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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. doi:10.1038/s41380-021-01271-2.

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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: 2021-07-092020-12-032021-08-192021-09-24
 Publication Status: Published online
 Pages: -
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 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1038/s41380-021-01271-2
Other: online ahead of print
PMID: 34561610
 Degree: -

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