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000282289 1001_ $$00000-0002-6639-8141$$aRodriguez-Vieitez, Elena$$b0
000282289 245__ $$aCortical microstructure is associated with disease severity and clinical progression in genetic frontotemporal dementia: a GENFI study.
000282289 260__ $$a[London]$$bSpringer Nature$$c2025
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000282289 520__ $$aThe study of genetic frontotemporal dementia (FTD) allows investigating its earliest presymptomatic stages. Using cross-sectional T1-weighted and diffusion-weighted MRI, we test the hypothesis that cortical microstructural alterations, quantified as cortical mean diffusivity (cMD), are detectable earlier and are more strongly associated with clinical progression than cortical thickness (CTh). The sample comprised n = 710 individuals (47.8 ± 13.5 years, 56.6% female, 14.1 ± 3.3 years of education), including 118 symptomatic carriers and 305 presymptomatic carriers with mutations in C9orf72, GRN or MAPT genes, and 287 non-carriers, collected from 24 GENFI sites. A subset of n = 453 individuals (289 carriers, 164 non-carriers) were investigated across Clinical Dementia Rating (CDR) = 0, 0.5 and ≥1 stages. Two subsets had longitudinal clinical outcome measures, including n = 403 individuals (239 carriers, 164 non-carriers) with Cambridge Behavioural Inventory-Revised scores during 2.8 ± 1.6 years, and n = 261 individuals (164 carriers, 97 non-carriers) with CDR Sum-of-Boxes scores during 2.0 ± 0.8 years. Regional cMD and CTh were entered into linear mixed-effects models incorporating age, sex and education as covariates; site, and individual nested within site were random intercepts. The results demonstrated that cMD is more sensitive than CTh to track early cortical injury, with elevated cMD first observed at CDR = 0 in C9orf72 carriers, followed by MAPT carriers (from CDR = 0.5 stage), and by GRN carriers (beginning at CDR ≥ 1). At all stages, cortical microstructural injury had stronger effect size and was more widespread than cortical thinning. In all mutation carrier types, cMD was more strongly associated than CTh with subsequent clinical progression. Cortical microstructure is a promising biomarker to identify at-risk individuals before atrophy and clinical progression, with utility in therapeutic trials.
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000282289 650_7 $$2NLM Chemicals$$atau Proteins
000282289 650_7 $$2NLM Chemicals$$aC9orf72 Protein
000282289 650_7 $$2NLM Chemicals$$aProgranulins
000282289 650_7 $$2NLM Chemicals$$aMAPT protein, human
000282289 650_7 $$2NLM Chemicals$$aGRN protein, human
000282289 650_7 $$2NLM Chemicals$$aC9orf72 protein, human
000282289 650_2 $$2MeSH$$aHumans
000282289 650_2 $$2MeSH$$aFemale
000282289 650_2 $$2MeSH$$aMale
000282289 650_2 $$2MeSH$$aFrontotemporal Dementia: genetics
000282289 650_2 $$2MeSH$$aFrontotemporal Dementia: pathology
000282289 650_2 $$2MeSH$$aFrontotemporal Dementia: diagnostic imaging
000282289 650_2 $$2MeSH$$aMiddle Aged
000282289 650_2 $$2MeSH$$aDisease Progression
000282289 650_2 $$2MeSH$$atau Proteins: genetics
000282289 650_2 $$2MeSH$$aC9orf72 Protein: genetics
000282289 650_2 $$2MeSH$$aProgranulins: genetics
000282289 650_2 $$2MeSH$$aAdult
000282289 650_2 $$2MeSH$$aCerebral Cortex: pathology
000282289 650_2 $$2MeSH$$aCerebral Cortex: diagnostic imaging
000282289 650_2 $$2MeSH$$aCross-Sectional Studies
000282289 650_2 $$2MeSH$$aAged
000282289 650_2 $$2MeSH$$aMutation: genetics
000282289 650_2 $$2MeSH$$aMagnetic Resonance Imaging: methods
000282289 650_2 $$2MeSH$$aSeverity of Illness Index
000282289 650_2 $$2MeSH$$aDiffusion Magnetic Resonance Imaging: methods
000282289 7001_ $$aRydell, Melissa T$$b1
000282289 7001_ $$aUllgren, Abbe$$b2
000282289 7001_ $$aMontal, Victor$$b3
000282289 7001_ $$aIllán-Gala, Ignacio$$b4
000282289 7001_ $$00000-0002-1340-638X$$aFortea, Juan$$b5
000282289 7001_ $$aJelic, Vesna$$b6
000282289 7001_ $$00000-0002-0267-8590$$aBouzigues, Arabella$$b7
000282289 7001_ $$aRussell, Lucy L$$b8
000282289 7001_ $$aFoster, Phoebe H$$b9
000282289 7001_ $$aFerry-Bolder, Eve$$b10
000282289 7001_ $$avan Swieten, John C$$b11
000282289 7001_ $$aJiskoot, Lize C$$b12
000282289 7001_ $$00000-0003-1989-7527$$aSeelaar, Harro$$b13
000282289 7001_ $$aSanchez-Valle, Raquel$$b14
000282289 7001_ $$aLaforce, Robert$$b15
000282289 7001_ $$00000-0002-9284-5953$$aGalimberti, Daniela$$b16
000282289 7001_ $$00000-0001-6237-2502$$aVandenberghe, Rik$$b17
000282289 7001_ $$ade Mendonça, Alexandre$$b18
000282289 7001_ $$aTiraboschi, Pietro$$b19
000282289 7001_ $$aSantana, Isabel$$b20
000282289 7001_ $$aGerhard, Alexander$$b21
000282289 7001_ $$0P:(DE-2719)2811659$$aLevin, Johannes$$b22$$udzne
000282289 7001_ $$00000-0002-0380-6670$$aSorbi, Sandro$$b23
000282289 7001_ $$00000-0003-4273-4267$$aOtto, Markus$$b24
000282289 7001_ $$00000-0001-9880-9788$$aPasquier, Florence$$b25
000282289 7001_ $$00000-0002-7309-1113$$aDucharme, Simon$$b26
000282289 7001_ $$00000-0002-7502-9284$$aButler, Chris R$$b27
000282289 7001_ $$aLe Ber, Isabelle$$b28
000282289 7001_ $$aFinger, Elizabeth$$b29
000282289 7001_ $$00000-0002-5944-8497$$aTartaglia, Maria Carmela$$b30
000282289 7001_ $$aMasellis, Mario$$b31
000282289 7001_ $$00000-0001-7216-8679$$aRowe, James B$$b32
000282289 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b33
000282289 7001_ $$00000-0001-5200-3164$$aMoreno, Fermin$$b34
000282289 7001_ $$aBorroni, Barbara$$b35
000282289 7001_ $$aRohrer, Jonathan D$$b36
000282289 7001_ $$00000-0002-3115-2977$$aWestman, Eric$$b37
000282289 7001_ $$00000-0002-9949-2951$$aGraff, Caroline$$b38
000282289 7001_ $$aInitiative, Genetic Frontotemporal Dementia$$b39$$eCollaboration Author
000282289 7001_ $$avan Swieten, John C$$b40$$eContributor
000282289 7001_ $$ade Mendonça, Alexandre$$b41$$eContributor
000282289 7001_ $$aLe Ber, Isabelle$$b42$$eContributor
000282289 773__ $$0PERI:(DE-600)1502531-7$$a10.1038/s41380-025-03280-x$$gVol. 30, no. 12, p. 5800 - 5812$$n12$$p5800 - 5812$$tMolecular psychiatry$$v30$$x1359-4184$$y2025
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