% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Russell:280115,
      author       = {Russell, Lucy Louise and Bouzigues, Arabella and Convery,
                      Rhian S and Foster, Phoebe H and Ferry-Bolder, Eve and Cash,
                      David M and Van Swieten, John C and Jiskoot, Lize Corrine
                      and Seelaar, Harro and Moreno, Fermin and Sánchez-Valle,
                      Raquel and Laforce, Robert and Graff, Caroline and Masellis,
                      Mario and Tartaglia, Maria Carmela and Rowe, James B and
                      Borroni, Barbara and Finger, Elizabeth and Synofzik, Matthis
                      and Galimberti, Daniela and Vandenberghe, Rik and de
                      Mendonça, Alexandre and Butler, Christopher and Gerhard,
                      Alexander and Ducharme, Simon and Le Ber, Isabelle and
                      Santana, Isabel and Pasquier, Florence and Levin, Johannes
                      and Sorbi, Sandro and Otto, Markus and Rohrer, Jonathan
                      Daniel},
      collaboration = {Initiative, Genetic FTD},
      title        = {{E}xecutive {F}unction {D}eficits in {G}enetic
                      {F}rontotemporal {D}ementia: {R}esults {F}rom the {GENFI}
                      {S}tudy.},
      journal      = {Neurology / Genetics},
      volume       = {11},
      number       = {4},
      issn         = {2376-7839},
      address      = {Minneapolis, Minn.},
      publisher    = {[Verlag nicht ermittelbar]},
      reportid     = {DZNE-2025-00898},
      pages        = {e200248},
      year         = {2025},
      abstract     = {Executive dysfunction is a core feature of frontotemporal
                      dementia (FTD). While there has been extensive research into
                      such impairments in sporadic FTD, there has been little
                      research in the familial forms.Seven hundred fifty-two
                      individuals were recruited in total: 214 C9orf72; 205
                      progranulin (GRN) and 86 microtubule associated protein tau
                      (MAPT) mutation carriers, stratified into asymptomatic,
                      prodromal, and fully symptomatic; and 247 mutation-negative
                      controls. Attention and executive function were measured
                      using the Weschler Memory Scale-Revised (WMS-R) Digit Span
                      Backwards (DSB), Wechsler Adult Intelligence Scale-Revised
                      Digit Symbol task, Trail Making Test Parts A and B, and the
                      Delis-Kaplan Executive Function System Color Word
                      Interference Test. Linear regression models with
                      bootstrapping were used to assess differences between
                      groups. Correlation of task score with disease severity was
                      also performed, as well as an analysis of the
                      neuroanatomical correlates of each task.Fully symptomatic
                      C9orf72, GRN, and MAPT mutation carriers were significantly
                      impaired on all tasks compared with controls (all p <
                      0.001), except on the WMS-R DSB in the MAPT mutation
                      carriers (p = 0.147). While asymptomatic and prodromal
                      C9orf72 individuals also demonstrated differences compared
                      with controls, neither the GRN or MAPT asymptomatic or
                      prodromal mutation carriers showed significant deficits. All
                      tasks were significantly correlated with disease severity in
                      each of the genetic groups (all p < 0.001).Some individuals
                      with C9orf72 mutations show difficulties with executive
                      function from very early on in the disease and this
                      continues to deteriorate with disease severity. By contrast,
                      similar difficulties occur only in the later stages of the
                      disease in GRN and MAPT mutation carriers. This differential
                      performance across the genetic groups will be important in
                      neuropsychological task selection in upcoming clinical
                      trials.},
      cin          = {AG Gasser / Clinical Research (Munich) / AG Levin},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000 / I:(DE-2719)1111015 /
                      I:(DE-2719)1111016},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40703202},
      pmc          = {pmc:PMC12285671},
      doi          = {10.1212/NXG.0000000000200248},
      url          = {https://pub.dzne.de/record/280115},
}