Clinicopathologic heterogeneity in FTDP-17 due to MAPT p.P301L mutation including a patient with globular glial tauopathy

摘要

AimThe p.P301L mutation in microtubule-associated protein tau (MAPT) is a common cause of frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17). We compare clinicopathologic features of five unrelated and three related (brother, sister and cousin) patients with FTDP-17 due to p.P301L mutation.