Evaluation of serum NFL, T-tau, p-tau181, p-tau217, Aβ40 and Aβ42 for the diagnosis of neurodegenerative diseases
-
Samy Kahouadji
, Bruno Pereira
, Vincent Sapin, Audrey Valentin
, Agathe Bonnet , Elsa Dionet , Julie Durif , Clément Lahaye , Stéphane Boisgard , Xavier Moisset and Damien Bouvier
Abstract
Objectives
To assess the variations and diagnostic performance of serum biomarkers of neurodegenerative diseases.
Methods
In this monocentric prospective study, neurofilament light (NFL), T-tau, p-tau181, p-tau217, Aβ40, and Aβ42 were measured in serum collected from orthopedic patients (control group, n=114) and patients in the neurology department (n=69) previously diagnosed with Alzheimer’s disease (AD, n=52), parkinsonian syndromes (n=10), and other etiologies of neurodegeneration (non-AD, n=7).
Results
In the control group, serum NFL, T-tau, p-tau181, p-tau217, and Aβ40 significantly increased with age, independently of sex. NFL (p=0.0078), p-tau217 (p<0.001) were significantly increased with neurodegeneration when compared to controls, with only p-tau217 significant in the multivariate analysis (p<0.001). Multivariate regression analysis accounting for age highlighted a significant increase of p-tau217 (p<0.001) in the AD subgroup. NFL was significantly increased in the non-AD patients (p<0.001), and in the parkinsonian syndromes subgroup (p=0.016) when compared to negative controls. Serum p-tau181 and p-tau217 were significantly correlated with CSF p-tau181 (Spearman’s coefficients of 0.43 and 0.48 respectively, n=40). Areas under the ROC curves for the identification of patients with neurodegenerative diseases were 0.62 (0.54–0.70) for NFL, 0.62 (0.54–0.71) for T-tau, 0.83 (0.76–0.89) for p-tau217, and 0.66 (0.58–0.74) for Aβ40.
Conclusions
Serum biomarkers can help identify patients with neurodegenerative disease and may be a valuable tool for care and orientation. Phosphorylated tau p-tau217 is a promising blood biomarker for AD and NFL for other etiologies.
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Research ethics: This research complied with the tenets of the Helsinki Declaration (as revised in 2013). It was approved by CHU de Clermont Ferrand Ethics Committee (IRB00013412, number 2022-CF72) and complied with French policy of individual data protection.
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Informed consent: Patients were informed of their right to express their disagreement regarding the use of their clinical information for research purposes.
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Author contributions: SK: Investigation, Writing - Original Draft, Data Curation. BP: Methodology, Formal analysis. VS: Writing - Review & Editing, Validation. AV: Data collection, Data Curation, Investigation, Writing – Review & Editing. AB: Data collection, Data Curation, Investigation, Writing – Review & Editing. ED: Conceptualization, Writing - Review & Editing, Supervision, Validation. JD: Investigation, Resources, Data Curation. CL: Data collection. SB: Data collection. XM: Conceptualization, Writing - Review & Editing, Supervision, Validation. DB: Conceptualization, Writing - Review & Editing, Supervision, Validation. The authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Use of Large Language Models, AI and Machine Learning Tools: None declared.
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Competing interests: The authors state no conflict of interest.
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Research funding: None declared.
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Data availability: Data is confidential and cannot be shared publicly. Data can be available for researchers who meet the criteria for access to confidential data.
