Please use this identifier to cite or link to this item: https://hdl.handle.net/10316/105300
Title: Disease-related cortical thinning in presymptomatic granulin mutation carriers
Authors: Borrego-Écija, Sergi
Sala-Llonch, Roser
van Swieten, John
Borroni, Barbara
Moreno, Fermín
Masellis, Mario
Tartaglia, Carmela
Graff, Caroline
Galimberti, Daniela
Laforce, Robert
Rowe, James B
Finger, Elizabeth
Vandenberghe, Rik
Tagliavini, Fabrizio 
de Mendonça, Alexandre
Santana, Isabel 
Synofzik, Matthis
Ducharme, Simon
Levin, Johannes
Danek, Adrian
Gerhard, Alex
Otto, Markus
Butler, Chris
Frisoni, Giovanni
Sorbi, Sandro
Heller, Carolin
Bocchetta, Martina
Cash, David M
Convery, Rhian S
Moore, Katrina M
Rohrer, Jonathan D. 
Sánchez-Valle, Raquel 
Castelo-Branco, Miguel 
Almeida, Maria do Rosário 
Afonso, Sónia 
Leitão, Maria João 
GENFI Genetic FTD Initiative
Keywords: Frontotemporal dementia; Cortical thickness; GRN; Presymptomatic; Genetic mutations
Issue Date: 2021
Publisher: Elsevier
Serial title, monograph or event: NeuroImage: Clinical
Volume: 29
Abstract: Mutations in the granulin gene (GRN) cause familial frontotemporal dementia. Understanding the structural brain changes in presymptomatic GRN carriers would enforce the use of neuroimaging biomarkers for early diagnosis and monitoring. We studied 100 presymptomatic GRN mutation carriers and 94 noncarriers from the Genetic Frontotemporal dementia initiative (GENFI), with MRI structural images. We analyzed 3T MRI structural images using the FreeSurfer pipeline to calculate the whole brain cortical thickness (CTh) for each subject. We also perform a vertex-wise general linear model to assess differences between groups in the relationship between CTh and diverse covariables as gender, age, the estimated years to onset and education. We also explored differences according to TMEM106B genotype, a possible disease modifier. Whole brain CTh did not differ between carriers and noncarriers. Both groups showed age-related cortical thinning. The group-by-age interaction analysis showed that this age-related cortical thinning was significantly greater in GRN carriers in the left superior frontal cortex. TMEM106B did not significantly influence the age-related cortical thinning. Our results validate and expand previous findings suggesting an increased CTh loss associated with age and estimated proximity to symptoms onset in GRN carriers, even before the disease onset.
URI: https://hdl.handle.net/10316/105300
ISSN: 22131582
DOI: 10.1016/j.nicl.2020.102540
Rights: openAccess
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais
I&D ICNAS - Artigos em Revistas Internacionais
I&D CNC - Artigos em Revistas Internacionais

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