Two of the main pathological features of AD are amyloid plaques, extracellular insoluble aggregates composed of amyloid-beta fragments (Aβ), and neurofibrillary tangles, intracellular accumulation of hyperphosphorylated Tau (Ingelsson et al., 2004; LaFerla et al., 2007). The gene discussed is MAPT; the disease is Alzheimer disease.