Jacobi, Heike
du Montcel, Sophie Tezenas
Bauer, Peter
Giunti, Paola
Cook, Arron
Labrum, Robyn
Parkinson, Michael H.
Durr, Alexandra
Brice, Alexis
Charles, Perrine
Marelli, Cecilia
Mariotti, Caterina
Nanetti, Lorenzo
Sarro, Lidia
Rakowicz, Maria
Sulek, Anna
Sobanska, Anna
Schmitz-Hübsch, Tanja
Schöls, Ludger
Hengel, Holger
Baliko, Laszlo
Melegh, Bela
Filla, Alessandro
Antenora, Antonella
Infante, Jon
Berciano, José
van de Warrenburg, Bart P.
Timmann, Dagmar
Szymanski, Sandra
Boesch, Sylvia
Nachbauer, Wolfgang
Kang, Jun-Suk
Pandolfo, Massimo
Schulz, Jörg B.
Melac, Audrey Tanguy
Diallo, Alhassane
Klockgether, Thomas
Funding for this research was provided by:
Sixth Framework Programme (EU FP6 (EUROSCA), 503304)
German Ministry of Education and Research (GeneMove)
Polish Ministry of Scientific Research and Information Technology
Hungarian Funding Agency (NKFIH 119540)
FP7 Ideas: European Research Council (n° 2012-305121 “Integrated European-omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (NEUROMICS)”)
Article History
Received: 30 March 2018
Revised: 19 June 2018
Accepted: 20 June 2018
First Online: 29 June 2018
Compliance with ethical standards
:
: H. Jacobi reports no disclosures. S. Tezenas du Montcel reports no disclosures. P. Bauer is executive board member at Centogene AG, Rostock, GER. He holds stock options in the company. He received speaker honoraria from Actelion Pharmaceuticals, Aschwil, CH. His research work was partly funded by EC Grants (2012-305121). P. Giunti received research support from Pfizer, Reata, Acetalion unrelated to the topic of this paper. She received funding for a trip to attend a meeting organised by Acetalion. A. Cook reports no disclosures. R. Labrum reports no disclosures. M. Parkinson reports no disclosures. A. Durr holds a patent “Anaplerotic therapy of Huntington disease and other polyglutamine diseases”, BIO06353 Mochel/Durr (EP 06291873.5, 12/4/2006). A. Brice serves on the scientific advisory board for FWO (Research Foundation Flanders), ERC (European Research Council), as an editorial board member for the journals Neurology and Clinical Neuroscience, Brain, Neurodegenerative Diseases, The Cerebellum, Neurogenetics. He received Grants from the public French Research Agency (ANR), EU, France Parkinson Association, RDS (Roger de Spoelberch Foundation), FDF (Fondation de France) and FRM (Fondation pour la recherche médicale). P. Charles reports no disclosures. C. Marelli receveid financial support for travel expenses and congres participation from Acetlion Pharmaceutical (unrelated to this study). C. Mariotti received funding for an educational seminar from Roche Pharmaceuticals and research support from the Italian Ministry of Health (Grant # RF-2011-02347420), CHDI Foundation and Telethon UILDM (Grant # GUP15009). L. Nanetti, received research support from the Italian Ministry of Health (Grant # GR-2013-02357821). L. Sarro received research support from the Italian Ministry of Health (Grant # RF-2011-02347420). M. Rakowicz received research support from the Polish Ministry of Science and Higher Education Grant 674N-RISCA/2010-2014 and Clinical TeleNeuroforma; Grant IS-2/230/NCBR/2015 2016 from the National Science Center Poland and a Speaker’s honorarium from the TERMEDIA Ltd. A. Sulek reports no disclosures. (A) Sobanska part in Clinical TeleNeuroforma project sponsored by Grant IS-2/230/NCBR/2015. T. Schmitz-Hübsch reports no conflicts of interest. She was funded by EU and Bundesminsterium für Wirtschaft und Energie. L. Schöls reports no disclosures relevant to this manuscript. L. Schöls received Grants from EU FP7 and the Deutsche Forschungsgemeinschaft (DFG) during conduct of this study outside the submitted work. H. Hengel reports no disclosures. L. Baliko reports no disclosures. (B) Melegh reports no disclosures. A. Filla reports no disclosures. (A) Antenora reports no disclosures. J. Infante received research support from CIBERNED and honoraria as speaker and financing the attendance at meetings from Zambon and Abbvie. J. Berciano reports no disclosures. (B) van de Warrenburg is receiving or has received research Grants from Hersenstichting, Gossweiler Foundation, Radboud university medical centre, BBMRI-NL, ZonMW, and Bioblast Pharma. D. Timmann was funded by the German Research Foundation (DFG), Mercator Research Center Ruhr (MERCUR) and the German Heredoataxia Foundation (DHAG). S. Szymanski reports no disclosures. S. Boesch served on the advisory boards for Gruenenthal and Abbvie, received honoraria from Ipsen, Allergan, Abbvie, Novartis, Gruenenthal and Reata and the following Grants: European Friedreich Ataxia Consortium for Translational Studies (EFACTS), FP7 Health (HEALTH-F2-2010-242193), E-Rare-3 “Clinical research for new therapeutic uses of already existing molecules (repurposing) in rare diseases” (E-Rare-3JTC2016). W. Nachbauer reports no disclosures. J.-S. Kang served as consultant and received honoraria and funding for congress fees and travel expenses from Merz Pharma GmbH, received honoraria from Medtronic GmbH and funding for congress fees from Ipsen Pharma. M. Pandolfo served on the scientific advisory board for Voyager Therapeutics and Biomarin and as associate editor for Neurology Genetics, receives royalties from Athena Diagnostics and a research Grant to perform studies in cellular and animal models of Friedreich ataxia from Biomarin. J. Schulz reports Grants from BMBF (GeNeMove) Grants from EU (EUROSCA) during the conduct of the study; independent of the work presented here he receives Grants from the EU (HEALTH-F2-2010-242193). J. Schulz serves on scientific advisory boards for Lundbeck Inc., TEVA, Novartis, ForwardPharma and Lilly; he has received funding for travel and speaker honoraria from GlaxoSmithKline, Merz Pharmaceuticals, Medical Tribune, Lundbeck Inc., Pfizer Inc, Boehringer, Bayer. He serves as Editor-in-Chief of the Journal of Neurochemistry and Associate Editor for eNeuro. A.Tanguy worked for Lundbeck SAS and AbbVie Inc outside of the submitted work. A. Diallo reports no disclosures. T. Klockgether reports Grants from EU FP7 Neuromics, during the conduct of the study; personal fees from Biohaven, personal fees from ICON Clinical Research, personal fees from Atheneum, outside the submitted work.
: The study was approved by the ethics committees of the participating centres and has therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. Written informed consent was obtained from all study participants.