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Using amyloid PET as a biomarker to detect progression of early Alzheimer’s disease

Alzheimer’s disease (AD), the most common form of dementia, is a complex polygenic disease with genetic, cellular, pathologic, and clinical heterogeneity. Recently, significant attempts have been made for identifying AD biomarkers for reliably tracking disease progression in its early asymptomatic stages. To this end, amyloid imaging technique has provided a breakthrough in deciphering the pathophysiology and accumulation of amyloid beta (Aβ) and hyperphosphorylated tau deposits in the brain. As such, our lab and multiple other research groups have used biomarker levels such as CSF Aβ tau, TREM2, and amyloid positivity for genetic association studies and identified novel genes and loci associated to AD. In a recent study, Raghavan et al., analyzed 4,314 participants and identified a novel locus for amyloidosis within RBFOX1 gene, however, this finding has not been replicated yet.