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February 2019; 5 (1) Views & ReviewsOpen Access

Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3

Kathleen J. Sweadner, Elena Arystarkhova, John T. Penniston, Kathryn J. Swoboda, Allison Brashear, Laurie J. Ozelius
First published February 4, 2019, DOI: https://doi.org/10.1212/NXG.0000000000000303
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Article Information

vol. 5 no. 1 e303
DOI: 
https://doi.org/10.1212/NXG.0000000000000303
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received June 1, 2018
  • Accepted in final form November 8, 2018
  • First Published February 4, 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. Kathleen J. Sweadner, PhD,
    2. Elena Arystarkhova, PhD,
    3. John T. Penniston, PhD,
    4. Kathryn J. Swoboda, MD,
    5. Allison Brashear, MD and
    6. Laurie J. Ozelius, PhD
  1. Kathleen J. Sweadner, PhD,
    2. Scientific Advisory Boards:

    1. Aarhus University Scientific Advisory Board DANDRITE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. (1) Weizmann Institute, Israel, speaker travel expenses, 2016. (2) Gordon Research Conferences, Italy, speaker travel expenses and registration, 2016. (3) University of Lausanne, Switzerland, speaker travel expenses, 2016. (4) Harvard Club of Australia; Royal North Shore Hospital, University of New South Wales, Australia, travel expenses for 1 mo

    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) Funded by a subcontract from Wake Forest University from NIH grant NS058949, (2015-2020). (2) Funded as principal investigator on P30 DK057521-16 (BADERC) (2015-2017) (3) Funded as principal investigator on P30 DK040561-19 (NORC-H) (2015-2016)

    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. Elena Arystarkhova, 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. 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. John T. Penniston, PhD,
    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. Payments for antibody via Mayo Medical ventures; less than $1000/year

    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. Kathryn J. Swoboda, MD,
    5. Scientific Advisory Boards:

    1. Cure SMA Scientific Advisory Board AHC foundation Scientific Advisory Board Biogen Scientific Advisory Board

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Biogen

    Editorial Boards:

    1. 1. Journal of Neuromuscular Disorders, Editorial Board, 2015- present

    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. Biogen: PI for NURTURE, phase 2 trial of nusinursen in pre- symptomatic infants with SMA; April 2016-present 2. AveXis: PI for SPR1NT, phase 3 Pre-Symptomatic Study of Intravenous AVXS-101 in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2; July 2018-present

    Research Support, Government Entities:

    1. NIH RO1-HD69045 grant to fund a newborn screening pilot study for SMA, PI, 2011-18, NICHD.

    Research Support, Academic Entities:

    1. Adjunct Professor, University of Utah Department of Neurology

    Research Support, Foundations and Societies:

    1. Cure SMA clinical support grant, PI, 2018-2019 Cure SMA research grant, PI, 2018-2020

    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. Allison Brashear, MD and
    6. Scientific Advisory Boards:

    1. Consulting agreement with Revance and Ipsen regarding protocol development.

    Gifts:

    1. Dr Brashear is PI of grants from NINDS R01NS058949 (2007- 2020), U24NS107197 (2018-2023), and performs research for Revance, and Ipsen. All research grants are paid directly to Wake Forest School of Medicine. Dr. Brashear has consultation agreements with Ispsen and Revance for protocol development. Her conflict of interest is managed by Wake Forest School of Medicine. Dr. Brashear serves on the Board of Directors of the American Board of Psychiatry and Neurology, as the American Neurological Association Chair of the Membership, Honorary and Awards Committee, and on the American Academy of Neurology Meeting management Committee and the Leadership Development Committee She also reviews for NINDS.

    Funding for travel or speaker honoraria:

    1. Travel and meals related only to consulting meeting activities.

    Editorial Boards:

    1. NONE

    Patents:

    1. Application for care management- patent pending.

    Publishing Royalties:

    1. Book royalties: Spasticity- Demos publishing. Royalities in 2011-2018

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Dr. Brashear has consulting agreements with Ipsen, Revance and for research protocol development. Dr. Brashear does not participate in any speakers bureaus. All research grants are paid directly to Wake Forest School of Medicine. Her conflict of interest is managed by Wake Forest School of Medicine. Dr. Brashear is also on the Board of Directors of the American Board of Psychiatry and Neurology. She also reviews for NINDS.

    Speakers' Bureaus:

    1. NONE

    Other activities:

    1. Board member of the American Board of Psychiatry and Neurology.

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. Dr. Brashear has consulting agreements with Ispsen, , Revance, for research program development. These are all on clinical trials with botulinum toxin. Dr. Brashear does not participate in any speakers bureaus. All research grants are paid directly to Wake Forest School of Medicine. Her conflict of interest is managed by Wake Forest School of Medicine.

    Research Support, Government Entities:

    1. NIH (R01-NS058949)-PI 20% effort, U24NS107197 (15%) Stock/Stock Options, Medical Equipment & Materials: stock owner of Care Directions. This is an application for discharge planning and has not made any money to date

    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. Laurie J. Ozelius, PhD
    7. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. Patents related to DYT1 and DYT6 gene tests

    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. NIH, DC011805 (Co-I), NS081282 (PI), NS087997 (Co-PD, PI Project 1), NS058949 (Co-I), NS088160 (Co-I)

    Research Support, Academic Entities:

    1. Massachusetts General Hospital

    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. Genetic test for DYT1, DYT6, Athena Diagnostics, Inc,

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  1. From the Department of Neurosurgery (K.J. Sweadner, E.A., J.T.P.), Center for Human Genetics Research (K.J. Swoboda), and Department of Neurology, (K.J. Swoboda, L.J.O.) Massachusetts General Hospital, Boston; and the Department of Neurology (A.B.), Wake Forest School of Medicine, Winston-Salem, NC.
  1. Correspondence
    Dr. Sweadner sweadner{at}helix.mgh.harvard.edu
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