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.
Highlights
Nasu-Hakola disease (NHD, OMIM 221770), known as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, is a rare autosomal recessive disease characterized by a combination of progressive young-onset dementia and multifocal bone cysts (Paloneva et al, 2001)
NHD is caused by mutations in 1 of 2 genes: TYRO protein tyrosine kinaseebinding protein (TYROBP) on chromosome 19q13.1 and triggering receptor expressed on myeloid cells 2 (TREM2) on chromosome 6p21.1
Cases with homozygous mutations in TREM2 have been described to present atypical phenotypes resembling behavioral variant frontotemporal dementia and lacking stage (2) of the clinical picture described previously (Chouery et al, 2008; Giraldo et al, 2013; Guerreiro et al, 2013b)
Summary
Nasu-Hakola disease (NHD, OMIM 221770), known as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, is a rare autosomal recessive disease characterized by a combination of progressive young-onset dementia and multifocal bone cysts (Paloneva et al, 2001). Cases with homozygous mutations in TREM2 have been described to present atypical phenotypes resembling behavioral variant frontotemporal dementia (bvFTD) and lacking stage (2) of the clinical picture described previously (Chouery et al, 2008; Giraldo et al, 2013; Guerreiro et al, 2013b). 14 different mutations have been identified in TREM2 including nonsense, missense, small deletions, and splice site homozygous mutations (Giraldo et al, 2013). We report the first TREM2 compound heterozygous mutation identified in a Turkish family presenting with an FTD-like phenotype
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