Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia
Open accessAbstract
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.
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For genetic bvFTD, mutation-specific cognitive profiles and trajectories have been identified: characterized decline of confrontational naming, episodic and semantic memory in MAPT carriers, variable deficits with frequent executive dysfunction in GRN carriers, and a global and relatively stable profile in C9ORF72 carriers.
“For genetic bvFTD, mutation-specific cognitive profiles and trajectories have been identified: characterized decline of confrontational naming, episodic and semantic memory in MAPT carriers, variable deficits (with frequent executive dysfunction) in GRN carriers, and a global and relatively stable profile (e.g., mildly slowed processing speed) in C9ORF72 carriers (Poos et al., 2020; Barker et al.,”
From The pursuit for markers of disease progression in behavioral variant frontotemporal dementia: a scoping review to optimize outcome measures for clinical trials (2024) · cites this paper as Poos et al., 2020
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Cites
Statistical Power Analysis for the Behavioral Sciences
Muller, K. E., & Cohen, J. (1989) · Technometrics · doi:10.2307/1270020 · Cited by 99,588 · see citing works
Folstein, M. F., Folstein, S. E., & McHugh, P. R. (1975) · Journal of Psychiatric Research · doi:10.1016/0022-3956(75)90026-6 · Cited by 88,282 · see citing works
Statistical power analysis for the behavioral sciences
Cohen, J. (1990) · Computers Environment and Urban Systems · doi:10.1016/0198-9715(90)90050-4 · Cited by 65,406 · see citing works
Studies of interference in serial verbal reactions
Stroop, J. R. (1935) · Journal of Experimental Psychology · doi:10.1037/h0054651 · Cited by 18,622 · see citing works
The processing-speed theory of adult age differences in cognition
Salthouse, T. A. (1996) · Psychological Review · doi:10.1037/0033-295x.103.3.403 · Cited by 5,568 · see citing works
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia
Rascovsky, K., Hodges, J. R., Knopman, D., Mendez, M. F., Kramer, J. H., Neuhaus, J., van Swieten, J. C., Seelaar, H., Dopper, E. G. P., Onyike, C. U., et al. (2011) · Brain · doi:10.1093/brain/awr179 · Cited by 5,221 · see citing works
Self-citationKaplan, E., Goodglass, H., Weıntraub, S., & Segal, O. (2001) · Medical Entomology and Zoology · Cited by 4,378 · see citing works
The FAB: A frontal assessment battery at bedside
Dubois, B., Slachevsky, A., Litvan, I., & Pillon, B. (2000) · Neurology · doi:10.1212/wnl.55.11.1621 · Cited by 3,913 · see citing works
The Medial Temporal Lobe Memory System
Squire, L. R., & Zola-Morgan, S. (1991) · Science · doi:10.1126/science.1896849 · Cited by 3,282 · see citing works
A Modified Card Sorting Test Sensitive to Frontal Lobe Defects
Nelson, H. E. (1976) · Cortex · doi:10.1016/s0010-9452(76)80035-4 · Cited by 2,454 · see citing works
Qualitative Assessment of Verbal Fluency Performance in Frontotemporal Dementia
van den Berg, E., Jiskoot, L. C., Grosveld, M. J. H., Swieten, J. C. V., & Papma, J. M. (2017) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000477538 · Cited by 2,061 · see citing works
Self-citationCLOX: an executive clock drawing task
Royall, D. R., Cordes, J. A., & Polk, M. J. (1998) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.64.5.588 · Cited by 839 · see citing works
der Elst, W. V., van Boxtel, M. P. J., van Breukelen, G., & Jolles, J. (2005) · Journal of the International Neuropsychological Society · doi:10.1017/s1355617705050344 · Cited by 710 · see citing works
Clinical, genetic and pathological heterogeneity of frontotemporal dementia: A review
Seelaar, H., Rohrer, J. D., Pijnenburg, Y. A. L., Fox, N. C., & van Swieten, J. C. (2011) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.2010.212225 · Cited by 609 · see citing works
Self-citationLanguage processing is strongly left lateralized in both sexes: Evidence from functional MRI
Frost, J. A. (1999) · Brain · doi:10.1093/brain/122.2.199 · Cited by 537 · see citing works
Verbal Fluency: Language or Executive Function Measure?
