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@ARTICLE{Kancheva:281113,
      author       = {Kancheva, Ivana Kirilova and Bouzigues, Arabella and
                      Russell, Lucy Louise and Foster, Phoebe H and Ferry-Bolder,
                      Eve and Van Swieten, John C and Jiskoot, Lize Corrine and
                      Seelaar, Harro and Sánchez-Valle, Raquel and Laforce,
                      Robert and Graff, Caroline 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 Ducharme, Simon and Butler, Christopher and Le
                      Ber, Isabelle and Finger, Elizabeth and Tartaglia, Maria
                      Carmela and Masellis, Mario and Synofzik, Matthis and
                      Moreno, Fermin and Borroni, Barbara and Rohrer, Jonathan
                      Daniel and van der Weerd, Louise and Rowe, James B and
                      Tsvetanov, Kamen},
      collaboration = {Consortium, GENFI},
      title        = {{C}erebrovascular {R}eactivity at {R}est and {I}ts
                      {A}ssociation {W}ith {C}ognitive {F}unction in {P}eople
                      {W}ith {G}enetic {F}rontotemporal {D}ementia.},
      journal      = {Neurology},
      volume       = {105},
      number       = {6},
      issn         = {0028-3878},
      address      = {Philadelphia, Pa.},
      publisher    = {Wolters Kluwer},
      reportid     = {DZNE-2025-01074},
      pages        = {e213677},
      year         = {2025},
      abstract     = {Cerebrovascular reactivity (CVR) is an indicator of
                      cerebrovascular health, and its signature in familial
                      frontotemporal dementia (FTD) remains unknown. The primary
                      aim was to investigate CVR in genetic FTD using an fMRI
                      index of vascular contractility termed resting-state
                      fluctuation amplitudes (RSFAs) and to assess whether RSFA
                      differences are moderated by age. A secondary aim was to
                      study the relationship between RSFA and
                      cognition.Participants included presymptomatic and
                      symptomatic C9orf72, GRN, and MAPT pathogenic variation
                      carriers, along with noncarriers, from the prospective
                      Genetic FTD Initiative cohort study. Cross-sectional
                      differences in CVR were assessed using both component-based
                      and voxel-level RSFA maps. To study disease
                      progression-related effects, the moderating effect of age on
                      differences between genetic status groups was analyzed using
                      generalized linear models. The influence of RSFA, and its
                      interaction with genetic status, on participants' cognitive
                      function was also examined. All models were adjusted for
                      sex, handedness, and scanning site and false discovery
                      rate-corrected at p < 0.05.A total of 284 presymptomatic and
                      124 symptomatic sequence variation carriers, and 265
                      noncarriers, were included in the analysis (mean age 48.17
                      years, $55\%$ female). Across the sample, symptomatic
                      carriers exhibited lower RSFA and a greater age-related RSFA
                      decline predominantly in the medial frontal (-0.07 standard
                      units, p = 0.046, $95\%$ CI -0.13 to -0.01) and posterior
                      parietal (-0.06 standard units, p = 0.048, $95\%$ CI -0.12
                      to 0.01) cortex, compared with presymptomatic carriers and
                      noncarriers. RSFA was inversely correlated with age (-0.43
                      standard units, p < 0.001, $95\%$ CI -0.48 to -0.37) and
                      positively associated with cognitive function (0.09 standard
                      units, p = 0.008, $95\%$ CI 0.04-0.15), particularly in the
                      prefrontal cortex, in sequence variation carriers across the
                      sample, independent of disease stage.CVR impairment in
                      genetic FTD has a predilection for the middle frontal and
                      posterior cortex, and its preservation may yield a cognitive
                      benefit for at-risk individuals. Although findings do not
                      provide causality and warrant replication, they support the
                      notion that vascular dysfunction in familial FTD may be a
                      target for biomarker identification and disease-modifying
                      efforts.},
      keywords     = {Humans / Male / Female / Frontotemporal Dementia: genetics
                      / Frontotemporal Dementia: physiopathology / Frontotemporal
                      Dementia: diagnostic imaging / Frontotemporal Dementia:
                      psychology / Middle Aged / Magnetic Resonance Imaging /
                      Cognition: physiology / Aged / C9orf72 Protein: genetics /
                      Cross-Sectional Studies / tau Proteins: genetics /
                      Cerebrovascular Circulation: physiology / Progranulins:
                      genetics / Adult / Brain: diagnostic imaging / Brain:
                      physiopathology / Brain: blood supply / Rest / C9orf72
                      Protein (NLM Chemicals) / tau Proteins (NLM Chemicals) /
                      MAPT protein, human (NLM Chemicals) / C9orf72 protein, human
                      (NLM Chemicals) / Progranulins (NLM Chemicals) / GRN
                      protein, human (NLM Chemicals)},
      cin          = {AG Levin / Clinical Research (Munich) / AG Gasser},
      ddc          = {610},
      cid          = {I:(DE-2719)1111016 / I:(DE-2719)1111015 /
                      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:40906975},
      doi          = {10.1212/WNL.0000000000213677},
      url          = {https://pub.dzne.de/record/281113},
}