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

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• 作者：Rita Guerreiro ; Basar Bilgic ; Gamze Guven ; Jos¨¦ Br¨¢s ; Jonathan Rohrer ; Ebba Lohmann ; Hasmet Hanagasi ; Hakan Gurvit ; Murat Emre
• 关键词：TREM2 ; Nasu-Hakola ; Frontotemporal dementia ; Compound heterozygous
• 刊名：Neurobiology of Aging
• 出版年：2013
• 出版时间：December, 2013
• 年：2013
• 卷：34
• 期：12
• 页码：2890.e1-2890.e5
• 全文大小：654 K

文摘

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.