Whiteside, D. M., Kealey, T., Semla, M., Luu, H., Rice, L., Basso, M. R., & Roper, B. (2016) · Applied Neuropsychology: Adult · doi:10.1080/23279095.2015.1004574 · Cited by 430 · see citing works
Visual association test to detect early dementia of the Alzheimer type
Lindeboom, J. (2002) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.73.2.126 · Cited by 359 · see citing works
Ber, I. L., Camuzat, A., Hannequin, D., Pasquier, F., Guedj, É., Rovelet‐Lecrux, A., Hahn‐Barma, V., van der Zee, J., Clot, F., Bakchine, S., et al. (2008) · Brain · doi:10.1093/brain/awn012 · Cited by 348 · see citing works
Zakzanis, K. K. (2001) · Archives of Clinical Neuropsychology · doi:10.1093/arclin/16.7.653 · Cited by 346 · see citing works
Rohrer, J. D., Ridgway, G. R., Marc Modat, A., Sebastien Ourselin, A., Mead, S., Fox, N. C., Rossor, M. N., & Warren, J. D. (2010) · NeuroImage · doi:10.1016/j.neuroimage.2009.12.088 · Cited by 235 · see citing works
Beck, J. A., Rohrer, J. D., Campbell, T., Isaacs, A. M., Morrison, K. E., Goodall, G., Warrington, E. K., Stevens, J., Révész, T., Holton, J. L., et al. (2008) · Brain · doi:10.1093/brain/awm320 · Cited by 226 · see citing works
Lashley, T., Rohrer, J. D., Mead, S., & Révész, T. (2015) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12250 · Cited by 217 · see citing works
Phenotypic signatures of genetic frontotemporal dementia
Rohrer, J. D., & Warren, J. D. (2011) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32834cd442 · Cited by 210 · see citing works
How preserved is episodic memory in behavioral variant frontotemporal dementia?
Hornberger, M., Piguet, O., Graham, A. J., Nestor, P. J., & Hodges, J. R. (2010) · Neurology · doi:10.1212/wnl.0b013e3181cef85d · Cited by 202 · see citing works
Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia
Dopper, E. G. P., Rombouts, S. A. R. B., Jiskoot, L. C., den Heijer, T., de Graaf, J. R. A., de Koning, I., Hammerschlag, A. R., Seelaar, H., Seeley, W. W., Veer, I. M., et al. (2013) · Neurology · doi:10.1212/wnl.0b013e31828407bc · Cited by 197 · see citing works
Self-citationPickering-Brown, S. M., Rollinson, S. J., du Plessis, D., Morrison, K. E., Varma, A. R., Richardson, A. M. T., Neary, D., Snowden, J. S., & Mann, D. M. A. (2008) · Brain · doi:10.1093/brain/awm331 · Cited by 196 · see citing works
Khan, B. K., Yokoyama, J. S., Takada, L. T., Sha, S. J., Rutherford, N. J., Fong, J. C., Karydas, A. M., Wu, T., Ketelle, R. S., Baker, M. C., et al. (2012) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp-2011-301883 · Cited by 185 · see citing works
Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers
Lee, S. E., Sias, A. C., Mandelli, M. L., Brown, J. A., Brown, A. B., Khazenzon, A. M., Vidovszky, A. A., Zanto, T. P., Karydas, A. M., Pribadi, M., et al. (2017) · NeuroImage: Clinical · doi:10.1016/j.nicl.2016.12.006 · Cited by 165 · see citing works
Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia
