Share

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
Full PDF
Citation
Permissions

Make Comment

See Comments

Downloads
144

Share

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
View Full Text

Article usage

Article usage: January 2018 to February 2019

AbstractFullPdfSource
Jan 2018016719Highwire
Feb 2018024341Highwire
Mar 2018050613Highwire
Apr 20180506Highwire
May 201801029Highwire
Jun 201801164Highwire
Jul 201801076Highwire
Aug 2018111410Highwire
Sep 201801916Highwire
Oct 201802173Highwire
Nov 201802242Highwire
Dec 2018025513Highwire
Jan 20191645Highwire
Feb 20193477Highwire

Letters: Rapid online correspondence

No comments have been published for this article.
Comment

NOTE: All contributors' disclosures must be entered and current in our database before comments can be posted. Enter and update disclosures at http://submit.ng.neurology.org. Exception: replies to comments concerning an article you originally authored do not require updated disclosures.

  • Stay timely. Submit only on articles published within the last 8 weeks.
  • Do not be redundant. Read any comments already posted on the article prior to submission.
  • 200 words maximum.
  • 5 references maximum. Reference 1 must be the article on which you are commenting.
  • 5 authors maximum. Exception: replies can include all original authors of the article.
  • Submitted comments are subject to editing and editor review prior to posting.

More guidelines and information on Letters

Compose Comment

More information about text formats

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
NOTE: The first author must also be the corresponding author of the comment.
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g. higgs-boson@gmail.com
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Publishing Agreement
NOTE: All authors, besides the first/corresponding author, must complete a separate Letters Submission Form and provide via email to the editorial office before comments can be posted.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Vertical Tabs

You May Also be Interested in

Back to top

Related Articles

  • No related articles found.

Topics Discussed

Alert Me

Advertisement