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Genetic screening in sporadic ALS and FTD.

Authors
  • Turner, Martin R1
  • Al-Chalabi, Ammar2
  • Chio, Adriano3
  • Hardiman, Orla4
  • Kiernan, Matthew C5
  • Rohrer, Jonathan D6
  • Rowe, James7
  • Seeley, William8
  • Talbot, Kevin1
  • 1 Nuffield Department of Clinical Neurosciences, Oxford University, Oxford, UK.
  • 2 Department of Basic and Clinical Neuroscience, King's College London, London, UK.
  • 3 Department of Neuroscience, University of Torino, Torino, Italy. , (Italy)
  • 4 Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland. , (Ireland)
  • 5 Brain and Mind Centre, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia. , (Australia)
  • 6 Dementia Research Centre, UCL Institute of Neurology, London, UK.
  • 7 Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
  • 8 Department of Neurology, Memory and Aging Center University of California San Francisco, San Francisco, California, USA.
Type
Published Article
Journal
Journal of Neurology Neurosurgery & Psychiatry
Publisher
BMJ
Publication Date
Dec 01, 2017
Volume
88
Issue
12
Pages
1042–1044
Identifiers
DOI: 10.1136/jnnp-2017-315995
PMID: 28642287
Source
Medline
Keywords
License
Unknown

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.

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