Ontology highlight
ABSTRACT:
SUBMITTER: Guerreiro R
PROVIDER: S-EPMC3898264 | biostudies-literature | 2013 Dec
REPOSITORIES: biostudies-literature
Guerreiro Rita R Bilgic Basar B Guven Gamze G Brás José J Rohrer Jonathan J Lohmann Ebba E Hanagasi Hasmet H Gurvit Hakan H Emre Murat M
Neurobiology of aging 20130717 12
Triggering receptor expressed on myeloid cells 2 (TREM2) homozygous mutations cause Nasu-Hakola disease, an early-onset recessive form of dementia preceded by bone cysts and fractures. The same type of mutations has recently been shown to cause frontotemporal dementia (FTD) without the presence of any bone phenotype. Here, we further confirm the association of TREM2 mutations with FTD-like phenotypes by reporting the first compound heterozygous mutation in a Turkish family. ...[more]