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, sa.12, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 12
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.neurobiolaging.2013.06.005
  • Dergi Adı: NEUROBIOLOGY OF AGING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: TREM2, Nasu-Hakola, Frontotemporal dementia, Compound heterozygous, DAP12
  • İstanbul Üniversitesi Adresli: Evet

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.