Disease-related cortical thinning in presymptomatic granulin mutation carriers
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| Data de Publicação: | 2021 |
| Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Texto Completo: | http://hdl.handle.net/10451/46269 |
Resumo: | © 2020 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license. |
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Disease-related cortical thinning in presymptomatic granulin mutation carriersFrontotemporal dementiaCortical thicknessGRNPresymptomaticGenetic mutations© 2020 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license.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.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.ElsevierRepositório da Universidade de LisboaBorrego-Écija, SergiSala-Llonch, Roservan Swieten, JohnBorroni, BarbaraMoreno, FermínMasellis, MarioTartaglia, CarmelaGraff, CarolineGalimberti, DanielaLaforce, RobertRowe, James B.Di Fede, GiuseppeRedaelli, VeronicaRossi, GiacominaTiraboschi, PietroDuro, DianaRosario Almeida, MariaCastelo-Branco, MiguelJoão Leitão, MariaTabuas-Pereira, MiguelFinger, ElizabethAnderl-Straub, SarahSantiago, BeatrizGauthier, SergeRosa-Neto, PedroVeldsman, MicheleFlanagan, TobyPrix, CatharinaHoegen, TobiasWlasich, ElisabethLoosli, SandraSchonecker, SonjaTagliavini, FabrizioVandenberghe, RikSemler, ElisaDe Mendonça, AlexandreSantana, IsabelSynofzik, MatthisDucharme, SimonLevin, JohannesDanek, AdrianGerhard, AlexOtto, MarkusWoollacott, Ione O.C.Butler, ChrisFrisoni, GiovanniSorbi, SandroHeller, CarolinBocchetta, MartinaCash, David MConvery, Rhian SMoore, Katrina M.Rohrer, Jonathan D.Sanchez-Valle, RaquelShafei, RachelleRossor, Martin N.Fox, Nick C.Greaves, CarolineNeason, MollieGuerreiro, RitaBras, JoseThomas, David L.Nicholas, JenniferMead, SimonMeeter, LiekeOlives, JaumePanman, JessicaPapma, Jannevan Minkelen, RickPijnenburg, YolandeIndakoetxea, BegoñaGabilondo, AlazneTaintaMD, Mikelde Arriba, MariaGorostidi, AnaZulaica, MirenLladó, AlbertVillanua, JorgeDiaz, ZigorBalasa, MirceaAntonell, AnnaBargallo, NuriaPremi, EnricoCosseddu, MauraGazzina, StefanoPadovani, AlessandroGasparotti, RobertoFenoglio, ChiaraArchetti, SilvanaBlack, SandraMitchell, SaraRogaeva, EkaterinaFreedman, MorrisKeren, RonTang-Wai, DavidÖijerstedt, LinnAndersson, ChristinJelic, VesnaScarpini MD, ElioThonberg, HakanArighi, AndreaFumagalli, GiorgioCope, ThomasTimberlake, CarolynRittman, TimothyShoesmith, ChristenBartha, RobartRademakers, RosaWilke, CarloGiaccone, GiorgioBender, BenjaminBruffaerts, RoseVandamme, PhilipVandenbulcke, MathieuMaruta, CarolinaFerreira, Catarina B.Miltenberger-Miltenyi, GabrielVerdelho, AnaAfonso, SóniaTaipa, RicardoPrioni, SaraCaroppo, Paola2021-02-10T12:32:43Z20212021-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/46269engNeuroimage Clin. 2020 Dec 29;29:10254010.1016/j.nicl.2020.1025402213-1582info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-08T16:48:30Zoai:repositorio.ul.pt:10451/46269Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T21:58:30.471453Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
| dc.title.none.fl_str_mv |
Disease-related cortical thinning in presymptomatic granulin mutation carriers |
| title |
Disease-related cortical thinning in presymptomatic granulin mutation carriers |
| spellingShingle |
Disease-related cortical thinning in presymptomatic granulin mutation carriers Borrego-Écija, Sergi Frontotemporal dementia Cortical thickness GRN Presymptomatic Genetic mutations |
| title_short |
Disease-related cortical thinning in presymptomatic granulin mutation carriers |
| title_full |
Disease-related cortical thinning in presymptomatic granulin mutation carriers |
| title_fullStr |
