Screening for MAPT and PGRN mutations in Korean patients with PSP/CBS/FTD

Abstract

1. Introduction Mutations in the microtubule-associated protein tau gene (MAPT) and progranulin gene (PGRN) have been identified in several neurodegenerative disorders within the confines of the frontotemporal lobar degeneration complex, including progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) [1]. Although most mutations in MAPT and PGRN have been indentified in familial cases, mutations have also been described in sporadic cases. In this study, we screened MAPT and PGRN mutation in a series of Korean patients with sporadic PSP, CBS, and frontotemporal dementia (FTD).