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February 02, 2016; 86 (5) Article

OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes

Orly Goldstein, Omri Nayshool, Beatrice Nefussy, Bryan J. Traynor, Alan E. Renton, Mali Gana-Weisz, Vivian E. Drory, Avi Orr-Urtreger
First published January 6, 2016, DOI: https://doi.org/10.1212/WNL.0000000000002334
Orly Goldstein
From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine (V.E.D., A.O.-U.), Tel Aviv University, Israel.
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Omri Nayshool
From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine (V.E.D., A.O.-U.), Tel Aviv University, Israel.
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Beatrice Nefussy
From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine (V.E.D., A.O.-U.), Tel Aviv University, Israel.
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Bryan J. Traynor
From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine (V.E.D., A.O.-U.), Tel Aviv University, Israel.
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Alan E. Renton
From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine (V.E.D., A.O.-U.), Tel Aviv University, Israel.
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Mali Gana-Weisz
From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine (V.E.D., A.O.-U.), Tel Aviv University, Israel.
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Vivian E. Drory
From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine (V.E.D., A.O.-U.), Tel Aviv University, Israel.
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Avi Orr-Urtreger
From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine (V.E.D., A.O.-U.), Tel Aviv University, Israel.
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Full PDF
Citation
OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes
Orly Goldstein, Omri Nayshool, Beatrice Nefussy, Bryan J. Traynor, Alan E. Renton, Mali Gana-Weisz, Vivian E. Drory, Avi Orr-Urtreger
Neurology Feb 2016, 86 (5) 446-453; DOI: 10.1212/WNL.0000000000002334

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Article Information

vol. 86 no. 5 446-453
DOI: 
https://doi.org/10.1212/WNL.0000000000002334
PubMed: 
26740678

Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Print ISSN: 
0028-3878
Online ISSN: 
1526-632X
History: 
  • Received July 6, 2015
  • Accepted in final form October 9, 2015
  • First Published January 6, 2016.

Article Versions

  • Previous version (January 6, 2016 - 13:01).
  • You are viewing the most recent version of this article.
Copyright & Usage: 
© 2016 American Academy of Neurology

Author Disclosures

    1. Orly Goldstein, PhD,
    2. Omri Nayshool, MSc,
    3. Beatrice Nefussy, PhD,
    4. Bryan J. Traynor, MD, PhD,
    5. Alan E. Renton, PhD,
    6. Mali Gana-Weisz, PhD,
    7. Vivian E. Drory, MD* and
    8. Avi Orr-Urtreger, MD, PhD*
  1. Orly Goldstein, 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. 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. Omri Nayshool, MSc,
  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

  5. Beatrice Nefussy, PhD,
  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

  7. Bryan J. Traynor, MD, PhD,
  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. 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

  9. Alan E. Renton, PhD,
  10. 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

  11. Mali Gana-Weisz, PhD,
  12. 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

  13. Vivian E. Drory, MD* and
  14. 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

  15. Avi Orr-Urtreger, MD, PhD*
  16. 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

  1. From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine (V.E.D., A.O.-U.), Tel Aviv University, Israel.
  1. Correspondence to Dr. Orr-Urtreger: aviorr{at}tasmc.health.gov.il
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