Dopper, E. G. P., Rombouts, S. A. R. B., Jiskoot, L. C., den Heijer, T., de Graaf, J. R. A., de Koning, I., Hammerschlag, A. R., Seelaar, H., Seeley, W. W., Veer, I. M., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000000583 · Cited by 152 · see citing works
Self-citationMahoney, C. J., Downey, L. E., Ridgway, G. R., Beck, J., Clegg, S., Blair, M., Finnegan, S., Leung, K. K., Yeatman, T., Golden, H., et al. (2012) · Alzheimer's Research & Therapy · doi:10.1186/alzrt144 · Cited by 114 · see citing works
Snowden, J. S., Adams, J., Harris, J., Thompson, J. C., Rollinson, S. J., Richardson, A. M. T., Jones, M. S., Neary, D., Mann, D. M. A., & Pickering-Brown, S. M. (2015) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.3109/21678421.2015.1074700 · Cited by 111 · see citing works
Jiskoot, L. C., Panman, J. L., Meeter, L. H. H., Dopper, E. G. P., Kaat, L. D., Franzen, S., van der Ende, E. L., van Minkelen, R., Rombouts, S. A. R. B., Papma, J. M., et al. (2018) · Brain · doi:10.1093/brain/awy288 · Cited by 93 · see citing works
Self-citationLangenhove, T. V., van der Zee, J., Gijselinck, I., Engelborghs, S., Vandenberghe, R. R., Vandenbulcke, M., Bleecker, J. D., Sieben, A., Versijpt, J. J., Ivanoiu, A., et al. (2013) · JAMA Neurology · doi:10.1001/2013.jamaneurol.181 · Cited by 92 · see citing works
White matter hyperintensities are seen only in GRN mutation carriers in the GENFI cohort
Sudre, C. H., Bocchetta, M., Cash, D. M., Thomas, D. L., Woollacott, I., Dick, K. M., Swieten, J. C. V., Borroni, B., Galimberti, D., Masellis, M., et al. (2017) · NeuroImage Clinical · doi:10.1016/j.nicl.2017.04.015 · Cited by 77 · see citing works
Self-citationBoeve, B. F. (2007) · Alzheimer Disease & Associated Disorders · doi:10.1097/wad.0b013e31815bf454 · Cited by 73 · see citing works
Arighi, A., Fumagalli, G., Jacini, F., Fenoglio, C., Ghezzi, L., Pietroboni, A. M., Riz, M. A. D., Serpente, M., Ridolfi, E., Bonsi, R., et al. (2012) · Journal of Alzheimer s Disease · doi:10.3233/jad-2012-120523 · Cited by 71 · see citing works
Longitudinal cognitive biomarkers predicting symptom onset in presymptomatic frontotemporal dementia
Jiskoot, L. C., Panman, J. L., van Asseldonk, L., Franzen, S., Meeter, L. H. H., Kaat, L. D., van der Ende, E. L., Dopper, E. G. P., Timman, R., van Minkelen, R., et al. (2018) · Journal of Neurology · doi:10.1007/s00415-018-8850-7 · Cited by 68 · see citing works
Self-citationPresymptomatic cognitive decline in familial frontotemporal dementia
Jiskoot, L. C., Dopper, E. G. P., den Heijer, T., Timman, R., van Minkelen, R., Swieten, J. C. V., & Papma, J. M. (2016) · Neurology · doi:10.1212/wnl.0000000000002895 · Cited by 51 · see citing works
Self-citationHobson, V. L., Hall, J. R., Harvey, M. B., et al. (2010) · International Journal of Geriatric Psychiatry · doi:10.1002/gps.2533 · Cited by 27 · see citing works
Balthazar, M. L. F., Yasuda, C. L., Pereira, F., Bergo, F. P. G., Cendes, F., & Damasceno, B. P. (2010) · Journal of the International Neuropsychological Society · doi:10.1017/s1355617710000998 · Cited by 17 · see citing works
Grobler, & Tj, K. (1988) · PubMed · Cited by 11 · see citing works
[Size distribution of plasma lipoproteins].
