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July 18, 2017; 89 (3) Article

The evolving genetic risk for sporadic ALS

Summer B. Gibson, Jonathan M. Downie, Spyridoula Tsetsou, Julie E. Feusier, Karla P. Figueroa, Mark B. Bromberg, Lynn B. Jorde, Stefan M. Pulst
First published June 22, 2017, DOI: https://doi.org/10.1212/WNL.0000000000004109
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Article Information

vol. 89 no. 3 226-233
DOI: 
https://doi.org/10.1212/WNL.0000000000004109
PubMed: 
28642336
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Print ISSN: 
0028-3878
Online ISSN: 
1526-632X
History: 
  • Received December 8, 2016
  • Accepted in final form March 17, 2017
  • First Published June 22, 2017.

Article Versions

Copyright & Usage: 
© 2017 American Academy of Neurology

Author Disclosures

    1. Summer B. Gibson, MD*,
    2. Jonathan M. Downie, BS*,
    3. Spyridoula Tsetsou, MD,
    4. Julie E. Feusier, BS,
    5. Karla P. Figueroa, MS,
    6. Mark B. Bromberg, MD, PhD,
    7. Lynn B. Jorde, PhD† and
    8. Stefan M. Pulst, MD, DrMed†
  1. Summer B. Gibson, 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. (1) Skin Biopsy for the Evaluation of Peripheral Nerve Disease. UpToDate. Sept 2013. (2) Amyotrophic lateral sclerosis. Medlink. June 2016

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. (1) Ogden Surgical-Medical Society 2014 annual meeting

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. (1) NCATS, TL1TR001066, Trainee, 09/03/2014 - 06/30/2016 Stock/Stock Options, Medical Equipment & Materials: (1) Recursion Pharmaceuticals, 2013-current

    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. Jonathan M. Downie, BS*,
    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. (1) National Institute of General Medical Sciences, GM059290, Graduate Research Assistant, 2015-current (2) National Institute of General Medical Sciences, GM118335, Graduate Research Assistant, 2016-current

    Research Support, Academic Entities:

    1. (1) University of Utah Neuroscience Initiative Collaborative Pilot Project Grant

    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. Spyridoula Tsetsou, MD,
    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. Julie E. Feusier, 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. Karla P. Figueroa, MS,
    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. Mark B. Bromberg, MD, PhD,
    7. Scientific Advisory Boards:

    1. Accordant Health Care (1995-present) Baxter Bioscience (2011-present)

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Funds for travel and and speaker honoraria: Grifols Biotherapeutics (2009-present) Baxter Bioscience (2011-present) Sanofi (2017-present)

    Editorial Boards:

    1. Muscle & Nerve, Assistant Editor (1996-1999; 2005-2009; 2016- present) Clinical Neurophysiology, Assistant Editor (2008-2014) J Clinical Neuromuscular Diseases, Assistant Editor (1998-present)

    Patents:

    1. NONE

    Publishing Royalties:

    1. Handbook of Peripheral Neuropathy, Taylor & Francis, 2005 Quality of Life Measurement in Neurodegenerative and Related Conditions, Cambridge, 2010 UpToDate, 2008 to present Motor Neuron Disease in Adults, 2014

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. Grifols Biotherapeutics (2009-present) Genzyme (2015-present)

    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. Lynn B. Jorde, PhD† and
    8. Scientific Advisory Boards:

    1. Telethon Italy; nonprofit

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Genetics; associate editor

    Patents:

    1. NONE

    Publishing Royalties:

    1. Medical Genetics; Elsevier; 2016

    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 -- multiple grants from NIGMS

    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

  8. Stefan M. Pulst, MD, DrMed†
    9. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. editorial boards: Journal of Cerebellum, NeuroMolecular Medicine, Experimental Neurology, Neurogenetics, Nature Clinical Practice Neurology Editor-in-Chief: Neurology: Genetics

    Patents:

    1. Nucleic acids encoding ataxin-2 binding proteins; Nucleic acid encoding Schwannomin-binding-proteins and products related thereto; Transgenic mouse expressing a polynucleotide encoding a human ataxin-2 polypeptide; Methods of detecting spinocerebellar ataxia-2 nucleic acids; Nucleic acid encoding spinocerebellar ataxia-2 and products related thereto; Shwannomin-binding-proteins; Compositions and methods for spinocerebellar ataxia

    Publishing Royalties:

    1. The Ataxias (Churchill Livingston, 2007), Genetics in Neurology (ANN Press, 2005), Genetics of Movement Disorders (Academic Press, 2003), Neurogenetics (Oxford University Press, 2000), Molecular Genetic Testing in Neurology, 2nd - 5th (AAN Press, 1996)

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Ataxion Therapeutics

    Speakers' Bureaus:

    1. Athena Diagnostics, Inc.

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. (1) 2010-2012 National Institutes of Health (RC1NS068897): CLINICAL RESEARCH CONSORTIUM FOR SPINOCEREBELLAR ATAXIAS, 9/1/2009-8/31/2012 (Principal Investigator of genomics core and site PI). (2) 2010-2013 National Institutes of Health (RC4NS073009): Drug discovery for Spinocerebellar ataxia type 2 (SCA2). 9/1/2010-8/31/2013 (Principle Investigator, Co-PI, D. Scoles). (3) 2013-2015 National Institutes of Health (R21NS081182): Antisense oligonucleotides for the treatment of spinocerebellar ataxia type 2. 07/01/2013 to 06/30/2015 (Co-PI with D. Scoles). (4) 2013-2016 National Institutes of Health (R21NS079852): Identification of a mutation causing Purkinje cell degeneration in the rat. 03/01/2013 to 02/28/2016. (Principle Investigator). (5) 2014-2021 National Institutes of Health (RO1NS33123): Spinocerebellar ataxia type 2: gene and gene product. 9/30/14-6/30/2021. (Principal Investigator).

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. National Ataxia foundation (mentor for fellowship award)

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. Cedars-Sinai Medical Center

    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 Departments of Neurology (S.B.G., S.T., K.P.F., M.B.B., S.M.P.) and Human Genetics (J.M.D., J.E.F., L.B.J.), University of Utah School of Medicine, Salt Lake City.
  1. Correspondence to J.M. Downie: jonathan.downie{at}hsc.utah.edu
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