Findings from a recent cross-sectional, single-site study highlight potential diagnostic biomarkers of Alzheimer disease-related neurodegeneration in Down Syndrome. The study was published in The Lancet Neurology. 

Researchers sought to determine whether biomarker (ie. NfL, Ab1-40, Ab1-42, t-tau, p-tau) concentrations in the cerebrospinal fluid (CSF) and plasma would have diagnostic potential in detecting either prodromal Alzheimer disease (AD) or AD dementia in Down Syndrome.

Data showed that NfL, Ab1-40, and Ab1-42 plasma concentrations were higher in all Down Syndrome cohorts in comparison with controls (all P <.0001). Also, t-tau concentrations in the plasma were higher in the AD dementia group in comparison with controls. The researchers showed that NfL (P =.0001), Ab1-40 (P =.02), and t-tau (P =.0003) plasma concentrations were highest in the AD dementia group in comparison with the asymptomatic and prodromal AD groups. Results showed controls had higher levels of CSF concentrations of Ab1-42. NfL, t-tau, and p-tau CSF concentrations were higher in prodromal AD and AD dementia cohorts than in controls.

These findings suggest that the differing concentration levels of various biomarkers can be determined and utilized in the diagnosis for AD-related neurodegeneration in Down Syndrome patients.