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Genetic screening in sporadic ALS and FTD
  1. Martin R Turner1,
  2. Ammar Al-Chalabi2,
  3. Adriano Chio3,
  4. Orla Hardiman4,
  5. Matthew C Kiernan5,
  6. Jonathan D Rohrer6,
  7. James Rowe7,
  8. William Seeley8,
  9. Kevin Talbot1
  1. 1 Nuffield Department of Clinical Neurosciences, Oxford University, Oxford, UK
  2. 2 Department of Basic and Clinical Neuroscience, King’s College London, London, UK
  3. 3 Department of Neuroscience, University of Torino, Torino, Italy
  4. 4 Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland
  5. 5 Brain and Mind Centre, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia
  6. 6 Dementia Research Centre, UCL Institute of Neurology, London, UK
  7. 7 Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK
  8. 8 Department of Neurology, Memory and Aging Center University of California San Francisco, San Francisco, California, USA
  1. Correspondence to Professor Martin R Turner, Nuffield Department of Clinical Neurosciences, West Wing Level 6, John Radcliffe Hospital, Oxford, OX3 9DU, UK; martin.turner{at}ndcn.ox.ac.uk

Abstract

The increasing complexity of the genetic landscape in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) presents a significant resource and physician training challenge. At least 10% of those diagnosed with ALS or FTD are known to carry an autosomal dominant genetic mutation. There is no consensus on what constitutes a positive family history, and ascertainment is unreliable for many reasons. However, symptomatic individuals often wish to understand as much as possible about the cause of their disease, and to share this knowledge with their family. While the right of an individual not to know is a key aspect of patient autonomy, and despite the absence of definitive therapy, many newly diagnosed individuals are likely to elect for genetic testing if offered. It is incumbent on the practitioner to ensure that they are adequately informed, counselled and supported in this decision.

  • ALS
  • C9ORF
  • FRONTOTEMPORAL DEMENTIA
  • GENETICS

This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/

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Footnotes

  • Contributors MRT conceived and drafted the manuscript, and is guarantor for the content. AAC, AC, OH, MCK, JDR, JR, WS and KT edited the manuscript.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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