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@ARTICLE{RodriguezVieitez:282289,
      author       = {Rodriguez-Vieitez, Elena and Rydell, Melissa T and Ullgren,
                      Abbe and Montal, Victor and Illán-Gala, Ignacio and Fortea,
                      Juan and Jelic, Vesna and Bouzigues, Arabella and Russell,
                      Lucy L and Foster, Phoebe H and Ferry-Bolder, Eve and van
                      Swieten, John C and Jiskoot, Lize C and Seelaar, Harro and
                      Sanchez-Valle, Raquel and Laforce, Robert and Galimberti,
                      Daniela and Vandenberghe, Rik and de Mendonça, Alexandre
                      and Tiraboschi, Pietro and Santana, Isabel and Gerhard,
                      Alexander and Levin, Johannes and Sorbi, Sandro and Otto,
                      Markus and Pasquier, Florence and Ducharme, Simon and
                      Butler, Chris R and Le Ber, Isabelle and Finger, Elizabeth
                      and Tartaglia, Maria Carmela and Masellis, Mario and Rowe,
                      James B and Synofzik, Matthis and Moreno, Fermin and
                      Borroni, Barbara and Rohrer, Jonathan D and Westman, Eric
                      and Graff, Caroline},
      collaboration = {Initiative, Genetic Frontotemporal Dementia},
      othercontributors = {van Swieten, John C and de Mendonça, Alexandre and Le Ber,
                          Isabelle},
      title        = {{C}ortical microstructure is associated with disease
                      severity and clinical progression in genetic frontotemporal
                      dementia: a {GENFI} study.},
      journal      = {Molecular psychiatry},
      volume       = {30},
      number       = {12},
      issn         = {1359-4184},
      address      = {[London]},
      publisher    = {Springer Nature},
      reportid     = {DZNE-2025-01260},
      pages        = {5800 - 5812},
      year         = {2025},
      abstract     = {The 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.},
      keywords     = {Humans / Female / Male / Frontotemporal Dementia: genetics
                      / Frontotemporal Dementia: pathology / Frontotemporal
                      Dementia: diagnostic imaging / Middle Aged / Disease
                      Progression / tau Proteins: genetics / C9orf72 Protein:
                      genetics / Progranulins: genetics / Adult / Cerebral Cortex:
                      pathology / Cerebral Cortex: diagnostic imaging /
                      Cross-Sectional Studies / Aged / Mutation: genetics /
                      Magnetic Resonance Imaging: methods / Severity of Illness
                      Index / Diffusion Magnetic Resonance Imaging: methods / tau
                      Proteins (NLM Chemicals) / C9orf72 Protein (NLM Chemicals) /
                      Progranulins (NLM Chemicals) / MAPT protein, human (NLM
                      Chemicals) / GRN protein, human (NLM Chemicals) / C9orf72
                      protein, human (NLM Chemicals)},
      cin          = {Clinical Research (Munich) / AG Levin / AG Gasser},
      ddc          = {610},
      cid          = {I:(DE-2719)1111015 / I:(DE-2719)1111016 /
                      I:(DE-2719)1210000},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41068257},
      pmc          = {pmc:PMC12602311},
      doi          = {10.1038/s41380-025-03280-x},
      url          = {https://pub.dzne.de/record/282289},
}