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Journal article

Genetic screening in sporadic ALS and FTD

Abstract:

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 ab...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1136/jnnp-2017-315995

Authors


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Department:
Oxford, MSD, Clinical Neurosciences
Al Chalabi, A More by this author
Hardiman, O More by this author
Kiernan, MC More by this author
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Publisher:
BMJ Publishing Publisher's website
Journal:
Journal of Neurology, Neurosurgery and Psychiatry Journal website
Volume:
88
Issue:
12
Pages:
1042-1044
Publication date:
2017-06-21
Acceptance date:
2017-05-22
DOI:
EISSN:
1468-330X
ISSN:
0022-3050
Pubs id:
pubs:696721
URN:
uri:d5ebafeb-3470-4b3e-9a2d-340eb3a09455
UUID:
uuid:d5ebafeb-3470-4b3e-9a2d-340eb3a09455
Local pid:
pubs:696721

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