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© 2024 Walter de Gruyter GmbH, Berlin/Boston
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- Advancing value-based laboratory medicine
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- Direct-to-consumer testing as consumer initiated testing: compromises to the testing process and opportunities for quality improvement
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- An improved implementation of metrological traceability concepts is needed to benefit from standardization of laboratory results
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- Comparative analysis of BCR::ABL1 p210 mRNA transcript quantification and ratio to ABL1 control gene converted to the International Scale by chip digital PCR and droplet digital PCR for monitoring patients with chronic myeloid leukemia
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Articles in the same Issue
- Frontmatter
- Editorial
- CD34+ progenitor cells meet metrology
- Reviews
- Venous blood collection systems using evacuated tubes: a systematic review focusing on safety, efficacy and economic implications of integrated vs. combined systems
- The correlation between serum angiopoietin-2 levels and acute kidney injury (AKI): a meta-analysis
- Opinion Papers
- Advancing value-based laboratory medicine
- Clostebol and sport: about controversies involving contamination vs. doping offence
- Direct-to-consumer testing as consumer initiated testing: compromises to the testing process and opportunities for quality improvement
- Perspectives
- An improved implementation of metrological traceability concepts is needed to benefit from standardization of laboratory results
- Genetics and Molecular Diagnostics
- Comparative analysis of BCR::ABL1 p210 mRNA transcript quantification and ratio to ABL1 control gene converted to the International Scale by chip digital PCR and droplet digital PCR for monitoring patients with chronic myeloid leukemia
- General Clinical Chemistry and Laboratory Medicine
- IVDCheckR – simplifying documentation for laboratory developed tests according to IVDR requirements by introducing a new digital tool
- Analytical performance specifications for trace elements in biological fluids derived from six countries federated external quality assessment schemes over 10 years
- The effects of drone transportation on routine laboratory, immunohematology, flow cytometry and molecular analyses
- Accurate non-ceruloplasmin bound copper: a new biomarker for the assessment and monitoring of Wilson disease patients using HPLC coupled to ICP-MS/MS
- Construction of platelet count-optical method reflex test rules using Micro-RBC#, Macro-RBC%, “PLT clumps?” flag, and “PLT abnormal histogram” flag on the Mindray BC-6800plus hematology analyzer in clinical practice
- Evaluation of serum NFL, T-tau, p-tau181, p-tau217, Aβ40 and Aβ42 for the diagnosis of neurodegenerative diseases
- An immuno-DOT diagnostic assay for autoimmune nodopathy
- Evaluation of biochemical algorithms to screen dysbetalipoproteinemia in ε2ε2 and rare APOE variants carriers
- Reference Values and Biological Variations
- Allowable total error in CD34 cell analysis by flow cytometry based on state of the art using Spanish EQAS data
- Clinical utility of personalized reference intervals for CEA in the early detection of oncologic disease
- Agreement of lymphocyte subsets detection permits reference intervals transference between flow cytometry systems: direct validation using established reference intervals
- Cancer Diagnostics
- Atypical cells in urine sediment: a novel biomarker for early detection of bladder cancer
- External quality assessment-based tumor marker harmonization simulation; insights in achievable harmonization for CA 15-3 and CEA
- Cardiovascular Diseases
- Evaluation of the analytical and clinical performance of a high-sensitivity troponin I point-of-care assay in the Mersey Acute Coronary Syndrome Rule Out Study (MACROS-2)
- Analytical verification of the Atellica VTLi point of care high sensitivity troponin I assay
- Infectious Diseases
- Synovial fluid D-lactate – a pathogen-specific biomarker for septic arthritis: a prospective multicenter study
- Targeted MRM-analysis of plasma proteins in frozen whole blood samples from patients with COVID-19: a retrospective study
- Letters to the Editor
- Generative artificial intelligence (AI) for reporting the performance of laboratory biomarkers: not ready for prime time
- Urgent need to adopt age-specific TSH upper reference limit for the elderly – a position statement of the Belgian thyroid club
- Sigma metric is more correlated with analytical imprecision than bias
- Utility and limitations of monitoring kidney transplants using capillary sampling
- Simple flow cytometry method using a myeloma panel that easily reveals clonal proliferation of mature B-cells
- Is sweat conductivity still a relevant screening test for cystic fibrosis? Participation over 10 years
- Hb D-Iran interference on HbA1c measurement