作者
Katrina M Moore, Jennifer Nicholas, Murray Grossman, Corey T McMillan, David J Irwin, Lauren Massimo, Vivianna M Van Deerlin, Jason D Warren, Nick C Fox, Martin N Rossor, Simon Mead, Martina Bocchetta, Bradley F Boeve, David S Knopman, Neill R Graff-Radford, Leah K Forsberg, Rosa Rademakers, Zbigniew K Wszolek, John C van Swieten, Lize C Jiskoot, Lieke H Meeter, Elise GP Dopper, Janne M Papma, Julie S Snowden, Jennifer Saxon, Matthew Jones, Stuart Pickering-Brown, Isabelle Le Ber, Agnès Camuzat, Alexis Brice, Paola Caroppo, Roberta Ghidoni, Michela Pievani, Luisa Benussi, Giuliano Binetti, Bradford C Dickerson, Diane Lucente, Samantha Krivensky, Caroline Graff, Linn Öijerstedt, Marie Fallström, Håkan Thonberg, Nupur Ghoshal, John C Morris, Barbara Borroni, Alberto Benussi, Alessandro Padovani, Daniela Galimberti, Elio Scarpini, Giorgio G Fumagalli, Ian R Mackenzie, Ging-Yuek R Hsiung, Pheth Sengdy, Adam L Boxer, Howie Rosen, Joanne B Taylor, Matthis Synofzik, Carlo Wilke, Patricia Sulzer, John R Hodges, Glenda Halliday, John Kwok, Raquel Sanchez-Valle, Albert Lladó, Sergi Borrego-Ecija, Isabel Santana, Maria Rosário Almeida, Miguel Tábuas-Pereira, Fermin Moreno, Myriam Barandiaran, Begoña Indakoetxea, Johannes Levin, Adrian Danek, James B Rowe, Thomas E Cope, Markus Otto, Sarah Anderl-Straub, Alexandre de Mendonça, Carolina Maruta, Mario Masellis, Sandra E Black, Philippe Couratier, Geraldine Lautrette, Edward D Huey, Sandro Sorbi, Benedetta Nacmias, Robert Laforce, Marie-Pier L Tremblay, Rik Vandenberghe, Philip Van Damme, Emily J Rogalski, Sandra Weintraub, Alexander Gerhard, Chiadi U Onyike, Simon Ducharme, Sokratis G Papageorgiou, Adeline Su Lyn Ng, Amy Brodtmann, Elizabeth Finger, Rita Guerreiro, Jose Bras, Jonathan D Rohrer, Carolin Heller, Rhian S Convery, Ione OC Woollacott, Rachelle M Shafei, Jonathan Graff-Radford, David T Jones, Christina M Dheel, Rodolfo Savica, Maria I Lapid, Matt Baker, Julie A Fields, Ralitza Gavrilova, Kimiko Domoto-Reilly, Jackie M Poos, Emma L Van der Ende, Jessica L Panman, Laura Donker Kaat, Harro Seelaar, Anna Richardson, Giovanni Frisoni, Anna Mega, Silvia Fostinelli, Huei-Hsin Chiang, Antonella Alberici, Andrea Arighi, Chiara Fenoglio, Hilary Heuer, Bruce Miller, Anna Karydas, Jamie Fong, Maria João Leitão, Beatriz Santiago, Diana Duro, Carlos Ferreira, Alazne Gabilondo, Maria De Arriba, Mikel Tainta, Miren Zulaica, Catarina Ferreira, Elisa Semler, Albert Ludolph, Bernhard Landwehrmeyer, Alexander E Volk, Gabriel Miltenberger, Ana Verdelho, Sónia Afonso, Maria Carmela Tartaglia, Morris Freedman
发表日期
2020/2/1
期刊
The Lancet Neurology
卷号
19
期号
2
页码范围
145-156
出版商
Elsevier
简介
Background
Frontotemporal dementia is a heterogenous neurodegenerative disorder, with about a third of cases being genetic. Most of this genetic component is accounted for by mutations in GRN, MAPT, and C9orf72. In this study, we aimed to complement previous phenotypic studies by doing an international study of age at symptom onset, age at death, and disease duration in individuals with mutations in GRN, MAPT, and C9orf72.
Methods
In this international, retrospective cohort study, we collected data on age at symptom onset, age at death, and disease duration for patients with pathogenic mutations in the GRN and MAPT genes and pathological expansions in the C9orf72 gene through the Frontotemporal Dementia Prevention Initiative and from published papers. We used mixed effects models to explore differences in age at onset, age at death, and disease duration between genetic groups and individual …
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KM Moore, J Nicholas, M Grossman, CT McMillan… - The Lancet Neurology, 2020