A Novel α‐Synuclein <scp>K58N</scp> Missense Variant in a Patient with Parkinson's Disease
The clinical presentation associated with the novel K58N aSyn mutation suggests a relatively benign PD course consistent with the phenotypic spectrum of idiopathic PD. Overall, our molecular studies provide novel insight into the biology and pathobiology of aSyn. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Nagendran Ramalingam (ORCID: https://orcid.org/0000-0002-9459-3593)
- Michael Zech (ORCID: https://orcid.org/0000-0001-8112-9153)
- Sandrina Weber (ORCID: https://orcid.org/0000-0001-5713-2141)
- Mohammed Al‐Azzani (ORCID: https://orcid.org/0000-0003-2864-0854)
- Gonçalo Mestre
- Susana R. Chaves (ORCID: https://orcid.org/0000-0002-6004-9872)
- Claudia Trenkwalder (ORCID: https://orcid.org/0000-0001-6407-1199)
- Claudio O. Fernández (ORCID: https://orcid.org/0000-0003-0454-7735)
- Markus Zweckstetter (ORCID: https://orcid.org/0000-0002-2536-6581)
- Ulf Dettmer (ORCID: https://orcid.org/0000-0001-6676-0107)
- Aswathy Chandran (ORCID: https://orcid.org/0000-0003-0536-114X)
- Juliane Winkelmann (ORCID: https://orcid.org/0000-0003-2667-9691)
- Janin Lautenschläger (ORCID: https://orcid.org/0000-0001-7788-7074)
- Martine Schwager
- Silke Pauli (ORCID: https://orcid.org/0000-0002-9899-9590)
- Liana Shvachiy (ORCID: https://orcid.org/0000-0002-4576-0017)
- Rubén Fernández‐Busnadiego (ORCID: https://orcid.org/0000-0002-8366-7622)
- Aishwarya Agarwal (ORCID: https://orcid.org/0009-0000-5229-4846)
- Maria Ramón
- Brit Mollenhauer (ORCID: https://orcid.org/0000-0001-8437-3645)
- Alain Ibáñez de Opakua (ORCID: https://orcid.org/0000-0003-1700-9354)
- Tiago Fleming Outeiro
- Kevin Sicking
- Vidyashree Jayanthi
- Leslie Amaral
Institutions
- Brigham and Women's Hospital (US)
- Harvard University (US)
- University of Cambridge (GB)
- German Center for Neurodegenerative Diseases (DE)
- Helmholtz Zentrum München (DE)
- National University of Rosario (AR)
- Cambridge School (PT)
- Max Planck Institute for the Study of Religious and Ethnic Diversity (DE)
- PFH Private University of Applied Sciences (DE)
- Munich Cluster for Systems Neurology (DE)
- Universitätsmedizin Göttingen (DE)
- Institute of Human Genetics (PL)
- Paracelsus Elena Klinik Kassel (DE)
- KUKA (Germany) (DE)
- Institute for Advanced Study (DE)
- Research Network (United States) (US)
- Max Planck Institute for Multidisciplinary Sciences (DE)
- Technical University of Munich (DE)
- University of Göttingen (DE)
- Newcastle University (GB)
- University of Minho (PT)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-09-04
- DOI
- https://doi.org/10.1002/mds.70030
- Citations
- 1
- Primary Topic
- Parkinson's Disease Mechanisms and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.39
Funders
- Michael J. Fox Foundation for Parkinson's Research
- Leverhulme Trust
- Royal Society
- Deutsche Forschungsgemeinschaft
- National Institutes of Health
- Fundação para a Ciência e a Tecnologia