Abstract

Neurodegenerative diseases (NDDs) stem from the loss of neurons and related progressive disruption of psychological, cognitive, and motor functions. The development of NDDs results from either disruption or dysfunction of normal nervous tissues or the accumulation of pathologically altered proteins in the brain. Traditionally, the diagnoses are based on clinical presentations, with limited sensitivity for early diagnosis and specificity for differential diagnosis. However, advancements in the research of biomarkers and biosensing techniques have led to additional promising strategies for the molecular diagnosis of NDDs.

In this chapter, we have reviewed the clinical features, diagnostic criteria and known genetic and protein biomarkers of common NDDs. We have also discussed the importance of bioenergetics in the development of NDDs. Finally, we have placed emphasis on current developments in the detection and diagnosis of NDDs, including neuroimaging, metabolome profiling, and biosensors for NDD biomarkers. Biosensing provides a noninvasive way to diagnose NDDs at an early stage to detect alterations and abnormal products in the blood and brain tissues with high sensitivity and selectivity. This chapter is expected to provide an overview of the recent advances in diagnosing NDDs, as well as pointing out the current progress and challenges in the evaluation and treatment of NDDs and beyond.