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Fluid biomarkers in familial frontotemporal dementia: progress and prospects
Mengyao Guo, Linyuan Qin, Hanlin Cai, Ruihan Wang, Caimei Luo, Feng Yang, Shiyu Feng, Hui Gao et al.. Frontiers in Neurology, 2025-08-18
Topic: Brain proteins, microglia and lab models
Familial frontotemporal dementia (FTD) is a genetically heterogeneous disease with various clinical manifestations, making it difficult to diagnose. There are three main gene mutations in familial FTD: repeat expansion in chromosome 9 open reading frame 72 ( C9orf72 ), microtubule-associated protein tau ( MAPT ), and progranulin ( GRN ). These mutations can produce corresponding changes in fluid biomarkers years before symptoms appear. Therefore, biomarkers play a vital role in the diagnosis and treatment of familial FTD. In this review, we highlight fluid biomarkers in the blood and cerebrospinal fluid (CSF) that contribute to the clinical diagnosis of familial FTD, the study of disease pathophysiological mechanisms, and possibly be used as outcome endpoints in future clinical trials.
Key findings
- Familial frontotemporal dementia (FTD) is a genetically heterogeneous disease with various clinical manifestations, making it difficult to diagnose.
- There are three main gene mutations in familial FTD: repeat expansion in chromosome 9 open reading frame 72 ( C9orf72 ), microtubule-associated protein tau ( MAPT ), and progranulin ( GRN ).
- These mutations can produce corresponding changes in fluid biomarkers years before symptoms appear.
- Therefore, biomarkers play a vital role in the diagnosis and treatment of familial FTD.
- In this review, we highlight fluid biomarkers in the blood and cerebrospinal fluid (CSF) that contribute to the clinical diagnosis of familial FTD, the study of disease pathophysiological mechanisms, and possibly be used as outcome endpoints in future clinical trials.
Why it matters
This review describes fluid biomarkers in blood and cerebrospinal fluid that may change years before symptoms in familial frontotemporal dementia. Such biomarkers could aid diagnosis and possibly serve as outcome endpoints in future clinical trials, but no treatment, cure or prevention is reported.
Study details
- Evidence strengthLow
How this study scored 32/100
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 (Frontiers in Neurology) |
| Journal's citation record | 2 / 4 | Frontiers in Neurology: journal h-index 162 (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 | 4 / 5 | 2025 — within 3 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 | 1 / 7 | Cited 2 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.7 citations a year over 3 year(s) since 2025 |
| Impact for its field and year | 2 / 6 | Cited 1.1× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 0 / 4 | Cited 2 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 1 / 4 | Last-listed author Qin Chen: h-index 12 (OpenAlex, whole career) |
| Institution's track record | 0 / 3 | West China Hospital of Sichuan University: institution h-index 570 (OpenAlex) |
| Multi-centre collaboration | 0 / 3 | OpenAlex lists 1 institution(s) in 1 country — scores zero (affiliation lists can be incomplete) |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 40901664) |
| Free to read | 2 / 2 | Free to read |
| Total | 32 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.3389/fneur.2025.1663609
- PubMed: 40901664
- Original source →
- Free full text: Frontiers in Neurology →
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
Guo, M., Qin, L., Cai, H., Wang, R., Luo, C., Yang, F., et al. (2025). Fluid biomarkers in familial frontotemporal dementia: progress and prospects. Frontiers in Neurology. https://doi.org/10.3389/fneur.2025.1663609
Vancouver
Guo M, Qin L, Cai H, Wang R, Luo C, Yang F, et al. Fluid biomarkers in familial frontotemporal dementia: progress and prospects. Frontiers in Neurology. 2025. doi:10.3389/fneur.2025.1663609. PMID: 40901664.
BibTeX
@article{guo2025-40901664,
author = {Guo, Mengyao and Qin, Linyuan and Cai, Hanlin and Wang, Ruihan and Luo, Caimei and Yang, Feng and Feng, Shiyu and Gao, Hui and others},
title = {{Fluid biomarkers in familial frontotemporal dementia: progress and prospects}},
journal = {Frontiers in Neurology},
year = {2025},
doi = {10.3389/fneur.2025.1663609},
pmid = {40901664},
url = {https://doi.org/10.3389/fneur.2025.1663609}
}
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