Using cerebrospinal fluid biomarkers to diagnose Alzheimer’s disease: an Australian perspective

Cerebrospinal fluid (CSF) biomarkers are currently the only clinically validated biofluid diagnostic test for Alzheimer’s Disease (AD) available in Australia. Testing of CSF biomarkers via lumbar puncture (LP), including quantification of amyloid-β peptide, total tau protein, and phosphorylated tau, can give insight into underlying pathophysiological changes and provide greater certainty in confirming or excluding the presence of Alzheimer’s disease changes compared to standard clinical and radiological assessments. Despite CSF analysis being a safe and cost-effective diagnostic method, the use of CSF biomarkers in the evaluation of potential AD remains limited in Australian clinical practice due to a variety of factors, including regional access challenges, concerns over the perceived invasiveness of LP and a lack of confidence among clinicians in interpreting the results. The advent of disease-modifying therapies as a potential new treatment strategy to reduce the rate of progression in people with AD will drive the demand for early diagnosis of AD. This perspective argues for broader adoption of CSF biomarker testing by providing evidence-based, clinically informed expert guidance on when and why to consider CSF biomarker testing.