SA, (8)Genzyme, (9)Merck, (10)Mitsubishi Pharma, (11)Novartis, (12)Receptos, (13)Roche, (14)sanofi-aventis, (15)Santhera, (16)Teva, (17)Vianex

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. (1)the Swiss MS Society, (2)the Swiss National Research Foundation, (3)the European Union, (4)Roche Research Foundations

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License fee payments, Technology or Inventions:

    1. (1) license fees for Neurostatus products paid directly to University Hospital Basel

    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

  8. Michael Sinnreich, MD, PhD
    9. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Institution received speaker honoraria from Novartis and Mepha for CME activities, which were used exclusively for research support.

    Editorial Boards:

    1. Acta Myologica, Editorial board

    Patents:

    1. A method for evaluating a candidate compound for treating Myotonic Dystrophy type 1 (DM1).

    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. University Hospital Basel, Neurology Clinic and Neuromuscular Research, 100% effort, 2009 - present

    Research Support, Commercial Entities:

    1. Institution received research support from CSL Behring and Roche

    Research Support, Government Entities:

    1. Swiss National Science Foundation, grant number 31003A_146359, principal investigator

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. (1) Gebert-Ruef Foundation (2) Uniscientia Foundation (3) Neuromuscular Research Association Basel (4) Myosuisse

    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. Novartis, 2014 - 2016 Roche, 2014 - 2015, March

    Legal Proceedings:

    1. NONE

  1. From the Neurologic Clinic and Policlinic (A.-K.P., P.F., L.K., M.S.), Departments of Medicine and Biomedicine; Division of Neuroradiology (J.L.), Department of Radiology; and Division of Neuropathology (J.H., S.F.), Department of Pathology, University Hospital Basel, University of Basel, Switzerland; Division of Human Genetics (A.S.), Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland.
  1. Correspondence to Dr. Sinnreich: Michael.Sinnreich{at}usb.ch
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