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UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia
Lianne Maria Reus, Sean W. Willemse, Sterre C.M. de Boer, Julie De Houwer, Willem Lucas Hartog, Merel O. Mol, Jeroen van Rooij, Niccoló Tesi et al.. Annals of Neurology, 2025-04-11
Topic: Brain proteins, microglia and lab models
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.
Key findings
- UNC13A (rs12608932-CC) is associated with both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and shortens survival in ALS.
- 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.
Why it matters
In 626 patients with frontotemporal dementia, homozygosity for rs12608932-C in UNC13A was associated with shorter survival. This has implications for patient counselling and trial design, but does not provide a treatment, cure or prevention.
Study details
- Participants626
- Evidence strengthLow
How this study scored 48/100
Published in a leading specialty journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Annals of Neurology) |
| Journal's citation record | 3 / 4 | Annals of Neurology: journal h-index 437 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 4 / 5 | 2025 — within 3 year(s) of the newest study here |
| Sample size | 2 / 4 | 626 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 1 / 7 | Cited 3 times (OpenAlex, 2026-10-10) |
| Citations per year | 1 / 5 | 1.0 citations a year over 3 year(s) since 2025 |
| Impact for its field and year | 2 / 6 | Cited 1.7× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 1 / 4 | Cited 3 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Yolande A.L. Pijnenburg: h-index 83 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | University of California, Los Angeles: institution h-index 1,923 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 7 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 40214138) |
| Free to read | 2 / 2 | Free to read |
| Total | 48 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
APA 7th
Reus, L. M., Willemse, S. W., de Boer, S. C., De Houwer, J., Hartog, W. L., Mol, M. O., et al. (2025). UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia. Annals of Neurology. https://doi.org/10.1002/ana.27245
Vancouver
Reus LM, Willemse SW, de Boer SC, De Houwer J, Hartog WL, Mol MO, et al. UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia. Annals of Neurology. 2025. doi:10.1002/ana.27245. PMID: 40214138.
BibTeX
@article{reus2025-40214138,
author = {Reus, Lianne Maria and Willemse, Sean W. and de Boer, Sterre C.M. and De Houwer, Julie and Hartog, Willem Lucas and Mol, Merel O. and van Rooij, Jeroen and Tesi, Niccoló and others},
title = {{UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia}},
journal = {Annals of Neurology},
year = {2025},
doi = {10.1002/ana.27245},
pmid = {40214138},
url = {https://doi.org/10.1002/ana.27245}
}
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