Genetic screening in sporadic ALS and FTD

Journal article

The increasing complexity of the genetic landscape in ALS and FTD presents a signifi-cant resource and physician training challenge. At least 10% of those diagnosed with amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (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 de-finitive 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.

Authors: Turner, M; Al Chalabi, A; Chio, A; Hardiman, O; Kiernan, M

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: BMJ Publishing
• Journal: Journal of Neurology, Neurosurgery and Psychiatry
• Volume: 88
• Issue: 12
• Pages: 1042-1044
• Publication date: 2017-06-21
• Acceptance date: 2017-05-22
• DOI: 10.1136/jnnp-2017-315995
• EISSN: 1468-330X
• ISSN: 0022-3050
• Keywords: frontotemporal dementia; hereditary; motor neuron disease; ethics; screening; C9orf72; sporadic; genetics; amyotrophic lateral sclerosis; familial