Aniket Mishra, Raffaele Ferrari, Peter Heutink, John Hardy, Yolande Pijnenburg, Danielle Posthuma, on behalf of the International FTD-Genomics Consortium, R. Ferrari, D. G. Hernandez, M. A. Nalls, J. D. Rohrer, A. Ramasamy, J. B. J. Kwok, C. Dobson-Stone, P. R. Schofield, G. M. Halliday, J. R. Hodges, O. Piguet, L. Bartley, E. Thompson, E. Haan, I. Hernández, A. Ruiz, M. Boada, B. Borroni, A. Padovani, C. Cruchaga, N. J. Cairns, L. Benussi, G. Binetti, R. Ghidoni, G. Forloni, D. Albani, D. Galimberti, C. Fenoglio, M. Serpente, E. Scarpini, J. Clarimón, A. Lleó, R. Blesa, M. Landqvist Waldö, K. Nilsson, C. Nilsson, I. R. A. Mackenzie, G-Y. R. Hsiung, D. M. A. Mann, J. Grafman, C. M. Morris, J. Attems, T. D. Griffiths, I. G. McKeith, A. J. Thomas, P. Pietrini, E. D. Huey, E. M. Wassermann, A. Baborie, E. Jaros, M. C. Tierney, P. Pastor, C. Razquin, S. Ortega-Cubero, E. Alonso, R. Perneczky, J. Diehl-Schmid, P. Alexopoulos, A. Kurz, I. Rainero, E. Rubino, L. Pinessi, E. Rogaeva, P. St George-Hyslop, G. Rossi, F. Tagliavini, G. Giaccone, J. B. Rowe, J. C. M. Schlachetzki, J. Uphill, J. Collinge, S. Mead, A. Danek, V. M. Van Deerlin, M. Grossman, J. Q. Trojanowski, J. van der Zee, M. Cruts, C. Van Broeckhoven, S. F. Cappa, I. Leber, D. Hannequin, V. Golfier, M. Vercelletto, A. Brice, B. Nacmias, S. Sorbi, S. Bagnoli, I. Piaceri, J. E. Nielsen, L. E. Hjermind, M. Riemenschneider, M. Mayhaus, B. Ibach, G. Gasparoni, S. Pichler, W. Gu, M. N. Rossor, N. C. Fox, J. D. Warren, M. G. Spillantini, H. R. Morris, P. Rizzu, P. Heutink, J. S. Snowden, S. Rollinson, A. Richardson, A. Gerhard, A. C. Bruni, R. Maletta, F. Frangipane, C. Cupidi, L. Bernardi, M. Anfossi, M. Gallo, M. E. Conidi, N. Smirne, R. Rademakers, M. Baker, D. W. Dickson, N. R. Graff-Radford, R. C. Petersen, D. Knopman, K. A. Josephs, B. F. Boeve, J. E. Parisi, W. W. Seeley, B. L. Miller, A. M. Karydas, H. Rosen, J. C. van Swieten, E. G. P. Dopper, H. Seelaar, Y. A. L. Pijnenburg, P. Scheltens, G. Logroscino, R. Capozzo, V. Novelli, A. A. Puca, M. Franceschi, A. Postiglione, G. Milan, P. Sorrentino, M. Kristiansen, H-H. Chiang, C. Graff, F. Pasquier, A. Rollin, V. Deramecourt, T. Lebouvier, D. Kapogiannis, L. Ferrucci, S. Pickering-Brown, A. B. Singleton, J. Hardy, P. Momeni
Abstract
Genome-wide association studies in frontotemporal dementia showed limited success in identifying associated loci. This is possibly due to small sample size, allelic heterogeneity, small effect sizes of single genetic variants, and the necessity to statistically correct for testing millions of genetic variants. To overcome these issues, we performed gene-based association studies on 3348 clinically identified frontotemporal dementia cases and 9390 controls (discovery, replication and joint-cohort analyses). We report association of APOE and TOMM40 with behavioural variant frontotemporal dementia, and ARHGAP35 and SERPINA1 with progressive non-fluent aphasia. Further, we found the ɛ2 and ɛ4 alleles of APOE harbouring protective and risk increasing effects, respectively, in clinical subtypes of frontotemporal dementia against neurologically normal controls. The APOE-locus association with behavioural variant frontotemporal dementia indicates its potential risk-increasing role across different neurodegenerative diseases, whereas the novel genetic associations of ARHGAP35 and SERPINA1 with progressive non-fluent aphasia point towards a potential role of the stress-signalling pathway in its pathophysiology.
This research output has an Altmetric Attention Score of 31. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 24 March 2025.
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#1,603,351
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#1,534
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#23,905
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#18
of 87 outputs
Altmetric has tracked 34,167,806 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 95th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
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