Plasma Neurofilament Light Combined with Risk Genes for the Diagnosis of Alzheimer?s Disease

Abstract

To explore the association of plasma neurofilament light and other potential biomarkers with the neurodegeneration in Alzheimer’s disease is the objective. Alzheimer’s disease is a progressive neurodegenerative disease. The levels of amyloid beta, total tau, phosphorylation tau protein in the cerebrospinal fluid were well-accepted biomarkers for clinical diagnosis of Alzheimer’s disease. However, invasive acquisition of cerebrospinal fluid limits its clinical application. In recent years, studies on plasma biomarkers for Alzheimer’s disease were increasing. 112 probable Alzheimer’s disease cases and 96 normal cognitive control group were included. The cognition and psychobehavioral symptoms were measured. The plasma level of amyloid beta, total tau and neurofilament light were measured by the method of single molecule array. Apolipoprotein genotype and Alzheimer’s disease risk genes were examined. Of all the included participants, the plasma neurofilament light level in patients with Alzheimer’s disease dementia was significantly increased compared with normal cognitive control group (mean levels: 64.68 ng/l vs. 40.66 ng/l; p<0.001). The area under the curve value of neurofilament light was 0.861, with the sensitivity (0.892), specificity (0.769) and cut-off value (42.440), suggesting that neurofilament light had high diagnostic value for Alzheimer’s disease. In probable Alzheimer’s disease group, the plasma neurofilament light level have a negative correlation with the mini-mental state examination score and a positive correlation with the plasma amyloid beta-42 level (p<0.01).The logistic regression analysis showed that the plasma neurofilament light, tau concentration and Alzheimer’s disease risk gene have a significant positive impact on Alzheimer’s disease morbidity (p<0.05). These findings suggest that plasma neurofilament light combined with Alzheimer’s disease risk genes may be used as diagnosis biomarkers in patients with Alzheimer’s disease.