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August 2021; 7 (4) Clinical/Scientific NotesOpen Access

PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1

Changrui Xiao, Thomas Markello, Wadih M. Zein, Rachel Bishop, Catherine Groden, William Gahl, Camilo Toro
First published July 15, 2021, DOI: https://doi.org/10.1212/NXG.0000000000000606
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Article Information

vol. 7 no. 4 e606
DOI: 
https://doi.org/10.1212/NXG.0000000000000606
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received February 12, 2021
  • Accepted in final form May 13, 2021
  • First Published July 15, 2021.
Copyright & Usage: 
Copyright © 2021 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. Changrui Xiao, MD,
    2. Thomas Markello, MD (markellot{at}mail.nih.gov),
    3. Wadih M. Zein, MD (zeinw{at}nei.nih.gov),
    4. Rachel Bishop, MD (rbishop6{at}jhmi.edu),
    5. Catherine Groden, APN (cgroden{at}mail.nih.gov),
    6. William Gahl, MD (gahlw{at}mail.nih.gov) and
    7. Camilo Toro, MD (toroc{at}mail.nih.gov)
  1. Changrui Xiao, MD,
    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. 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

  2. Thomas Markello, MD (markellot{at}mail.nih.gov),
    3. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. I am listed on a patent application involving the discovery of a gene NT5E and the possible use of drug inhibitors in the prevention of vascular califications in the femoral arteries of individuals with a rare inherited form of peripheral arterial calcification.

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. I work as a staff clinician in medical genetics at the National Human Research Institute at the NIH where my primary duties involve human research into rare genetic disorders. I receive a standard government salary only.

    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. I work as a staff clinician in medical genetics at the National Human Research Institute at the NIH where my primary duties involve human research into rare genetic disorders. I receive a standard government salary only.

    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. Wadih M. Zein, MD (zeinw{at}nei.nih.gov),
    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. Intramural Research Program of the National Institutes of Health (NIH)

    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. Rachel Bishop, MD (rbishop6{at}jhmi.edu),
    5. Scientific Advisory Boards:

    1. Leadiant Biosciences

    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. Catherine Groden, APN (cgroden{at}mail.nih.gov),
    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. William Gahl, MD (gahlw{at}mail.nih.gov) and
    7. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Cystinosis Research Network - travel only

    Editorial Boards:

    1. Molecular Genetics and Metabolism, Associate Editor, 2005- present No Compensation

    Patents:

    1. N-Acetylmannosamine use in GNE myopathy and renal diseases.

    Publishing Royalties:

    1. ManNAc licensing royalties ≈ $900 x 4 or 5.

    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. A CRADA (cooperative agreement) between NHGRI and Leadiant provides me with some clinical and lab support for investigations into ManNAc use in GNE myopathy.

    Research Support, Government Entities:

    1. NIH Intramural Funding

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. The Neuromuscular Disease Foundation supports some work in my lab.

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License fee payments, Technology or Inventions:

    1. Royalties for ManNAc license. See #6.

    Royalty Payments, Technology or Inventions:

    1. ManNAc licensing royalties ≈ $900 x 4 or 5.

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  7. Camilo Toro, MD (toroc{at}mail.nih.gov)
    8. 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. I'm a full time employee of the NIH. This work was supported by funding from the NIH intramural program.

    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

  1. From the National Human Genome Research Institute (C.X.), Bethesda, MD; Office of the Clinical Director (T.M.), National Human Genome Research Institute, Bethesda, MD; National Eye Institute (W.M.Z., R.B.), Bethesda, MD; NIH Undiagnosed Diseases Program (C.G., W.G., C.T.), National Human Genome Research Institute, Bethesda, MD.
  1. Correspondence
    Dr. Xiao changrui.xiao{at}nih.gov
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