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

Guerreiro, R; Bilgic, B; Guven, G; Brás, J; Rohrer, J; Lohmann, E; Hanagasi, H; ... Emre, M; + view all (2013) A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family. Neurobiology of Aging , 34 (12) 2890.e1-2890.e5. 10.1016/j.neurobiolaging.2013.06.005. Green open access

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Abstract

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.

Type: Article
Title: A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.neurobiolaging.2013.06.005
Publisher version: http://dx.doi.org/10.1016/j.neurobiolaging.2013.06...
Language: English
Additional information: © 2013 The Authors. Published by Elsevier Inc. All rights reserved. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Keywords: Compound heterozygous, Frontotemporal dementia, Nasu-Hakola, TREM2
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1406080
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