Nonataxia symptoms in Friedreich Ataxia
Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)
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Article Information
- Received January 9, 2018
- Accepted in final form June 5, 2018
- First Published August 10, 2018.
Article Versions
- Previous version (August 10, 2018 - 12:45).
- You are viewing the most recent version of this article.
Author Disclosures
- Kathrin Reetz, MD*,
- Imis Dogan, PhD*,
- Christian Hohenfeld,
- Claire Didszun, PhD,
- Paola Giunti, MD,
- Caterina Mariotti, MD,
- Alexandra Durr, MD, PhD,
- Sylvia Boesch, MD,
- Thomas Klopstock, MD,
- Francisco Javier Rodríguez de Rivera Garrido, MD,
- Ludger Schöls, MD,
- Ilaria Giordano, MD,
- Katrin Bürk, MD,
- Massimo Pandolfo, MD,
- Jörg B. Schulz, MD;
- the EFACTS Study Group
- Kathrin Reetz, MD*,
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KR was partly funded by the German Federal Ministry of Education and Research (BMBF 01GQ1402).
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- Imis Dogan, PhD*,
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- Christian Hohenfeld,
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- Claire Didszun, PhD,
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- Paola Giunti, MD,
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Dr. Giunti received speaker honoraria from TAKEDA
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P. Giunti received research support from the European Community Grant FP7- HEALTH-F2-2010-242193 (EFACTS) and she is also supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre.
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Ataxia UK
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- Caterina Mariotti, MD,
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Research support from an FP7 Grant from the European Commission (HEALTH-F2-2010- 242193).European Friedreich Ataxia Consortium for Translational Studies (EFACTS)
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- Alexandra Durr, MD, PhD,
Member of International Science Advisory Board of the Helmholtz Initiative on Personalized Medicine Germany Member of the Scientific Advisory Board of the Grenoble Neuroscience Institute of Grenoble, France Board of Directory of the ENP http://www.paris-neuroscience.fr
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(1) Neurology Genetics, associated editor, (2)Journal of Huntington?s Disease, associated editor; (3) International Advisory Committee for Archives of Neurology, assocaited editor
?Anaplerotic therapy of Huntington disease and other polyglutamine diseases?, BIO06353 Mochel/Durr (EP 06291873.5, 12/4/2006)
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(1) Roche, (2) Brainvectis
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CoEn 2015 : WIN-HD - Decoding Presymptomatic white matter changes in Huntington Disease 2015-2018 AAPG ANR 2017: Restoring brain cholesterol metabolism: Development of clinical Gene therapy for Huntington's disease (HDcyp)
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?Anaplerotic therapy of Huntington disease and other polyglutamine diseases?, BIO06353 Mochel/Durr (EP 06291873.5, 12/4/2006)
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- Sylvia Boesch, MD,
commercial: Abbvie, Gruenenthal, Allergan, Reata, Ipsen EFACTS (EU), E-RARE (EU)
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- Thomas Klopstock, MD,
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(1) commercial entity: Santhera Pharmaceuticals (speaker honoraria and travel costs) (2) commercial entity: GenSight Biologics (speaker honoraria and travel costs)
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(1) commercial entity: Santhera Pharmaceuticals (2) commercial entity: GenSight Biologics
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(1) commercial entity: Santhera Pharmaceuticals (2) commercial entity: GenSight Biologics (3) commercial entity: Genzyme (4) commercial entity: Actelion
(1) Bundesministerium f?r Bildung und Forschung (BMBF) (2) European Commission, 7th Framework Programme
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- Francisco Javier Rodríguez de Rivera Garrido, MD,
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- Ludger Schöls, MD,
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(1) Speaker honorar from Actelion
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I received the following grants: PI: Genetic disorders in Arab Societies (grant SCHO754/5-2), DFG: 2014-2017; PI: NEUROMICS (F5-2012-305121) EU: 2012-2017; PI: ESMI (01ED1602B), BMBF: 2016-2019
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I received additional funding from the HSP-Selbsthilfegruppe Deutschland eV and the F?rderverein fuer HSP-Forschung
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- Ilaria Giordano, MD,
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- Katrin Bürk, MD,
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Speaker honoraria from Desitin, Travel expenses from Medtronic, all outside the submitted work
Editorial board member ?Cerebellum and Ataxias?
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Paracelsus Elena Klinik Kassel Klinikstr. 16 34128 Kassel, Germany; Attending, 07/15 to date
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Scientific grant from Actelion Inc. Clinical trial Amaryllis, Pfizer Inc.
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Enroll-HD Grant from CHDI
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Reviewer for EU programme Horizon 2020
- Massimo Pandolfo, MD,
(1) Apopharma, DSMB and consulting (2) Voyager Therapeutics, Scientific Advisory Board (3) Biomarin, Scientific Advisory Board
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(1) Acta Neurologica Belgica, Editorial Board Member, 2011- (2) Orphanet Journal of Rare Diseases, Editorial Board Member, 2013- (3) Neurology Genetics, Associate Editor, 2015-
(1) Direct molecular diagnosis of Friedreich?s ataxia. M. Pandolfo, L. Montermini, M.D. L. Molto, M. Koenig, V. Campuzano, M. Cossee. US patent (2000) 6, 150, 091, WO patent (1997) 9705234.
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(1) Biomarin (2) Voyager Therapeutics
(1) Fonds National de la Recherche Scientifique (Belgium)
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(1) Offrez-moi-la-lune (2) Friedreich's Ataxia Research Alliance (3) Association Belge contre les Maladies neuro-Musculaires
(1) Voyager Therapeutics
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(1) Friedreich's ataxia diagnostic test, Athena Diagnostics, since 1997
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- Jörg B. Schulz, MD;
(1) Novartis; (2) MSD; both for AD, no relationship to the study
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Travel and speaker honoraria from Pfizer, Novartis, Lilly
Journal of Neurochemistry, Editor in Chief; eNeuro, Editorial Board; Synapse, Editorial Board
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BMBF/01GS08137, BMBF/01GS0703, EU FP7, collaborative project #242193
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- the EFACTS Study Group
- From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
- Correspondence
Dr. Schulz jschulz{at}ukaachen.de
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