Article Text

other Versions

Download PDFPDF
Should all patients with ALS have genetic testing?
  1. Kevin Talbot
  1. Correspondence to Professor Kevin Talbot, Nuffield Department of Clinical Neurosciences, University of Oxford, 3rd Floor, West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK; kevin.talbot{at}

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Routine testing is not indicated, but the role of genetic factors should be discussed with all patients with amyotrophic lateral sclerosis (ALS)

Until recently, the world was populated by two types of patients with ALS: those with sporadic ALS (sALS) and those with familial ALS. The 5% with a family history needed special care and attention to help them come to terms with the double tragedy of having a devastating terminal disease and knowing that they could pass it on to their children. The other 95% could be confidently reassured that no one else in their family need consider themselves at risk. Furthermore, since there was only one ALS-determining gene, SOD1, affecting 20% of the familial cases, testing and counselling was relatively simple, and most patients had to accept that the precise cause of their disease could not yet be determined.

Rapid advances in ALS genetics in recent years, principally the discovery that approximately 10% of …

View Full Text


  • Competing interests None.

  • Provenance and peer review Commissioned; externally peer reviewed.

Linked Articles

  • Neurogenetics
    Adriano Chiò Stefania Battistini Andrea Calvo Claudia Caponnetto Francesca L Conforti Massimo Corbo Fabio Giannini Jessica Mandrioli Gabriele Mora Mario Sabatelli the ITALSGEN Consortium Maria Rosaria Monsurrò Gioacchino Tedeschi Amelia Conte Marco Luigetti Serena Lattante Giuseppe Marangi Paolo Volanti Kalliopi Marinou Laura Papetti Christian Lunetta Giuseppe Lauria Pintor Fabrizio Salvi Ilaria Bartolomei Aldo Quattrone Antonio Gambardella Giancarlo Logroscino Isabella Simone Fabrizio Pisano Rossella Spataro Vincenzo La Bella Tiziana Colletti Gianluigi Mancardi Paola Origone Patrizia Sola Giuseppe Borghero Francesco Marrosu Maria Giovanna Marrosu Maria Rita Murru Gianluca Floris Antonino Cannas Valeria Piras Emanuela Costantino Carla Pani Maria Alessandra Sotgiu Maura Pugliatti Leslie D. Parish Paola Cossu Anna Ticca Carmelo Rodolico Simona Portaro Claudia Ricci Cristina Moglia Irene Ossola Maura Brunetti Marco Barberis Antonio Canosa Stefania Cammarosano Davide Bertuzzo Giuseppe Fuda Antonio Ilardi Umberto Manera Ilaria Pastore William Sproviero Francesco Logullo Raffaella Tanel Clara Ajmone Enza Mastro Debora Pain Paola Mandich Silvana Penco Gabriella Restagno Marcella Zollino Antonella Surbone