Analysis of C9orf72 repeat length in progressive supranuclear palsy, corticobasal syndrome, corticobasal degeneration, and atypical parkinsonism
Intermediate expansions in C9orf72 do not appear to be a genetic risk factor for PSP, CBS, CBD, or atypical parkinsonism. They are not associated with age at onset, disability, or survival in our study.
Authors
- Raquel Real (ORCID: https://orcid.org/0000-0001-8117-742X)
- Marte Theilmann Jensen (ORCID: https://orcid.org/0000-0002-3727-9477)
- Riona Fumi (ORCID: https://orcid.org/0009-0007-4917-6559)
- Tamás Révész (ORCID: https://orcid.org/0000-0003-2501-0259)
- Thomas T. Warner (ORCID: https://orcid.org/0000-0001-6195-6995)
- Lesley Wu (ORCID: https://orcid.org/0000-0001-5464-5603)
- Megan Hodgson
- James Benedict Rowe (ORCID: https://orcid.org/0000-0001-7216-8679)
- David Vaughan (ORCID: https://orcid.org/0000-0001-7303-6416)
- Edwin Jabbari (ORCID: https://orcid.org/0000-0001-6844-882X)
- Zane Jaunmuktane (ORCID: https://orcid.org/0000-0001-7738-8881)
- Jonathan D. Rohrer (ORCID: https://orcid.org/0000-0002-6155-8417)
- Danielle Lux
- Huw R. Morris (ORCID: https://orcid.org/0000-0002-5473-3774)
Institutions
- Queen Mary University of London (GB)
- MRC Cognition and Brain Sciences Unit (GB)
- University of Cambridge (GB)
- UK Dementia Research Institute (GB)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
Publication Details
- Journal
- Journal of Neurology
- Published
- 2025-03-26
- DOI
- https://doi.org/10.1007/s00415-025-12990-9
- Citations
- 2
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 2.78
Funders
- Wellcome
- National Institute for Health and Care Research
- Department of Health and Social Care
- University of Cambridge
- Progressive Supranuclear Palsy Association
- Medical Research Council
- NIHR Cambridge Biomedical Research Centre
- Cambridge Centre for Parkinson-Plus