Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort
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Introduction: Behavioral variant frontotemporal dementia (bvFTD) may present sporadically or due to an autosomal dominant mutation. Characterization of both forms will improve understanding of the generalizability of assessments and treatments. Methods: A total of 135 sporadic (s‐bvFTD; mean age 63.3 years; 34% female) and 99 familial (f‐bvFTD; mean age 59.9; 48% female) bvFTD participants were identified. f‐bvFTD cases included 43 with known or presumed chromosome 9 open reading frame 72 (C9orf72) gene expansions, 28 with known or presumed microtubule‐associated protein tau (MAPT) mutations, 14 with known progranulin (GRN) mutations, and 14 with a strong family history of FTD but no identified mutation. Results: Participants with f‐bvFTD were younger and had earlier age at onset. s‐bvFTD had higher total Neuropsychiatric Inventory Questionnaire (NPI‐Q) scores due to more frequent endorsement of depression and irritability. Discussion: f‐bvFTD and s‐bvFTD cases are clinically similar, suggesting the generalizability of novel biomarkers, therapies, and clinical tools developed in either form to the other.
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The ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration Consortium involves 23 sites in North America and has evaluated over 1500 participants so far.
“ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration Consortium, which involves 23 sites in North America and has evaluated over 1500 participants so far.2,65,94”
From Advances and controversies in frontotemporal dementia: diagnosis, biomarkers, and therapeutic considerations (2022) · cites this paper as [2]
The Methods describe ARTFL/LEFFTDS evaluations at eighteen North American sites, not 23; the Introduction describes the study cohort as evaluated at sixteen sites. The paper identifies the consortia, but the passages found do not report that they had evaluated over 1,500 participants. (LLM, conf=0.86)
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Experimental — accuracy not yet measuredSocial cognition complements the assessment of behavioural features during clinical interview or via informant report, since behavioural features can be influenced both by the person's insight and the availability and knowledge of an informant.
“Social cognition complements the assessment of behavioural features (ie, apathy, disinhibition, stereo typical behaviours, and changes in eating behaviour) during clinical interview 2 or via informant report, since behavioural features can be influenced both by the person's insight and the availability and knowledge of an informant.”
From Advances and controversies in frontotemporal dementia: diagnosis, biomarkers, and therapeutic considerations (2022) · cites this paper as [2]
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Self-citationPsychotropic medication usage in sporadic versus genetic behavioral‐variant frontotemporal dementia
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Self-citationAdditional file 1 of Diagnostic accuracy of research criteria for prodromal frontotemporal dementia
Benussi, A., Premi, E., Grassi, M., Alberici, A., Cantoni, V., Gazzina, S., Archetti, S., Gasparotti, R., Fumagalli, G., Bouzigues, A., et al. (2024) · Figshare · doi:10.6084/m9.figshare.24993750
Self-citation
- Authors
- Heuer, H. W., Wang, P., Rascovsky, K., Wolf, A., Appleby, B., Bove, J., Bordelon, Y., Brannelly, P., Brushaber, D. E., Caso, C., Coppola, G., Dickerson, B., Dickinson, S., Domoto‐Reilly, K., Faber, K., Ferrall, J., Fields, J., Fishman, A., Fong, J., Foroud, T., Forsberg, L. K., Gearhart, D., Ghazanfari, B., Ghoshal, N., Goldman, J., Graff‐Radford, J., Graff‐Radford, N., Grant, I., Grossman, M., Haley, D., Hsiung, G. ‐., Huey, E., Irwin, D., Jones, D., Kantarci, K., Karydas, A., Kaufer, D., Kerwin, D., Knopman, D., Kornak, J., Kramer, J. H., Kraft, R., Kremers, W. K., Kukull, W., Litvan, I., Ljubenkov, P., Mackenzie, I. R., Maldonado, M., Manoochehri, M., McGinnis, S., McKinley, E., Mendez, M. F., Miller, B. L., Onyike, C., Pantelyat, A., Pearlman, R., Petrucelli, L., Potter, M., Rademakers, R., Ramos, E. M., Rankin, K. P., Roberson, E. D., Rogalski, E., Sengdy, P., Shaw, L., Syrjanen, J., Tartaglia, M. C., Tatton, N., Taylor, J., Toga, A., Trojanowski, J., Weintraub, S., Wong, B., Wszolek, Z., Boeve, B. F., Rosen, H. J., Boxer, A. L., & consortia, O. B. O. T. A. A. L.
