Diagnostic performance of Alzheimer's disease blood and CSF biomarkers in a Brazilian cohort with low educational attainment

Mol Psychiatry. 2025 Dec;30(12):6090-6098. doi: 10.1038/s41380-025-03192-w. Epub 2025 Sep 8.

Abstract

Blood-based biomarkers (BBMs) have emerged as promising tools to enhance Alzheimer's disease (AD) diagnosis. Despite two-thirds of dementia cases occurring in the Global South, research on BBMs has predominantly focused on populations from the Global North. This geographical disparity hinders our understanding of BBM performance in diverse populations. To address this, we evaluated the diagnostic properties of AD BBMs in a real-world memory clinic from Brazil, one of the largest countries in the Global South. We measured blood and cerebrospinal fluid (CSF) biomarkers - amyloid-β (Aβ)40, Aβ42, phosphorylated tau (p-tau) 217, neurofilament light (NfL) chain, and glial fibrillary acidic protein (GFAP) - in 59 individuals. Sample comprised 20 cognitively unimpaired (CU) individuals, 22 with AD dementia, and 17 with vascular dementia (VaD). We compared BBM levels across diagnostic groups and assessed their discriminative ability for AD. Notably, individuals with VaD and AD had lower educational levels (6.8 ± 3.0) compared to CU individuals (17.3 ± 6.9). Among the BBMs tested, plasma p-tau217 demonstrated the best performance, exhibiting high accuracy in differentiating CU from AD (AUC 0.96) and Aβ pathology (AUC 0.98). However, the ability of AD BBMs to distinguish between AD and VaD was lower than expected (AUC from 0.52-0.79), particularly when compared to studies from the Global North. Our findings highlight the potential utility of BBMs for AD diagnosis in real-world settings within Brazil. However, they also underscore the need for proper implementation and validation of these biomarkers within these populations to ensure accurate and reliable results.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease* / blood
  • Alzheimer Disease* / cerebrospinal fluid
  • Alzheimer Disease* / diagnosis
  • Amyloid beta-Peptides / blood
  • Amyloid beta-Peptides / cerebrospinal fluid
  • Biomarkers / blood
  • Biomarkers / cerebrospinal fluid
  • Brazil
  • Cohort Studies
  • Dementia, Vascular / blood
  • Dementia, Vascular / cerebrospinal fluid
  • Dementia, Vascular / diagnosis
  • Educational Status
  • Female
  • Glial Fibrillary Acidic Protein / blood
  • Glial Fibrillary Acidic Protein / cerebrospinal fluid
  • Humans
  • Male
  • Middle Aged
  • Neurofilament Proteins / blood
  • Neurofilament Proteins / cerebrospinal fluid
  • Peptide Fragments / blood
  • Peptide Fragments / cerebrospinal fluid
  • tau Proteins / blood
  • tau Proteins / cerebrospinal fluid

Substances

  • Biomarkers
  • Amyloid beta-Peptides
  • tau Proteins
  • Neurofilament Proteins
  • Peptide Fragments
  • Glial Fibrillary Acidic Protein
  • neurofilament protein L