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The brain in Down syndrome
Seidl R, Cairns N, Lubec G.. Journal of neural transmission. Supplementum, 2001-01-01
Topic: Brain proteins, microglia and lab models
Down syndrome (trisomy 21) is a genetic disease with developmental brain abnormalities resulting in early mental retardation and precocious, age dependent Alzheimer-type neurodegeneration. We tried to discuss the role of neurodevelopmental abnormalities in connection with aberrant expression of genes on chromosome 21 including amyloid precursor protein (APP), CuZn superoxide dismutase (SOD1) and glial-derived S100 beta protein for neurodegeneration in DS. In this model, alterations in developmental pathways due to aberrant gene expression can impair cellular homeostasis and predispose to neurodegeneration of certain brain regions and types of nerve cells, involving cholinergic, serotonergic and catecholaminergic transmission, by shifting balance toward a pro-apoptotic state.
Key findings
- Down syndrome (trisomy 21) is a genetic disease with developmental brain abnormalities resulting in early mental retardation and precocious, age dependent Alzheimer-type neurodegeneration.
- We tried to discuss the role of neurodevelopmental abnormalities in connection with aberrant expression of genes on chromosome 21 including amyloid precursor protein (APP), CuZn superoxide dismutase (SOD1) and glial-derived S100 beta protein for neurodegeneration in DS.
- In this model, alterations in developmental pathways due to aberrant gene expression can impair cellular homeostasis and predispose to neurodegeneration of certain brain regions and types of nerve cells, involving cholinergic, serotonergic and catecholaminergic transmission, by shifting balance toward a pro-apoptotic state.
Why it matters
This review discusses how developmental brain abnormalities in Down syndrome, together with aberrant expression of genes on chromosome 21 including APP, SOD1, and S100 beta, may predispose certain brain regions and nerve cell types to age-dependent Alzheimer-type neurodegeneration. It presents a model involving cholinergic, serotonergic, and catecholaminergic transmission shifting toward a pro-apoptotic state, but offers no treatment or prevention.
Study details
- Evidence strengthLow
How this study scored 34/100
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. We have no data on journal's citation record, so that was left out: it earned 33 of the 96 points we could judge it on, which is 34 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Journal of neural transmission. Supplementum) |
| 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 | 2001 — older than 20 years, still counted |
| 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 | 3 / 7 | Cited 21 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.8 citations a year over 27 year(s) since 2001 |
| Impact for its field and year | 3 / 6 | Cited 5.4× 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 | 0 / 4 | Cited 0 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Gert Lübec: h-index 70 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | King's College London: institution h-index 1,348 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 11771748) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 33 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 33 of the 96 points we could judge it on is 34 out of 100. |
| Total | 34 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
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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. Check the citation against the original before you use it.
APA 7th
Seidl, R., Cairns, N., & Lubec, G. (2001). The brain in Down syndrome. Journal of neural transmission. Supplementum. https://doi.org/10.1007/978-3-7091-6262-0_20
Vancouver
Seidl R, Cairns N, Lubec G. The brain in Down syndrome. Journal of neural transmission. Supplementum. 2001. doi:10.1007/978-3-7091-6262-0_20. PMID: 11771748.
BibTeX
@article{seidl2001-11771748,
author = {Seidl, R. and Cairns, N. and Lubec, G.},
title = {{The brain in Down syndrome}},
journal = {Journal of neural transmission. Supplementum},
year = {2001},
doi = {10.1007/978-3-7091-6262-0_20},
pmid = {11771748},
url = {https://doi.org/10.1007/978-3-7091-6262-0_20}
}
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Later studies that cite this one
2 studies in the alzhub library list this one in their references.