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Exploring Alzheimer molecular pathology in Down's syndrome cerebrospinal fluid
Portelius E, Soininen H, Andreasson U, Zetterberg H, Persson R, Karlsson G, Blennow K, Herukka SK et al.. Neuro-degenerative diseases, 2014-06-27
Topic: Amyloid, tau and blood-test diagnosis
Background Individuals with Down's syndrome (DS) develop early Alzheimer's disease (AD) with β-amyloid (Aβ) plaque pathology. The extra amyloid precursor protein (APP) gene copy in DS is believed to result in a 50% increase in Aβ production, but it is unclear how this relates to the development of other AD hallmarks, including axonal degeneration and microglia cell activation, and to other neurological problems in DS, including disturbed sleep regulation. Objective To evaluate if cerebrospinal fluid (CSF) biomarkers for cerebral amyloidosis, axonal degeneration, microglial activation and sleep regulation were altered in young and old patients with DS, and if these biomarkers were related to altered Aβ and APP metabolism, reflected by CSF levels of different Aβ and APP peptides.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Portelius, E., Soininen, H., Andreasson, U., Zetterberg, H., Persson, R., Karlsson, G., et al. (2014). Exploring Alzheimer molecular pathology in Down's syndrome cerebrospinal fluid. Neuro-degenerative diseases. https://doi.org/10.1159/000358800
Vancouver
Portelius E, Soininen H, Andreasson U, Zetterberg H, Persson R, Karlsson G, et al. Exploring Alzheimer molecular pathology in Down's syndrome cerebrospinal fluid. Neuro-degenerative diseases. 2014. doi:10.1159/000358800. PMID: 24992945.
BibTeX
@article{portelius2014-24992945,
author = {Portelius, E. and Soininen, H. and Andreasson, U. and Zetterberg, H. and Persson, R. and Karlsson, G. and Blennow, K. and Herukka, S. K. and others},
title = {{Exploring Alzheimer molecular pathology in Down's syndrome cerebrospinal fluid}},
journal = {Neuro-degenerative diseases},
year = {2014},
doi = {10.1159/000358800},
pmid = {24992945},
url = {https://doi.org/10.1159/000358800}
}
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.
Key findings
- The extra amyloid precursor protein (APP) gene copy in DS is believed to result in a 50% increase in Aβ production, but it is unclear how this relates to the development of other AD hallmarks, including axonal degeneration and microglia cell activation, and to other neurological problems in DS, including disturbed sleep regulation.
- Objective To evaluate if cerebrospinal fluid (CSF) biomarkers for cerebral amyloidosis, axonal degeneration, microglial activation and sleep regulation were altered in young and old patients with DS, and if these biomarkers were related to altered Aβ and APP metabolism, reflected by CSF levels of different Aβ and APP peptides.
- Methods CSF from DS patients (n=12) and healthy controls (n=20) were analyzed for Aβ peptides (Aβ1-42, AβX-38/40/42), secreted APP species (sAPPα/β), biomarkers for AD-like axonal degeneration [total tau (T-tau), phosphorylated tau], microglial activation (YKL-40, CC chemokine ligand 2) and orexin-A, which is a peptide involved in sleep regulation.
- We compared biomarker levels between groups and tested for relations between biomarkers, disease stage and age.
Why it matters
This study evaluated whether cerebrospinal fluid biomarkers for amyloidosis, axonal degeneration, microglial activation, and sleep regulation were altered in young and old patients with Down's syndrome. It is an observational study of markers in Down's syndrome, not a treatment, cure, or prevention for Alzheimer's disease.
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Study details
- Participants12
- Evidence strengthLow
How this study scored 46/100
Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it. We have no data on journal's citation record, so that was left out: it earned 44 of the 96 points we could judge it on, which is 46 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neuro-degenerative diseases) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 | 1 / 5 | 2014 — within 20 year(s) of the newest study here |
| Sample size | 1 / 4 | 12 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 4 / 7 | Cited 52 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 3.7 citations a year over 14 year(s) since 2014 |
| Impact for its field and year | 2 / 6 | Cited 2.9× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 8 other studies in this library |
| Still being cited | 1 / 4 | Cited 8 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Niklas Mattsson: h-index 109 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | University College London: institution h-index 2,029 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 7 institution(s) in 4 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 24992945) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 44 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 44 of the 96 points we could judge it on is 46 out of 100. |
| Total | 46 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1159/000358800
- PubMed: 24992945
- Original source →
- Free full text: Neurodegenerative Diseases →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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