A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family


Guerreiro R., Bilgic B. , Guven G. , Bras J., Rohrer J., Lohmann E., ...Daha Fazla

NEUROBIOLOGY OF AGING, cilt.34, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Özet

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. (C) 2013 The Authors. Published by Elsevier Inc. All rights reserved.