Blood-Based Biomarkers in Alzheimer's Disease Diagnosis

Blood-based biomarkers have emerged as a minimally invasive approach to complement cerebrospinal fluid sampling and positron emission tomography for Alzheimer’s disease diagnosis. Quantitative assays of plasma amyloid beta peptides and phosphorylated tau isoforms now exhibit robust concordance with cerebral amyloid plaques and neurofibrillary tangles, enabling detection in preclinical and prodromal stages. Neurofilament light chain serves as a sensitive indicator of neuronal injury and disease progression. Advances in high-throughput proteomics and multiplex immunoassays have broadened the scope to include inflammatory mediators, metabolic regulators and extracellular vesicle–associated proteins. Composite biomarker panels, often combined with machine learning algorithms, have attained diagnostic accuracy approaching established imaging markers and hold promise for large-scale screening, patient stratification in clinical trials and monitoring of therapeutic response. Global efforts on assay standardisation and longitudinal validation across diverse populations are under way to define clinical thresholds and facilitate implementation in primary care.

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Blood-Based Biomarkers in Alzheimer's Disease Diagnosis publication trend

The graph below shows the total number of articles in blood-based biomarkers in alzheimer's disease diagnosis across all publications each year (not limited to Nature Index journals).

Technical terms

Aβ42/40 ratio: The proportion of amyloid beta peptides of 42 to 40 amino acids in blood, reflective of cerebral amyloid deposition.

Phosphorylated tau: Tau protein modified by phosphate groups at specific residues, indicative of neurofibrillary tangle pathology.

Neurofilament light chain (NfL): A cytoskeletal protein released into blood following axonal injury, serving as a marker of neurodegeneration.

Plasma extracellular vesicles: Nano-sized, membrane-bound particles derived from cells that carry proteins and nucleic acids, used to capture disease signatures.

Composite biomarker panel: A diagnostic tool combining multiple biomarkers and statistical algorithms to improve sensitivity and specificity.

Proteomics: The large-scale study of proteins and their functions, often using mass spectrometry or multiplex immunoassays.

References

1. Plasma proteins related to inflammatory diet predict future cognitive impairment. Molecular Psychiatry (2023).
2. A blood-based composite panel that screens Alzheimer’s disease. Biomarker Research (2023).
3. Serum IL-6, sAXL, and YKL-40 as systemic correlates of reduced brain structure and function in Alzheimer’s disease: results from the DELCODE study. Alzheimer's Research & Therapy (2023).