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Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Plasma p-tau231 in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: A cross-sectional and longitudinal cohort study

Authors

Vincent Malotaux, Nicholas J Ashton, Annika Öhrfelt, Yinghua Chen, Yi Su, Gloria Garcia-Ospina, Claudia Guzman-Martínez, Andres Villegas-Lanau, Johana Gómez-Ramirez, Margarita Giraldo-Chica, David Aguillon, Victoria Tirado, Ana Baena, Claudia Munoz, Natalia Acosta-Baena, Jeremy J Pruzin, Valentina Ghisays, Silvia Rios-Romenets, Clara Vila-Castelar, Jairo E Martínez, Averi Giudicessi, Pierre N Tariot, Henrik Zetterberg, Kaj Blennow, Eric M Reiman, Yakeel T Quiroz

Abstract

Alzheimers Dement. 2025 Jul;21(7):e70421. doi: 10.1002/alz.70421.

ABSTRACT

INTRODUCTION: Plasma phosphorylated tau (p-tau)-231 is a promising biomarker for Alzheimer's disease (AD), particularly in preclinical stages. We evaluated its diagnostic value in presenilin 1 (PSEN1) E280A mutation carriers versus non-carriers and compared it to p-tau217 and neurofilament light chain (NfL).

METHODS: We analyzed plasma p-tau231 in 722 carriers and 640 non-carriers (ages 18-75). Longitudinal data from 164 carriers and 132 non-carriers were available, with 137 carriers and 109 non-carriers having p-tau231, p-tau217, and NfL levels. Analyses used linear mixed effects models and restricted cubic splines.

RESULTS: E280A carriers had higher p-tau231 levels than non-carriers (9.0 ± 7.4 vs. 5.2 ± 3.4 pg/mL, P < 0.001). Baseline p-tau231 levels correlated with age, distinguishing carriers at age 23. Rates of change differed at age 19, ≈ 25 years before cognitive impairment. In a subset, p-tau231 changes differentiated carriers by age 20, earlier than p-tau217 and NfL.

DISCUSSION: Plasma p-tau231 is a sensitive biomarker for early AD detection and progression monitoring.

HIGHLIGHTS: Plasma phosphorylated tau (p-tau)231 levels are associated with age in presenilin 1 carriers and non-carriers. Baseline p-tau231 levels diverged between carriers and non-carriers at age 23. Plasma p-tau231 changes distinguished carriers by age 19, at very early stages. P-tau231 longitudinal changes differentiate carriers earlier than p-tau217 or neurofilament light chain.

PMID:40588692 | DOI:10.1002/alz.70421

UK DRI Authors

Profile picture of Henrik Zetterberg

Prof Henrik Zetterberg

Group Leader

Pioneering the development of fluid biomarkers for dementia

Prof Henrik Zetterberg