UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia
Publication date
2025-06
Authors
Reus, Lianne M.
Willemse, Sean W.
de Boer, Sterre C.M.
De Houwer, Julie
Hartog, Willem L.
Mol, Merel O.
van Rooij, Jeroen G.J.
Tesi, Niccolo
Donker Kaat, Laura
Hulsman, Marc
Editors
Advisors
Supervisors
Document Type
Article
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Abstract
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.
Keywords
Neurology, Clinical Neurology
Citation
Reus, L M, Willemse, S W, de Boer, S C M, De Houwer, J, Hartog, W L, Mol, M O, van Rooij, J G J, Tesi, N, Donker Kaat, L, Hulsman, M, Vijverberg, E G B, Holstege, H, van Rheenen, W, Veldink, J H, van den Berg, L H, van Swieten, J C, Seelaar, H, van der Lee, S J, van Es, M A & Pijnenburg, Y A L 2025, 'UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia', Annals of Neurology, vol. 97, no. 6, pp. 1062-1066. https://doi.org/10.1002/ana.27245