Matching clinical diagnosis and amyloid biomarkers in alzheimer’s disease and frontotemporal dementia

Giulia Giacomucci, Salvatore Mazzeo, Silvia Bagnoli, Matteo Casini, Sonia Padiglioni, Cristina Polito, Valentina Berti, Juri Balestrini, Camilla Ferrari, Gemma Lombardi, Assunta Ingannato, Sandro Sorbi, Benedetta Nacmias, Valentina Bessi

Research output: Contribution to journalArticlepeer-review


Background: The aims of this study were to compare the diagnostic accuracy, sensitivity, specificity, and positive and negative predictive values (PPV, NPV) of different cerebrospinal fluid (CSF) amyloid biomarkers and amyloid-Positron Emission Tomography (PET) in patients with a clinical diagnosis of Alzheimer’s disease (AD) and Frontotemporal Dementia (FTD); to compare concordance between biomarkers; and to provide an indication of their use and interpretation. Methods: We included 148 patients (95 AD and 53 FTD), who underwent clinical evaluation, neuropsycho-logical assessment, and at least one amyloid biomarker (CSF analysis or amyloid-PET). Thirty-six patients underwent both analyses. One-hundred-thirteen patients underwent Apolipoprotein E (ApoE) genotyping. Results: Amyloid-PET presented higher diagnostic accuracy, sensitivity, and NPV than CSF Aβ1–42 but not Aβ42/40 ratio. Concordance between CSF biomarkers and amyloid-PET was higher in FTD patients compared to AD cases. None of the AD patients presented both negative Aβ biomarkers. Conclusions: CSF Aβ42/40 ratio significantly increased the diagnostic accuracy of CSF biomarkers. On the basis of our current and previous data, we suggest a flowchart to guide the use of biomarkers according to clinical suspicion: due to the high PPV of both amyloid-PET and CSF analysis including Aβ42/40, in cases of concordance between at least one biomarker and clinical diagnosis, performance of the other analysis could be avoided. A combination of both biomarkers should be performed to better characterize unclear cases. If the two amyloid biomarkers are both negative, an underlying AD pathology can most probably be excluded.

Original languageEnglish
Article number47
Pages (from-to)1-18
Number of pages18
JournalJournal of Personalized Medicine
Issue number1
Publication statusPublished - Jan 2021


  • Alzheimer’s disease
  • Amyloid-PET
  • CSF biomarkers
  • Frontotemporal dementia

ASJC Scopus subject areas

  • Medicine (miscellaneous)


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