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

作者：Guerreiro Rita^*; Bilgic Basar; Guven Gamze; Bras Jose; Rohrer Jonathan; Lohmann Ebba; Hanagasi Hasmet; Gurvit Hakan; Emre Murat

来源：Neurobiology of Aging, 2013, 34(12): 2890.e1.

DOI：10.1016/j.neurobiolaging.2013.06.005

• TREM2
• Nasu-Hakola
• Frontotemporal dementia
• Compound heterozygous

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.

• 出版日期2013-12