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Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family
Guerreiro R, Bilgic B, Guven G, Brás J, Rohrer J, Lohmann E, Hanagasi H, Gurvit H et al.. Neurobiology of aging, 2013-07-17
Topic: Brain proteins, microglia and lab models
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.
Key findings
- 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.
Why it matters
TREM2 mutations were already known to cause Nasu-Hakola disease, an early-onset dementia preceded by bone cysts and fractures, and had recently been reported in frontotemporal dementia without bone problems. This 2013 report describes one Turkish family with a frontotemporal dementia-like illness carrying two different TREM2 mutations (compound heterozygous), which the authors call the first such case and say "further confirm[s]" the TREM2 link to FTD-like illness. The stored abstract does not name the mutations or say how many relatives were affected, and it does not concern Alzheimer's disease or any treatment.
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Study details
- Evidence strengthLow
How this study scored 50/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neurobiology of aging) |
| Journal's citation record | 3 / 4 | Neurobiology of Aging: journal h-index 263 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2013 — within 20 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 5 / 7 | Cited 159 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 10.6 citations a year over 15 year(s) since 2013 |
| Impact for its field and year | 3 / 6 | Cited 5.0× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 4 / 6 | Cited by 36 other studies in this library |
| Still being cited | 2 / 4 | Cited 16 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Murat Emre: h-index 55 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | University College London: institution h-index 2,029 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 6 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 23870839) |
| Free to read | 2 / 2 | Free to read |
| Total | 50 / 100 | — |
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Read the original
- DOI: 10.1016/j.neurobiolaging.2013.06.005
- PubMed: 23870839
- Original source →
- Free full text: Neurobiology of Aging →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
APA 7th
Guerreiro, R., Bilgic, B., Guven, G., Brás, J., Rohrer, J., Lohmann, E., et al. (2013). Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family. Neurobiology of aging. https://doi.org/10.1016/j.neurobiolaging.2013.06.005
Vancouver
Guerreiro R, Bilgic B, Guven G, Brás J, Rohrer J, Lohmann E, et al. Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family. Neurobiology of aging. 2013. doi:10.1016/j.neurobiolaging.2013.06.005. PMID: 23870839.
BibTeX
@article{guerreiro2013-23870839,
author = {Guerreiro, R. and Bilgic, B. and Guven, G. and Brás, J. and Rohrer, J. and Lohmann, E. and Hanagasi, H. and Gurvit, H. and others},
title = {{Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family}},
journal = {Neurobiology of aging},
year = {2013},
doi = {10.1016/j.neurobiolaging.2013.06.005},
pmid = {23870839},
url = {https://doi.org/10.1016/j.neurobiolaging.2013.06.005}
}
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