A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family
Open accessAbstract
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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Further TREM2 variants such as R62H, H157Y, Q33X, T66M and Y38C are risk factors of Alzheimer's disease or other CNS diseases.
“In addition to the R47H variant, further TREM2 variants have been revealed to be risk factors of AD or other CNS diseases, such as R62H (8,20), H157Y (25), Q33X, T66M and Y38C (26,27).”
From <i>Trem2</i> promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions (2020) · cites this paper as [26]
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Self-citation
- 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
- Venue
- Neurobiology of Aging
- Publisher
- Elsevier BV
- Published
- 2013-12
- Volume
- 34
- Issue
- 12
- Pages
- 2890.e1-2890.e5
- ISSN
- 0197-4580 (ISSN-L)
- 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
- 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
- Health Sciences › Medicine › Physiology › 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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