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Recent advances in the genetics of frontotemporal dementia
Sirkis DW, Geier EG, Bonham LW, Karch CM, Yokoyama JS.. Current genetic medicine reports, 2019-01-30
Topic: Risk, prevention and care in population studies
Purpose of review In this review we highlight recent advances in the human genetics of frontotemporal dementia (FTD). In addition to providing a broad survey of genes implicated in FTD in the last several years, we also discuss variation in genes implicated in both hereditary leukodystrophies and risk for FTD (e.g., TREM2 , TMEM106B , CSF1R , AARS2 , NOTCH3 ). Recent findings Over the past five years, genetic variation in approximately 50 genes has been confirmed or suggested to cause or influence risk for FTD and FTD-spectrum disorders.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Sirkis, D. W., Geier, E. G., Bonham, L. W., Karch, C. M., & Yokoyama, J. S. (2019). Recent advances in the genetics of frontotemporal dementia. Current genetic medicine reports. https://doi.org/10.1007/s40142-019-0160-6
Vancouver
Sirkis DW, Geier EG, Bonham LW, Karch CM, Yokoyama JS. Recent advances in the genetics of frontotemporal dementia. Current genetic medicine reports. 2019. doi:10.1007/s40142-019-0160-6. PMID: 31687268.
BibTeX
@article{sirkis2019-31687268,
author = {Sirkis, D. W. and Geier, E. G. and Bonham, L. W. and Karch, C. M. and Yokoyama, J. S.},
title = {{Recent advances in the genetics of frontotemporal dementia}},
journal = {Current genetic medicine reports},
year = {2019},
doi = {10.1007/s40142-019-0160-6},
pmid = {31687268},
url = {https://doi.org/10.1007/s40142-019-0160-6}
}
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Key findings
- In addition to providing a broad survey of genes implicated in FTD in the last several years, we also discuss variation in genes implicated in both hereditary leukodystrophies and risk for FTD (e.g., TREM2 , TMEM106B , CSF1R , AARS2 , NOTCH3 ).
- Recent findings Over the past five years, genetic variation in approximately 50 genes has been confirmed or suggested to cause or influence risk for FTD and FTD-spectrum disorders.
- We first give background and discuss recent findings related to C9ORF72 , GRN and MAPT , the genes most commonly implicated in FTD.
- We then provide a broad overview of other FTD-associated genes and go on to discuss new findings in FTD genetics in East Asian populations, including pathogenic variation in CHCHD10 , which may represent a frequent cause of disease in Chinese populations.
Why it matters
This review surveys genetic variation in roughly 50 genes confirmed or suggested to cause or influence risk for frontotemporal dementia, including TREM2. It is about genetics and risk, not about treating, curing or preventing Alzheimer's disease.
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Study details
- Evidence strengthLow
How this study scored 39/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Current genetic medicine reports) |
| Journal's citation record | 0 / 4 | Current Genetic Medicine Reports: journal h-index 34 (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 | 2 / 5 | 2019 — within 10 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) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 4 / 7 | Cited 69 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 7.7 citations a year over 9 year(s) since 2019 |
| Impact for its field and year | 3 / 6 | Cited 4.9× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 1 / 6 | Cited by 2 other studies in this library |
| Still being cited | 2 / 4 | Cited 26 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Jennifer S. Yokoyama: h-index 49 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Washington University in St. Louis: institution h-index 1,962 (OpenAlex) |
| Multicenter collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 31687268) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 39 / 100 | — |
What each of these 20 components measures, and what this score is not →
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