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Molecular mapping of Alzheimer-type dementia in Down's syndrome
Prasher VP, Farrer MJ, Kessling AM, Fisher EM, West RJ, Barber PC, Butler AC.. Annals of neurology, 1998-03-01
Topic: Amyloid, tau and blood-test diagnosis
Previous research has hypothesized an association between Alzheimer's disease and the amyloid precursor protein (APP) gene found on chromosome 21. We report the case of a 78-year-old woman with Down's syndrome with partial trisomy 21 [46,XX,rec(21)dup q, inv(21) (p12q22.1)]. No evidence of Alzheimer's disease was found on neuropsychological, magnetic resonance imaging, and neuropathological assessment.
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APA 7th
Prasher, V. P., Farrer, M. J., Kessling, A. M., Fisher, E. M., West, R. J., Barber, P. C., et al. (1998). Molecular mapping of Alzheimer-type dementia in Down's syndrome. Annals of neurology. https://doi.org/10.1002/ana.410430316
Vancouver
Prasher VP, Farrer MJ, Kessling AM, Fisher EM, West RJ, Barber PC, et al. Molecular mapping of Alzheimer-type dementia in Down's syndrome. Annals of neurology. 1998. doi:10.1002/ana.410430316. PMID: 9506555.
BibTeX
@article{prasher1998-9506555,
author = {Prasher, V. P. and Farrer, M. J. and Kessling, A. M. and Fisher, E. M. and West, R. J. and Barber, P. C. and Butler, A. C.},
title = {{Molecular mapping of Alzheimer-type dementia in Down's syndrome}},
journal = {Annals of neurology},
year = {1998},
doi = {10.1002/ana.410430316},
pmid = {9506555},
url = {https://doi.org/10.1002/ana.410430316}
}
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 names 7 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
Key findings
- We report the case of a 78-year-old woman with Down's syndrome with partial trisomy 21 [46,XX,rec(21)dup q, inv(21) (p12q22.1)].
- No evidence of Alzheimer's disease was found on neuropsychological, magnetic resonance imaging, and neuropathological assessment.
- The gene sequence for APP was present in only two copies.
- This case further supports the hypothesis that Alzheimer's disease is associated with trisomy for proximal chromosome 21q, including the APP gene.
Why it matters
A 78-year-old woman with Down's syndrome who had only two copies of the APP gene showed no evidence of Alzheimer's disease on psychological, imaging and brain tissue tests. This single case supports the idea that having an extra copy of a region of chromosome 21 that includes APP is linked to Alzheimer's disease.
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Study details
- Evidence strengthLow
How this study scored 54/100
Published in a leading specialty journal. Scored zero for study design, sample size, effect reported and randomized / blinded because the record does not state it. We have no data on senior author's track record, so that was left out: it earned 52 of the 96 points we could judge it on, which is 54 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Annals of neurology) |
| Journal's citation record | 3 / 4 | Annals of Neurology: journal h-index 437 (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 | 1998 — 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 | 3 / 3 | Studied in people (pubmed indexes it as a clinical or observational study) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 6 / 7 | Cited 417 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 13.9 citations a year over 30 year(s) since 1998 |
| Impact for its field and year | 3 / 6 | Cited 6.8× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 4 / 6 | Cited by 43 other studies in this library |
| Still being cited | 3 / 4 | Cited 63 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | — / 4 | OpenAlex's profile for last-listed author Alain Butler holds only 5 work(s), too few to judge a track record — left out of this score |
| Institution's track record | 2 / 3 | Imperial College London: institution h-index 1,744 (OpenAlex) |
| Multicenter collaboration | 2 / 3 | OpenAlex lists 5 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 9506555) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 52 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 52 of the 96 points we could judge it on is 54 out of 100. |
| Total | 54 / 100 | — |
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