Work

New Progressive Generalized Dystonia Phenotype in a Patient with NBEA ‐Related Neurodevelopmental Disease

Year: 2025

Type: article

Abstract: Ethical Compliance Statement: This study was approved by the Technical University of Munich. Written informed consent for publishing genetic and clinical data, including videos was obtained from the patient. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this work is consistent with those guidelines. Funding sources and Conflicts of Interest: This work was supported by funding from the EJP RD (EJP RD Joint Transnational Call 2022) and the German Federal Ministry of Education and Research (BMBF, Bonn, Germany), awarded to the project PreDYT (PREdictive biomarkers in DYsTonia, 01GM2302). This research was also supported by a “Schlüsselprojekt” grant from the Else Kröner-Fresenius-Stiftung (2022_EKSE.185). In addition, this study (MZ) has received funding from the Federal Ministry of Education and Research (BMBF) and the Free State of Bavaria under the Excellence Strategy of the Federal Government and the Länder, as well as by the Technical University of Munich-Institute for Advanced Study. MZ receives research support from the German Research Foundation (DFG 458949627; ZE 1213/2–1). The authors declare that there are no conflicts of interest relevant to this work. Financial Disclosures for the Previous 12 Months: MS received honoraria for lectures from Abbvie, Merz and Ipsen. MK received honoraria for lectures and consultancy fees from Angelini Pharma and Swixx Biopharma. ES received honoraria from Cogstate. MMB received consultant and speaker honoraria from Sanofi, Roche, Novartis, UCB, and Biogen. MMB is a PI in clinical trials for Roche, Scholar Rock, Takeda, Biohaven. The data that support the findings of this study are available from the corresponding author upon reasonable request. TABLE S1. Neuropsychological assessment results at the age of 38. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Source: Movement Disorders Clinical Practice

DOI: 10.1002/mdc3.70085

Authors: Michał Schinwelski, Magdalena Krygier, Emilia J. Sitek, Maria Mazurkiewicz‐Bełdzińska, Michael Zech

Institutions: Gdańsk Medical University, Helmholtz Munich, Institut für Humangenetik, Technical University of Munich

Language: English

Topic: Neurological disorders and treatments

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Deutsche Forschungsgemeinschaft, Bundesministerium für Bildung und Forschung