Cited by 162Neuroinflammation and Neurodegeneration MechanismsAlzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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

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Guerreiro, Rita, Bilgic, Basar, Guven, Gamze, Brás, José, Rohrer, Jonathan, Lohmann, Ebba, Hanagasi, Hasmet, Gurvit, Hakan, Emre, Murat·2013·Neurobiology of Aging

DOI 10.1016/j.neurobiolaging.2013.06.005PMC PMC3898264

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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.

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Fig. 1 Pedigree of the family where the compound heterozygous mutation p.[(Y38C)];[(D86V)] in TREM2 was found. The arrowhead indicates the proband. Black filled symbols represent affected subjects with dementia. White symbols represent unaffected family members. The TREM2 variants found are represented below each individual showing segregation of the compound heterozygous mutation with the disease.CC BY · PubMed Central

Fig. 2 Magnetic resonance imaging of the proband. (A) Transverse T1-weighted image shows atrophy of the frontoparietal cortices. (B) Transverse fluid-attenuated inversion recovery image demonstrates mild but diffuse hyperintense appearance of the white matter, mainly located in the neighborhood of the ventricle horns. (C) In sagittal T2-weighted image, there is marked thinning of the entire corpus callosum. (D) Coronal T2-weighted image reveals enlargement of the lateral and third ventricles with atrophy of the bilateral caudate nuclei.CC BY · PubMed Central

Fig. 3 Both T1 and fluid-attenuated inversion recovery images demonstrate symmetrical hypointense lesions in basal ganglia.CC BY · PubMed Central

Fig. 4 Computed tomography of the proband reveals symmetrical hyperdense lesions resembling calcifications in the globus pallidus.CC BY · PubMed Central

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Authors: Guerreiro, R., Bilgic, B., Guven, G., Brás, J., Rohrer, J., Lohmann, E., Hanagasi, H., Gurvit, H., & Emre, M.
Affiliations: UCL Queen Square Institute of Neurology (GB)
German Center for Neurodegenerative Diseases (DE)
Istanbul University (TR)
Corresponding author: Guerreiro, Rita
ORCID: Guerreiro, Rita
Brás, José
Rohrer, Jonathan
Lohmann, Ebba
Gurvit, Hakan
Venue: Neurobiology of Aging
Publisher: Elsevier BV
Published: 2013-12
Volume: 34
Issue: 12
Pages: 2890.e1-2890.e5
ISSN: 0197-4580 (ISSN-L)
DOI: 10.1016/j.neurobiolaging.2013.06.005
PMC: PMC3898264
OpenAlex: W2086009263
Cited by: 158
References: 8
Citations by year: 2026: 4 · 2025: 6 · 2024: 6 · 2023: 22 · 2022: 9 · 2021: 23 · 2020: 17 · 2019: 12 · 2018: 14 · 2017: 12 · 2016: 14 · 2015: 10 · 2014: 6 · 2013: 1
FWCI: 5.80
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
creativecommons.org/licenses/by/3.0/ (vor)
Locations: Neurobiology of Aging (publishedVersion, cc-by)
Europe PMC (PubMed Central) (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
UCL Discovery (University College London) (submittedVersion)
DZNE Pub (submittedVersion, cc-by)
Funders: Wellcome Trust/MRC Joint Call in Neurodegeneration (WT089698)
Topics: Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Keywords: TREM2, compound heterozygosity, frontotemporal dementia, Nasu-Hakola disease, familial dementia, bone cysts, Turkish families
MeSH terms: Adult, Female, Heterozygote, Humans, Lipodystrophy, Magnetic Resonance Imaging, Male, Membrane Glycoproteins, Mutation, Osteochondrodysplasias, Phenotype, Receptors, Immunologic, Subacute Sclerosing Panencephalitis, Tomography, X-Ray Computed, Turkey, Frontotemporal Dementia

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

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