Evidence map›Paper›PMID 42090736›Full record

Observational studyThe journal of prevention of Alzheimer's disease2026

Associations of plasma biomarkers with age in the presenilin-1 E280A autosomal dominant Alzheimer's disease kindred.

Vincent Malotaux, Vivian Ku, Paula Ospina Lopera, Yi Su, Yinghua Chen, Alpana Singh, Jonathan Ruiz-Triviño, María José Hidalgo, Laura Osorio, Laura Serna and 11 more

Abstract readObservational Study
In one paragraph

Observational study in The journal of prevention of Alzheimer's disease, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

1 citing paper in PubMed.

  1. Article
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

21 authors.

Vincent MalotauxDepartment of Psychological & Brain Sciences, Boston University, Boston, MA, USA.
Vivian KuDepartment of Psychological & Brain Sciences, Boston University, Boston, MA, USA.
Paula Ospina LoperaGrupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia.
Yi SuBanner Alzheimer's Institute, Phoenix, AZ, USA.
Yinghua ChenBanner Alzheimer's Institute, Phoenix, AZ, USA.
Alpana SinghBanner Alzheimer's Institute, Phoenix, AZ, USA.
Jonathan Ruiz-TriviñoGrupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia.
María José HidalgoGrupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia.
Laura OsorioGrupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia.
Laura SernaGrupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia.
Daniela GiraldoGrupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia.
Diana AlzateGrupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia.
Bing HeDepartment of Psychological & Brain Sciences, Boston University, Boston, MA, USA.
Catarina Tristão-PereiraDepartment of Psychological & Brain Sciences, Boston University, Boston, MA, USA.
Liliana Ramirez GomezDepartment of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Sonia Do CarmoDepartment of Pharmacology & Therapeutics, McGill University, Montreal, Quebec, Canada.
A Claudio CuelloDepartment of Pharmacology & Therapeutics, McGill University, Montreal, Quebec, Canada; Integrated Program in Neuroscience, McGill University, Montreal, Quebec, Canada; Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of Anatomy & Cell Biology, McGill University, Montreal, Quebec, Canada; Department of Pharmacology, Oxford University, Oxford, United Kingdom; Affiliated member, Karolinska Institutet, Stockholm, Sweden.
Nicholas J AshtonBanner Alzheimer's Institute, Phoenix, AZ, USA; Banner Sun Health Research Institute, Sun City, AZ, USA.
Eric M ReimanBanner Alzheimer's Institute, Phoenix, AZ, USA.
David AguillónGrupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia.
Yakeel T QuirozDepartment of Psychological & Brain Sciences, Boston University, Boston, MA, USA; Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia; Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: yquiroz@bu.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAutosomal-dominant Alzheimer's disease (ADAD) offers a model to define early biological changes in Alzheimer's disease due to its predictable age at symptom onset. Although ultrasensitive plasma assays are available, their associations with age in ADAD remain incompletely characterized.

objectivesTo characterize age-related changes in plasma biomarkers and examine associations with cognition in PSEN1 E280A ADAD. DESIGN AND

settingCross-sectional observational study in members of the Colombian PSEN1 E280A kindred.

participantsA total of 164 individuals were included, comprising 83 mutation carriers (mean age 34.36±9.82 years; 54% female) and 81 non-carriers (mean age 33.75±9.84 years; 52% female). MEASUREMENTS: Plasma Aβ42/Aβ40, phospho-tau217 (p-tau217), brain-derived tau (BD-tau), glial fibrillary acidic protein (GFAP), and neurofilament light (NfL) were quantified. Sex-adjusted associations with age, divergence ages between groups, classification performance (ROC curves), and associations with cognition (MMSE and CERAD delayed recall) were assessed.

resultsAll plasma biomarkers were associated with age (p < .01). Divergence between carriers and non-carriers began with Aβ42/Aβ40 before age 18, followed by p-tau217 (26.0 years), GFAP (26.1 years), BD-tau (27.9 years), and NfL (38.7 years). Aβ42/Aβ40 showed the highest discrimination of mutation status (AUC=0.99), followed by p-tau217 (AUC=0.87) and GFAP (AUC=0.84). Among carriers, p-tau217, GFAP, BD-tau, and NfL were associated with MMSE, while p-tau217, GFAP, and NfL predicted CERAD delayed recall.

conclusionPlasma biomarkers exhibit a temporal cascade in PSEN1 E280A ADAD. P-tau217 and GFAP show the strongest associations with early cognitive decline, suggesting their potential utility for tracking disease progression and monitoring treatment effects in E280A carriers.

Indexed as

Alzheimer DiseaseBiomarkersPresenilin-1AdultAge FactorsAmyloid beta-PeptidesColombiaCross-Sectional StudiesFemaleGlial Fibrillary Acidic ProteinHeterozygoteHumansMaleMiddle AgedMutationNeurofilament ProteinsAmyloid beta-Peptidesamyloid beta-protein (1-40)amyloid beta-protein (1-42)BiomarkersGlial Fibrillary Acidic ProteinNeurofilament ProteinsPeptide FragmentsPresenilin-1PSEN1 protein, humantau ProteinsAutosomal dominant alzheimer’s diseasePlasma biomarkers

Identifiers

PMID42090736
PMCPMC13157058

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Registered trials

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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.