Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia

J. M. Poos*, L. C. Jiskoot, S. M.J. Leijdesdorff, H. Seelaar, J. L. Panman, E. L. van der Ende, M. O. Mol, L. H.H. Meeter, Y. A.L. Pijnenburg, L. Donker Kaat, F. J. de Jong, J. C. van Swieten, J. M. Papma, E. van den Berg

*Corresponding author for this work

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Introduction: Trials to test disease-modifying treatments for frontotemporal dementia are eagerly awaited and sensitive instruments to assess potential treatment effects are increasingly urgent, yet lacking thus far. We aimed to identify gene-specific instruments assessing clinical onset and disease progression by comparing cognitive functioning between bvFTD patients across genetic mutations. Methods: We examined differences in 7 cognitive domains between bvFTD patients with GRN (n = 20), MAPT (n = 29) or C9orf72 (n = 31) mutations, and non-carriers (n = 24), and described longitudinal (M = 22.6 months, SD = 16.6) data in a subsample (n = 27). Results: Patients showed overall cognitive impairment, except memory recall, working memory and visuoconstruction. GRN patients performed lower on executive function (mean difference − 2.1; 95%CI − 4.1 to − 0.5) compared to MAPT and lower on attention compared to MAPT (mean difference − 2.5; 95%CI − 4.7 to − 0.3) and C9orf72 (mean difference − 2.4; 95%CI − 4.5 to − 0.3). Only MAPT patients were impaired on delayed recall (mean difference − 1.4; 95%CI − 2.1 to − 0.7). GRN patients declined rapidly on attention and memory, MAPT declined in confrontation naming, whereas C9orf72 patients were globally impaired but remained relatively stable over time on all cognitive domains. Discussion: This study shows gene-specific cognitive profiles in bvFTD, which underlines the value of neuropsychological tests as outcome measures in upcoming trials for genetic bvFTD.

Original languageEnglish
Pages (from-to)1603-1612
Number of pages10
JournalJournal of Neurology
Issue number6
Publication statusPublished - Jun 2020

Bibliographical note

Funding Information:
This work was supported by the Dioraphte Foundation (grant numbers 09-02-03-00); the Association for Frontotemporal Dementias Research Grant 2009; The Netherlands Organization for Scientific Research (NWO) grant HCMI (grant number 056-13-018); ZonMw Memorabel (Deltaplan Dementie, (project numbers 733 051 042 and 733 050 813); JPND PreFrontAls consortium project number 733051042; and Alzheimer Nederland and the Bluefield project. Acknowledgements

Publisher Copyright: © 2020, The Author(s).


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