In Alzheimer disease (AD), the pathological changes are caused by neuritic plaques formed by accumulated amyloid-beta and intraneuronal neurofibrillary tangles; which are composed of hyperphosphorylated tau and result in neuronal cell loss and visible brain atrophy, predominantly in the hippocampus, entorhinal cortex, and the association areas of the neocortex9,10. The gene discussed is MAPT; the disease is Alzheimer disease.