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Genetic contributions to Alzheimer’s disease and frontotemporal dementia in admixed Latin American populations
Juliana Acosta‐Uribe, Stefanie Danielle Piña‐Escudero, J. Nicholas Cochran, Jared W. Taylor, P. Alejandra Castruita, Caroline Jonson, Erin A. Barinaga, Kevin Roberts et al.. npj Dementia, 2026-01-21
Topic: Amyloid, tau and blood-test diagnosis
Latin America’s diverse genetic landscape provides a unique opportunity to study Alzheimer’s disease (AD) and frontotemporal dementia (FTD). The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat) recruited 2162 participants with AD, FTD, or healthy controls from six countries: Argentina, Brazil, Chile, Colombia, Mexico, and Peru. Participants underwent genomic sequencing, and population structure analyses were conducted using Principal Component Analysis and ADMIXTURE. The study revealed a predominant mix of American, African, and European ancestries, with an additional East Asian component in Brazil. Variant curation identified 17 pathogenic variants, a pathogenic C9orf72 expansion, and 44 variants of uncertain significance. Seventy families showed autosomal dominant inheritance, with 48 affected by AD and 22 by FTD. This represents the first large-scale genetic study of AD and FTD in Latin America, highlighting the need to consider diverse ancestries, social determinants of health, and cultural factors when assessing genetic risk for neurodegenerative diseases.
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APA 7th
Acosta‐Uribe, J., Piña‐Escudero, S. D., Cochran, J. N., Taylor, J. W., Castruita, P. A., Jonson, C., et al. (2026). Genetic contributions to Alzheimer’s disease and frontotemporal dementia in admixed Latin American populations. npj Dementia. https://doi.org/10.1038/s44400-025-00025-z
Vancouver
Acosta‐Uribe J, Piña‐Escudero SD, Cochran JN, Taylor JW, Castruita PA, Jonson C, et al. Genetic contributions to Alzheimer’s disease and frontotemporal dementia in admixed Latin American populations. npj Dementia. 2026. doi:10.1038/s44400-025-00025-z. PMID: 41586258.
BibTeX
@article{acostauribe2026-41586258,
author = {Acosta‐Uribe, Juliana and Piña‐Escudero, Stefanie Danielle and Cochran, J. Nicholas and Taylor, Jared W. and Castruita, P. Alejandra and Jonson, Caroline and Barinaga, Erin A. and Roberts, Kevin and others},
title = {{Genetic contributions to Alzheimer’s disease and frontotemporal dementia in admixed Latin American populations}},
journal = {npj Dementia},
year = {2026},
doi = {10.1038/s44400-025-00025-z},
pmid = {41586258},
url = {https://doi.org/10.1038/s44400-025-00025-z}
}
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.
Key findings
- The study revealed a predominant mix of American, African, and European ancestries, with an additional East Asian component in Brazil.
Why it matters
This first large-scale genetic study of Alzheimer's disease and frontotemporal dementia in Latin America identified pathogenic variants and families with autosomal dominant inheritance. It highlights the need to consider diverse ancestries and social factors when assessing genetic risk, but reports no treatment, cure or prevention.
Study details
- Participants2,162
- Evidence strengthLow
How this study scored 48/100
Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (npj Dementia) |
| Journal's citation record | 0 / 4 | Npj Dementia: journal h-index 10 (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 | 5 / 5 | 2026 — within 1 year(s) of the newest study here |
| Sample size | 3 / 4 | 2,162 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 | 1.5 citations a year over 2 year(s) since 2026 |
| Impact for its field and year | 4 / 6 | Cited 12.5× 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 | 2 / 4 | Last-listed author Jennifer S. Yokoyama: h-index 49 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | National Institutes of Health: institution h-index 2,723 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 30 institution(s) in 9 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 41586258) |
| Free to read | 2 / 2 | Free to read |
| Total | 48 / 100 | — |
What each of these 20 components measures, and what this score is not →
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