PT  - JOURNAL ARTICLE
AU  - Martin R Turner
AU  - Ammar Al-Chalabi
AU  - Adriano Chio
AU  - Orla Hardiman
AU  - Matthew C Kiernan
AU  - Jonathan D Rohrer
AU  - James Rowe
AU  - William Seeley
AU  - Kevin Talbot
TI  - Genetic screening in sporadic ALS and FTD
AID  - 10.1136/jnnp-2017-315995
DP  - 2017 Dec 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 1042--1044
VI  - 88
IP  - 12
4099  - http://jnnp.bmj.com/content/88/12/1042.short
4100  - http://jnnp.bmj.com/content/88/12/1042.full
SO  - J Neurol Neurosurg Psychiatry2017 Dec 01; 88
AB  - 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.