Year: 2025
Type: article
Study design: Observational Study
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.
Source: Annals of Neurology
DOI: 10.1002/ana.27245
Authors: Lianne M. Reus, Sean W. Willemse, Sterre C.M. de Boer, Julie De Houwer, Willem L. Hartog, Merel O. Mol, Jeroen G. J. van Rooij, Niccolo Tesi, Laura Donker Kaat, Marc Hulsman, Everard G. B. Vijverberg, Henne Holstege, Wouter van Rheenen, Jan H. Veldink, Leonard H. van den Berg, John C. van Swieten, H. Seelaar, Sven J. van der Lee, Michael A. van Es, Yolande A. L. Pijnenburg
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $4,700
OpenAlex ID: W4409364919