- Affiliations
- University of California, San Francisco (US)
- University of Pennsylvania (US)
- Case Western Reserve University (US)
- University of California, Los Angeles (US)
- Rainwater Charitable Foundation (US)
- Mayo Clinic (US)
- University of Washington (US)
- Harvard University (US)
- Association for Frontotemporal Degeneration (US)
- Indiana University Indianapolis (US)
- University of North Carolina at Chapel Hill (US)
- Johns Hopkins University (US)
- University of Toronto (CA)
- Washington University in St. Louis (US)
- Columbia University (US)
- Mayo Clinic in Florida (US)
- Northwestern University (US)
- University of British Columbia (CA)
- The University of Texas Southwestern Medical Center (US)
- University of California San Diego (US)
- University of Alabama at Birmingham (US)
- Bluefield Project San Francisco California
- University of Southern California (US)
- Northwestern University Chicago Illinois
- Mayo Clinic Jacksonville Florida
- Corresponding author
- Heuer, Hilary W.
- ORCID
- Heuer, Hilary W.
- Appleby, B.
- Bordelon, Y.
- Brannelly, P.
- Brushaber, D.E.
- Coppola, G.
- Dickerson, B.
- Domoto‐Reilly, K.
- Faber, K.
- Fields, J.
- Fong, J.
- Foroud, T.
- Forsberg, L.K.
- Ghoshal, N.
- Goldman, J.
- Graff‐Radford, J.
- Graff‐Radford, N.
- Grant, I.
- Grossman, M.
- Haley, D.
- Hsiung, G.‐Y.
- Huey, E.
- Irwin, D.
- Jones, D.
- Kantarci, K.
- Kaufer, D.
- Kerwin, D.
- Knopman, D.
- Kornak, J.
- Kramer, J.H.
- Kremers, W.K.
- Kukull, W.
- Litvan, I.
- Ljubenkov, P.
- Mackenzie, I.R.
- Manoochehri, M.
- McKinley, E.
- Mendez, M.F.
- Miller, B.L.
- Onyike, C.
- Pantelyat, A.
- Pearlman, R.
- Petrucelli, L.
- Rademakers, R.
- Ramos, E.M.
- Rankin, K.P.
- Roberson, E.D.
- Rogalski, E.
- Shaw, L.
- Syrjanen, J.
- Tartaglia, M.C.
- Tatton, N.
- Toga, A.
- Trojanowski, J.
- Wong, B.
- Boeve, B.F.
- Rosen, H.J.
- Boxer, A.L.
- Venue
- Alzheimer's & Dementia
- Publisher
- Wiley
- Published
- 2020-01
- Volume
- 16
- Issue
- 1
- Pages
- 60-70
- ISSN
- 1552-5260 (ISSN-L)
- 1552-5279
- PMC
- PMC7192555
- OpenAlex
- W2999348544
- Cited by
- 43
- References
- 32
- Citations by year
- 2025: 12 · 2024: 6 · 2023: 4 · 2022: 6 · 2021: 13 · 2020: 2
- FWCI
- 4.56
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Alzheimer s & Dementia (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health (U01 AG045390, U54 NS092089, U24 AG021886, U01 AG016976)
- 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
- MeSH terms
- C9orf72 Protein, Progranulins, Age Factors, Aged, Brain, Female, Humans, Male, Middle Aged, Mutation, Neuropsychological Tests, North America, tau Proteins, Genetic Predisposition to Disease, Frontotemporal Dementia
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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