ArticleBrain : a journal of neurology2021
Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.
Article in Brain : a journal of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Blood-based biomarkers for Alzheimer's disease in Down syndrome: A systematic review and meta-analysis.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Pooled it
- Presymptomatic plasma biomarkers in autosomal dominant Alzheimer's disease: sequence and timing.medRxiv : the preprint server for health sciences · 2026Article
- Clinical, neuroimaging, and biomarker profiling of four Alzheimer's disease pedigrees caused by pathogenic APP variants.Alzheimer's research & therapy · 2026Article
- Unbiased data-driven analysis of five amyloid-beta peptides for biomarker investigations in familial Alzheimer's disease.Brain communications · 2026Article
- Phenotypic variability in early-onset dementia segregating with a novel APP (p.I718M) variant.Alzheimer's research & therapy · 2025Article
- Plasma and cerebrospinal fluid biomarkers in aged dogs with cognitive decline.BMC veterinary research · 2025Article
- Circulating Biomarkers for the Early Diagnosis of Alzheimer's Disease.International journal of molecular sciences · 2025Review
- The case for regulatory approval of amyloid-lowering immunotherapies in Alzheimer's disease based on clearcut biomarker evidence.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Review
- The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Clinical and research application of fluid biomarkers in autosomal dominant Alzheimer's disease and Down syndrome.EBioMedicine · 2024Review
- Gene-variant specific effects of plasma amyloid-β levels in Swedish autosomal dominant Alzheimer disease.Alzheimer's research & therapy · 2024Article
- The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Characterization of preclinical Alzheimer's disease model: spontaneous type 2 diabetic cynomolgus monkeys with systemic pro-inflammation, positive biomarkers and developing AD-like pathology.Alzheimer's research & therapy · 2024Article
- Physiopathological mechanisms underlying Alzheimer's disease: a narrative review.Dementia & neuropsychologia · 2024Review
- Clinical utility of plasma Aβ42/40 ratio by LC-MS/MS in Alzheimer's disease assessment.Frontiers in neurology · 2024Article
- Clinical utility of plasma Aβ42/40 ratio by LC-MS/MS in Alzheimer's disease assessment.medRxiv : the preprint server for health sciences · 2023Article
- 3D bioengineered neural tissue generated from patient-derived iPSCs mimics time-dependent phenotypes and transcriptional features of Alzheimer's disease.Molecular psychiatry · 2023Article
- Revisiting Circulating Extracellular Matrix Fragments as Disease Markers in Myelofibrosis and Related Neoplasms.Cancers · 2023Review
- Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.Molecular psychiatry · 2022Article
- Variant-dependent heterogeneity in amyloid β burden in autosomal dominant Alzheimer's disease: cross-sectional and longitudinal analyses of an observational study.The Lancet. Neurology · 2022Observational
Corrections and comments
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Authors and funding
21 authors at 6 institutions in 3 countries.
Funding
Abstract
In vitro studies of autosomal dominant Alzheimer's disease implicate longer amyloid-β peptides in disease pathogenesis; however, less is known about the behaviour of these mutations in vivo. In this cross-sectional cohort study, we used liquid chromatography-tandem mass spectrometry to analyse 66 plasma samples from individuals who were at risk of inheriting a mutation or were symptomatic. We tested for differences in amyloid-β (Aβ)42:38, Aβ42:40 and Aβ38:40 ratios between presenilin 1 (PSEN1) and amyloid precursor protein (APP) carriers. We examined the relationship between plasma and in vitro models of amyloid-β processing and tested for associations with parental age at onset. Thirty-nine participants were mutation carriers (28 PSEN1 and 11 APP). Age- and sex-adjusted models showed marked differences in plasma amyloid-β between genotypes: higher Aβ42:38 in PSEN1 versus APP (P < 0.001) and non-carriers (P < 0.001); higher Aβ38:40 in APP versus PSEN1 (P < 0.001) and non-carriers (P < 0.001); while Aβ42:40 was higher in both mutation groups compared to non-carriers (both P < 0.001). Amyloid-β profiles were reasonably consistent in plasma and cell lines. Within the PSEN1 group, models demonstrated associations between Aβ42:38, Aβ42:40 and Aβ38:40 ratios and parental age at onset. In vivo differences in amyloid-β processing between PSEN1 and APP carriers provide insights into disease pathophysiology, which can inform therapy development.
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Registered trials
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.