作者
Michael Zech, Robert Jech, Sylvia Boesch, Matej Škorvánek, Sandrina Weber, Matias Wagner, Chen Zhao, Angela Jochim, Ján Necpál, Yasemin Dincer, Katharina Vill, Felix Distelmaier, Malgorzata Stoklosa, Martin Krenn, Stephan Grunwald, Tobias Bock-Bierbaum, Anna Fečíková, Petra Havránková, Jan Roth, Iva Příhodová, Miriam Adamovičová, Olga Ulmanová, Karel Bechyně, Pavlína Danhofer, Branislav Veselý, Vladimír Haň, Petra Pavelekova, Zuzana Gdovinová, Tobias Mantel, Tobias Meindl, Alexandra Sitzberger, Sebastian Schröder, Astrid Blaschek, Timo Roser, Michaela V Bonfert, Edda Haberlandt, Barbara Plecko, Birgit Leineweber, Steffen Berweck, Thomas Herberhold, Berthold Langguth, Jana Švantnerová, Michal Minár, Gonzalo Alonso Ramos-Rivera, Monica H Wojcik, Sander Pajusalu, Katrin Õunap, Ulrich A Schatz, Laura Pölsler, Ivan Milenkovic, Franco Laccone, Veronika Pilshofer, Roberto Colombo, Steffi Patzer, Arcangela Iuso, Julia Vera, Monica Troncoso, Fang Fang, Holger Prokisch, Friederike Wilbert, Matthias Eckenweiler, Elisabeth Graf, Dominik S Westphal, Korbinian M Riedhammer, Theresa Brunet, Bader Alhaddad, Riccardo Berutti, Tim M Strom, Martin Hecht, Matthias Baumann, Marc Wolf, Aida Telegrafi, Richard E Person, Francisca Millan Zamora, Lindsay B Henderson, David Weise, Thomas Musacchio, Jens Volkmann, Anna Szuto, Jessica Becker, Kirsten Cremer, Thomas Sycha, Fritz Zimprich, Verena Kraus, Christine Makowski, Pedro Gonzalez-Alegre, Tanya M Bardakjian, Laurie J Ozelius, Annalisa Vetro, Renzo Guerrini, Esther Maier, Ingo Borggraefe, Alice Kuster, Saskia B Wortmann, Annette Hackenberg, Robert Steinfeld, Birgit Assmann, Christian Staufner, Thomas Opladen, Evžen Růžička, Ronald D Cohn, David Dyment, Wendy K Chung, Hartmut Engels, Andres Ceballos-Baumann, Rafal Ploski, Oliver Daumke, Bernhard Haslinger, Volker Mall, Konrad Oexle, Juliane Winkelmann
发表日期
2020/11/1
期刊
The Lancet Neurology
卷号
19
期号
11
页码范围
908-918
出版商
Elsevier
简介
Background
Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation (isolated dystonia), in combination with other movement disorders (combined dystonia), or in the context of multisymptomatic phenotypes (isolated or combined dystonia with other neurological involvement). However, our understanding of its aetiology is still incomplete. We aimed to elucidate the monogenic causes for the major clinical categories of dystonia.
Methods
For this exome-wide sequencing study, study participants were identified at 33 movement-disorder and neuropaediatric specialty centres in Austria, Czech Republic, France, Germany, Poland, Slovakia, and Switzerland. Each individual with dystonia was diagnosed in accordance with the dystonia consensus definition. Index cases were eligible for this study if they had no previous genetic diagnosis and no indication of an acquired cause of their illness …
学术搜索中的文章
M Zech, R Jech, S Boesch, M Škorvánek, S Weber… - The Lancet Neurology, 2020