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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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