Extracellular amyloid-β (Aβ) peptides in cortical Aβ plaques and intracellular phosphorylated tau protein as neurofibrillary tangles are key hallmarks of Alzheimer’s disease (AD) that can be measured in vivo with positron emission tomography (PET) imaging and biofluid markers including plasma and cerebrospinal fluid (CSF) assays. Here, MAPT is linked to early-onset autosomal dominant Alzheimer disease.