A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia

Funding

This work was supported by the German Ministry of Education and Research (BMBF, DYSTRACT consortium, 01GM1514B , to K.L. and A.M.) and the Possehl-Stiftung (Lübeck, A.M.). Dr. Sinem Tunc is supported by Deutsche Forschungsgemeinschaft (DFG; SFB 936/project C5 and the Margot and Jürgen Wessel Stiftung in Lübeck. She received travel grants from the Movement Disorders Society, Merz and Actelion Pharmaceuticals. Dr. Jonas Denecke has no disclosures relevant to the manuscript. Luisa Olschewski has no disclosures relevant to the manuscript. Dr. Davor Lessel has no disclosures relevant to the manuscript. Prof. Tobias Bäumer is supported by the Possehl-Stiftung, Lübeck, the Bundesministerium für Bildung und Forschung (BMBF): DysTract consortium, and the Innovationsausschuss of the Gemeinsamer Bundesausschuss: Translate NAMSE (structural support for the Lübeck Center for Rare Diseases). He received honaria from Merz Pharmaceuticals, Ipsen Pharma, and Allergan. He served on the scientific advisory board for Merz Pharmaceuticals. Prof. Alexander Münchau is the Speaker of the Lübeck Centre for Rare Diseases. He is a member of the advisory board of the Tourette Gesellschaft Deutschland (German Tourette syndrome association). He received commercial research support with grants by Pharm Allergan, Ipsen, Merz Pharmaceuticals, Actelion, and honoraria for lectures from Pharm Allergan, Ipsen, Merz Pharmaceuticals, Actelion, GlaxoSmithKline, Desitin and Teva. He was supported from non-profit foundations or societies: Possehl-Stiftung, Lübeck; Dystonia Coalition (USA); Tourette Syndrome Association (Germany); European Huntington Disease Network; N.E.MO. Charity supporting the research of paediatric movement disorders; Ärztekammer Schleswig-Holstein; Fortbildungsakademie der Deutschen Gesellschaft für Neurologie; Förderstiftung des Universitätsklinikums Schleswig-Holstein (UKSH), the Foundation of the University Medical Center Schleswig Holstein “Gutes Tun!”. Prof. Münchau received academic research support from the European Union: Multicentre Tics in Children Studies (EMTICS) as part of the FP 7 programme (HEALTH.2011.2.2.1–3: Addictive and/or compulsive behaviour in children and adolescents: translating pre-clinical results into therapies), German Research Foundation (DFG): project „Intentional inhibition and self-control in Gilles de la Tourette syndrome “(MU 1692/3-1); DFG: project “Connectivity and plasticity in cortical motor networks in Parkin gene associated parkinsonism and dopa responsive dystonia” (SFB 936); DFG: project „Psychophysische Methoden im Kontext pharmakologischer und verhaltens-therapeutischer Ansätze zur Behandlung des Gilles de la Tourette Syndroms “(MU 1692/4–1); Bundesministerium für Bildung und Forschung (BMBF): DysTract consortium. He receives royalties from the publication of the book Neurogenetics (Oxford University Press). Prof. Katja Lohmann is supported by the German Research Foundation (DFG), German Ministry of Education and Research (BMBF, DYSTRACT consortium, 01GM1514B), and the International Parkinson's disease and Movement Disorder Society (MDS).