Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort
Hilary W. Heuer, P. Wang, Katya Rascovsky, Alon Wolf, Brian S. Appleby, Jessica Bove, Yvette Bordelon, Patrick Brannelly, Danielle Brushaber, Christine Caso, Giovanni Coppola, Brad C. Dickerson, Susan Dickinson, Kimiko Domoto‐Reilly, Kelley Faber, Jessica Ferrall, Julie A. Fields, Ann Fishman, Jamie Fong, Tatiana Foroud, Leah K. Forsberg, Debra Gearhart, Behnaz Ghazanfari, Nupur Ghoshal, Jill Goldman, Jonathan Graff‐Radford, N. R. Graff-Radford, Ian Grant, Murray Grossman, Dana Haley, Ging‐Yuek Robin Hsiung, Edward D. Huey, David J. Irwin, David T. Jones, Kejal Kantarci, Anna Karydas, Daniel Kaufer, Diana Kerwin, David S. Knopman, John Kornak, Joel H. Kramer, Ruth Kraft, Walter K. Kremers, Walter A. Kukull, Irene Litvan, Peter A. Ljubenkov, Ian R. Mackenzie, Miranda Maldonado, Masood Manoochehri, Scott McGinnis, Emily McKinley, Mario F. Mendez, Bruce L. Miller, Chiadi U. Onyike, Alexander Pantelyat, Rodney Pearlman, Leonard Petrucelli, Murray Potter, Rosa Rademakers, Eliana Marisa Ramos, Katherine P. Rankin, Erik D. Roberson, Emily Rogalskı, Pheth Sengdy, Leslie M. Shaw, Jeremy A. Syrjanen, Maria Carmela Tartaglia, Nadine Tatton, Joanne Taylor, Arthur W. Toga, John Q. Trojanowski, Sandra Weıntraub, Bonnie Wong, Zbigniew K. Wszołek, Bradley F. Boeve, Howard J. Rosen, Adam L. Boxer, on behalf of the ARTFL and LEFFTDS consortia
Abstract
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.