The following is a summary of “Diagnostic utility of cerebrospinal fluid biomarkers in patients with rapidly progressive dementia,” published in the October 2023 issue of Neurology by Kuchenbecker et al.
Differentiating between potential causes of rapidly progressive dementia (RPD) can be challenging due to similarities in clinical presentations, prompting the need for objective diagnostic tools.
Researchers conducted a retrospective study to investigate the potential of cerebrospinal fluid (CSF) biomarkers in enhancing the accuracy of diagnosing patients with RPD.
They measured biomarkers of Alzheimer’s disease neuropathology (Aβ42/40, p-tau181, p-tau231), neuroaxonal/neuronal injury (neurofilament light chain [NfL], visinin-like protein-1 [VILIP-1], total tau), neuroinflammation (chitinase-3-like protein [YKL-40] soluble triggering receptor expressed on myeloid cells 2 [sTREM2], glial fibrillary acidic protein [GFAP], monocyte chemoattractant protein-1 [MCP-1]), and synaptic dysfunction (synaptosomal-associated protein 25kDa, neurogranin) in CSF collected at presentation from 78 patients who were prospectively enrolled with RPD stemming from neurodegenerative, vascular, and autoimmune/inflammatory conditions. This group was compared to 35 age- and sex-matched patients with typical neurodegenerative diseases and 72 cognitively healthy controls. Biomarker levels were studied across various causes, treatment response potential, and differences in neurodegenerative disease progression rates.
The results showed Alzheimer’s disease biomarkers were linked to the neurodegenerative origins of RPD. Elevated NfL, sTREM2, YKL-40, and decreased VILIP-1 were characteristics in patients with autoimmune/inflammatory diseases. Patients with vascular causes of RPD showed notably higher MCP-1 levels. Using a multivariate model that included GFAP, MCP-1, p-tau181, and sTREM2, 89% accuracy was achieved in identifying the 44 patients with treatment-responsive RPD causes. Minor distinctions were observed between typical and rapidly progressive neurodegenerative disease presentations.
Investigators concluded that analysis of CSF biomarkers revealed associations with specific causes of RPD and treatment responsiveness in patients with diverse etiologies.