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 J F A van Vugt, Joshua T Geiger, Rick A Van der Spek, Hannah A Pliner, Shankaracharya, Bradley N Smith, Giuseppe Marangi, Simon D Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L Conforti, Giuseppe Borghero, Sonia Messina, Isabella L Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O Logullo, Sandra D'Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B Goldstein, Aaron D Gitler, Tim Harris, Richard M Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C Zody, Julia Kaye, Steven Finkbeiner, Stacia K Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N Svendsen, Leslie M Thompson, Jennifer E Van Eyk, James D Berry, Timothy M Miller, Stephen J Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W Orrell, Katie C Sidle, Andrea Malaspina, John Hardy, Andrew B Singleton, Janel O Johnson, Sampath Arepalli, Peter C Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L M A Ten Asbroek, José Luis Muñoz-Blanco, Dena G Hernandez, Jinhui Ding, J Raphael Gibbs, Sonja W Scholz, Mary Kay Floeter, Roy H Campbell, Francesco Landi, Robert Bowser, Stefan M Pulst, John M Ravits, Daniel J L MacGowan, Janine Kirby, Erik P Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L Dunckley, Christopher B Brady, Neil W Kowall, Juan C Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H Baloh, Tim M Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L McLaughlin, Michael A Van Es, Markus Weber, Kevin B Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E Morrison, A Nazli Basak, Jesús S Mora, Vivian E Drory, Pamela J Shaw, Martin R Turner, Kevin Talbot, Orla Hardiman, Kelly L Williams, Jennifer A Fifita, Garth A Nicholson, Ian P Blair, Guy A Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W Ostrow, Nicholas J Maragakis, Jeffrey D Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A Goutman, Eva L Feldman, Summer B Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt, William Camu, John Q Trojanowski, Vivianna M Van Deerlin, Robert H Brown, Leonard H van den Berg, Jan H Veldink, Matthew B Harms, Jonathan D Glass, David J Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E Shaw, Bryan J Traynor, John E Landers
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)...
March 21, 2018: Neuron