PT - JOURNAL ARTICLE AU - Turner, Martin R AU - Al-Chalabi, Ammar AU - Chio, Adriano AU - Hardiman, Orla AU - Kiernan, Matthew C AU - Rohrer, Jonathan D AU - Rowe, James AU - Seeley, William AU - Talbot, Kevin 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.