Although the ultimate confirmation of AD diagnosis is based on postmortem examination of brain tissue for amyloid plaques consisting of amyloid-beta (Aβ) peptides and neurofibrillary tangles containing phosphorylated tau (p-tau), in vivo diagnosis can be achieved using cerebrospinal fluid (CSF) or neuroimaging biomarkers [1,3]. The gene discussed is MAPT; the disease is Alzheimer disease.