Article
Progranulin mutations in clinical and neuropathological Alzheimer's disease.
Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Dec 2022
Vardarajan Badri N, Reyes-Dumeyer Dolly, Piriz Angel L, Lantigua Rafael A, Medrano Martin, Rivera Diones, Jiménez-Velázquez Ivonne Z, Martin Eden, Pericak-Vance Margaret A, Bush William, Farrer Lindsay, Haines Jonathan L, Wang Li-San, Leung Yuk Yee, Schellenberg Gerard, Kukull Walter, De Jager Philip, Bennett David A, Schneider Julie A, Mayeux Richard
Abstract excerpt
INTRODUCTION: Progranulin (GRN) mutations occur in frontotemporal lobar degeneration (FTLD) and in Alzheimer's disease (AD), often with TDP-43 pathology. METHODS: We determined the frequency of rs5848 and rare, pathogenic GRN mutations in two autopsy and one family cohort. We compared Braak stage, β-amyloid load, hyperphosphorylated tau (PHFtau) tangle density and TDP-43 pathology in GRN carriers and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.