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49/100

✓ Peer-reviewed alzhub usefulness score 49 out of 100. Getting a diagnosis

Topic: Brain proteins, microglia and lab models

Plain-language summary

Background Genetic frontotemporal dementia (FTD) along with Alzheimer's disease (AD), is one of the most prevalent early-onset dementias. The differential diagnosis of FTD from primary psychiatric disorder (PPD) has been challenging due to significant symptom overlap, particular as FTD often presents with prolonged psychiatric prodromes. Objective This study aims to evaluate whether blood-based neurofilament light chain (NfL) can differentiate genetic FTD from PPD, and to determine a global clinical cutoff to differentiate genetic FTD carriers from PPD with high specificity and sensitivity. Methods Data (ages 40–81) were obtained from FTD mutation carriers (GENFI; n = 474; n = 120 C9orf72, n = 114 GRN, n = 50 MAPT , n = 190 controls), and PPD (Biobanque Signature; n = 848). Blood-based NfL was measured with SIMOA HD-X (BbS) and SIMOA HD-1 (GENFI). Results Blood-based NfL was higher in all symptomatic mutations compared to PPD. Mildly symptomatic (0 < FTLD CDR-SOB-NM < 4) C9orf72 and GRN carriers also had higher NfL. ROC curve revealed an optimal blood-based NfL cutoff of 22.1 pg/mL ( J = 0.647) to distinguish symptomatic genetic FTD from PPD (78.5% sensitivity, 86.2% specificity, AUC = 0.908). For mildly symptomatic subjects, a cutoff of 16.2 pg/mL ( J = 0.601) differentiated groups with 86.7% sensitivity and 73.5% specificity (AUC = 0.870). Conclusions NfL holds potential as a blood-based biomarker for symptomatic genetic FTD carriers, with moderate accuracy to distinguish PPD from mild forms including C9orf72 .

What this study adds

Evidence grade: Low

The record lists 474 participants. Blood levels of neurofilament light chain were higher in people with genetic frontotemporal dementia than in those with primary psychiatric disorders, and a cutoff value could distinguish the two groups with reasonable accuracy. Reported effect size: 78.5%; 86.2%; AUC = 0.908.

Taken from this record’s own fields, not from reading the paper. The grade is assigned from the abstract’s wording; what that means.

Cite this study APA, Vancouver, BibTeX · download .bib or .ris

APA 7th

Liu, E., Jones, S. L., Light, V. A., Teunissen, C. E., Bouzigues, A., Russell, L. L., et al. (2025). Accuracy of blood-based neurofilament light to different genetic frontotemporal dementia from primary psychiatric disorders. Journal of Alzheimer s Disease. https://doi.org/10.1177/13872877251352103

Vancouver

Liu E, Jones SL, Light VA, Teunissen CE, Bouzigues A, Russell LL, et al. Accuracy of blood-based neurofilament light to different genetic frontotemporal dementia from primary psychiatric disorders. Journal of Alzheimer s Disease. 2025. doi:10.1177/13872877251352103. PMID: 40605462.

BibTeX

@article{liu2025-40605462,
  author  = {Liu, Ella and Jones, Sherri Lee and Light, Victoria A. and Teunissen, Charlotte Elisabeth and Bouzigues, Arabella and Russell, Lucy Louise and Foster, Phoebe H. and Ferry‐Bolder, Eve and others},
  title   = {{Accuracy of blood-based neurofilament light to different genetic frontotemporal dementia from primary psychiatric disorders}},
  journal = {Journal of Alzheimer s Disease},
  year    = {2025},
  doi     = {10.1177/13872877251352103},
  pmid    = {40605462},
  url     = {https://doi.org/10.1177/13872877251352103}
}

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How to read this study

Design: our record does not state a study design, so check the methods section of the original before weighing the result.
Size: the record lists 474 participants. Ask whether that is enough for the question, and who they were.
Effect: the record reports “78.5%; 86.2%; AUC = 0.908”. A statistically significant result can still be small in daily life.

What the evidence grade means here

This page is graded low. alzhub.org assigns the grade automatically from keywords in the abstract, not from reading the paper. Low means the abstract matched neither pattern. It is the default label, and it does not mean the work is poor; many sound lab and imaging papers land here. It can add at most 5 of the 100 points in the study score, and it is a label about design, not a verdict on whether the findings are true.

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Key findings

The differential diagnosis of FTD from primary psychiatric disorder (PPD) has been challenging due to significant symptom overlap, particular as FTD often presents with prolonged psychiatric prodromes.
Results Blood-based NfL was higher in all symptomatic mutations compared to PPD.
ROC curve revealed an optimal blood-based NfL cutoff of 22.1 pg/mL ( J = 0.647) to distinguish symptomatic genetic FTD from PPD (78.5% sensitivity, 86.2% specificity, AUC = 0.908).

Why it matters

Blood levels of neurofilament light chain were higher in people with genetic frontotemporal dementia than in those with primary psychiatric disorders, and a cutoff value could distinguish the two groups with reasonable accuracy. This may improve diagnosis, but it does not address treating, curing, or preventing Alzheimer's disease.

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Study details

Participants474
Effect size78.5%; 86.2%; AUC = 0.908
Evidence strengthLow

How this study scored 49/100

Published in a peer-reviewed journal. Scored zero for study design and randomized / blinded because the record does not state it. We have no data on senior author's track record, so that was left out: it earned 47 of the 96 points we could judge it on, which is 49 out of 100.

Component	Points	Why
Journal tier	7 / 10	Tier 3 — peer-reviewed journal (Journal of Alzheimer s Disease)
Journal's citation record	2 / 4	Journal of Alzheimer s Disease: journal h-index 218 (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	2 / 4	474 participants
Effect reported	3 / 3	Effect reported with a statistic (interval, p-value, ratio or similar)
Studied in people	3 / 3	Studied in people (participant count stated)
Randomized / blinded	0 / 2	No randomization or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	1 / 7	Cited 3 times (OpenAlex, 2026-10-10)
Citations per year	1 / 5	1.0 citations a year over 3 year(s) since 2025
Impact for its field and year	2 / 6	Cited 1.9× 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	1 / 4	Cited 3 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	— / 4	Senior author's record not available — left out of this score
Institution's track record	2 / 3	University of Oxford: institution h-index 2,205 (OpenAlex)
Multicenter collaboration	3 / 3	OpenAlex lists 45 institution(s) in 10 countries
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 40605462)
Free to read	2 / 2	Free to read
Points	47 / 96	Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 47 of the 96 points we could judge it on is 49 out of 100.
Total	49 / 100	—

What each of these 20 components measures, and what this score is not →

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