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Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results

2024Journal article Open access
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dc.contributor.authorThe Genetic Frontotemporal Dementia Initiative (GENFI)
dc.contributor.authorPasternak, Maurice
dc.contributor.authorMirza, Saira S.
dc.contributor.authorLuciw, Nicholas
dc.contributor.authorMutsaerts, Henri J. M. M.
dc.contributor.authorPetr, Jan
dc.contributor.authorThomas, David L.
dc.contributor.authorCash, David
dc.contributor.authorBocchetta, Martina
dc.contributor.authorTartaglia, Maria Carmela
dc.contributor.authorMitchell, Sara B.
dc.contributor.authorBlack, Sandra E.
dc.contributor.authorFreedman, Morris
dc.contributor.authorTang-Wai, David
dc.contributor.authorRogaeva, Ekaterina
dc.contributor.authorRussell, Lucy L.
dc.contributor.authorBouzigues, Arabella
dc.contributor.authorSwieten, John C. van
dc.contributor.authorJiskoot, Lize C.
dc.contributor.authorSeelaar, Harro
dc.contributor.authorLaforce, Robert
dc.contributor.authorTiraboschi, Pietro
dc.contributor.authorBorroni, Barbara
dc.contributor.authorGalimberti, Daniela
dc.contributor.authorRowe, James B.
dc.contributor.authorGraff, Caroline
dc.contributor.authorFinger, Elizabeth
dc.contributor.authorSorbi, Sandro
dc.contributor.authorMendonça, Alexandre de
dc.contributor.authorButler, Chris
dc.contributor.authorGerhard, Alex
dc.contributor.authorSanchez-Valle, Raquel
dc.contributor.authorMoreno, Fermin
dc.contributor.authorSynofzik, Matthis
dc.contributor.authorVandenberghe, Rik
dc.contributor.authorDucharme, Simon
dc.contributor.authorLevin, Johannes
dc.contributor.authorOtto, Markus
dc.contributor.authorSantana, Isabel
dc.contributor.authorStrafella, Antonio P.
dc.contributor.authorMacIntosh, Bradley J.
dc.contributor.authorRohrer, Jonathan D.
dc.contributor.authorMasellis, Mario
dc.contributor.authorNelson, Annabel
dc.contributor.authorTodd, Emily
dc.contributor.authorBenotmane, Hanya
dc.contributor.authorNicholas, Jennifer
dc.contributor.authorSamra, Kiran
dc.contributor.authorCouto, Frederico Simões do
dc.date.accessioned2024-06-18T15:26:38Z
dc.date.available2024-06-18T15:26:38Z
dc.date.issued2024
dc.description.abstractINTRODUCTION: Effective longitudinal biomarkers that track disease progression are needed to characterize the presymptomatic phase of genetic frontotemporal dementia (FTD). We investigate the utility of cerebral perfusion as one such biomarker in presymptomatic FTD mutation carriers. METHODS: We investigated longitudinal profiles of cerebral perfusion using arterial spin labeling magnetic resonance imaging in 42 C9orf72, 70 GRN, and 31 MAPT presymptomatic carriers and 158 non-carrier controls. Linear mixed effects models assessed perfusion up to 5 years after baseline assessment. RESULTS: Perfusion decline was evident in all three presymptomatic groups in global gray matter. Each group also featured its own regional pattern of hypoperfusion over time, with the left thalamus common to all groups. Frontal lobe regions featured lower perfusion in those who symptomatically converted versus asymptomatic carriers past their expected age of disease onset. DISCUSSION: Cerebral perfusion is a potential biomarker for assessing genetic FTD and its genetic subgroups prior to symptom onset. Highlights: Gray matter perfusion declines in at-risk genetic frontotemporal dementia (FTD). Regional perfusion decline differs between at-risk genetic FTD subgroups. Hypoperfusion in the left thalamus is common across all presymptomatic groups. Converters exhibit greater right frontal hypoperfusion than non-converters past their expected conversion date. Cerebral hypoperfusion is a potential early biomarker of genetic FTD.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doi10.1002/alz.13750pt_PT
dc.identifier.eid85190996392
dc.identifier.issn1552-5260
dc.identifier.pmcPMC11095434
dc.identifier.pmid38623902
dc.identifier.urihttp://hdl.handle.net/10400.14/45518
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectArterial spin labelingpt_PT
dc.subjectCerebral perfusionpt_PT
dc.subjectFrontotemporal dementiapt_PT
dc.subjectPresymptomatic biomarkerpt_PT
dc.titleLongitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI resultspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage3542pt_PT
oaire.citation.issue5pt_PT
oaire.citation.startPage3525pt_PT
oaire.citation.titleAlzheimer's and Dementiapt_PT
oaire.citation.volume20pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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