A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features
The atypical neuropathological features observed, which are reminiscent of those observed for the G51D aSyn variant, suggest a causal role of the SNCA variant with a distinct clinical and pathological phenotype, which is further supported by the properties of the mutant aSyn.
Authors
- Nagendran Ramalingam (ORCID: https://orcid.org/0000-0002-9459-3593)
- Michael Zech (ORCID: https://orcid.org/0000-0001-8112-9153)
- Mohammed Al‐Azzani (ORCID: https://orcid.org/0000-0003-2864-0854)
- Susana R. Chaves (ORCID: https://orcid.org/0000-0002-6004-9872)
- Claudio O. Fernández (ORCID: https://orcid.org/0000-0003-0454-7735)
- Alexander Zimprich (ORCID: https://orcid.org/0000-0002-1668-5177)
- Fiamma A. Buratti (ORCID: https://orcid.org/0000-0001-5749-9883)
- 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)
- Janin Lautenschläger (ORCID: https://orcid.org/0000-0001-7788-7074)
- Ellen Gelpí (ORCID: https://orcid.org/0000-0003-2948-4187)
- Rubén Fernández‐Busnadiego (ORCID: https://orcid.org/0000-0002-8366-7622)
- Aishwarya Agarwal (ORCID: https://orcid.org/0009-0000-5229-4846)
- Maria Ramón
- Christof Brücke (ORCID: https://orcid.org/0000-0003-4640-2577)
- Tiago Fleming Outeiro
- Kevin Sicking
- Leslie Amaral
- Rita L. Sousa
Institutions
- Brigham and Women's Hospital (US)
- German Center for Neurodegenerative Diseases (DE)
- Helmholtz Zentrum München (DE)
- National University of Rosario (AR)
- Cambridge School (PT)
- Universitätsmedizin Göttingen (DE)
- Nanoscale Microscopy and Molecular Physiology of the Brain Cluster of Excellence 171 — DFG Research Center 103 (DE)
- Max Planck Institute for Biophysical Chemistry (DE)
- Max Planck Institute of Experimental Medicine (DE)
- Research Network (United States) (US)
- Max Planck Institute for Multidisciplinary Sciences (DE)
- Technical University of Munich (DE)
- University of Göttingen (DE)
- Medical University of Vienna (AT)
- Newcastle University (GB)
- University of Minho (PT)
Publication Details
- Journal
- Molecular Neurodegeneration
- Published
- 2025-09-26
- DOI
- https://doi.org/10.1186/s13024-025-00889-y
- Primary Topic
- Parkinson's Disease Mechanisms and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Michael J. Fox Foundation for Parkinson's Research
- Australian Government
- Deutsche Forschungsgemeinschaft
- Bundesministerium für Bildung und Forschung
- Else Kröner-Fresenius-Stiftung
- Technische Universität München
- National Institutes of Health