Abstract
Down syndrome (Trisomy 21; DS) is a unique disease known to be associated with early-onset Alzheimer's disease (AD). The initial presentation of AD in DS is usually difficult to recognize, owing to the underlying intellectual disabilities. Using biomarkers as a prediction tool for detecting AD in at-risk people with DS may benefit patient care. The objective of this review is to discuss the utility of biomarkers in DS on the basis of the pathophysiology of the disease and to provide an update on recent studies in this field. Only through the comprehensive assessment of clinical symptoms, imaging studies, and biomarker analyses can people with DS who are at risk for AD be diagnosed early. Studies for biomarkers of AD in DS have focused on the common pathophysiology of AD in people with DS and in the general population. The most extensively studied biomarkers are amyloid and tau. Owing to the nature of amyloid precursor protein overproduction in DS, the baseline β-amyloid (Aβ) plasma levels are higher than those in controls. Hence, the changes in Aβ are considered to be a predictive marker for AD in DS. In addition, other markers related to telomere length, neuroinflammation, and methylation have been investigated for their correlation with AD progression. Future studies including different ethnic groups may be helpful to collect sufficient data to monitor drug safety and efficacy, stratify patients at risk for AD, and quantify the benefit of treatment.