Disease-related cortical thinning in presymptomatic granulin mutation carriers |
| title_full_unstemmed |
Disease-related cortical thinning in presymptomatic granulin mutation carriers |
| title_sort |
Disease-related cortical thinning in presymptomatic granulin mutation carriers |
| author |
Borrego-Écija, Sergi |
| author_facet |
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. Di Fede, Giuseppe Redaelli, Veronica Rossi, Giacomina Tiraboschi, Pietro Duro, Diana Rosario Almeida, Maria Castelo-Branco, Miguel João Leitão, Maria Tabuas-Pereira, Miguel Finger, Elizabeth Anderl-Straub, Sarah Santiago, Beatriz Gauthier, Serge Rosa-Neto, Pedro Veldsman, Michele Flanagan, Toby Prix, Catharina Hoegen, Tobias Wlasich, Elisabeth Loosli, Sandra Schonecker, Sonja Tagliavini, Fabrizio Vandenberghe, Rik Semler, Elisa De Mendonça, Alexandre Santana, Isabel Synofzik, Matthis Ducharme, Simon Levin, Johannes Danek, Adrian Gerhard, Alex Otto, Markus Woollacott, Ione O.C. Butler, Chris Frisoni, Giovanni Sorbi, Sandro Heller, Carolin Bocchetta, Martina Cash, David M Convery, Rhian S Moore, Katrina M. Rohrer, Jonathan D. Sanchez-Valle, Raquel Shafei, Rachelle Rossor, Martin N. Fox, Nick C. Greaves, Caroline Neason, Mollie Guerreiro, Rita Bras, Jose Thomas, David L. Nicholas, Jennifer Mead, Simon Meeter, Lieke Olives, Jaume Panman, Jessica Papma, Janne van Minkelen, Rick Pijnenburg, Yolande Indakoetxea, Begoña Gabilondo, Alazne TaintaMD, Mikel de Arriba, Maria Gorostidi, Ana Zulaica, Miren Lladó, Albert Villanua, Jorge Diaz, Zigor Balasa, Mircea Antonell, Anna Bargallo, Nuria Premi, Enrico Cosseddu, Maura Gazzina, Stefano Padovani, Alessandro Gasparotti, Roberto Fenoglio, Chiara Archetti, Silvana Black, Sandra Mitchell, Sara Rogaeva, Ekaterina Freedman, Morris Keren, Ron Tang-Wai, David Öijerstedt, Linn Andersson, Christin Jelic, Vesna Scarpini MD, Elio Thonberg, Hakan Arighi, Andrea Fumagalli, Giorgio Cope, Thomas Timberlake, Carolyn Rittman, Timothy Shoesmith, Christen Bartha, Robart Rademakers, Rosa Wilke, Carlo Giaccone, Giorgio Bender, Benjamin Bruffaerts, Rose Vandamme, Philip Vandenbulcke, Mathieu Maruta, Carolina Ferreira, Catarina B. Miltenberger-Miltenyi, Gabriel Verdelho, Ana Afonso, Sónia Taipa, Ricardo Prioni, Sara Caroppo, Paola |
| author_role |
author |
| author2 |
Sala-Llonch, Roser van Swieten, John Borroni, Barbara Moreno, Fermín Masellis, Mario Tartaglia, Carmela Graff, Caroline Galimberti, Daniela Laforce, Robert Rowe, James B. Di Fede, Giuseppe Redaelli, Veronica Rossi, Giacomina Tiraboschi, Pietro Duro, Diana Rosario Almeida, Maria Castelo-Branco, Miguel João Leitão, Maria Tabuas-Pereira, Miguel Finger, Elizabeth Anderl-Straub, Sarah Santiago, Beatriz Gauthier, Serge Rosa-Neto, Pedro Veldsman, Michele Flanagan, Toby Prix, Catharina Hoegen, Tobias Wlasich, Elisabeth Loosli, Sandra Schonecker, Sonja Tagliavini, Fabrizio Vandenberghe, Rik Semler, Elisa De Mendonça, Alexandre Santana, Isabel Synofzik, Matthis Ducharme, Simon Levin, Johannes Danek, Adrian Gerhard, Alex Otto, Markus Woollacott, Ione O.C. Butler, Chris Frisoni, Giovanni Sorbi, Sandro Heller, Carolin Bocchetta, Martina Cash, David M Convery, Rhian S Moore, Katrina M. Rohrer, Jonathan D. Sanchez-Valle, Raquel Shafei, Rachelle Rossor, Martin N. Fox, Nick C. Greaves, Caroline Neason, Mollie Guerreiro, Rita Bras, Jose Thomas, David L. Nicholas, Jennifer Mead, Simon Meeter, Lieke Olives, Jaume Panman, Jessica Papma, Janne van Minkelen, Rick Pijnenburg, Yolande Indakoetxea, Begoña Gabilondo, Alazne TaintaMD, Mikel de Arriba, Maria Gorostidi, Ana Zulaica, Miren Lladó, Albert Villanua, Jorge Diaz, Zigor Balasa, Mircea Antonell, Anna Bargallo, Nuria Premi, Enrico Cosseddu, Maura Gazzina, Stefano Padovani, Alessandro