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

被引：115

作者：

Guerreiro, Rita ^{[1
]}

Bilgic, Basar ^{[2
]}

Guven, Gamze ^{[3
]}

Bras, Jose ^{[1
]}

Rohrer, Jonathan ^{[4
]}

Lohmann, Ebba ^{[2
,5
,6
]}

Hanagasi, Hasmet ^{[2
]}

Gurvit, Hakan ^{[2
]}

Emre, Murat ^{[2
]}

机构：

[1] UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

[2] Istanbul Univ, Istanbul Fac Med, Dept Neurol, Behav Neurol & Movement Disorders Unit, Istanbul, Turkey

[3] Istanbul Univ, Dept Genet, Inst Expt Med, Istanbul, Turkey

[4] UCL, Inst Neurol, Dementia Res Ctr, London WC1N 3BG, England

[5] Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, Tubingen, Germany

[6] German Ctr Neurodegenerat Dis DZNE, Tubingen, Germany

来源：

NEUROBIOLOGY OF AGING | 2013年 / 34卷 / 12期

基金：

英国惠康基金;

关键词：

TREM2; Nasu-Hakola; Frontotemporal dementia; Compound heterozygous; DAP12;

D O I：

10.1016/j.neurobiolaging.2013.06.005

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

030301 [社会学]; 100201 [内科学];

摘要：

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.

引用

页码：2890.e1 / 2890.e5

页数：5

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