Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2016 Dec;16(12):107.
doi: 10.1007/s11910-016-0707-9.

Genetics of Frontotemporal Dementia

Diana A Olszewska  1 , Roisin Lonergan  1 , Emer M Fallon  1 , Tim Lynch  2
Affiliations
Review

Genetics of Frontotemporal Dementia

Diana A Olszewska et al. Curr Neurol Neurosci Rep. 2016 Dec.

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.

Keywords: +15; DDPAC; FTDP-17; Frontotemporal dementia; Genetics.

PubMed Disclaimer

References

    1. J Med Chem. 2015 Sep 24;58(18):7241-57 - PubMed
    1. Neurology. 1994 Oct;44(10):1878-84 - PubMed
    1. Hum Mol Genet. 1999 Apr;8(4):711-5 - PubMed
    1. Expert Opin Ther Targets. 2016 Jun;20(6):653-61 - PubMed
    1. Lancet Neurol. 2015 Mar;14(3):291-301 - PubMed

LinkOut - more resources