The study included 17 adult patients, where definite Alzheimer's disease was confirmed by autopsy using the NIA-Reagan Institute criteria (neocortical tangles score Braak V-VI), as well as the Consortium to Establish a Registry for Alzheimer's Disease criteria (CERAD plaque score frequent), and confirmed using specific monoclonal antibodies against hyperphosphorylated tau protein and amyloid beta peptide. The gene discussed is MAPT; the disease is early-onset autosomal dominant Alzheimer disease.