Article
Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia.
International journal of molecular sciences - 29 Dec 2023
Almeida Maria Rosário, Tábuas-Pereira Miguel, Baldeiras Inês, Lima Marisa, Durães João, Massano João, Pinto Madalena, Cruto Catarina, Santana Isabel
Abstract excerpt
In Portugal, heterozygous loss-of-function mutations in the progranulin (GRN) gene account for approximately half of the genetic mediated forms of frontotemporal dementia (FTD). GRN mutations reported thus far cause FTD through a haploinsufficiency disease mechanism. Herein, we aim to unveil the GRN mutation spectrum, investigated in 257 FTD patients and 19 family members from the central/north region of Portugal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.