TY  - JOUR
EP  - 1044
AV  - public
Y1  - 2017/12/01/
TI  - Genetic screening in sporadic ALS and FTD
KW  - ALS
KW  -  C9ORF
KW  -  FRONTOTEMPORAL DEMENTIA
KW  -  GENETICS
ID  - discovery1564668
N2  - 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.
N1  - 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/
IS  - 12
VL  - 88
SP  - 1042
A1  - Turner, MR
A1  - Al-Chalabi, A
A1  - Chio, A
A1  - Hardiman, O
A1  - Kiernan, MC
A1  - Rohrer, JD
A1  - Rowe, J
A1  - Seeley, W
A1  - Talbot, K
JF  - Journal of Neurology, Neurosurgery & Psychiatry
SN  - 1468-330X
UR  - http://doi.org/10.1136/jnnp-2017-315995
ER  -