Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort

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...

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Bibliographic Details
Published in:Alzheimer's & dementia 2020-01, Vol.16 (1), p.60-70
Main Authors: Heuer, Hilary 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.‐Y., 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.
Format: Article
Language:English
Subjects:
Age Factors
Aged
Brain - pathology
bvFTD
C9orf72
C9orf72 Protein - genetics
clinical trials
Female
frontotemporal dementia
Frontotemporal Dementia - classification
Frontotemporal Dementia - genetics
Genetic Predisposition to Disease
genetics
GRN
Humans
Male
MAPT
Middle Aged
Mutation - genetics
Neuropsychological Tests - statistics & numerical data
North America
Progranulins - genetics
tau Proteins - genetics
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Summary: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.
ISSN:1552-5260
1552-5279
DOI:10.1002/alz.12046