Hallmarks of neuropathology in AD include deposits of amyloid-β (Aβ) peptide extracellularly and accumulation of hyperphosphorylated tau (p-tau) in neurofibrillary tangles (NFTs; Dubois et al., 2016; Crous-Bou et al., 2017). The gene discussed is MAPT; the disease is Alzheimer disease.