作者
Jonathan D Rohrer, Jennifer M Nicholas, David M Cash, John Van Swieten, Elise Dopper, Lize Jiskoot, Rick Van Minkelen, Serge A Rombouts, M Jorge Cardoso, Shona Clegg, Miklos Espak, Simon Mead, David L Thomas, Enrico De Vita, Mario Masellis, Sandra E Black, Morris Freedman, Ron Keren, Bradley J MacIntosh, Ekaterina Rogaeva, David Tang-Wai, Maria Carmela Tartaglia, Robert Laforce, Fabrizio Tagliavini, Pietro Tiraboschi, Veronica Redaelli, Sara Prioni, Marina Grisoli, Barbara Borroni, Alessandro Padovani, Daniela Galimberti, Elio Scarpini, Andrea Arighi, Giorgio Fumagalli, James B Rowe, Ian Coyle-Gilchrist, Caroline Graff, Marie Fallström, Vesna Jelic, Anne Kinhult Ståhlbom, Christin Andersson, Håkan Thonberg, Lena Lilius, Giovanni B Frisoni, Giuliano Binetti, Michela Pievani, Martina Bocchetta, Luisa Benussi, Roberta Ghidoni, Elizabeth Finger, Sandro Sorbi, Benedetta Nacmias, Gemma Lombardi, Cristina Polito, Jason D Warren, Sebastien Ourselin, Nick C Fox, Martin N Rossor
发表日期
2015/3/1
期刊
The Lancet Neurology
卷号
14
期号
3
页码范围
253-262
出版商
Elsevier
简介
Background
Frontotemporal dementia is a highly heritable neurodegenerative disorder. In about a third of patients, the disease is caused by autosomal dominant genetic mutations usually in one of three genes: progranulin (GRN), microtubule-associated protein tau (MAPT), or chromosome 9 open reading frame 72 (C9orf72). Findings from studies of other genetic dementias have shown neuroimaging and cognitive changes before symptoms onset, and we aimed to identify whether such changes could be shown in frontotemporal dementia.
Methods
We recruited participants to this multicentre study who either were known carriers of a pathogenic mutation in GRN, MAPT, or C9orf72, or were at risk of carrying a mutation because a first-degree relative was a known symptomatic carrier. We calculated time to expected onset as the difference between age at assessment and mean age at onset within the family …
学术搜索中的文章
JD Rohrer, JM Nicholas, DM Cash, J Van Swieten… - The Lancet Neurology, 2015