eprintid: 1564668
rev_number: 28
eprint_status: archive
userid: 608
dir: disk0/01/56/46/68
datestamp: 2017-07-16 09:32:38
lastmod: 2021-10-03 23:47:49
status_changed: 2017-07-18 12:02:50
type: article
metadata_visibility: show
creators_name: Turner, MR
creators_name: Al-Chalabi, A
creators_name: Chio, A
creators_name: Hardiman, O
creators_name: Kiernan, MC
creators_name: Rohrer, JD
creators_name: Rowe, J
creators_name: Seeley, W
creators_name: Talbot, K
title: Genetic screening in sporadic ALS and FTD
ispublished: pub
divisions: UCL
divisions: B02
divisions: C07
divisions: D07
divisions: F86
keywords: ALS, C9ORF, FRONTOTEMPORAL DEMENTIA, GENETICS
note: 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/
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.
date: 2017-12-01
date_type: published
official_url: http://doi.org/10.1136/jnnp-2017-315995
oa_status: green
full_text_type: pub
language: eng
primo: open
primo_central: open_green
article_type_text: Editorial
verified: verified_manual
elements_id: 1300017
doi: 10.1136/jnnp-2017-315995
pii: jnnp-2017-315995
lyricists_name: Rohrer, Jonathan
lyricists_id: JDROH34
actors_name: Rohrer, Jonathan
actors_name: Laslett, David
actors_id: JDROH34
actors_id: DLASL34
actors_role: owner
actors_role: impersonator
full_text_status: public
publication: Journal of Neurology, Neurosurgery & Psychiatry
volume: 88
number: 12
pagerange: 1042-1044
event_location: England
issn: 1468-330X
citation:        Turner, MR;    Al-Chalabi, A;    Chio, A;    Hardiman, O;    Kiernan, MC;    Rohrer, JD;    Rowe, J;         ... Talbot, K; + view all <#>        Turner, MR;  Al-Chalabi, A;  Chio, A;  Hardiman, O;  Kiernan, MC;  Rohrer, JD;  Rowe, J;  Seeley, W;  Talbot, K;   - view fewer <#>    (2017)    Genetic screening in sporadic ALS and FTD.                   Journal of Neurology, Neurosurgery & Psychiatry , 88  (12)   pp. 1042-1044.    10.1136/jnnp-2017-315995 <https://doi.org/10.1136/jnnp-2017-315995>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/1564668/1/Rohrer_jnnp-2017-315995.full.pdf