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January 22, 2013; 80 (4) Article

Metabolic changes in DYT11 myoclonus-dystonia

Maren Carbon, Deborah Raymond, Laurie Ozelius, Rachel Saunders-Pullman, Steven Frucht, Vijay Dhawan, Susan Bressman, David Eidelberg
First published January 2, 2013, DOI: https://doi.org/10.1212/WNL.0b013e31827f0798
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Article Information

vol. 80 no. 4 385-391
DOI: 
https://doi.org/10.1212/WNL.0b013e31827f0798
PubMed: 
23284065
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Print ISSN: 
0028-3878
Online ISSN: 
1526-632X
History: 
  • Received April 18, 2012
  • Accepted September 6, 2012
  • First Published January 2, 2013.

Article Versions

Copyright & Usage: 
© 2013 American Academy of Neurology

Author Disclosures

    1. Maren Carbon, MD,
    2. Deborah Raymond, MS,
    3. Laurie Ozelius, PhD,
    4. Rachel Saunders-Pullman, MD,
    5. Steven Frucht, MD,
    6. Vijay Dhawan, PhD,
    7. Susan Bressman, MD and
    8. David Eidelberg, MD
  1. Maren Carbon, MD,
    2. Scientific Advisory Boards:

    1. My husband has served as a consultant, advisory board member or speaker for: Alexza; AstraZeneca; Biotis; Bristol-Myers Squibb; Desitin; Eli Lilly; IntraCellular Therapies; Lundbeck; MedAvante; Pfizer; Otsuka, Takeda, Teva

    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. My husband has served as a consultant, advisory board member or speaker for: Alexza; AstraZeneca; Biotis; Bristol-Myers Squibb; Desitin; Eli Lilly; IntraCellular Therapies; Lundbeck; MedAvante; Pfizer; Otsuka, Takeda, Teva

    Speakers' Bureaus:

    1. My husband has served as a consultant, advisory board member or speaker for: Alexza; AstraZeneca; Biotis; Bristol-Myers Squibb; Desitin; Eli Lilly; IntraCellular Therapies; Lundbeck; MedAvante; Pfizer; Otsuka, Takeda, Teva

    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. Deborah Raymond, MS,
    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. The Michael J. Fox Foundation for Parkinson's ResearchThomas Hartman Foundation for Parkinson's Research, Inc.Marcled Foundation

    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. Laurie Ozelius, PhD,
    4. Scientific Advisory Boards:

    1. Dystonia Medical Research Foundation, the Bachmann-Strauss Dystonia & Parkinson Foundation, the Benign Essential Blepharospasm Research Foundation, the National Spasmodic Dysphonia Association, National Tourette's Syndrome Association

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. Torsin, Torsin Genes and Methods of Use, Patent # 6,387,616, 5-14-2002Patent # 20110020802, Nucleic acids, methods and kits for the diagnosis of DYT6 primary torsion dystonia, 1-27-2011

    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: NS046340, NS058949, NS037409, RR026123, DC011805, NS0755881

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Dystonia Medical Research Foundation,Bachmann Strauss Dystonia Parkinson Fdn, Benign Essential Blepharospasm Research Foundation

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. Torsin, Torsin Genes and Methods of Use, Patent # 6,387,616, Athena DiagnosticNucleic acids, methods and kits for the diagnosis of DYT6 primary torsion dystonia, Patent # 20110020802,Athena Diagnostic

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  4. Rachel Saunders-Pullman, MD,
    5. Scientific Advisory Boards:

    1. Medical and Scientific Advisory Council, Dystonia Medical Research Foundation

    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. NINDS-NIH K23-NS047256; PI 2005-2010K02-NS073836-01: PI 2011-current

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Bachmann-Strauss Dystonia Parkinson's Foundation (Co-PI) 2009Marcled Foundation (PI) 2010-12Michael J Fox Foundation (PI) 2010- 12

    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. Steven Frucht, MD,
    6. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. Consulting for Merz, Impax

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. Movement Disorders Emergencies

    Employment, Commercial Entity:

    1. American Academy of NeurologyMovement Disorders Society

    Consultancies:

    1. UCB Pharma, consultant 2008Jazz Pharma, consultant 2008Merz Pharma, consultant 2010-2011GE Healthcare, consultant 2010Allergan, consultant, 2009

    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. Vijay Dhawan, PhD,
    7. 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. Neurologix,PI:A. Feigin,08/01/08 - 07/31/10,Biophysicist

    Research Support, Government Entities:

    1. 1. NIH/NIDCD,R01 DC007658,PI:J. Sidtis,04/01/06-03/31/11,Co-Investigator2. NIH/NIAID,P01 AI073693,PI:B. Diamond,08/01/08-07/31/13,Co-Investigator

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Dana Foundation,PI:A. Feigin,07/01/08 - 06/30/10,Co-Investigator

    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. Susan Bressman, MD and
    8. Scientific Advisory Boards:

    1. (1) Scientific Advisory Board of Bachmann Strauss Dystonia and Parkinsons's Foundation and (2) Michael J Fox Foundation for Parkinson's Research (3) Dystonia Medical Research Foundation

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. THAP1 gene testing

    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/NINDS RO1NS072515 NIH/NINDS Subrecipient PI 4/2011-3/2015NIH/NINDS P50NS037409-11 Consultant, 12/09-11/2014 , NIH/NINDS KO2 NS073836, Mentor/Collaborator, 4/2011-3/2016NIH/NINDS 1U10NS077308 Subrecipient Principal Investigator, 9/2011-8/2018

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Michael J Fox Foundation for Parkinson's Research

    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. David Eidelberg, MD
    9. Scientific Advisory Boards:

    1. (1) Thomas Hartman Foundation for Parkinson's Research, Inc.(2) Michael J. Fox Foundation (3) The Bachmann-Strauss Dystonia and Parkinson Foundation.

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1) Journal of Nuclear Medicine (1999-present); (2) Current Opinion in Neurology (2001-present); (3) Annals of Neurology, editorial board member, 2006-present; (4) Journal of Neuroscience, Associate Editor, 2011-present; (5) NeuroImage, editorial board member, 2011-present

    Patents:

    1. Coinventor of United States Patent NO. 5,632,276 (filed January 27, 1995, granted May 27, 1997) and NO. 5,873,823 (filed September 4, 1996, granted February 23, 1999), without financial gain.

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. The Feinstein Institute for Medical Research, North Shore-LIJ Health System, non-for-profit

    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) NIH/NINDS, P50 NS071675-01, PI, 07/01/10-06/30/15; (2)NIH/NCRR GCRC, M01 RR018535, Program Director,04/22/08-03/31/11 (3) NIH/NIDCD, R01 DC007658, Site PI, 04/01/06-03/31/11; (4) NIH NINDS P50 NS053488, Co-PI; (5) NIH/NIAID, P01 AI073693, Co-PI, 08/01/08-07/31/13; (6) NIH/NINDS, R01 NS 072514, PI, 04/01/11 - 3/31/15

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. (1) The Dana Foundation; (2) Bachmann-Strauss Dystonia and Parkinson Foundation

    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 Center for Neurosciences (M.C., V.D., D.E.), The Feinstein Institute for Medical Research, Manhasset; Mirken Department of Neurology (D.R., R.S.-P., S.B.), Beth Israel Medical Center, New York; and Department of Neurology (L.O., S.F.), Mount Sinai School of Medicine, New York, NY.
  1. Correspondence to Dr. Eidelberg: david1{at}nshs.edu
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