%0 Journal Article
%A Wagner, Matias
%A Lorenz, Georg
%A Volk, Alexander E
%A Brunet, Theresa
%A Edbauer, Dieter
%A Berutti, Riccardo
%A Zhao, Chen
%A Anderl-Straub, Sarah
%A Bertram, Lars
%A Danek, Adrian
%A Deschauer, Marcus
%A Dill, Veronika
%A Fassbender, Klaus
%A Fliessbach, Klaus
%A Götze, Katharina S
%A Jahn, Holger
%A Kornhuber, Johannes
%A Landwehrmeyer, Bernhard
%A Lauer, Martin
%A Obrig, Hellmuth
%A Prudlo, Johannes
%A Schneider, Anja
%A Schroeter, Matthias L
%A Uttner, Ingo
%A Vukovich, Ruth C.
%A Wiltfang, Jens
%A Winkler, Andrea S
%A Zhou, Qihui
%A Ludolph, Albert C
%A Oexle, Konrad
%A Otto, Markus
%A Diehl-Schmid, Janine
%A Winkelmann, Juliane
%T Clinico-genetic findings in 509 frontotemporal dementia patients.
%J Molecular psychiatry
%V 26
%N 10
%@ 1476-5578
%C London
%I Macmillan
%M DZNE-2021-01580
%P 5824-5832
%D 2021
%Z CC BY
%X 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
%K C9orf72 Protein: genetics
%K Frontotemporal Dementia: genetics
%K Genotype
%K Humans
%K Male
%K Mutation
%K Retrospective Studies
%K Exome Sequencing
%K tau Proteins: genetics
%F PUB:(DE-HGF)16
%9 Journal Article
%2 pmc:PMC8758482
%$ pmid:34561610
%R 10.1038/s41380-021-01271-2
%U https://pub.dzne.de/record/162928