Plasma NfL associated neurodegeneration in adults with Down syndrome

Abstract

AbstractBackgroundDown’s syndrome (DS) is a genetic form of Alzheimer´s disease (AD). Plasma NfL is a neurodegeneration biomarker which has shown excellent diagnostic and prognostic performances. However, its association with brain atrophy has not been established.MethodsSingle‐centre cross‐sectional study in adults with DS. Participants had blood drawn and underwent an MRI and were classified into asymptomatic and symptomatic AD patients after a structured neurological and neuropsychological evaluation blind to the biomarker data. Plasma Neurofilament light (NfL) levels were determined with SIMOA and cortical thickness (CTh) with Freesurfer. We assessed the correlation of plasma NfL levels with CTh across the cortical mantel and with the Dickerson´s CTh signature.ResultsWe recruited 169 adults with DS (74 females, mean age 42.85 [18.23 – 61.79] years old), of which 114 were asymptomatic (46 females, mean age 38.44 [18.23 – 57.17] years old) and 55 symptomatic (mean age 51.99 [39.40 – 61.79] years old). Plasma NfL levels were associated with cortical atrophy only in the symptomatic AD group in widespread medial and lateral posterior cortical regions (Figure 1). Plasma NfL showed a moderate negative correlation (r= ‐0.54; p<0.01) with Dickerson´s cortical signature (Figure 2).ConclusionsPlasma NfL levels are a good biomarker to track neurodegeneration in DS associated AD.