UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia.
retrospective_cohort · Level III
Where this comes from
- Record sourced from PubMed, PMID 40214138.
- Also identified by DOI 10.1002/ana.27245 and PMC identifier 12082005.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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.
Medical subject headings
- Frontotemporal Dementia
- Nerve Tissue Proteins
- Polymorphism, Single Nucleotide