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dc.contributor.authorGazzina, Stefano
dc.contributor.authorGrassi, Mario
dc.contributor.authorPremi, Enrico
dc.contributor.authorAlberici, Antonella
dc.contributor.authorBenussi, Alberto
dc.contributor.authorArchetti, Silvana
dc.contributor.authorGasparotti, Roberto
dc.contributor.authorBocchetta, Martina
dc.contributor.authorCash, David M
dc.contributor.authorTodd, Emily G
dc.contributor.authorPeakman, Georgia
dc.contributor.authorConvery, Rhian S
dc.contributor.authorvan Swieten, John C
dc.contributor.authorJiskoot, Lize C
dc.contributor.authorSeelaar, Harro
dc.contributor.authorSanchez-Valle, Raquel
dc.contributor.authorMoreno, Fermin
dc.contributor.authorLaforce, Robert
dc.contributor.authorGraff, Caroline
dc.contributor.authorSynofzik, Matthis
dc.contributor.authorGalimberti, Daniela
dc.contributor.authorRowe, James B
dc.contributor.authorMasellis, Mario
dc.contributor.authorTartaglia, Maria Carmela
dc.contributor.authorFinger, Elizabeth
dc.contributor.authorVandenberghe, Rik
dc.contributor.authorde Mendonça, Alexandre
dc.contributor.authorTagliavini, Fabrizio
dc.contributor.authorButler, Chris R
dc.contributor.authorSantana, Isabel
dc.contributor.authorGerhard, Alexander
dc.contributor.authorBer, Isabelle Le
dc.contributor.authorPasquier, Florence
dc.contributor.authorDucharme, Simon
dc.contributor.authorLevin, Johannes
dc.contributor.authorDanek, Adrian
dc.contributor.authorSorbi, Sandro
dc.contributor.authorOtto, Markus
dc.contributor.authorRohrer, Jonathan D
dc.contributor.authorBorroni, Barbara
dc.contributor.authorGenetic Frontotemporal dementia Initiative (GENFI)
dc.date.accessioned2022-07-18T23:30:06Z
dc.date.available2022-07-18T23:30:06Z
dc.date.issued2022-06
dc.identifier.issn0197-4580
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/339216
dc.description.abstractFrontotemporal dementia associated with granulin (GRN) mutations presents asymmetric brain atrophy. We applied a Minimum Spanning Tree plus an Efficiency Cost Optimization approach to cortical thickness data in order to test whether graph theory measures could identify global or local impairment of connectivity in the presymptomatic phase of pathology, where other techniques failed in demonstrating changes. We included 52 symptomatic GRN mutation carriers (SC), 161 presymptomatic GRN mutation carriers (PSC) and 341 non-carriers relatives from the Genetic Frontotemporal dementia research Initiative cohort. Group differences of global, nodal and edge connectivity in (Minimum Spanning Tree plus an Efficiency Cost Optimization) graph were tested via Structural Equation Models. Global graph perturbation was selectively impaired in SC compared to non-carriers, with no changes in PSC. At the local level, only SC exhibited perturbation of frontotemporal nodes, but edge connectivity revealed a characteristic pattern of interhemispheric disconnection, involving homologous parietal regions, in PSC. Our results suggest that GRN-related frontotemporal dementia resembles a disconnection syndrome, with interhemispheric disconnection between parietal regions in presymptomatic phases that progresses to frontotemporal areas as symptoms emerge.
dc.format.mediumPrint-Electronic
dc.publisherElsevier BV
dc.rightsAll Rights Reserved
dc.rights.urihttp://www.rioxx.net/licenses/all-rights-reserved
dc.subjectFrontotemporal dementia
dc.subjectGranulin
dc.subjectGraph theory
dc.subjectMutation
dc.subjectProgranulin
dc.subjectStructural MRI
dc.subjectAtrophy
dc.subjectBrain
dc.subjectFrontotemporal Dementia
dc.subjectGranulins
dc.subjectHumans
dc.subjectMagnetic Resonance Imaging
dc.subjectMutation
dc.subjectPick Disease of the Brain
dc.titleStructural brain splitting is a hallmark of Granulin-related frontotemporal dementia.
dc.typeArticle
dc.publisher.departmentDepartment of Clinical Neurosciences
dc.date.updated2022-06-24T16:12:23Z
prism.endingPage104
prism.publicationDate2022
prism.publicationNameNeurobiol Aging
prism.startingPage94
prism.volume114
dc.identifier.doi10.17863/CAM.86626
dcterms.dateAccepted2022-02-19
rioxxterms.versionofrecord10.1016/j.neurobiolaging.2022.02.009
rioxxterms.versionAM
dc.contributor.orcidRowe, James [0000-0001-7216-8679]
dc.identifier.eissn1558-1497
rioxxterms.typeJournal Article/Review
pubs.funder-project-idNational Institute for Health Research (IS-BRC-1215-20014)
pubs.funder-project-idMedical Research Council (MC_UU_00005/12)
pubs.funder-project-idCambridge University Hospitals NHS Foundation Trust (CUH) (146281)
cam.issuedOnline2022-02-26
cam.orpheus.success2022-07-18 - Embargo set during processing via Fast-track
cam.depositDate2022-06-24
pubs.licence-identifierapollo-deposit-licence-2-1
pubs.licence-display-nameApollo Repository Deposit Licence Agreement
rioxxterms.freetoread.startdate2023-06-30


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