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Down syndrome
Takashima S.. Current opinion in neurology, 1997-04-01
Topic: Risk, prevention and care in population studies
Down syndrome, trisomy of chromosome 21, is well investigated because it is a genetic disease with characteristic mental retardation and precocious dementia of Alzheimer type. Maternal serum markers of human chorionic gonadotrophin unconjugated estriol and amyloid precursor protein, nuchal skinfold on ultrasound and new genetic probes are developed to allow better detection of Down syndrome. The overproduction of A beta 42 because of excessive genes is thought to be a leading factor for early onset of dementia in Down syndrome adults. Animal models and transgenic mice may be helpful in determining the specific gene and pathogenesis for mental retardation and precocious dementia.
Key findings
- Down syndrome, trisomy of chromosome 21, is well investigated because it is a genetic disease with characteristic mental retardation and precocious dementia of Alzheimer type.
- Maternal serum markers of human chorionic gonadotrophin unconjugated estriol and amyloid precursor protein, nuchal skinfold on ultrasound and new genetic probes are developed to allow better detection of Down syndrome.
- The overproduction of A beta 42 because of excessive genes is thought to be a leading factor for early onset of dementia in Down syndrome adults.
- Animal models and transgenic mice may be helpful in determining the specific gene and pathogenesis for mental retardation and precocious dementia.
Why it matters
This review notes that overproduction of Aβ42 due to extra copies of genes is thought to be a leading factor in early dementia in adults with Down syndrome, and that animal models may help identify relevant genes. It reports no treatment, cure or prevention for Alzheimer's disease.
Study details
- Evidence strengthLow
How this study scored 31/100
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.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Current opinion in neurology) |
| Journal's citation record | 2 / 4 | Current Opinion in Neurology: journal h-index 165 (OpenAlex, 2026-10-29) |
| 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 | 1997 — 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 | 2 / 7 | Cited 14 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.5 citations a year over 31 year(s) since 1997 |
| Impact for its field and year | 2 / 6 | Cited 2.2× 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 Sachio Takashima: h-index 56 (OpenAlex, whole career) |
| Institution's track record | 0 / 3 | National Center of Neurology and Psychiatry: institution h-index 356 (OpenAlex) |
| Multi-centre collaboration | 0 / 3 | OpenAlex lists 1 institution(s) in 1 country — scores zero (affiliation lists can be incomplete) |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 9146996) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 31 / 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
Takashima, S. (1997). Down syndrome. Current opinion in neurology. https://doi.org/10.1097/00019052-199704000-00013
Vancouver
Takashima S. Down syndrome. Current opinion in neurology. 1997. doi:10.1097/00019052-199704000-00013. PMID: 9146996.
BibTeX
@article{takashima1997-9146996,
author = {Takashima, S.},
title = {{Down syndrome}},
journal = {Current opinion in neurology},
year = {1997},
doi = {10.1097/00019052-199704000-00013},
pmid = {9146996},
url = {https://doi.org/10.1097/00019052-199704000-00013}
}
Later studies that cite this one
2 studies in the alzhub library list this one in their references.