Potential genetic modifiers of disease risk and age at onset inpatients with frontotemporal dementia and GRN mutations: a genome-wideassociation study

摘要

BackgroundLoss-of-function mutations in progranulin (GRN) cause frontotemporal dementia. Patients with GRN mutations present with a uniform subtype of TDP-43 pathology at autopsy (FTLD-TDP type A); however, age at onset and clinical presentation are variable, even within families. We aimed at identifying potential genetic factors modifying disease onset and disease risk in GRN mutation carriers.