Promising clinical tools for specific Alzheimer disease diagnosis from plasma pTau217 and ApoE genotype in a cognitive disorder unit
Abstract Alzheimer’s disease (AD) diagnosis relies on cerebrospinal fluid (CSF) biomarkers or amyloid PET. Alternatives for AD diagnosis from blood samples are needed to develop a fully-automated early-diagnosis approach, potentially implemented in a cognitive disorder unit. Plasma p-Tau217 was dete...
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Nature Portfolio
2025-05-01
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| Online Access: | https://doi.org/10.1038/s41598-025-01511-3 |
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| author | Lourdes Álvarez-Sánchez Carmen Peña-Bautista Laura Ferré-González Ángel Balaguer Julián Luis Amengual Miguel Baquero Consuelo Cháfer-Pericás |
| author_facet | Lourdes Álvarez-Sánchez Carmen Peña-Bautista Laura Ferré-González Ángel Balaguer Julián Luis Amengual Miguel Baquero Consuelo Cháfer-Pericás |
| author_sort | Lourdes Álvarez-Sánchez |
| collection | DOAJ |
| description | Abstract Alzheimer’s disease (AD) diagnosis relies on cerebrospinal fluid (CSF) biomarkers or amyloid PET. Alternatives for AD diagnosis from blood samples are needed to develop a fully-automated early-diagnosis approach, potentially implemented in a cognitive disorder unit. Plasma p-Tau217 was determined in patients diagnosed with AD (n = 134) or non-AD (n = 132), from CSF biomarkers (Aβ42/Aβ40). A logistic regression model was developed. The predictive performance was assessed using a training set (70% of data) and internally validated with a test set (30% of data) and 1000 iterations. A nomogram and a double cut-off strategy were proposed to visualize the model results, and stratify patients (AD, non-AD, uncertain), respectively. The model (plasma p-Tau217, ApoE, age) showed satisfactory performance (AUC 0.94, sensitivity 0.85, specificity 0.89); so, together with the corresponding nomogram, it could be applied in specialized clinical contexts. The model including only plasma p-Tau217 (AUC 0.93, sensitivity 0.72, specificity 0.96) would be a useful approach in less specialized clinics. The corresponding two-cut-off strategy for the first model were as AD probability (< 0.41 non-AD, > 0.57 AD). This study provided clinical tools (nomogram, double cut-off) for identifying Aβ positivity at a cognitive disorder unit, which would lead to reduce the CSF analysis. |
| format | Article |
| id | doaj-art-f81443b1d43b476b80ed4c6847e895d7 |
| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj-art-f81443b1d43b476b80ed4c6847e895d72025-08-20T03:53:12ZengNature PortfolioScientific Reports2045-23222025-05-0115111310.1038/s41598-025-01511-3Promising clinical tools for specific Alzheimer disease diagnosis from plasma pTau217 and ApoE genotype in a cognitive disorder unitLourdes Álvarez-Sánchez0Carmen Peña-Bautista1Laura Ferré-González2Ángel Balaguer3Julián Luis Amengual4Miguel Baquero5Consuelo Cháfer-Pericás6Alzheimer’s Disease Research Group, Instituto de Investigación Sanitaria La FeAlzheimer’s Disease Research Group, Instituto de Investigación Sanitaria La FeAlzheimer’s Disease Research Group, Instituto de Investigación Sanitaria La FePlataforma de Big Data, IA y Bioestadística, Instituto de Investigación Sanitaria La FePlataforma de Big Data, IA y Bioestadística, Instituto de Investigación Sanitaria La FeAlzheimer’s Disease Research Group, Instituto de Investigación Sanitaria La FeAlzheimer’s Disease Research Group, Instituto de Investigación Sanitaria La FeAbstract Alzheimer’s disease (AD) diagnosis relies on cerebrospinal fluid (CSF) biomarkers or amyloid PET. Alternatives for AD diagnosis from blood samples are needed to develop a fully-automated early-diagnosis approach, potentially implemented in a cognitive disorder unit. Plasma p-Tau217 was determined in patients diagnosed with AD (n = 134) or non-AD (n = 132), from CSF biomarkers (Aβ42/Aβ40). A logistic regression model was developed. The predictive performance was assessed using a training set (70% of data) and internally validated with a test set (30% of data) and 1000 iterations. A nomogram and a double cut-off strategy were proposed to visualize the model results, and stratify patients (AD, non-AD, uncertain), respectively. The model (plasma p-Tau217, ApoE, age) showed satisfactory performance (AUC 0.94, sensitivity 0.85, specificity 0.89); so, together with the corresponding nomogram, it could be applied in specialized clinical contexts. The model including only plasma p-Tau217 (AUC 0.93, sensitivity 0.72, specificity 0.96) would be a useful approach in less specialized clinics. The corresponding two-cut-off strategy for the first model were as AD probability (< 0.41 non-AD, > 0.57 AD). This study provided clinical tools (nomogram, double cut-off) for identifying Aβ positivity at a cognitive disorder unit, which would lead to reduce the CSF analysis.https://doi.org/10.1038/s41598-025-01511-3Alzheimer diseaseBiomarkersPlasmaDiagnosisPredictive modelValidation |
| spellingShingle | Lourdes Álvarez-Sánchez Carmen Peña-Bautista Laura Ferré-González Ángel Balaguer Julián Luis Amengual Miguel Baquero Consuelo Cháfer-Pericás Promising clinical tools for specific Alzheimer disease diagnosis from plasma pTau217 and ApoE genotype in a cognitive disorder unit Scientific Reports Alzheimer disease Biomarkers Plasma Diagnosis Predictive model Validation |
| title | Promising clinical tools for specific Alzheimer disease diagnosis from plasma pTau217 and ApoE genotype in a cognitive disorder unit |
| title_full | Promising clinical tools for specific Alzheimer disease diagnosis from plasma pTau217 and ApoE genotype in a cognitive disorder unit |
| title_fullStr | Promising clinical tools for specific Alzheimer disease diagnosis from plasma pTau217 and ApoE genotype in a cognitive disorder unit |
| title_full_unstemmed | Promising clinical tools for specific Alzheimer disease diagnosis from plasma pTau217 and ApoE genotype in a cognitive disorder unit |
| title_short | Promising clinical tools for specific Alzheimer disease diagnosis from plasma pTau217 and ApoE genotype in a cognitive disorder unit |
| title_sort | promising clinical tools for specific alzheimer disease diagnosis from plasma ptau217 and apoe genotype in a cognitive disorder unit |
| topic | Alzheimer disease Biomarkers Plasma Diagnosis Predictive model Validation |
| url | https://doi.org/10.1038/s41598-025-01511-3 |
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