Gasparotti, Roberto Fenoglio, Chiara Archetti, Silvana Black, Sandra Mitchell, Sara Rogaeva, Ekaterina Freedman, Morris Keren, Ron Tang-Wai, David Öijerstedt, Linn Andersson, Christin Jelic, Vesna Scarpini MD, Elio Thonberg, Hakan Arighi, Andrea Fumagalli, Giorgio Cope, Thomas Timberlake, Carolyn Rittman, Timothy Shoesmith, Christen Bartha, Robart Rademakers, Rosa Wilke, Carlo Giaccone, Giorgio Bender, Benjamin Bruffaerts, Rose Vandamme, Philip Vandenbulcke, Mathieu Maruta, Carolina Ferreira, Catarina B. Miltenberger-Miltenyi, Gabriel Verdelho, Ana Afonso, Sónia Taipa, Ricardo Prioni, Sara Caroppo, Paola |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Repositório da Universidade de Lisboa |
| dc.contributor.author.fl_str_mv |
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. Di Fede, Giuseppe Redaelli, Veronica Rossi, Giacomina Tiraboschi, Pietro Duro, Diana Rosario Almeida, Maria Castelo-Branco, Miguel João Leitão, Maria Tabuas-Pereira, Miguel Finger, Elizabeth Anderl-Straub, Sarah Santiago, Beatriz Gauthier, Serge Rosa-Neto, Pedro Veldsman, Michele Flanagan, Toby Prix, Catharina Hoegen, Tobias Wlasich, Elisabeth Loosli, Sandra Schonecker, Sonja Tagliavini, Fabrizio Vandenberghe, Rik Semler, Elisa De Mendonça, Alexandre Santana, Isabel Synofzik, Matthis Ducharme, Simon Levin, Johannes Danek, Adrian Gerhard, Alex Otto, Markus Woollacott, Ione O.C. Butler, Chris Frisoni, Giovanni Sorbi, Sandro Heller, Carolin Bocchetta, Martina Cash, David M Convery, Rhian S Moore, Katrina M. Rohrer, Jonathan D. Sanchez-Valle, Raquel Shafei, Rachelle Rossor, Martin N. Fox, Nick C. Greaves, Caroline Neason, Mollie Guerreiro, Rita Bras, Jose Thomas, David L. Nicholas, Jennifer Mead, Simon Meeter, Lieke Olives, Jaume Panman, Jessica Papma, Janne van Minkelen, Rick Pijnenburg, Yolande Indakoetxea, Begoña Gabilondo, Alazne TaintaMD, Mikel de Arriba, Maria Gorostidi, Ana Zulaica, Miren Lladó, Albert Villanua, Jorge Diaz, Zigor Balasa, Mircea Antonell, Anna Bargallo, Nuria Premi, Enrico Cosseddu, Maura Gazzina, Stefano Padovani, Alessandro Gasparotti, Roberto Fenoglio, Chiara Archetti, Silvana Black, Sandra Mitchell, Sara Rogaeva, Ekaterina Freedman, Morris Keren, Ron Tang-Wai, David Öijerstedt, Linn Andersson, Christin Jelic, Vesna Scarpini MD, Elio Thonberg, Hakan Arighi, Andrea Fumagalli, Giorgio Cope, Thomas Timberlake, Carolyn Rittman, Timothy Shoesmith, Christen Bartha, Robart Rademakers, Rosa Wilke, Carlo Giaccone, Giorgio Bender, Benjamin Bruffaerts, Rose Vandamme, Philip Vandenbulcke, Mathieu Maruta, Carolina Ferreira, Catarina B. Miltenberger-Miltenyi, Gabriel Verdelho, Ana Afonso, Sónia Taipa, Ricardo Prioni, Sara Caroppo, Paola |
| dc.subject.por.fl_str_mv |
Frontotemporal dementia Cortical thickness GRN Presymptomatic Genetic mutations |
| topic |
Frontotemporal dementia Cortical thickness GRN Presymptomatic Genetic mutations |
| description |
© 2020 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license. |
| publishDate |
2021 |
| dc.date.none.fl_str_mv |
2021-02-10T12:32:43Z 2021 2021-01-01T00:00:00Z |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
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http://hdl.handle.net/10451/46269 |
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http://hdl.handle.net/10451/46269 |
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eng |
| language |
eng |
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Neuroimage Clin. 2020 Dec 29;29:102540 10.1016/j.nicl.2020.102540 2213-1582 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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Elsevier |
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Elsevier |
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