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Serum Neurofilament Light in Patients with Frontotemporal Dementia Caused by CHMP2B Mutation
Toft A, Roos P, Jääskeläinen O, Musaeus CS, Henriksen EE, Johannsen P, Nielsen TT, Herukka SK et al.. Dementia and geriatric cognitive disorders, 2020-01-01
Topic: Brain proteins, microglia and lab models
Introduction The potential of neurofilament light (NfL) as a blood-based biomarker is currently being investigated in autosomal dominant neurodegenerative disease. This study explores the clinical utility of serum-NfL in frontotemporal dementia due to CHMP2B mutation (FTD-3). Methods This cross-sectional study included serum and CSF data from 38 members of the Danish FTD-3 family: 12 affected CHMP2B mutation carriers, 10 presymptomatic carriers, and 16 noncarriers. Serum-NfL levels measured by single-molecule array (Simoa) technology were tested for associations with the clinical groups and clinical parameters. Serum and CSF data were compared, and CSF/serum-albumin ratio was included as a measure of blood-brain barrier (BBB) function. Results Serum-NfL concentrations were significantly increased in symptomatic CHMP2B mutation carriers compared to presymptomatic carriers and in both groups compared to healthy family controls. Serum-NfL levels appear to increase progressively with age in presymptomatic carriers, and this is perhaps followed by a change in trajectory when patients become symptomatic. Measurements of NfL in serum and CSF were highly correlated and fold-changes in serum and CSF between clinical groups were similar. Increase in serum-NFL levels was correlated with reduced ACE-score. Higher CSF/serum-albumin ratios were demonstrated in FTD-3 patients, but this did not affect the significant associations between serum-NfL and clinical groups. Conclusion Serum-NfL could be utilized as an accurate surrogate marker of CSF levels to segregate symptomatic CHMP2B carriers, presymptomatic carriers, and non-carriers. The observed indication of BBB dysfunction in FTD-3 patients did not confound this use of serum-NfL. The results support the occurrence of mutation-related differences in NfL dynamics in familial FTD.
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APA 7th
Toft, A., Roos, P., Jääskeläinen, O., Musaeus, C. S., Henriksen, E. E., Johannsen, P., et al. (2020). Serum Neurofilament Light in Patients with Frontotemporal Dementia Caused by CHMP2B Mutation. Dementia and geriatric cognitive disorders. https://doi.org/10.1159/000513877
Vancouver
Toft A, Roos P, Jääskeläinen O, Musaeus CS, Henriksen EE, Johannsen P, et al. Serum Neurofilament Light in Patients with Frontotemporal Dementia Caused by CHMP2B Mutation. Dementia and geriatric cognitive disorders. 2020. doi:10.1159/000513877. PMID: 33626531.
BibTeX
@article{toft2020-33626531,
author = {Toft, A. and Roos, P. and Jääskeläinen, O. and Musaeus, C. S. and Henriksen, E. E. and Johannsen, P. and Nielsen, T. T. and Herukka, S. K. and others},
title = {{Serum Neurofilament Light in Patients with Frontotemporal Dementia Caused by CHMP2B Mutation}},
journal = {Dementia and geriatric cognitive disorders},
year = {2020},
doi = {10.1159/000513877},
pmid = {33626531},
url = {https://doi.org/10.1159/000513877}
}
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Key findings
- Results Serum-NfL concentrations were significantly increased in symptomatic CHMP2B mutation carriers compared to presymptomatic carriers and in both groups compared to healthy family controls.
- Higher CSF/serum-albumin ratios were demonstrated in FTD-3 patients, but this did not affect the significant associations between serum-NfL and clinical groups.
- The results support the occurrence of mutation-related differences in NfL dynamics in familial FTD.
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Study details
- Study designcross-sectional
- Evidence strengthLow
How this study scored 45/100
Published in a peer-reviewed journal, and it is a snapshot of people at one point in time. Scored zero for sample size, effect reported, studied in people and randomized / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record and multicenter collaboration, so those were left out: it earned 26 of the 58 points we could judge it on, which is 45 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Dementia and geriatric cognitive disorders) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 | 2 / 5 | 2020 — 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 | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multicenter collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 33626531) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 26 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 26 of the 58 points we could judge it on is 45 out of 100. |
| Total | 45 / 100 | — |
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