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February 2018; 4 (1) Clinical/Scientific NotesOpen Access

Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy

Ricardo H. Roda, Brett A. McCray, Christopher J. Klein, Ahmet Hoke
First published January 24, 2018, DOI: https://doi.org/10.1212/NXG.0000000000000220
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Article Information

vol. 4 no. 1 e220
DOI: 
https://doi.org/10.1212/NXG.0000000000000220
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received August 8, 2017
  • Accepted in final form December 12, 2017
  • First Published January 24, 2018.
Copyright & Usage: 
Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the 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. Ricardo H. Roda, MD, PhD,
    2. Brett A. McCray, MD, PhD,
    3. Christopher J. Klein, MD and
    4. Ahmet Hoke, MD, PhD
  1. Ricardo H. Roda, MD, PhD,
    2. 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. This work was supported by the Intramural Research Program of the National Institute of Neurological Disorders and Stroke, National Institutes of Health. Stock/Stock Options, Medical Equipment & Materials: This work was supported by the Intramural Research Program of the National Institute of Neurological Disorders and Stroke, National Institutes of Health.

    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. Brett A. McCray, MD, 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. 1) NIH/Inherited Neuropathy Consortium, U54NS065712, PI, 9/1/2016-8/31/2018

    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. Christopher J. Klein, MD and
    4. Scientific Advisory Boards:

    1. I sit on the CMTA research and therapeutics board a non-profit patient support group.

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Neuromuscular editorial board for Neurology

    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. Mayo Clinic Research Grant

    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. Ahmet Hoke, MD, PhD
    5. Scientific Advisory Boards:

    1. 1. Non-profit: Foundation for Peripheral Neuropathy; Scientific Advisory Board

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Editor-in-Chief, Experimental Neurology Associate editor, Annals of Clinical Translational Neurology

    Patents:

    1. 1. Patent for the use of ethoxyquin to prevent neuropathy 2. Patent for electro spun fiber mesh to help nerve regeneration

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. Johns Hopkins University, Professor

    Consultancies:

    1. (1) Neurocrine Inc.

    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. NIH R01 NS091260 (role: PI); MSCRF MSCRFI-0715 (role: PI); NSF DMR- 1410240 (role: co-investigator); DOD OR160032 (role: PI)

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Foundation for peripheral neuropathy The Dr. Miriam and Sheldon G. Adelson Medical Research 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. National Vaccine Injury Program: gave expert testimony on GBS Arnold & Porter Kaye Scholer LLP: gave expert testimony on peripheral neuropathy

  1. From the Department of Neurology (R.H.R., B.A.M., A.H.), Johns Hopkins University School of Medicine, Baltimore, MD; and Department of Neurology (C.J.K.), Mayo Clinic, Rochester, MN.
  1. Correspondence
    Dr. Roda: rroda1{at}jhmi.edu
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