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February 2020; 6 (1) ArticleOpen Access

Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort

Jennifer Roggenbuck, Marilly Palettas, Leah Vicini, Radha Patel, Adam Quick, Stephen J. Kolb
First published January 13, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000390
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Article Information

vol. 6 no. 1 e390
DOI: 
https://doi.org/10.1212/NXG.0000000000000390
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received July 16, 2019
  • Accepted in final form December 2, 2019
  • First Published January 13, 2020.
Copyright & Usage: 
Copyright © 2020 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. Jennifer Roggenbuck, MS, CGC,
    2. Marilly Palettas, MPH,
    3. Leah Vicini, BS,
    4. Radha Patel, BS,
    5. Adam Quick, MD and
    6. Stephen J. Kolb, MD, PhD
  1. Jennifer Roggenbuck, MS, CGC,
    2. Scientific Advisory Boards:

    1. I served on the Advisory Board of Invitae Corp in May 2017 and was paid $1000.

    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. This study was supported, in part, by the Neurological Research Institute and Division of Human Genetics at the Ohio State University Wexner Medical Center.

    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. Marilly Palettas, MPH,
    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. Leah Vicini, BS,
    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. This study was supported, in part, by the Neurological Research Institute and Division of Human Genetics at the Ohio State University Wexner Medical Center.

    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. Radha Patel, BS,
    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. 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. Adam Quick, MD 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. 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. Stephen J. Kolb, MD, PhD
    7. Scientific Advisory Boards:

    1. Novartis - Scientific Advisory Meeting

    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. AveXis - “Validation of CSF and plasma pNF-H and NF-L in a postnatal porcine model of SMA” Role: PI

    Research Support, Government Entities:

    1. NIH: U24NS107205 – NINDS: “Network for Excellence in Neuroscience Clinical Trials Center at The Ohio State University” Role: PI, 7/18 – 6/23 R01NS098780 – “Survival Motor Neuron (SMN) Function in Motoneuron Development” Role: Dual PI, 4/18 – 3/21 NIH: R01HD060586 – NICHHD: “Biomarkers and additive therapies to enhance symptomatic treatment of spinal muscular atrophy” Role: co-PI, 4/17 – 3/22

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. ALS Finding a Cure: “Answer ALS: The Individualized ALS Treatment Initiative (IATI)” 10/15 – 12/19, Role: Site PI AnswerALS: “AnswerALS Return of Results Study” Role: co-PI, 1/19- 12/19

    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 Department of Internal Medicine (J.R.) and Department of Neurology (J.R., A.Q., S.J.K.), The Ohio State University Wexner Medical Center; Department of Biomedical Informatics (M.P.), Center for Biostatistics, The Ohio State University Wexner Medical Center; College of Medicine (L.V., R.P.), The Ohio State University Wexner Medical Center; and Department of Biological Chemistry & Pharmacology (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.
  1. Correspondence
    Ms. Roggenbuck jennifer.roggenbuck{at}osumc.edu
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