<scp><i>UNC13A</i></scp> Polymorphism Influences Survival in Patients with Frontotemporal Dementia
UNC13A (rs12608932-CC) is associated with both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and shortens survival in ALS. We aim to describe the association for UNC13A and survival in FTD. We included 626 patients with FTD from Dutch memory clinics, including a subcohort of 150 patients with TDP-43 pathology. Survival analyses were performed using Cox proportional hazard models in a recessive manner. Homozygosity for rs12608932-C in UNC13A was associated with a shorter survival compared with other genotypes (hazard ratio [HR] = 1.28, 95% confidence interval [CI] = 1.02-1.60, p = 0.033), which has implications for patient counselling and trial design. ANN NEUROL 2025;97:1062-1066.
Authors
- Marc Hulsman (ORCID: https://orcid.org/0000-0002-9889-3606)
- John Cornelis Van Swieten (ORCID: https://orcid.org/0000-0001-6278-6844)
- Laura Donker Kaat (ORCID: https://orcid.org/0009-0007-2436-0931)
- Jeroen van Rooij (ORCID: https://orcid.org/0000-0001-9754-073X)
- Merel O. Mol (ORCID: https://orcid.org/0000-0003-2533-2530)
- Lianne M. Reus (ORCID: https://orcid.org/0000-0001-6936-242X)
- Henne Holstege (ORCID: https://orcid.org/0000-0002-7688-3087)
- Harro Seelaar (ORCID: https://orcid.org/0000-0003-1989-7527)
- Sven J. van der Lee (ORCID: https://orcid.org/0000-0003-1606-8643)
- Leonard H. van den Berg (ORCID: https://orcid.org/0000-0002-6559-3965)
- Jan De Houwer (ORCID: https://orcid.org/0000-0003-0488-5224)
- Wouter van Rheenen (ORCID: https://orcid.org/0000-0002-5860-1533)
- Michael A. van Es (ORCID: https://orcid.org/0000-0002-7709-5883)
- Sterre C.M. de Boer (ORCID: https://orcid.org/0000-0002-9595-7221)
- Sean W. Willemse (ORCID: https://orcid.org/0000-0002-0198-5740)
- Everard G.B. Vijverberg (ORCID: https://orcid.org/0000-0003-3879-884X)
- Willem L. Hartog
- Yolande A.L. Pijnenburg (ORCID: https://orcid.org/0000-0003-2464-1905)
- Niccoló Tesi (ORCID: https://orcid.org/0000-0002-1413-5091)
- Jan H. Veldink
Institutions
- University of California, Los Angeles (US)
- Erasmus MC (NL)
- University Medical Center Utrecht (NL)
- Amsterdam Neuroscience (NL)
- Amsterdam University Medical Centers (NL)
- Vrije Universiteit Amsterdam (NL)
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Delft University of Technology (NL)
Publication Details
- Journal
- Annals of Neurology
- Published
- 2025-04-11
- DOI
- https://doi.org/10.1002/ana.27245
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Vanderbilt University Medical Center
- Stichting Dioraphte
- Alzheimer Nederland
- Amsterdam Neuroscience