Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia.

ABSTRACT: 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 using sequencing methods. Seven different pathogenic variants were identified in 46 subjects including 40 patients (16%) and 6 relatives (32%). bvFTD was the most common clinical presentation among the GRN mutation patients, who showed a global pattern of moderate-to-severe frontotemporoparietal deficits in the neuropsychological evaluation. Interesting

SUBMITTER: Almeida MR 

PROVIDER: S-EPMC10778719 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature