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Temporal order of clinical and biomarker changes in familial frontotemporal dementia

2022-10Journal article Open access
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dc.contributor.authorFrontotemporal Dementia Prevention Initiative (FPI) Investigators
dc.contributor.authorALLFTD Investigators
dc.contributor.authorGENFI investigators
dc.contributor.authorStaffaroni, Adam M.
dc.contributor.authorQuintana, Melanie
dc.contributor.authorWendelberger, Barbara
dc.contributor.authorHeuer, Hilary W.
dc.contributor.authorRussell, Lucy L.
dc.contributor.authorCobigo, Yann
dc.contributor.authorWolf, Amy
dc.contributor.authorGoh, Sheng Yang Matt
dc.contributor.authorPetrucelli, Leonard
dc.contributor.authorGendron, Tania F.
dc.contributor.authorHeller, Carolin
dc.contributor.authorClark, Annie L.
dc.contributor.authorTaylor, Jack Carson
dc.contributor.authorWise, Amy
dc.contributor.authorOng, Elise
dc.contributor.authorForsberg, Leah
dc.contributor.authorBrushaber, Danielle
dc.contributor.authorRojas, Julio C.
dc.contributor.authorVandeVrede, Lawren
dc.contributor.authorLjubenkov, Peter
dc.contributor.authorKramer, Joel
dc.contributor.authorCasaletto, Kaitlin B.
dc.contributor.authorAppleby, Brian
dc.contributor.authorBordelon, Yvette
dc.contributor.authorBotha, Hugo
dc.contributor.authorDickerson, Bradford C.
dc.contributor.authorDomoto-Reilly, Kimiko
dc.contributor.authorFields, Julie A.
dc.contributor.authorForoud, Tatiana
dc.contributor.authorGavrilova, Ralitza
dc.contributor.authorGeschwind, Daniel
dc.contributor.authorGhoshal, Nupur
dc.contributor.authorGoldman, Jill
dc.contributor.authorGraff-Radford, Jonathon
dc.contributor.authorGraff-Radford, Neill
dc.contributor.authorGrossman, Murray
dc.contributor.authorHall, Matthew G.H.
dc.contributor.authorHsiung, Ging Yuek
dc.contributor.authorHuey, Edward D.
dc.contributor.authorIrwin, David
dc.contributor.authorJones, David T.
dc.contributor.authorKantarci, Kejal
dc.contributor.authorKaufer, Daniel
dc.contributor.authorKnopman, David
dc.contributor.authorKremers, Walter
dc.contributor.authorLago, Argentina Lario
dc.contributor.authorLapid, Maria I.
dc.contributor.authorMaruta, Carolina
dc.contributor.authorSimões do Couto, Frederico
dc.contributor.authorAlmeida, Maria Rosario
dc.date.accessioned2023-05-17T13:39:15Z
dc.date.available2023-05-17T13:39:15Z
dc.date.issued2022-10
dc.description.abstractUnlike familial Alzheimer’s disease, we have been unable to accurately predict symptom onset in presymptomatic familial frontotemporal dementia (f-FTD) mutation carriers, which is a major hurdle to designing disease prevention trials. We developed multimodal models for f-FTD disease progression and estimated clinical trial sample sizes in C9orf72, GRN and MAPT mutation carriers. Models included longitudinal clinical and neuropsychological scores, regional brain volumes and plasma neurofilament light chain (NfL) in 796 carriers and 412 noncarrier controls. We found that the temporal ordering of clinical and biomarker progression differed by genotype. In prevention-trial simulations using model-based patient selection, atrophy and NfL were the best endpoints, whereas clinical measures were potential endpoints in early symptomatic trials. f-FTD prevention trials are feasible but will likely require global recruitment efforts. These disease progression models will facilitate the planning of f-FTD clinical trials, including the selection of optimal endpoints and enrollment criteria to maximize power to detect treatment effects.pt_PT
dc.description.versioninfo:eu-repo/semantics/acceptedVersionpt_PT
dc.identifier.doi10.1038/s41591-022-01942-9pt_PT
dc.identifier.eid85139804219
dc.identifier.issn1078-8956
dc.identifier.pmcPMC9951811
dc.identifier.pmid36138153
dc.identifier.urihttp://hdl.handle.net/10400.14/41156
dc.identifier.wos000860213200001
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.titleTemporal order of clinical and biomarker changes in familial frontotemporal dementiapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage2206pt_PT
oaire.citation.issue10pt_PT
oaire.citation.startPage2194pt_PT
oaire.citation.titleNature Medicinept_PT
oaire.citation.volume28pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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