ArticleThe Lancet. Neurology2020
Plasma neurofilament light chain in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional and longitudinal cohort study.
Article in The Lancet. Neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 papers, 1 of them a synthesis that pooled it.
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Who cites it
90 citing papers in PubMed, 1 synthesis or guideline pooled it, 157 citations in OpenAlex.
- Systematic review: fluid biomarkers and machine learning methods to improve the diagnosis from mild cognitive impairment to Alzheimer's disease.Alzheimer's research & therapy · 2023Pooled it
- Post hoc analysis of ADAMANT, a phase 2 clinical trial of active tau immunotherapy with AADvac1 in patients with Alzheimer's disease, positive for plasma p-tau217.Alzheimer's research & therapy · 2024Trial
- Multi-Omics Analysis Reveals That Aβ42- Me3 Co-Aggregation Induces Mitophagy Blockade in Early Stages of Alzheimer's Disease.MedComm · 2026Article
- Associations of plasma biomarkers with age in the presenilin-1 E280A autosomal dominant Alzheimer's disease kindred.The journal of prevention of Alzheimer's disease · 2026Observational
- Abnormalities in core AD biomarkers precede inflammatory and glial markers in CSF in Autosomal Dominant Alzheimer's Disease.medRxiv : the preprint server for health sciences · 2026Article
- Presymptomatic plasma biomarkers in autosomal dominant Alzheimer's disease: sequence and timing.medRxiv : the preprint server for health sciences · 2026Article
- Associations between trajectories of plasma biomarkers for Alzheimer's disease, brain structures, and cognitive function: a prospective cohort study in the UK Biobank.Molecular psychiatry · 2026Article
- Review
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- Plasma proteomics identifies proteins and pathways associated with incident epilepsy.Cell reports. Medicine · 2025Article
- The complement cascade in Alzheimer's disease: modern implications of an ancient immune protagonist.Molecular neurodegeneration · 2025Review
- Plasma neurofilament light reflects more severe manifestation of Alzheimer's disease in men.Molecular psychiatry · 2025Article
- Locally adapting digital health technologies to address the global challenge of Parkinson's disease.Equity neuroscience · 2025Article
- Integrating neuroinflammation biomarkers into the ATN(X) framework: Advances in Alzheimer's pathogenesis, diagnosis, and insights from non-human primate models.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Review
- Proteomic analysis of Down syndrome cerebrospinal fluid compared to late-onset and autosomal dominant Alzheimer´s disease.Nature communications · 2025Article
- Plasma p-tau231 in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: A cross-sectional and longitudinal cohort study.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Presynaptic loss and axonal degeneration synergistically correlate with longitudinal neurodegeneration and cognitive decline.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Article
- Neuromorphic deviations associated with transcriptomic expression and specific cell type in Alzheimer's disease.Scientific reports · 2025Article
- A turn-on fluorescent immunosensor for neurodegenerative disease related neurofilament light chain protein.Mikrochimica acta · 2025Article
30 more citing papers are in PubMed but not listed here.
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Authors and funding
25 authors at 8 institutions in 4 countries.
Funding
Abstract
backgroundNeurofilament light chain (NfL) is a promising biomarker of active axonal injury and neuronal degeneration. We aimed to characterise cross-sectional and longitudinal plasma NfL measurements and determine the age at which NfL concentrations begin to differentiate between carriers of the presenilin 1 (PSEN1) E280A (Glu280Ala) mutation and age-matched non-carriers from the Colombian autosomal dominant Alzheimer's disease kindred.
methodsIn this cross-sectional and longitudinal cohort study, members of the familial Alzheimer's disease Colombian kindred aged 8-75 years with no other neurological or health conditions were recruited from the Alzheimer's Prevention Initiative Registry at the University of Antioquia (Medellín, Colombia) between Aug 1, 1995, and Dec 15, 2018. We used a single molecule array immunoassay and log-transformed data to examine the relationship between plasma NfL concentrations and age, and establish the earliest age at which NfL concentrations begin to diverge between mutation carriers and non-carriers.
findingsWe enrolled a cohort of 1070 PSEN1 E280A mutation carriers and 1074 non-carriers with baseline assessments; of these participants, longitudinal measures (with a mean follow-up of 6 years) were available for 242 mutation carriers and 262 non-carriers. Plasma NfL measurements increased with age in both groups (p<0·0001), and began to differentiate carriers from non-carriers when aged 22 years (22 years before the estimated median age at mild cognitive impairment onset of 44 years), although the ability of plasma NfL to discriminate between carriers and non-carriers only reached high sensitivity close to the age of clinical onset.
interpretationOur findings further support the promise of plasma NfL as a biomarker of active neurodegeneration in the detection and tracking of Alzheimer's disease and the evaluation of disease-modifying therapies.
fundingNational Institute on Aging, National Institute of Neurological Disorders and Stroke, Banner Alzheimer's Foundation, COLCIENCIAS, the Torsten Söderberg Foundation, the Swedish Research Council, the Swedish Alzheimer Foundation, the Swedish Brain Foundation, and the Swedish state under the ALF-agreement.
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