The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis-Reference-Cited by-同舟云学术

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

Published:2022-01-10 Issue: Volume: Page:
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Salmon Kristiana¹,Kiernan Matthew C.²³^ORCID,Kim Seung H.⁴^ORCID,Andersen Peter M.⁵^ORCID,Chio Adriano⁶⁷^ORCID,van den Berg Leonard H.⁸^ORCID,Van Damme Philip⁹¹⁰^ORCID,Al-Chalabi Ammar¹¹^ORCID,Lillo Patricia¹²^ORCID,Andrews Jinsy A.¹³^ORCID,Genge Angela¹

Affiliation:

1. Department of Neurology & 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 1 U, 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 & 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 & 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

Teaser 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.

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awab472/42114633/awab472.pdf

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1. Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication;Journal of Neurology;2023-12-19

2. Evaluating the Utility of REVEL and CADD for Interpreting Variants in Amyotrophic Lateral Sclerosis Genes;Human Mutation;2023-11-13

3. Theme 02 - Genetics and Genomics;Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration;2023-11-06

4. Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts;Journal of Neurology;2023-10-27

5. Misdiagnosis of amyotrophic lateral sclerosis in clinical practice in Europe and the USA: a patient chart review and physician survey;Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration;2023-10-05