作者
Aude Nicolas, Kevin P Kenna, Alan E Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A Dominov, Brendan J Kenna, Mike A Nalls, Pamela Keagle, Alberto M Rivera, Wouter van Rheenen, Natalie A Murphy, Joke JFA van Vugt, Joshua T Geiger, Rick A Van der Spek, Hannah A Pliner, Bradley N Smith, Giuseppe Marangi, Simon D Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D Eicher, Aoife Kenna, Francesco O Logullo, Isabella Simone, Giancarlo Logroscino, Fabrizio Salvi, Ilaria Bartolomei, Giuseppe Borghero, Maria Rita Murru, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Margherita Capasso, Claudia Caponnetto, Gianluigi Mancardi, Paola Origone, Paola Mandich, Francesca L Conforti, Sebastiano Cavallaro, Gabriele Mora, Kalliopi Marinou, Riccardo Sideri, Silvana Penco, Lorena Mosca, Christian Lunetta, Giuseppe Lauria Pinter, Massimo Corbo, Nilo Riva, Paola Carrera, Paolo Volanti, Jessica Mandrioli, Nicola Fini, Antonio Fasano, Lucio Tremolizzo, Alessandro Arosio, Carlo Ferrarese, Francesca Trojsi, Gioacchino Tedeschi, Maria Rosaria Monsurrò, Giovanni Piccirillo, Cinzia Femiano, Anna Ticca, Enzo Ortu, Vincenzo La Bella, Rossella Spataro, Tiziana Colletti, Mario Sabatelli, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Marialuisa Santarelli, Antonio Petrucci, Maura Pugliatti, Angelo Pirisi, Leslie D Parish, Patrizia Occhineri, Fabio Giannini, Stefania Battistini, Claudia Ricci, Michele Benigni, Tea B Cau, Daniela Loi, Andrea Calvo, Cristina Moglia, Maura Brunetti, Marco Barberis, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Canosa, Antonio Ilardi, Umberto Manera, Maurizio Grassano, Raffaella Tanel, Fabrizio Pisano, Letizia Mazzini, Sonia Messina, Isabella L Simone, Sandra D’Alfonso, Lucia Corrado, Luigi Ferrucci, Matthew B Harms, David B Goldstein, Neil A Shneider, Stephen Goutman, Zachary Simmons, Timothy M Miller, Siddharthan Chandran, Suvankar Pal, Georgios Manousakis, Stanley H Appel, Ericka Simpson, Leo Wang, Robert H Baloh, Summer Gibson, Richard Bedlack, David Lacomis, Dhruv Sareen, Alexander Sherman, Lucie Bruijn, Michelle Penny, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, Andrew S Allen, Stanley Appel, Richard S Bedlack, Braden E Boone, Robert Brown, John P Carulli, Alessandra Chesi, Wendy K Chung, Elizabeth T Cirulli, Gregory M Cooper
发表日期
2018/3/21
期刊
Neuron
卷号
97
期号
6
页码范围
1267-1288
出版商
Elsevier
简介
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting …
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A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri… - Neuron, 2018