Elsevier

Neurobiology of Aging

Volume 34, Issue 12, December 2013, Pages 2890.e1-2890.e5
Neurobiology of Aging

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

https://doi.org/10.1016/j.neurobiolaging.2013.06.005Get rights and content
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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.

Keywords

TREM2
Nasu-Hakola
Frontotemporal dementia
Compound heterozygous

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1

These authors contributed equally to this work.