Cerebrospinal fluid biormarkers in the frontotemporal dementia spectrum

What is it about?

We measured cerebrospinal fluid (CSF) biomarkers, such as neurofilament light chain protein (NfL), total (t)-tau, phosphorylated (p)-tau, and amyloid-β (Aβ)42 in healthy controls and subjects with a clinical, genetic, CSF biomarker-based, and/or neuropathological diagnosis of frontotemporal dementia (FTD) or Alzheimer's disease (AD). Among the FTD group we selected patients with high certainty of the underlying proteinopathy (FTLD-TDP or FTLD-TAU) that causes the FTD clinical syndrome Both FTD and AD groups showed increased CSF NfL levels in comparison to controls. CSF NfL levels were significantly higher in FTD patients than in AD, reaching the highest values in amyotrophic lateral sclerosis associated with FTD. Patients with FTLD-TDP had higher NfL levels and lower p-tau/t-tau values in comparison with FTLD-TAU cases. Both NfL and p-tau/t-tau ratio showed about 80.0% sensitivity and 80% specificity in the discrimination between probable/definite FTLD-TAU and FTLD-TDP.

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Why is it important?

Our data validate CSF neurofilament light chain protein as a surrogate biomarker of neurodegeneration and disease severity in patients with frontotemporal dementia spectrum. Moreover, we demonstrated a good diagnostic value for NfL and p-tau/t-tau ratio in the discrimination between the two main proteinopathies of FTD, namely FTLD-TAU and FTLD-TDP.

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