The diagnosis of AD is generally performed through a series of neuropsychological tests, Mini-Mental State Examination (MMSE), laboratory tests such as assessing the concentrations of Aβ42, Aβ42/40 ratio, total Tau and pTau181 proteins in the CSF and brain imaging tests (Mayo Clinic, 2024; Porsteinsson et al., 2021). The gene discussed is MAPT; the disease is Alzheimer disease.