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Association of plasma neurofilament light chain with microstructural white matter changes in Down syndrome
Rosas HD, Mercaldo ND, Hasimoglu Y, Petersen M, Lewis LR, Lai F, Powell D, Dhungana A et al.. Alzheimer's & dementia (Amsterdam, Netherlands), 2024-10-01
Topic: Brain proteins, microglia and lab models
Introduction Both micro- and macrostructural white matter (WM) abnormalities, particularly those related to axonal degeneration, are associated with cognitive decline in adults with Down syndrome (DS) prior to a diagnosis of Alzheimer disease. Neurofilament light chain (NfL) is a support protein within myelinated axons released into blood following axonal damage. In this study we investigated cross-sectional relationships between WM microstructural changes as measured by diffusion tensor imaging (DTI) and plasma NfL concentration in adults with DS without dementia. Methods Thirty cognitively stable (CS) adults with DS underwent diffusion-weighted MRI scanning and plasma NfL measurement. DTI measures of select WM tracts were derived using automatic fiber tracking, and associations with plasma NfL were assessed using Spearman correlation coefficients. Results Higher Plasma NfL was associated with greater altered diffusion measures of select tracts. Discussion Early increases in plasma NfL may reflect early white matter microstructural changes prior to dementia in DS. Highlights The onset of such WM changes in DS has not yet been widely studied.WM microstructural properties correlated with plasma neurofilament light chain (NfL).NfL may reflect early, selective WM changes in adults with DS at high risk of developing AD.
Key findings
- Introduction Both micro- and macrostructural white matter (WM) abnormalities, particularly those related to axonal degeneration, are associated with cognitive decline in adults with Down syndrome (DS) prior to a diagnosis of Alzheimer disease.
- Results Higher Plasma NfL was associated with greater altered diffusion measures of select tracts.
Why it matters
In 30 adults with Down syndrome without dementia, higher plasma neurofilament light chain was associated with altered diffusion measures in selected white matter tracts. The authors suggest plasma NfL may reflect early white matter changes before dementia, but this cross-sectional study does not test treatment or prevention.
Study details
- Study designcross-sectional
- Evidence strengthLow
How this study scored 48/100
Published in a leading specialty journal, and it is a snapshot of people at one point in time. Scored zero for sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Alzheimer's & dementia (Amsterdam, Netherlands)) |
| Journal's citation record | 1 / 4 | Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring: journal h-index 86 (OpenAlex, 2026-10-29) |
| Study design | 4 / 12 | A snapshot of people at one point in time |
| 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 | 2024 — 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 | 2 / 7 | Cited 5 times (OpenAlex, 2026-10-10) |
| Citations per year | 1 / 5 | 1.2 citations a year over 4 year(s) since 2024 |
| 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 1 other studies in this library |
| Still being cited | 1 / 4 | Cited 5 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Sid E. O’Bryant: h-index 63 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | Harvard University: institution h-index 3,235 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 6 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 39583646) |
| Free to read | 2 / 2 | Free to read |
| Total | 48 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1002/dad2.70023
- PubMed: 39583646
- Original source →
- Free full text: Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring →
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
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APA 7th
Rosas, H. D., Mercaldo, N. D., Hasimoglu, Y., Petersen, M., Lewis, L. R., Lai, F., et al. (2024). Association of plasma neurofilament light chain with microstructural white matter changes in Down syndrome. Alzheimer's & dementia (Amsterdam, Netherlands). https://doi.org/10.1002/dad2.70023
Vancouver
Rosas HD, Mercaldo ND, Hasimoglu Y, Petersen M, Lewis LR, Lai F, et al. Association of plasma neurofilament light chain with microstructural white matter changes in Down syndrome. Alzheimer's & dementia (Amsterdam, Netherlands). 2024. doi:10.1002/dad2.70023. PMID: 39583646.
BibTeX
@article{rosas2024-39583646,
author = {Rosas, H. D. and Mercaldo, N. D. and Hasimoglu, Y. and Petersen, M. and Lewis, L. R. and Lai, F. and Powell, D. and Dhungana, A. and others},
title = {{Association of plasma neurofilament light chain with microstructural white matter changes in Down syndrome}},
journal = {Alzheimer's \& dementia (Amsterdam, Netherlands)},
year = {2024},
doi = {10.1002/dad2.70023},
pmid = {39583646},
url = {https://doi.org/10.1002/dad2.70023}
}
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