Neuropathological hallmarks of AD include loss of neurons and synapses in the cortical and subcortical brain regions, accompanied by extracellular accumulation of amyloid-β (Aβ) plaques and intraneuronal aggregation of hyperphosphorylated tau protein (pTau) known as neurofibrillary tangles (NFTs) [186]. The gene discussed is MAPT; the disease is Alzheimer disease.