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Genetic screening in sporadic ALS and FTD.

Published version
Peer-reviewed

Type

Article

Change log

Authors

Al-Chalabi, Ammar 
Chio, Adriano 
Hardiman, Orla 
Kiernan, Matthew C 

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.

Description

Keywords

ALS, C9ORF, FRONTOTEMPORAL DEMENTIA, GENETICS, Amyotrophic Lateral Sclerosis, C9orf72 Protein, Frontotemporal Dementia, Genetic Testing, Humans, Reproducibility of Results

Journal Title

J Neurol Neurosurg Psychiatry

Conference Name

Journal ISSN

0022-3050
1468-330X

Volume Title

88

Publisher

BMJ
Sponsorship
Wellcome Trust (103838/Z/14/Z)
Medical Research Council (MR/J009482/1)
Medical Research Council (MC_U105597119)