The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology
Bradley Boeve, Jessica Bove, Patrick Brannelly, Danielle Brushaber, Giovanni Coppola, Rielly Dever, Christina Dheel, Bradford Dickerson, Susan Dickinson, Kelley Faber, Julie Fields, Jamie Fong, Tatiana Foroud, Leah Forsberg, Ralitza Gavrilova, Debra Gearhart, Nupur Ghoshal, Jennifer Goldman, Jonathan Graff-Radford, Neill Graff-Radford, Murray Grossman, Dana Haley, Hilary Heuer, Ging-Yuek Robin Hsiung, Edward Huey, David Irwin, David Jones, Lynne Jones, Kejal Kantarci, Anna Karydas, David Knopman, John Kornak, Ruth Kraft, Joel Kramer, Walter Kremers, Walter Kukull, Maria Lapid, Diane Lucente, Ian Mackenzie, Masood Manoochehri, Scott McGinnis, Bruce Miller, Rodney Pearlman, Len Petrucelli, Madeline Potter, Rosa Rademakers, Eliana Marisa Ramos, Kate Rankin, Katya Rascovsky, Pheth Sengdy, Les Shaw, Jeremy Syrjanen, Nadine Tatton, Joanne Taylor, Arthur Toga, John Trojanowski, Sandra Weintraub, Bonnie Wong, Zbigniew Wszolek, Adam Boxer, Howard Rosen, LEFFTDS Consortium, Bradley Boeve, Jessica Bove, Patrick Brannelly, Danielle Brushaber, Giovanni Coppola, Rielly Dever, Christina Dheel, Bradford Dickerson, Susan Dickinson, Kelley Faber, Julie Fields, Jamie Fong, Tatiana Foroud, Leah Forsberg, Ralitza Gavrilova, Debra Gearhart, Nupur Ghoshal, Jennifer Goldman, Jonathan Graff-Radford, Neill Graff-Radford, Murray Grossman, Dana Haley, Hilary Heuer, Ging-Yuek Robin Hsiung, Edward Huey, David Irwin, David Jones, Lynne Jones, Kejal Kantarci, Anna Karydas, David Knopman, John Kornak, Ruth Kraft, Joel Kramer, Walter Kremers, Walter Kukull, Maria Lapid, Diane Lucente, Ian Mackenzie, Masood Manoochehri, Scott McGinnis, Bruce Miller, Rodney Pearlman, Len Petrucelli, Madeline Potter, Rosa Rademakers, Eliana Marisa Ramos, Kate Rankin, Katya Rascovsky, Pheth Sengdy, Les Shaw, Jeremy Syrjanen, Nadine Tatton, Joanne Taylor, Arthur Toga, John Trojanowski, Sandra Weintraub, Bonnie Wong, Zbigniew Wszolek, Adam Boxer, Howard Rosen, LEFFTDS Consortium
Abstract
Introduction: It is important to establish the natural history of familial frontotemporal lobar degeneration (f-FTLD) and provide clinical and biomarker data for planning these studies, particularly in the asymptomatic phase.
Methods: The Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects protocol was designed to enroll and follow at least 300 subjects for more than at least three annual visits who are members of kindreds with a mutation in one of the three most common f-FTLD genes-microtubule-associated protein tau, progranulin, or chromosome 9 open reading frame 72.
Results: We present the theoretical considerations of f-FTLD and the aims/objectives of this protocol. We also describe the design and methodology for evaluating and rating subjects, in which detailed clinical and neuropsychological assessments are performed, biofluid samples are collected, and magnetic resonance imaging scans are performed using a standard protocol.
Discussion: These data and samples, which are available to interested investigators worldwide, will facilitate planning for upcoming disease-modifying therapeutic trials in f-FTLD.
Keywords: C9orf72; Frontotemporal dementia; GRN; Genetics; MAPT; TDP-43; Tau.
© 2019 The Authors. Alzheimer's & Dementia published by Wiley Periodicals, Inc. on behalf of Alzheimer's Association.
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Source: PubMed