The neuropathological signature of AD includes amyloid plaques formed by extracellular deposits of amyloid beta (Aβ) peptides and neurofibrillary tangles (NFTs) formed by intracellular aggregates of hyperphosphorylated tau proteins (p-tau), inflammatory reaction, astrocyte and microglial activation, as well as synaptic and neuronal loss11,12,13,14. The gene discussed is MAPT; the disease is Alzheimer disease.