Abstract
Original language | English |
---|---|
Article number | 102540 |
Journal | NeuroImage: Clinical |
Volume | 29 |
DOIs | |
Publication status | Published - 1 Jan 2021 |
Keywords
- Cortical thickness
- Frontotemporal dementia
- GRN
- Genetic mutations
- Presymptomatic
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In: NeuroImage: Clinical, Vol. 29, 102540, 01.01.2021.
Research output: Contribution to journal › Article › Academic › peer-review
TY - JOUR
T1 - Disease-related cortical thinning in presymptomatic granulin mutation carriers
AU - Borrego-Écija, Sergi
AU - Sala-Llonch, Roser
AU - van Swieten, John
AU - Borroni, Barbara
AU - Moreno, Fermín
AU - Masellis, Mario
AU - Tartaglia, Carmela
AU - Graff, Caroline
AU - Galimberti, Daniela
AU - Laforce, Robert
AU - Rowe, James B.
AU - Finger, Elizabeth
AU - Vandenberghe, Rik
AU - Tagliavini, Fabrizio
AU - de Mendonça, Alexandre
AU - Santana, Isabel
AU - Synofzik, Matthis
AU - Ducharme, Simon
AU - Levin, Johannes
AU - Danek, Adrian
AU - Gerhard, Alex
AU - Otto, Markus
AU - Butler, Chris
AU - Frisoni, Giovanni
AU - Sorbi, Sandro
AU - Heller, Carolin
AU - Bocchetta, Martina
AU - Cash, David M.
AU - Convery, Rhian S.
AU - Moore, Katrina M.
AU - Rohrer, Jonathan D.
AU - Sanchez-Valle, Raquel
AU - Rossor, Martin N.
AU - Fox, Nick C.
AU - Woollacott, Ione O. C.
AU - Shafei, Rachelle
AU - Greaves, Caroline
AU - Neason, Mollie
AU - Guerreiro, Rita
AU - Bras, Jose
AU - Thomas, David L.
AU - Nicholas, Jennifer
AU - Mead, Simon
AU - Meeter, Lieke
AU - Panman, Jessica
AU - Papma, Janne
AU - van Minkelen, Rick
AU - Pijnenburg, Yolande
AU - Indakoetxea, Begoña
AU - Gabilondo, Alazne
AU - TaintaMD, Mikel
AU - de Arriba, Maria
AU - Gorostidi, Ana
AU - Zulaica, Miren
AU - Villanua, Jorge
AU - Diaz, Zigor
AU - Olives, Jaume
AU - Lladó, Albert
AU - Balasa, Mircea
AU - Antonell, Anna
AU - Bargallo, Nuria
AU - Premi, Enrico
AU - Cosseddu, Maura
AU - Gazzina, Stefano
AU - Padovani, Alessandro
AU - Gasparotti, Roberto
AU - Archetti, Silvana
AU - Black, Sandra
AU - Mitchell, Sara
AU - Rogaeva, Ekaterina
AU - Freedman, Morris
AU - Keren, Ron
AU - Tang-Wai, David
AU - Öijerstedt, Linn
AU - Andersson, Christin
AU - Jelic, Vesna
AU - Thonberg, Hakan
AU - Arighi, Andrea
AU - Fenoglio, Chiara
AU - Scarpini MD, Elio
AU - Fumagalli, Giorgio
AU - Cope, Thomas
AU - Timberlake, Carolyn
AU - Rittman, Timothy
AU - Shoesmith, Christen
AU - Bartha, Robart
AU - Rademakers, Rosa
AU - Wilke, Carlo
AU - Bender, Benjamin
AU - Bruffaerts, Rose
AU - Vandamme, Philip
AU - Vandenbulcke, Mathieu
AU - Maruta, Carolina
AU - Ferreira, Catarina B.
