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Neurobiology of aging · Dec 2013
Review Case ReportsNovel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family.
- Rita Guerreiro, Basar Bilgic, Gamze Guven, José Brás, Jonathan Rohrer, Ebba Lohmann, Hasmet Hanagasi, Hakan Gurvit, and Murat Emre.
- Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK. Electronic address: r.guerreiro@ucl.ac.uk.
- Neurobiol. Aging. 2013 Dec 1; 34 (12): 2890.e1-5.
AbstractTriggering 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.Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.
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