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  Clinico-genetic findings in 509 frontotemporal dementia patients

Wagner, M., Lorenz, G., Volk, A. E., Brunet, T., Edbauer, D., Berutti, R., et al. (2021). Clinico-genetic findings in 509 frontotemporal dementia patients. Molecular Psychiatry, 26(10), 5824-5832. doi:10.1038/s41380-021-01271-2.

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Item Permalink: https://hdl.handle.net/21.11116/0000-0009-7316-D Version Permalink: https://hdl.handle.net/21.11116/0000-000D-8922-2
Genre: Journal Article

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 Creators:
Wagner, Matias, Author
Lorenz, Georg, Author
Volk, Alexander E., Author
Brunet, Theresa, Author
Edbauer, Dieter, Author
Berutti, Riccardo, Author
Zhao, Chen, Author
Anderl-Straub, Sarah, Author
Bertram, Lars, Author
Danek, Adrian, Author
Deschauer, Marcus, Author
Dill, Veronika, Author
Fassbender, Klaus, Author
Fliessbach, Klaus, Author
Götze, Katharina S., Author
Jahn, Holger, Author
Kornhuber, Johannes, Author
Landwehrmeyer, Bernhard, Author
Lauer, Martin, Author
Obrig, Hellmuth1, Author           
Prudlo, Johannes, AuthorSchneider, Anja, AuthorSchroeter, Matthias L.1, Author           Uttner, Ingo, AuthorVukovich, Ruth, AuthorWiltfang, Jens, AuthorWinkler, Andrea S., AuthorZhou, Qihui, AuthorLudolph, Albert C., AuthorOexle, Konrad, AuthorOtto, Markus, AuthorDiehl-Schmid, Janine, AuthorWinkelmann, Juliane, Author more..
Affiliations:
1Department Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634549              

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 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.

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Language(s): eng - English
 Dates: 2021-07-092020-12-032021-08-192021-09-242021-10
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1038/s41380-021-01271-2
Other: epub 2021
PMID: 34561610
 Degree: -

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Funding organization : Munich Cluster of Systems Neurology (SyNergy)
Project name : -
Grant ID : UIDB/04501/2020
Funding program : Ilídio Pinho professorship
Funding organization : University of Aveiro, Portugal
Project name : -
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Funding program : -
Funding organization : German Federal Ministry of Education and Research (BMBF)
Project name : -
Grant ID : SFB1279
Funding program : -
Funding organization : German Research Foundation (DFG)
Project name : -
Grant ID : D.3830
Funding program : -
Funding organization : Baden-Württemberg
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Funding program : -
Funding organization : Thierry Latran Foundation
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Funding organization : ALS Association
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Funding program : -
Funding organization : Projekt DEAL

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Title: Molecular Psychiatry
Source Genre: Journal
 Creator(s):
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Publ. Info: Houndmills, Hampshire, UK : Stockton Press
Pages: - Volume / Issue: 26 (10) Sequence Number: - Start / End Page: 5824 - 5832 Identifier: ISSN: 1359-4184
CoNE: https://pure.mpg.de/cone/journals/resource/954925619131