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March 19, 2013; 80 (12) Clinical/Scientific Notes

Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy

Julia Schicks, Jennifer Müller vom Hagen, Peter Bauer, Stefanie Beck-Wödl, Saskia Biskup, Ingeborg Krägeloh-Mann, Ludger Schöls, Matthis Synofzik
First published February 20, 2013, DOI: https://doi.org/10.1212/WNL.0b013e31828869f9
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Article Information

vol. 80 no. 12 1169-1170
DOI: 
https://doi.org/10.1212/WNL.0b013e31828869f9
PubMed: 
23427322
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Print ISSN: 
0028-3878
Online ISSN: 
1526-632X
History: 
  • Received August 28, 2012
  • Accepted October 22, 2012
  • First Published February 20, 2013.

Article Versions

Copyright & Usage: 
© 2013 American Academy of Neurology

Author Disclosures

    1. Julia Schicks, MD*,
    2. Jennifer Müller vom Hagen, MD*,
    3. Peter Bauer, MD,
    4. Stefanie Beck-Wödl, PhD,
    5. Saskia Biskup, MD, PhD,
    6. Ingeborg Krägeloh-Mann, MD,
    7. Ludger Schöls, MD and
    8. Matthis Synofzik, MD
  1. Julia Schicks, 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. 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

  2. Jennifer Müller vom Hagen, MD*,
    3. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. (1) Commercial entity (Actelion Pharmaceuticals) , travel grant

    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. Peter Bauer, MD,
    4. Scientific Advisory Boards:

    1. (1) Scientific advisory board for ZOOM study, Actelion Pharmaceuticals, Allschwil, CH

    Gifts:

    1. (1) Consultant for Actelion Pharmaceuticals, Allschwil, CH (2) Consultant for CENTOGENE GmbH, Rostock, GER

    Funding for travel or speaker honoraria:

    1. (1) Speaker honoraria from Actelion Pharmaceuticals, Allschwil, CH

    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) German Research Council (BMBF) to GeNeMove (01GM0603), EUROSPA (01GM0807) and RISCA (09GM0820) (2) EU for EUROSCA (LSHM-CT-2004-503304), MarkMD (FP7-People PIAP-2008-230596) and TECHGENE (FP7-Health 2007-B 223143).

    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. (1) Improved DNase treatment protocol, Roche, Mannheim, GER

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  4. Stefanie Beck-Wödl, PhD,
    5. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. 1. Thank you for submitting your manuscript entitled "Novel SLC9A6 mutations in two families with Christianson syndrome" for review. For internal purposes, we have assigned it the internal reference number CGE-00263-2012. Clinical genetics 2. Mirror-image asymmetry in monozygotic twins with Kabuki syndrome clinical genetics

    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. Saskia Biskup, MD, 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

  6. Ingeborg Krägeloh-Mann, MD,
    7. Scientific Advisory Boards:

    1. intrathecal enzyme replacement in metachromatic leukodystrophy - phase I/II study starting Shire 2012

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Developmental medicine and child neurology since 2006 Neuropediatrics since 2000 European Journal of Paediatric Neurology since 2009

    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. German Research Council DFG SFB 833 B05 KSyntax and Semantics of Reorganized Language and its Neuronal Architecture 7/2010-6/2013 SCPE-Net DGXII-BIOMED2 BMH4-983701-QLG5-CT-2001.30133 Surveillance in Cerebral Palsy in Europe 4/2002-12/2011 Leukonet 01 GM0309 01 GM0644 Childhood leukodystrophies with known genetic defect 11/2003-12/2011 Leukonet 01 GM0835 Netzwerk Leukodystrophien 12/2008-12/2012 Leukotreat FP7-HEALTH-F2 2010-241622

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Brains for Brain Developing treatment options for Metachromatic Leukodystrophy 2010-2012

    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. Ludger Schöls, MD and
    8. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. I served as an editorial board member for Movement Disorders 2006-2008

    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. As participant of the MICONOS trial I received fees from Santhera Pharmaceuticals

    Research Support, Government Entities:

    1. I received the following grants: PI: PET in SCA (grant SCHO754/3-1), DFG: 2007-2009 PI: New locus for adHSP (grant SCHO754/4-1), DFG: 2008-2010 PI: Genetic disorders in Arab Societies (grant SCHO754/5-1), DFG: 2011-2013 PI: Leukodystrophies in adulthood (Leukonet, grant 01GM0644), BMBF: 2004-2011 PI: mitoMORPH (mitoNET, grant 01GM0864), BMBF: 2008-2011 Co-Investigator: EUROSCA (LSHM-CT-2004-503304), EU: 2004-2009 PI: EUROSPA (01GM0807) EU/BMBF: 2008-2011 Co-PI: RISCA (01GM0820) EU/BMBF: 2008-2011

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. I received additional funding from the HSP-Selbsthilfegruppe Deutschland eV.

    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. Matthis Synofzik, MD
    9. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. (1) Movement Disorders Society (Non profit entity), Travel Grant 2011. (2) Fresenius Kabi (commercial entity), speakers honoraria.

    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. (1) Oliver-Vaihinger-Fonds, Stiftung für kranke Kinder, Tübingen; (2) Ataxia UK (3)Ataxia Ireland (4) German Hereditary Ataxia Foundation (DHAG) (5) Volkswagen Stiftung (VW Az. II/85 158) (5) Robert Bosch Stiftung

    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 Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research (J.S., J.M.v.H., S.B., L.S., M.S.), German Research Center for Neurodegenerative Diseases (DZNE) (J.S., J.M.v.H., S.B., L.S., M.S.), Department of Medical Genetics (P.B., S.B.-W.), and Department of Neuropediatrics (I.K.-M.), University of Tübingen, Tübingen; and CeGaT GmbH (S.B.), Tübingen, Germany.
  1. Correspondence to Dr. Synofzik: matthis.synofzik{at}uni-tuebingen.de
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