The number of patients with Alzheimer's disease (AD) and non-Alzheimer's disease (non-AD) has drastically increased over recent decades. The amyloid cascade hypothesis attributes a vital role to amyloid-β protein (Aβ) in the pathogenesis of AD. As the main pathological hallmark of AD, amyloid plaques consist of merely the 42 and 40 amino acid variants of Aβ (Aβ42 and Aβ40). The cerebrospinal fluid (CSF) biomarker Aβ42/40 has been extensively investigated and eventually integrated into important diagnostic tools to support the clinical diagnosis of AD. With the development of highly sensitive assays and technologies, blood-based Aβ42/40, which was obtained using a minimally invasive and cost-effective method, has been proven to be abnormal in synchrony with CSF biomarker values. This paper presents the recent progress of the CSF Aβ42/40 ratio and plasma Aβ42/40 for AD as well as their potential clinical application as diagnostic markers or screening tools for dementia.
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