Vt, L., Shmelev, G. E., Noskin, V. A., et al. (1987) · PubMed · Cited by 4 · see citing works
Solano (2000) · doi:10.1002/1531-8249(200002)47:2 · Cited by 3 · see citing works
[Alveolar clearance dysfunction caused by air pollutants (study with DTPA-Tc99m)].
Carratù, L., Sofia, M., Molino, A., et al. (1994) · PubMed · Cited by 1 · see citing works
[The use of flame photometry in studying the activity of ointments].
Vm, G. (1968) · PubMed · Cited by 1 · see citing works
Gromadzińska, J., Wąsowicz, W., & Skłodowska, M. (1988) · PubMed · Cited by 1 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- [39]Wechsler D (2012) Wechsler adult intelligence scale – fourth edition – nederlandse Bbwerking. Technische Handleiding. Amsterdam, Pearson
Cited by
Sorted by citations
Recognition memory and divergent cognitive profiles in prodromal genetic frontotemporal dementia
Barker, M. S., Manoochehri, M., Rizer, S. J., Appleby, B. S., Brushaber, D., Dev, S. I., Devick, K. L., Dickerson, B. C., Fields, J. A., Foroud, T. M., et al. (2021) · Cortex · doi:10.1016/j.cortex.2021.03.006 · Cited by 29 · see citing works
Fieldhouse, J. L. P., van Paassen, D. N., van Engelen, M.-P. E., De Boer, S. C. M., Hartog, W. L., Braak, S., Schoonmade, L. J., Schouws, S. N. T. M., Krudop, W. A., Oudega, M. L., et al. (2024) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2024.1382593 · Cited by 8 · see citing works
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- Authors
- Poos, J. M., Jiskoot, L. C., Leijdesdorff, S. M. J., Seelaar, H., Panman, J. L., van der Ende, E. L., Mol, M. O., Meeter, L. H. H., Pijnenburg, Y. A. L., Donker Kaat, L., de Jong, F. J., van Swieten, J. C., Papma, J. M., & van den Berg, E.
- Affiliations
- Leiden University Medical Center (NL)
- Erasmus MC (NL)
- Maastricht University (NL)
- Amsterdam Neuroscience (NL)
- Corresponding author
- Poos, J. M.
- ORCID
- Venue
- Journal of Neurology
- Published
- 2020-02-12
- Volume
- 267
- Issue
- 6
- Pages
- 1603-1612
- ISSN
- 0012-1037 (ISSN-L)
- 0340-5354
- 1432-1459
- PMC
- PMC7293665
- OpenAlex
- W3005780323
- Cited by
- 31
- References
- 47
- Citations by year
- 2026: 3 · 2025: 6 · 2024: 4 · 2023: 4 · 2022: 6 · 2021: 6 · 2020: 2
- FWCI
- 3.28
- Type
- journal article
- Language
- en
- Update notices
- correction (2020-03-26)
- Open access
- hybrid
- doi.org
- Locations
- Journal of Neurology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion, cc-by)
- Pure Amsterdam UMC (publishedVersion, cc-by)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion, cc-by)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (submittedVersion, other-oa)
- Research Publications (Maastricht University) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Funders
- Stichting Dioraphte (09-02-03-00)
- Association for Frontotemporal Degeneration (2009)
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (056-13-018)
- ZonMw Memorabel (733 051 042, 733 050 813)
- EU Joint Programme – Neurodegenerative Disease Research (733 051 042)
- Alzheimer Nederland
- Bluefield Project
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- behavioral variant frontotemporal dementia, GRN mutations, MAPT mutations, C9orf72 mutation, executive function, attention, memory impairment, confrontation naming, disease progression, disease-modifying therapy
- MeSH terms
- C9orf72 Protein, Aged, Attention, Female, Humans, Longitudinal Studies, Male, Memory, Short-Term, Middle Aged, Neuropsychological Tests, Psychomotor Performance, Mental Recall, tau Proteins, Executive Function, Frontotemporal Dementia
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