The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis

Kristiana Salmon; Matthew C Kiernan; Seung H Kim; Peter M Andersen; Adriano Chio; Leonard H van den Berg; Philip Van Damme; Ammar Al-Chalabi; Patricia Lillo; Jinsy A Andrews; Angela Genge

doi:10.1093/brain/awab472

The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis

Brain. 2022 May 24;145(4):1207-1210. doi: 10.1093/brain/awab472.

Authors

Kristiana Salmon¹, Matthew C Kiernan^{2

3}, Seung H Kim⁴, Peter M Andersen⁵, Adriano Chio^{6

7}, Leonard H van den Berg⁸, Philip Van Damme^{9

10}, Ammar Al-Chalabi¹¹, Patricia Lillo¹², Jinsy A Andrews¹³, Angela Genge¹

Affiliations

¹ Department of Neurology and Neurosurgery, Montreal Neurological Institute-Hospital, McGill University, Montreal, Quebec, Canada.
² Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia.
³ Department of Neurology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
⁴ Department of Neurology, College of Medicine, Hanyang University, Seoul, South Korea.
⁵ Department of Clinical Science, Neurosciences, Umeå University, Umeå, Sweden.
⁶ ALS Centre, Department of Neuroscience 'Rita Levi Montalcini', University of Torino, Turin, Italy.
⁷ SC Neurologia 1U, AOU Città della Salute e della Scienza of Torino, Turin, Italy.
⁸ Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.
⁹ Department of Neurosciences, Laboratory for Neurobiology, KU Leuven and Center for Brain and Disease Research, VIB, Leuven Brain Institute, Leuven, Belgium.
¹⁰ Department of Neurology, University Hospital Leuven, Leuven, Belgium.
¹¹ Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
¹² Departamento de Neurología Sur, Facultad de Medicina, Universidad de Chile and Geroscience Center for Brain Health and Metabolism, Santiago, Chile.
¹³ The Eleanor and Lou Gehrig ALS Center, The Neurological Institute, New York, NY, USA.

Abstract

Several genetically-targeted therapies are being developed for ALS. Research is increasingly supportive of a greater incidence of clinically actionable variants in sporadic ALS than previously reported. Salmon et al. outline the need to improve access, and offer genetic testing to all people diagnosed with ALS.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amyotrophic Lateral Sclerosis* / diagnosis
Amyotrophic Lateral Sclerosis* / genetics
Genetic Testing
Humans
Mutation / genetics

Abstract

Publication types

MeSH terms

Grants and funding