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Current Neurology and Neuroscience Reports
Published in: Current Neurology and Neuroscience Reports 12/2016

01-12-2016 | Dementia (KS Marder, Section Editor)

Genetics of Frontotemporal Dementia

Authors: Diana A. Olszewska, Roisin Lonergan, Emer M. Fallon, Tim Lynch

Published in: Current Neurology and Neuroscience Reports | Issue 12/2016

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Abstract

Frontotemporal dementia (FTD) is the second most common cause of dementia following Alzheimer’s disease (AD). Between 20 and 50% of cases are familial. Mutations in MAPT, GRN and C9orf72 are found in 60% of familial FTD cases. C9orf72 mutations are the most common and account for 25%. Rarer mutations (<5%) occur in other genes such as VPC, CHMP2B, TARDP, FUS, ITM2B, TBK1 and TBP. The diagnosis is often challenging due to symptom overlap with AD and other conditions. We review the genetics, clinical presentations, neuroimaging, neuropathology, animal studies and therapeutic trials in FTD. We describe clinical scenarios including the original family with the tau stem loop mutation (+14) and also the recently discovered ‘missing tau’ mutation +15 that ‘closed the loop’ in 2015.
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Metadata
Title
Genetics of Frontotemporal Dementia
Authors
Diana A. Olszewska
Roisin Lonergan
Emer M. Fallon
Tim Lynch
Publication date
01-12-2016
Publisher
Springer US
Published in
Current Neurology and Neuroscience Reports / Issue 12/2016
Print ISSN: 1528-4042
Electronic ISSN: 1534-6293
DOI
https://doi.org/10.1007/s11910-016-0707-9

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