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2 results on '"Domoto-Reilly K"'

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

Author

Heuer, Hilary W, Wang, P, Rascovsky, K, Wolf, A, Appleby, B, Bove, J, Bordelon, Y, Brannelly, P, Brushaber, DE, Caso, C, Coppola, G, Dickerson, B, Dickinson, S, Domoto-Reilly, K, Faber, K, Ferrall, J, Fields, J, Fishman, A, Fong, J, Foroud, T, Forsberg, LK, 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, JH, Kraft, R, Kremers, WK, Kukull, W, Litvan, I, Ljubenkov, P, Mackenzie, IR, Maldonado, M, Manoochehri, M, McGinnis, S, McKinley, E, Mendez, MF, Miller, BL, Onyike, C, Pantelyat, A, Pearlman, R, Petrucelli, L, Potter, M, Rademakers, R, Ramos, EM, Rankin, KP, Roberson, ED, Rogalski, E, Sengdy, P, Shaw, L, Syrjanen, J, Tartaglia, MC, Tatton, N, Taylor, J, Toga, A, Trojanowski, J, Weintraub, S, Wong, B, Wszolek, Z, Boeve, BF, Rosen, HJ, Boxer, AL, and ARTFL and LEFFTDS consortia

Subjects
Male, Aging, Clinical Sciences, tau Proteins, Neuropsychological Tests, Neurodegenerative, frontotemporal dementia, Progranulins, Rare Diseases, Clinical Research, C9orf72, Behavioral and Social Science, ARTFL and LEFFTDS consortia, MAPT, Acquired Cognitive Impairment, Genetics, Humans, Genetic Predisposition to Disease, Alzheimer's Disease Related Dementias (ADRD), Aged, clinical trials, C9orf72 Protein, Age Factors, Neurosciences, Brain, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Middle Aged, Brain Disorders, bvFTD, Frontotemporal Dementia (FTD), Geriatrics, Mutation, North America, Neurological, Female, Dementia, GRN
Abstract

IntroductionBehavioral 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.MethodsA 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.ResultsParticipants 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.Discussionf-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.

Published
2020

2. Active lifestyles moderate clinical outcomes in autosomal dominant frontotemporal degeneration

Author

Casaletto, KB, Staffaroni, AM, Wolf, A, Appleby, B, Brushaber, D, Coppola, G, Dickerson, B, Domoto-Reilly, K, Elahi, FM, Fields, J, Fong, JC, Forsberg, L, Ghoshal, N, Graff-Radford, N, Grossman, M, Heuer, HW, Hsiung, G-Y, Huey, ED, Irwin, D, Kantarci, K, Kaufer, D, Kerwin, D, Knopman, D, Kornak, J, Kramer, JH, Litvan, I, Mackenzie, IR, Mendez, M, Miller, B, Rademakers, R, Ramos, EM, Rascovsky, K, Roberson, ED, Syrjanen, JA, Tartaglia, MC, Weintraub, S, Boeve, B, Boxer, AL, Rosen, H, Yaffe, K, and ARTFL/LEFFTDS Study

Subjects
Male, Aging, Clinical Sciences, physical activity, Neuropsychological Tests, Neurodegenerative, Alzheimer's Disease, frontotemporal dementia, Basic Behavioral and Social Science, Cognition, Leisure Activities, Rare Diseases, Clinical Research, Behavioral and Social Science, Acquired Cognitive Impairment, Humans, Longitudinal Studies, Exercise, Alzheimer's Disease Related Dementias (ADRD), Aged, Prevention, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Middle Aged, cognitive activity, cognitive reserve, Magnetic Resonance Imaging, ARTFL/LEFFTDS Study, Brain Disorders, Frontotemporal Dementia (FTD), Geriatrics, Neurological, Biomedical Imaging, Female, Dementia, Atrophy, Frontotemporal Lobar Degeneration
Abstract

IntroductionLeisure activities impact brain aging and may be prevention targets. We characterized how physical and cognitive activities relate to brain health for the first time in autosomal dominant frontotemporal lobar degeneration (FTLD).MethodsA total of 105 mutation carriers (C9orf72/MAPT/GRN) and 69 non-carriers reported current physical and cognitive activities at baseline, and completed longitudinal neurobehavioral assessments and brain magnetic resonance imaging (MRI) scans.ResultsGreater physical and cognitive activities were each associated with an estimated >55% slower clinical decline per year among dominant gene carriers. There was also an interaction between leisure activities and frontotemporal atrophy on cognition in mutation carriers. High-activity carriers with frontotemporal atrophy (-1 standard deviation/year) demonstrated >two-fold better cognitive performances per year compared to their less active peers with comparable atrophy rates.DiscussionActive lifestyles were associated with less functional decline and moderated brain-to-behavior relationships longitudinally. More active carriers "outperformed" brain volume, commensurate with a cognitive reserve hypothesis. Lifestyle may confer clinical resilience, even in autosomal dominant FTLD.

Published
2020

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