Searching for other cases resulted in the identification of PSEN1 p.A79V in one possible AD patient, PSEN1 p.R269H and MAPT p.A60G in two independent MCI patients, and GBA1 p.W223R and APP p.A209T in two independent progressive supranuclear palsy (PSP) patients (Supplementary Data 4). The gene discussed is GBA1; the disease is Classical progressive supranuclear palsy.