A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features.

Autor: Brücke C; Department of Neurology, Medical University Vienna, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria., Al-Azzani M; University Medical Center Göttingen, Department of Experimental Neurodegeneration, Center for Biostructural Imaging of Neurodegeneration, Göttingen, Germany., Ramalingam N; Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United State., Ramón M; University Medical Center Göttingen, Department of Experimental Neurodegeneration, Center for Biostructural Imaging of Neurodegeneration, Göttingen, Germany., Sousa RL; University Medical Center Göttingen, Department of Experimental Neurodegeneration, Center for Biostructural Imaging of Neurodegeneration, Göttingen, Germany., Buratti F; Max Planck Laboratory for Structural Biology, Chemistry and Molecular Biophysics of Rosario (MPLbioR, UNR-MPINAT), Partner Laboratory of the Max Planck Institute for Multidisciplinary Sciences (MPINAT, MPG). Centro de Estudios Interdisciplinarios, Universidad Nacional de Rosario, Rosario, Argentina., Zech M; Institute of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.; Institute of Neurogenomics, Helmholtz Munich, Deutsches Forschungszentrum Für Gesundheit Und Umwelt (GmbH), Ingolstädter Landstraße 1, 85764, Neuherberg, Germany., Sicking K; University Medical Center Göttingen, Institute for Neuropathology, Göttingen, 37077 Germany.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA., Amaral L; University Medical Center Göttingen, Department of Experimental Neurodegeneration, Center for Biostructural Imaging of Neurodegeneration, Göttingen, Germany.; CBMA - Centre of Molecular and Environmental Biology, School of Sciences, University of Minho, 4710-057 Braga, Portugal., Gelpi E; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria.; Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University Vienna, Austria., Chandran A; Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, The Keith Peters Building, Hills Road, Cambridge, CB2 0XY, UK., Agarwal A; Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, The Keith Peters Building, Hills Road, Cambridge, CB2 0XY, UK., Chaves SR; CBMA - Centre of Molecular and Environmental Biology, School of Sciences, University of Minho, 4710-057 Braga, Portugal., Fernández CO; Max Planck Laboratory for Structural Biology, Chemistry and Molecular Biophysics of Rosario (MPLbioR, UNR-MPINAT), Partner Laboratory of the Max Planck Institute for Multidisciplinary Sciences (MPINAT, MPG). Centro de Estudios Interdisciplinarios, Universidad Nacional de Rosario, Rosario, Argentina., Dettmer U; Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United State., Lautenschläger J; Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, The Keith Peters Building, Hills Road, Cambridge, CB2 0XY, UK., Zweckstetter M; Department for NMR-based Structural Biology, Max Planck Institute for Multidisciplinary Sciences, Am Faßberg 11, 37077, Göttingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Von-Siebold-Str. 3a, 37075 Göttingen, Germany., Busnadiego RF; University Medical Center Göttingen, Institute for Neuropathology, Göttingen, 37077 Germany.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, 37077, Germany.; Faculty of Physics, University of Göttingen, Göttingen, 37077, Germany., Zimprich A; Department of Neurology, Medical University Vienna, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria., Outeiro TF; University Medical Center Göttingen, Department of Experimental Neurodegeneration, Center for Biostructural Imaging of Neurodegeneration, Göttingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Von-Siebold-Str. 3a, 37075 Göttingen, Germany.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle Upon Tyne, NE2 4HH, UK.; Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Oct 25. Date of Electronic Publication: 2024 Oct 25.