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@ARTICLE{Finger:169169,
      author       = {Finger, Elizabeth and Malik, Rubina and Bocchetta, Martina
                      and Coleman, Kristy and Graff, Caroline and Borroni, Barbara
                      and Masellis, Mario and Laforce, Robert and Greaves,
                      Caroline V and Russell, Lucy L and Convery, Rhian S and
                      Bouzigues, Arabella and Cash, David M and Otto, Markus and
                      Synofzik, Matthis and Rowe, James B and Galimberti, Daniela
                      and Tiraboschi, Pietro and Bartha, Robert and Shoesmith,
                      Christen and Tartaglia, Maria Carmela and van Swieten, John
                      C and Seelaar, Harro and Jiskoo, Lize C and Sorbi, Sandro
                      and Butler, Chris R and Gerhard, Alexander and
                      Sanchez-Valle, Raquel and de Mendonça, Alexandre and
                      Moreno, Fermin and Vandenberghe, Rik and Le Ber, Isabelle
                      and Levin, Johannes and Pasquier, Florence and Santana,
                      Isabel and Rohrer, Jonathan D and Ducharme, Simon},
      collaboration = {GENFI, Genetic FTD Initiative},
      othercontributors = {Esteve, Aitana Sogorb and Heller, Carolin and Thomas, David
                          L and Todd, Emily G and Nicholas, Jennifer and Benotmane,
                          Hanya and Zetterberg, Henrik and Swift, Imogen J and Samra,
                          Kiran and Shafei, Rachelle and Timberlake, Carolyn and Cope,
                          Thomas and Rittman, Timothy and Benussi, Alberto and Premi,
                          Enrico and Gasparotti, Roberto and Archetti, Silvana and
                          Gazzina, Stefano and Cantoni, Valentina and Arighi, Andrea
                          and Fenoglio, Chiara and Scarpini, Elio and Fumagalli,
                          Giorgio and Borracci, Vittoria and Rossi, Giacomina and
                          Giaccone, Giorgio and Di Fede, Giuseppe and Caroppo, Paola
                          and Tiraboschi, Pietro and Prioni, Sara and Redaelli,
                          Veronica and Tang-Wai, David and Rogaeva, Ekaterina and
                          Castelo-Branco, Miguel and Freedman, Morris and Keren, Ron
                          and Black, Sandra and Mitchell, Sara and Rademakers, Rosa
                          and Poos, Jackie and Papma, Janne M and Giannini, Lucia and
                          van Minkelen, Rick and Pijnenburg, Yolande and Nacmias,
                          Benedetta and Ferrari, Camilla and Polito, Cristina and
                          Lombardi, Gemma and Bessi, Valentina and Veldsman, Michele
                          and Andersson, Christin and Thonberg, Hakan and Öijerstedt,
                          Linn and Jelic, Vesna and Thompson, Paul and Langheinrich,
                          Tobias and Lladó, Albert and Antonell, Anna and Olives,
                          Jaume and Balasa, Mircea and Bargalló, Nuria and
                          Borrego-Ecija, Sergi and Verdelho, Ana and Maruta, Carolina
                          and Ferreira, Catarina B and Miltenberger, Gabriel and do
                          Couto, Frederico Simões and Gabilondo, Alazne and
                          Gorostidi, Ana and Villanua, Jorge and Cañada, Marta and
                          Tainta, Mikel and Zulaica, Miren and Barandiaran, Myriam and
                          Alves, Patricia and Bender, Benjamin and Wilke, Carlo and
                          Graf, Lisa and Vogels, Annick and Vandenbulcke, Mathieu and
                          Van Damme, Philip and Bruffaerts, Rose and Poesen, Koen and
                          Rosa-Neto, Pedro and Gauthier, Serge and Camuzat, Agnès and
                          Brice, Alexis and Bertrand, Anne and Funkiewiez, Aurélie
                          and Rinaldi, Daisy and Saracino, Dario and Colliot, Olivier
                          and Sayah, Sabrina and Prix, Catharina and Wlasich,
                          Elisabeth and Wagemann, Olivia and Loosli, Sandra and
                          Schönecker, Sonja and Hoegen, Tobias and Lombardi, Jolina
                          and Anderl-Straub, Sarah and Rollin, Adeline and Kuchcinski,
                          Gregory and Bertoux, Maxime and Lebouvier, Thibaud and
                          Deramecourt, Vincent and Santiago, Beatriz and Duro, Diana
                          and Leitão, Maria João and Almeida, Maria Rosario and
                          Tábuas-Pereira, Miguel and Afonso, Sónia},
      title        = {{N}eurodevelopmental effects of genetic frontotemporal
                      dementia in young adult mutation carriers},
      journal      = {Brain},
      volume       = {146},
      number       = {5},
      issn         = {0006-8950},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DZNE-2023-00048},
      pages        = {2120-2131},
      year         = {2023},
      abstract     = {While frontotemporal dementia has been considered a
                      neurodegenerative disease that starts in mid-life or later,
                      it is now clearly established that cortical and subcortical
                      volume loss is observed more than a decade prior to symptom
                      onset and progresses with ageing. To test the hypothesis
                      that genetic mutations causing frontotemporal dementia have
                      neurodevelopmental consequences, we examined the youngest
                      adults in the GENFI cohort of pre-symptomatic frontotemporal
                      dementia mutation carriers who are between 19 and 30 years
                      of age. Structural brain differences and improved
                      performance on some cognitive tests were found for MAPT and
                      GRN mutation carriers relative to familial non-carriers,
                      while smaller volumes were observed in C9orf72 repeat
                      expansion carriers at a mean age of 26 years. The detection
                      of such early differences supports potential advantageous
                      neurodevelopmental consequences of some frontotemporal
                      dementia-causing genetic mutations. These results have
                      implications for the design of therapeutic interventions for
                      frontotemporal dementia. Future studies at younger ages are
                      needed to identify specific early pathophysiologic or
                      compensatory processes that occur during the
                      neurodevelopmental period.},
      keywords     = {Humans / Young Adult / Adult / Frontotemporal Dementia:
                      genetics / Neurodegenerative Diseases / Progranulins:
                      genetics / Brain / Pick Disease of the Brain / Mutation /
                      C9orf72 Protein: genetics / tau Proteins: genetics /
                      Progranulins (NLM Chemicals) / C9orf72 (Other) / GRN (Other)
                      / MAPT (Other) / frontotemporal dementia (Other) /
                      neurodevelopment (Other) / C9orf72 Protein (NLM Chemicals) /
                      tau Proteins (NLM Chemicals)},
      cin          = {AG Gasser 1 / Clinical Dementia Research München ; AG
                      Levin},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000 / 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:36458975},
      doi          = {10.1093/brain/awac446},
      url          = {https://pub.dzne.de/record/169169},
}