Turner, MR;
Al-Chalabi, A;
Chio, A;
Hardiman, O;
Kiernan, MC;
Rohrer, JD;
Rowe, J;
... Talbot, K; + view all
(2017)
Genetic screening in sporadic ALS and FTD.
Journal of Neurology, Neurosurgery & Psychiatry
, 88
(12)
pp. 1042-1044.
10.1136/jnnp-2017-315995.
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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.
| Type: | Article |
|---|---|
| Title: | Genetic screening in sporadic ALS and FTD |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1136/jnnp-2017-315995 |
| Publisher version: | http://doi.org/10.1136/jnnp-2017-315995 |
| Language: | English |
| Additional information: | 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/ |
| Keywords: | ALS, C9ORF, FRONTOTEMPORAL DEMENTIA, GENETICS |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1564668 |
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