Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase
Our data confirm and expand the role of dominant ATP5F1A and ATP5F1B variants in neurodevelopmental movement disorders. ATP5F1A/ATP5F1B-related ATPase diseases should be considered as a cause of dystonia, HSP, and CP. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Michael Zech (ORCID: https://orcid.org/0000-0001-8112-9153)
- Magdalena Krygier (ORCID: https://orcid.org/0000-0002-6607-5983)
- Volker Kittke (ORCID: https://orcid.org/0000-0001-8866-1388)
- Virginie Pichon
- Philip Harrer
- Anna Grisold (ORCID: https://orcid.org/0000-0002-5619-4858)
- Maria Mazurkiewicz‐Bełdzińska (ORCID: https://orcid.org/0000-0002-9405-5066)
- Robert Jech (ORCID: https://orcid.org/0000-0002-9732-8947)
- Georgi Krastev (ORCID: https://orcid.org/0000-0002-2904-3317)
- Holger Prokisch (ORCID: https://orcid.org/0000-0003-2379-6286)
- Sara Silvaieh
- Jean‐Madeleine de Sainte Agathe (ORCID: https://orcid.org/0000-0002-7753-8226)
- Ján Necpál (ORCID: https://orcid.org/0000-0002-4626-9588)
- Ivana Dzinovic
- Martin Krenn (ORCID: https://orcid.org/0000-0003-3026-3082)
- Robert Kopajtich (ORCID: https://orcid.org/0000-0002-9119-3455)
- Matěj Škorvánek (ORCID: https://orcid.org/0000-0001-5497-8715)
- Marlène Malbos
- Juliane Winkelmann (ORCID: https://orcid.org/0000-0002-2778-9027)
- Alice Saparov
- Clarisse Scherer
- Martin Danis
Institutions
- Université Paris Cité (FR)
- University of Pavol Jozef Šafárik (SK)
- Charles University (CZ)
- Helmholtz Zentrum München (DE)
- Sorbonne Université (FR)
- Technická univerzita vo Zvolene (SK)
- Univerzitná Nemocnica Louisa Pasteura (SK)
- Centre Hospitalier Universitaire d'Angers (FR)
- Munich Cluster for Systems Neurology (DE)
- Institute for Advanced Study (DE)
- General University Hospital in Prague (CZ)
- Technical University of Munich (DE)
- Gdańsk Medical University (PL)
- Medical University of Vienna (AT)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-04-25
- DOI
- https://doi.org/10.1002/mds.30209
- Citations
- 5
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 4.55
Funders
- Australian Government
- European Commission
- Deutsche Forschungsgemeinschaft
- Bundesministerium für Bildung und Forschung
- Else Kröner-Fresenius-Stiftung
- Technische Universität München