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October 2019; 5 (5) ArticleOpen Access

Epidemiology of DYT1 dystonia

Estimating prevalence via genetic ascertainment

Joseph Park, Scott M. Damrauer, Aris Baras, Jeffrey G. Reid, John D. Overton, Pedro Gonzalez-Alegre
First published September 13, 2019, DOI: https://doi.org/10.1212/NXG.0000000000000358
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Article Information

vol. 5 no. 5 e358
DOI: 
https://doi.org/10.1212/NXG.0000000000000358
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received June 4, 2019
  • Accepted in final form August 2, 2019
  • First Published September 13, 2019.
Copyright & Usage: 
Copyright © 2019 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. Joseph Park, AB,
    2. Scott M. Damrauer, MD,
    3. Aris Baras, MD, MBA,
    4. Jeffrey G. Reid, PhD,
    5. John D. Overton, PhD and
    6. Pedro Gonzalez-Alegre, MD, PhD
  1. Joseph Park, AB,
    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. National Human Genome Research Institute (NHGRI) of the National Institutes of Health, Award Number F30HG010442, 2019- 2022

    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. Scott M. Damrauer, MD,
    3. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. (1) Novel targets for therapeutic manipulation to treat HDL-C, triglycerides and coronary disease and (2) novel targets for therapeutic manipulation to treat abdominal aortic aneurysms

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. (1) Spouse consulting for Rhythm Pharmaceuticals; (2) Spouse consulting for Reata

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. (1) RenalytixAI, (2) CytoVas, LLC

    Research Support, Government Entities:

    1. (1) U.S. Department of Veterans Affairs, Clinical Science Research and Development, IK2-CX00178-01, PI, 2018-current, (2) National Heart Lung Blood Institute, 1RO1HL138306-01A1, co-investigator, 2018-current; (3) U.S. Department of Veterans Affairs, Basic Science Research and Development, BX- 003362-62, co-investigator, 2017-current.

    Research Support, Academic Entities:

    1. (1) Vanderbilt University (2) Partners Healthcare

    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. Aris Baras, MD, MBA,
    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. Jeffrey G. Reid, PhD,
    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. Regeneron Pharmaceuticals, VP Genome Informatics, 6

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. Regeneron Pharmaceuticals

    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. Regeneron Pharmaceuticals

    Legal Proceedings:

    1. NONE

  5. John D. Overton, PhD and
    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. Regeneron Genetics Center, Vice President and Head of Sequencing and Lab Operations, 6 years

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. Regeneron Genetics Center/Regeneron Pharmaceuticals

    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. Regeneron Pharmaceuticals

    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. Pedro Gonzalez-Alegre, MD, PhD
    7. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. - American Academy of Neurology: honoraria as a speaker in Annual Meeting 2017 - Movement Disorders Society (Pan American Section): honoraria as a speaker in School for Young Neurologists 2017

    Editorial Boards:

    1. Academic Editor, PLoS One

    Patents:

    1. Patent on Allele-Specific Silencing for disease genes. Based on RNA interference. Licensed by the University of Iowa to Spark Therapeutics

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. - Consulting for Spark Therapeutics (contract pending execution) - Consulting for SAGE Therapeutics (contract pending execution)

    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. I received research grants from the US Department of Defense and the NIH/NINDS unrelated to this work.

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Research Grant for the Dystonia Medical Research Foundation Research Grant from the Clinical Consortium for X-linked Dystonia Parkinsonism

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License fee payments, Technology or Inventions:

    1. Licensing fees from Spark Therapeutics for

    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

  1. From the Department of Medicine (J.P.), University of Pennsylvania, Philadelphia; Department of Surgery (S.M.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Regeneron Genetics Center (A.B., J.G.R., J.D.O.), Tarrytown, NY; and Department of Neurology (P.G.-A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
  1. Correspondence
    Dr. Gonzalez-Alegre pedro.gonzalez-alegre{at}uphs.upenn.edu
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