TY  - JOUR
AU  - Wagner, Matias
AU  - Lorenz, Georg
AU  - Volk, Alexander E
AU  - Brunet, Theresa
AU  - Edbauer, Dieter
AU  - Berutti, Riccardo
AU  - Zhao, Chen
AU  - Anderl-Straub, Sarah
AU  - Bertram, Lars
AU  - Danek, Adrian
AU  - Deschauer, Marcus
AU  - Dill, Veronika
AU  - Fassbender, Klaus
AU  - Fliessbach, Klaus
AU  - Götze, Katharina S
AU  - Jahn, Holger
AU  - Kornhuber, Johannes
AU  - Landwehrmeyer, Bernhard
AU  - Lauer, Martin
AU  - Obrig, Hellmuth
AU  - Prudlo, Johannes
AU  - Schneider, Anja
AU  - Schroeter, Matthias L
AU  - Uttner, Ingo
AU  - Vukovich, Ruth C.
AU  - Wiltfang, Jens
AU  - Winkler, Andrea S
AU  - Zhou, Qihui
AU  - Ludolph, Albert C
AU  - Oexle, Konrad
AU  - Otto, Markus
AU  - Diehl-Schmid, Janine
AU  - Winkelmann, Juliane
TI  - Clinico-genetic findings in 509 frontotemporal dementia patients.
JO  - Molecular psychiatry
VL  - 26
IS  - 10
SN  - 1476-5578
CY  - London
PB  - Macmillan
M1  - DZNE-2021-01580
SP  - 5824-5832
PY  - 2021
N1  - CC BY
AB  - 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
KW  - C9orf72 Protein: genetics
KW  - Frontotemporal Dementia: genetics
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Retrospective Studies
KW  - Exome Sequencing
KW  - tau Proteins: genetics
LB  - PUB:(DE-HGF)16
C2  - pmc:PMC8758482
C6  - pmid:34561610
DO  - DOI:10.1038/s41380-021-01271-2
UR  - https://pub.dzne.de/record/162928
ER  -