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@ARTICLE{Wagner:162928,
      author       = {Wagner, Matias and Lorenz, Georg and Volk, Alexander E and
                      Brunet, Theresa and Edbauer, Dieter and Berutti, Riccardo
                      and Zhao, Chen and Anderl-Straub, Sarah and Bertram, Lars
                      and Danek, Adrian and Deschauer, Marcus and Dill, Veronika
                      and Fassbender, Klaus and Fliessbach, Klaus and Götze,
                      Katharina S and Jahn, Holger and Kornhuber, Johannes and
                      Landwehrmeyer, Bernhard and Lauer, Martin and Obrig,
                      Hellmuth and Prudlo, Johannes and Schneider, Anja and
                      Schroeter, Matthias L and Uttner, Ingo and Vukovich, Ruth C.
                      and Wiltfang, Jens and Winkler, Andrea S and Zhou, Qihui and
                      Ludolph, Albert C and Oexle, Konrad and Otto, Markus and
                      Diehl-Schmid, Janine and Winkelmann, Juliane},
      collaboration = {consortium, German FTLD},
      title        = {{C}linico-genetic findings in 509 frontotemporal dementia
                      patients.},
      journal      = {Molecular psychiatry},
      volume       = {26},
      number       = {10},
      issn         = {1476-5578},
      address      = {London},
      publisher    = {Macmillan},
      reportid     = {DZNE-2021-01580},
      pages        = {5824-5832},
      year         = {2021},
      note         = {CC BY},
      abstract     = {Frontotemporal dementia (FTD) is a clinically and
                      genetically heterogeneous disorder. To which extent genetic
                      aberrations dictate clinical presentation remains elusive.
                      We investigated the spectrum of genetic causes and assessed
                      the genotype-driven differences in biomarker profiles,
                      disease severity and clinical manifestation by recruiting
                      509 FTD patients from different centers of the German FTLD
                      consortium where individuals were clinically assessed
                      including biomarker analysis. Exome sequencing as well as
                      C9orf72 repeat analysis were performed in all patients.
                      These genetic analyses resulted in a diagnostic yield of
                      $18.1\%.$ Pathogenic variants in C9orf72 (n = 47), GRN (n =
                      26), MAPT (n = 11), TBK1 (n = 5), FUS (n = 1), TARDBP (n =
                      1), and CTSF (n = 1) were identified across all clinical
                      subtypes of FTD. TBK1-associated FTD was frequent accounting
                      for $5.4\%$ of solved cases. Detection of a homozygous
                      missense variant verified CTSF as an FTD gene. ABCA7 was
                      identified as a candidate gene for monogenic FTD. The
                      distribution of APOE alleles did not differ significantly
                      between FTD patients and the average population. Male sex
                      was weakly associated with clinical manifestation of the
                      behavioral variant of FTD. Age of onset was lowest in MAPT
                      patients. Further, high CSF neurofilament light chain levels
                      were found to be related to GRN-associated FTD. Our study
                      provides large-scale retrospective clinico-genetic data such
                      as on disease manifestation and progression of FTD. These
                      data will be relevant for counseling patients and their
                      families.},
      keywords     = {C9orf72 Protein: genetics / Frontotemporal Dementia:
                      genetics / Genotype / Humans / Male / Mutation /
                      Retrospective Studies / Exome Sequencing / tau Proteins:
                      genetics},
      cin          = {AG Edbauer / AG Schneider / AG Teipel / AG Wiltfang /
                      Clinical Study Center Ulm / Patient Studies Bonn / AG Zhou},
      ddc          = {610},
      cid          = {I:(DE-2719)1110004 / I:(DE-2719)1011305 /
                      I:(DE-2719)1510100 / I:(DE-2719)1410006 / I:(DE-2719)5000077
                      / I:(DE-2719)1011101 / I:(DE-2719)5000080},
      pnm          = {353 - Clinical and Health Care Research (POF4-353) / 352 -
                      Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-353 / G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC8758482},
      pubmed       = {pmid:34561610},
      doi          = {10.1038/s41380-021-01271-2},
      url          = {https://pub.dzne.de/record/162928},
}