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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“…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).”
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Additional file 7 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
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Additional file 6 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
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Additional file 5 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
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Additional file 8 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160930
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Additional file 1 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160909
Additional file 4 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160918
Additional file 10 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160897
Additional file 5 of A comprehensive analysis of copy number variation in a Turkish dementia cohort
Dehghani, N., Güven, G., Kun‐Rodrigues, C., Gouveia, C., Foster, K., Hanagasi, H., Lohmann, E., Samancı, B., Gurvit, H. I., Bilgiç, B., et al. (2021) · Figshare · doi:10.6084/m9.figshare.15071686
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Additional file 2 of A comprehensive analysis of copy number variation in a Turkish dementia cohort
Dehghani, N., Güven, G., Kun‐Rodrigues, C., Gouveia, C., Foster, K., Hanagasi, H., Lohmann, E., Samancı, B., Gurvit, H. I., Bilgiç, B., et al. (2021) · Figshare · doi:10.6084/m9.figshare.15071677
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Additional file 11 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160900
Additional file 1 of A comprehensive analysis of copy number variation in a Turkish dementia cohort
Dehghani, N., Güven, G., Kun‐Rodrigues, C., Gouveia, C., Foster, K., Hanagasi, H., Lohmann, E., Samancı, B., Gurvit, H. I., Bilgiç, B., et al. (2021) · Figshare · doi:10.6084/m9.figshare.15071674
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Additional file 2 of TREM2 modulates differential deposition of modified and non-modified Aβ species in extracellular plaques and intraneuronal deposits
Joshi, P., Riffel, F., Kumar, S., Villacampa, N., Theil, S., Parhizkar, S., Haass, C., Colonna, M., Heneka, M. T., Arzberger, T., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16829558
Additional file 5 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612543
Additional file 10 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612558
Additional file 3 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160915
Additional file 17 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612582
Additional file 7 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612549
Additional file 3 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612537
Additional file 16 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612579
Additional file 18 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612585
Additional file 2 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160912
Additional file 12 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612564
Additional file 6 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612546
Additional file 2 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612534
Additional file 9 of Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice
Jadhav, V., Lin, P. B., Pennington, T., Prisco, G. V. D., Jannu, A. J., Xu, G., Moutinho, M., Zhang, J., Atwood, B. K., Puntambekar, S. S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13160933
Additional file 9 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612555
Additional file 14 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612570
Additional file 3 of A comprehensive analysis of copy number variation in a Turkish dementia cohort
Dehghani, N., Güven, G., Kun‐Rodrigues, C., Gouveia, C., Foster, K., Hanagasi, H., Lohmann, E., Samancı, B., Gurvit, H. I., Bilgiç, B., et al. (2021) · Figshare · doi:10.6084/m9.figshare.15071680
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Additional file 4 of A comprehensive analysis of copy number variation in a Turkish dementia cohort
Dehghani, N., Güven, G., Kun‐Rodrigues, C., Gouveia, C., Foster, K., Hanagasi, H., Lohmann, E., Samancı, B., Gurvit, H. I., Bilgiç, B., et al. (2021) · Figshare · doi:10.6084/m9.figshare.15071683
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Additional file 1 of TREM2 modulates differential deposition of modified and non-modified Aβ species in extracellular plaques and intraneuronal deposits
Joshi, P., Riffel, F., Kumar, S., Villacampa, N., Theil, S., Parhizkar, S., Haass, C., Colonna, M., Heneka, M. T., Arzberger, T., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16829555
Additional file 13 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612567
Additional file 15 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612573
Additional file 4 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612540
Additional file 8 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612552
Additional file 6 of A comprehensive analysis of copy number variation in a Turkish dementia cohort
Dehghani, N., Güven, G., Kun‐Rodrigues, C., Gouveia, C., Foster, K., Hanagasi, H., Lohmann, E., Samancı, B., Gurvit, H. I., Bilgiç, B., et al. (2021) · Figshare · doi:10.6084/m9.figshare.15071689
Self-citation
Additional file 11 of A Trem2R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., Cunha, C. D., Phan, J., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22612561
Uncovering the biological mechanisms of TREM2 with molecular simulations: A comprehensive review and perspective
Lietzke, E. E., Saeb, D., Aldrich, E. C., de Menezes, R. F., Bruce, K. D., & Sprenger, K. G. (2026) · Progress in Biophysics and Molecular Biology · doi:10.1016/j.pbiomolbio.2026.06.002 · Cited by 1

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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