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Down syndrome and Alzheimer disease
Hyman BT.. Progress in clinical and biological research, 1992-01-01
Topic: Amyloid, tau and blood-test diagnosis
The brains of individuals with Down's syndrome in their 40's and 50's begin to develop changes that are otherwise seen only in patients with Alzheimer disease. Neurons develop neurofibrillary tangles, flame-shaped alterations composed mainly of condensed cytoskeletal proteins. Another protein, beta/A4 amyloid, is deposited in large amounts in the form of senile plaques and, around blood vessels, amyloid angiopathy. With increasing age, Down syndrome individuals accumulate more and more of these changes. Different parts of the brain are affected to varying degrees by these two alterations. Surprisingly, the pattern of accumulation of neurofibrillary tangles and senile plaques is characteristic, and follows a predictable pattern. We have characterized this pattern in the hippocampal formation in a group of Down individuals, ages 13-71. Certain specific neurons such as those in layer II of entorhinal cortex and the CA1/subiculum field of the hippocampus are exquisitely vulnerable to tangle formation, and are the first neurons to be affected. Perhaps 20-30 years pass as the disease process evolves from mild to severe pathological changes. One hypothesis for why Down individuals would be predisposed to developing Alzheimer pathology is the observation that the gene that encodes the precursor of the amyloid protein is located on chromosome 21. An extra copy of this gene, such as occurs in Down syndrome, may lead to "overproduction" of amyloid, and ultimately to its accumulation as senile plaques. Experiments to test this hypothesis are now underway.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Hyman, B. T. (1992). Down syndrome and Alzheimer disease. Progress in clinical and biological research.
Vancouver
Hyman BT. Down syndrome and Alzheimer disease. Progress in clinical and biological research. 1992. PMID: 1409740.
BibTeX
@article{hyman1992-1409740,
author = {Hyman, B. T.},
title = {{Down syndrome and Alzheimer disease}},
journal = {Progress in clinical and biological research},
year = {1992},
pmid = {1409740}
}
Built from the record alzhub holds for this paper, not looked up. This record has no DOI, so the citation leaves it out. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
Key findings
- Certain specific neurons such as those in layer II of entorhinal cortex and the CA1/subiculum field of the hippocampus are exquisitely vulnerable to tangle formation, and are the first neurons to be affected.
- Perhaps 20-30 years pass as the disease process evolves from mild to severe pathological changes.
- One hypothesis for why Down individuals would be predisposed to developing Alzheimer pathology is the observation that the gene that encodes the precursor of the amyloid protein is located on chromosome 21.
- An extra copy of this gene, such as occurs in Down syndrome, may lead to "overproduction" of amyloid, and ultimately to its accumulation as senile plaques.
- Experiments to test this hypothesis are now underway.
Why it matters
This paper describes how the brains of people with Down syndrome in their 40s and 50s develop neurofibrillary tangles and beta/A4 amyloid deposits in a predictable pattern, with certain neurons such as those in layer II of entorhinal cortex and the CA1/subiculum being affected first. It proposes that the extra copy of the amyloid precursor protein gene on chromosome 21 may explain the predisposition, but it reports no treatment or cure.
Study details
- Evidence strengthLow
How this study scored 33/100
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 and senior author's track record, so those were left out: it earned 30 of the 92 points we could judge it on, which is 33 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Progress in clinical and biological 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 | 1992 — 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 | 4 / 7 | Cited 89 times (OpenAlex, 2026-10-10) |
| Citations per year | 1 / 5 | 2.5 citations a year over 36 year(s) since 1992 |
| Impact for its field and year | 2 / 6 | Cited 1.0× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 0 / 4 | Cited 1 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | — / 4 | OpenAlex's profile for last-listed author Bradley T. Hyman holds only 6 work(s), too few to judge a track record — left out of this score |
| Institution's track record | 2 / 3 | Massachusetts General Hospital: institution h-index 2,057 (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 1409740) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 30 / 92 | Scored on 18 of 20 parts. We have no data for the rest, so they are left out: 30 of the 92 points we could judge it on is 33 out of 100. |
| Total | 33 / 100 | — |
What each of these 20 components measures, and what this score is not →
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