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

Neurobiol Aging. 2013 Dec;34(12):2890.e1-5. doi: 10.1016/j.neurobiolaging.2013.06.005. Epub 2013 Jul 17.


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.

Keywords: Compound heterozygous; Frontotemporal dementia; Nasu-Hakola; TREM2.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Female
  • Frontotemporal Dementia / diagnosis
  • Frontotemporal Dementia / genetics*
  • Heterozygote*
  • Humans
  • Lipodystrophy / genetics
  • Magnetic Resonance Imaging
  • Male
  • Membrane Glycoproteins / genetics*
  • Mutation / genetics*
  • Osteochondrodysplasias / genetics
  • Phenotype
  • Receptors, Immunologic / genetics*
  • Subacute Sclerosing Panencephalitis / genetics
  • Tomography, X-Ray Computed
  • Turkey


  • Membrane Glycoproteins
  • Receptors, Immunologic
  • TREM2 protein, human

Supplementary concepts

  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy