Article
Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia.
Neurobiology of aging - 1 Mar 2014
Cuyvers Elise, Bettens Karolien, Philtjens Stéphanie, Van Langenhove Tim, Gijselinck Ilse, van der Zee Julie, Engelborghs Sebastiaan, Vandenbulcke Mathieu, Van Dongen Jasper, Geerts Nathalie, Maes Githa, Mattheijssens Maria, Peeters Karin, Cras Patrick, Vandenberghe Rik, De Deyn Peter P, Van Broeckhoven Christine, Cruts Marc, Sleegers Kristel
Abstract excerpt
Homozygous mutations in exon 2 of TREM2, a gene involved in Nasu-Hakola disease, can cause frontotemporal dementia (FTD). Moreover, a rare TREM2 exon 2 variant (p.R47H) was reported to increase the risk of Alzheimer's disease (AD) with an odds ratio as strong as that for APOEε4. We systematically screened the TREM2 coding region within a Belgian study on neurodegenerative brain diseases (1216 AD patients, 357 FTD...
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