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.
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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-pp.ucl.ac.uk/id/eprint/1406080 |
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