Evidence map›Paper›PMID 41704845›Full record

ArticleFrontiers in neuroscience2025

Heterozygous TREM2 (p.W44X) and PSEN1 (p.A431T) mutations in two Peruvian families with familial Alzheimer's disease: expanding the genetic landscape in underrepresented populations.

Claudio Villegas-Llerena, Solange R Paredes-Moscosso, María Luisa Guevara-Fujita, Daisy Obispo, Nilton Custodio, Rosa Montesinos, José F Parodi, Oscar Flores-Flores, John Hardy, Ricardo Fujita

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Article in Frontiers in neuroscience, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Claudio Villegas-LlerenaCentro de Investigación de Genética y Biología Molecular (CIGBM), Instituto de Investigación, Facultad de Medicina Humana, Universidad de San Martin de Porres, Lima, Peru.
Solange R Paredes-MoscossoCentro de Investigación de Genética y Biología Molecular (CIGBM), Instituto de Investigación, Facultad de Medicina Humana, Universidad de San Martin de Porres, Lima, Peru.
María Luisa Guevara-FujitaCentro de Investigación de Genética y Biología Molecular (CIGBM), Instituto de Investigación, Facultad de Medicina Humana, Universidad de San Martin de Porres, Lima, Peru.
Daisy ObispoCentro de Investigación de Genética y Biología Molecular (CIGBM), Instituto de Investigación, Facultad de Medicina Humana, Universidad de San Martin de Porres, Lima, Peru.
Nilton CustodioResearch Unit, Instituto Peruano de Neurociencias, Lima, Peru.
Rosa MontesinosResearch Unit, Instituto Peruano de Neurociencias, Lima, Peru.
José F ParodiUniversidad de San Martín de Porres, Facultad de Medicina, Centro de Investigación del Envejecimiento, Lima, Peru.
Oscar Flores-FloresUniversidad de San Martín de Porres, Facultad de Medicina, Centro de Investigación del Envejecimiento, Lima, Peru.
John HardyDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Ricardo FujitaCentro de Investigación de Genética y Biología Molecular (CIGBM), Instituto de Investigación, Facultad de Medicina Humana, Universidad de San Martin de Porres, Lima, Peru.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Alzheimer's disease (AD) accounts for up to 70% of all dementia cases, affecting an estimated 23-35 million people worldwide. According to the World Health Organization (WHO), the number of AD cases in Latin America, including Peru, is expected to quadruple by 2050. However, these populations remain underrepresented in research, diagnostics, and care. Early-onset Alzheimer's disease (EOAD), characterized by symptom onset before the age of 65, has been shown to have a strong genetic component, making it valuable for genetic studies. Identifying EOAD-associated mutations in underrepresented populations is crucial for uncovering pathogenic variants that may provide new insights into the disease's mechanisms. In this article, we present two Peruvian families with early and late onset AD in whom whole-exome sequencing (WES) revealed heterozygous variants associated with AD. In family AD002, we found a heterozygous variant in

Indexed as

Alzheimer’s diseasegeneticsLatin AmericamutationPSEN1TREM2

Identifiers

PMID41704845
PMCPMC12907367

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.