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Discoveries in Down syndrome: moving basic science to clinical care
Kleschevnikov AM, Belichenko PV, Salehi A, Wu C.. Progress in brain research, 2012-01-01
Topic: Risk, prevention and care in population studies
This review describes recent discoveries in neurobiology of Down syndrome (DS) achieved with use of mouse genetic models and provides an overview of experimental approaches aimed at development of pharmacological restoration of cognitive function in people with this developmental disorder. Changes in structure and function of synaptic connections within the hippocampal formation of DS model mice, as well as alterations in innervations of the hippocampus by noradrenergic and cholinergic neuromodulatory systems, provided important clues for potential pharmacological treatments of cognitive disabilities in DS. Possible molecular and cellular mechanisms underlying this genetic disorder have been addressed. We discuss novel mechanisms engaging misprocessing of amyloid precursor protein (App) and other proteins, through their affect on axonal transport and endosomal dysfunction, to "Alzheimer-type" neurodegenerative processes that affect cognition later in life. In conclusion, a number of therapeutic strategies have been defined that may restore cognitive function in mouse models of DS. In the juvenile and young animals, these strategists focus on restoration of synaptic plasticity, rate of adult neurogenesis, and functions of the neuromodulatory subcortical systems. Later in life, the major focus is on recuperation of misprocessed App and related proteins. It is hoped that the identification of an increasing number of potential targets for pharmacotherapy of cognitive deficits in DS will add to the momentum for creating and completing clinical trials.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Kleschevnikov, A. M., Belichenko, P. V., Salehi, A., & Wu, C. (2012). Discoveries in Down syndrome: moving basic science to clinical care. Progress in brain research. https://doi.org/10.1016/b978-0-444-54299-1.00010-8
Vancouver
Kleschevnikov AM, Belichenko PV, Salehi A, Wu C. Discoveries in Down syndrome: moving basic science to clinical care. Progress in brain research. 2012. doi:10.1016/b978-0-444-54299-1.00010-8. PMID: 22541294.
BibTeX
@article{kleschevnikov2012-22541294,
author = {Kleschevnikov, A. M. and Belichenko, P. V. and Salehi, A. and Wu, C.},
title = {{Discoveries in Down syndrome: moving basic science to clinical care}},
journal = {Progress in brain research},
year = {2012},
doi = {10.1016/b978-0-444-54299-1.00010-8},
pmid = {22541294},
url = {https://doi.org/10.1016/b978-0-444-54299-1.00010-8}
}
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Key findings
- In conclusion, a number of therapeutic strategies have been defined that may restore cognitive function in mouse models of DS.
Why it matters
This review describes therapeutic strategies tested in mouse models of Down syndrome that may restore cognitive function, focusing on synaptic plasticity and amyloid processing. The findings are from animal models, so it is not yet known whether these strategies work in people.
Study details
- Evidence strengthLow
How this study scored 40/100
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 38 of the 96 points we could judge it on, which is 40 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Progress in brain research) |
| 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 | 2012 — within 20 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 | 3 / 7 | Cited 29 times (OpenAlex, 2026-10-10) |
| Citations per year | 1 / 5 | 1.8 citations a year over 16 year(s) since 2012 |
| Impact for its field and year | 4 / 6 | Cited 11.2× 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 4 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Chengbiao Wu: h-index 38 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | Stanford University: institution h-index 2,684 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 4 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 22541294) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 38 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 38 of the 96 points we could judge it on is 40 out of 100. |
| Total | 40 / 100 | — |
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Also tagged “down”
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