Motor phenotypes and neurofilament light chain in genetic amyotrophic lateral sclerosis—results from a multicenter screening program
In C9orf72-ALS, the phenotype and NfL profile are close to typical ALS. The finding of distinct phenotypes and NfL patterns in SOD1-, FUS- and TARDBP-associated ALS underscores the relevance of genetic ALS for prognostic counseling, clinical trial design, treatment expectations and unraveling of pathogenic mechanisms in ALS.
Authors
- René Günther (ORCID: https://orcid.org/0000-0003-0329-5644)
- Patrick Weydt (ORCID: https://orcid.org/0000-0003-2344-5662)
- Petra Baum (ORCID: https://orcid.org/0000-0002-6926-4907)
- Sarah Bernsen (ORCID: https://orcid.org/0000-0001-7485-2626)
- Jenny Nordén
- Robert Steinbach (ORCID: https://orcid.org/0000-0003-3936-6010)
- Hsuen-Ju Lin
- Bertram Walter (ORCID: https://orcid.org/0000-0001-9086-5179)
- Christoph Münch (ORCID: https://orcid.org/0000-0001-9603-0623)
- David C. Kasper (ORCID: https://orcid.org/0000-0003-0534-6388)
- Péter Körtvelyessy (ORCID: https://orcid.org/0000-0003-1262-6169)
- Peggy Schumann
- Thomas Meyer (ORCID: https://orcid.org/0000-0002-2736-7350)
- Jochen Hans Weishaupt (ORCID: https://orcid.org/0000-0002-3399-9784)
- Dagmar Kettemann (ORCID: https://orcid.org/0000-0001-5084-8526)
- André Maier (ORCID: https://orcid.org/0000-0003-2473-4116)
- Torsten Grehl (ORCID: https://orcid.org/0000-0002-0631-6976)
- Moritz Metelmann (ORCID: https://orcid.org/0000-0002-8670-6148)
- Alexander Koerbs
- Yasemin Koc
- Susanne Spittel (ORCID: https://orcid.org/0000-0001-9471-7798)
- Ute Weyen
- Julian Großkreutz (ORCID: https://orcid.org/0000-0001-9525-1424)
- Berthold Streubel
- Philipp Schmitt (ORCID: https://orcid.org/0009-0008-1643-0079)
- Susanne Petri
- Annekathrin Rödiger
- Joachim Wolf
Institutions
- University of Bonn (DE)
- Universität Ulm (DE)
- German Center for Neurodegenerative Diseases (DE)
- Medizinische Hochschule Hannover (DE)
- Humboldt-Universität zu Berlin (DE)
- University Hospital Leipzig (DE)
- Diakonissenkrankenhaus (DE)
- Jena University Hospital (DE)
- BG University Hospital Bergmannsheil Bochum (DE)
- Amedes Genetics (Germany) (DE)
- Alfried Krupp Hospital (DE)
- University Hospital Carl Gustav Carus (DE)
- Medical University of Vienna (AT)
- Technische Universität Dresden (DE)
- University of Lübeck (DE)
Publication Details
- Journal
- Journal of Neurology
- Published
- 2025-12-12
- DOI
- https://doi.org/10.1007/s00415-025-13555-6
- Citations
- 2
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 2.78