AU - Miltenberger, Gabriel
AU - Verdelho, Ana
AU - Afonso, S. nia
AU - Taipa, Ricardo
AU - Caroppo, Paola
AU - di Fede, Giuseppe
AU - Giaccone, Giorgio
AU - Prioni, Sara
AU - Redaelli, Veronica
AU - Rossi, Giacomina
AU - Tiraboschi, Pietro
AU - Duro, Diana
AU - Rosario Almeida, Maria
AU - Castelo-Branco, Miguel
AU - João Leitão, Maria
AU - Tabuas-Pereira, Miguel
AU - Santiago, Beatriz
AU - Gauthier, Serge
AU - Rosa-Neto, Pedro
AU - Veldsman, Michele
AU - Flanagan, Toby
AU - Prix, Catharina
AU - Hoegen, Tobias
AU - Wlasich, Elisabeth
AU - Loosli, Sandra
AU - Schonecker, Sonja
AU - Semler, Elisa
AU - Anderl-Straub, Sarah
N1 - Funding Information: The authors thank all the volunteers for their participation in this study. SBE is a recipient of the Rio-Hortega post-residency grant from the Instituto de Salud Carlos III, Spain. This study was partially funded by Fundaci? Marat? de TV3, Spain (grant no. 20143810 to RSV). The GENFI study has been supported by the Medical Research Council UK, the Italian Ministry of Health and the Canadian Institutes of Health Research as part of a Centres of Excellence in Neurodegeneration grant, as well as other individual funding to investigators. KM has received funding from an Alzheimer's Society PhD studentship. JDR acknowledges support from the National Institute for Health Research (NIHR) Queen Square Dementia Biomedical Research Unit and the University College London Hospitals Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre, the UK Dementia Research Institute, Alzheimer's Research UK, the Brain Research Trust and the Wolfson Foundation. JCvS was supported by the Dioraphte Foundation grant 09-02-03-00, the Association for Frontotemporal Dementias Research Grant 2009, The Netherlands Organization for Scientific Research (NWO) grant HCMI 056-13-018, ZonMw Memorabel (Deltaplan Dementie, project number 733 051 042), Alzheimer Nederland and the Bluefield project. CG have received funding from JPND-Prefrontals VR Dnr 529-2014-7504, VR: 2015-02926, and 2018-02754, the Swedish FTD Initiative-Sch?rling Foundation, Alzheimer Foundation, Brain Foundation and Stockholm County Council ALF. DG has received support from the EU Joint Programme ? Neurodegenerative Disease Research (JPND) and the Italian Ministry of Health (PreFrontALS) grant 733051042. JBR is funded by the Wellcome Trust (103838) and the National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre. MM has received funding from a Canadian Institutes of Health Research operating grant and the Weston Brain Institute and Ontario Brain Institute. RV has received funding from the Mady Browaeys Fund for Research into Frontotemporal Dementia. EF has received funding from a CIHR grant #327387. JDR is an MRC Clinician Scientist (MR/M008525/1) and has received funding from the NIHR Rare Diseases Translational Research Collaboration (BRC149/NS/MH), the Bluefield Project and the Association for Frontotemporal Degeneration. MS was supported by a grant 779257 ?Solve-RD? from the Horizon 2020 research and innovation programme. Funding Information: The authors thank all the volunteers for their participation in this study. SBE is a recipient of the Rio-Hortega post-residency grant from the Instituto de Salud Carlos III, Spain. This study was partially funded by Fundació Marató de TV3, Spain (grant no. 20143810 to RSV). The GENFI study has been supported by the Medical Research Council UK, the Italian Ministry of Health and the Canadian Institutes of Health Research as part of a Centres of Excellence in Neurodegeneration grant, as well as other individual funding to investigators. KM has received funding from an Alzheimer’s Society PhD studentship. JDR acknowledges support from the National Institute for Health Research (NIHR) Queen Square Dementia Biomedical Research Unit and the University College London Hospitals Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre, the UK Dementia Research Institute, Alzheimer’s Research UK, the Brain Research Trust and the Wolfson Foundation. JCvS was supported by the Dioraphte Foundation grant 09-02-03-00, the Association for Frontotemporal Dementias Research Grant 2009, The Netherlands Organization for Scientific Research (NWO) grant HCMI 056-13-018, ZonMw Memorabel (Deltaplan Dementie, project number 733 051 042), Alzheimer Nederland and the Bluefield project. CG have received funding from JPND-Prefrontals VR Dnr 529-2014-7504, VR: 2015-02926, and 2018-02754, the Swedish FTD Initiative-Schörling Foundation, Alzheimer Foundation, Brain Foundation and Stockholm County Council ALF. DG has received support from the EU Joint Programme – Neurodegenerative Disease Research (JPND) and the Italian Ministry of Health (PreFrontALS) grant 733051042. JBR is funded by the Wellcome Trust (103838) and the National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre. MM has received funding from a Canadian Institutes of Health Research operating grant and the Weston Brain Institute and Ontario Brain Institute. RV has received funding from the Mady Browaeys Fund for Research into Frontotemporal Dementia. EF has received funding from a CIHR grant #327387. JDR is an MRC Clinician Scientist (MR/M008525/1) and has received funding from the NIHR Rare Diseases Translational Research Collaboration (BRC149/NS/MH), the Bluefield Project and the Association for Frontotemporal Degeneration. MS was supported by a grant 779257 “Solve-RD” from the Horizon 2020 research and innovation programme. Publisher Copyright: © 2020 Copyright: Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021/1/1
Y1 - 2021/1/1
N2 - 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.
AB - 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.
KW - Cortical thickness
KW - Frontotemporal dementia
KW - GRN
KW - Genetic mutations
KW - Presymptomatic
UR - http://www.scopus.com/inward/record.url?scp=85098946535&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.nicl.2020.102540
DO - https://doi.org/10.1016/j.nicl.2020.102540
M3 - Article
C2 - 33418170
SN - 2213-1582
VL - 29
JO - NeuroImage: Clinical
JF - NeuroImage: Clinical
M1 - 102540
ER -