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Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study
Boerwinkle AH, Gordon BA, Wisch J, Flores S, Henson RL, Butt OH, McKay N, Chen CD et al.. The Lancet. Neurology, 2023-01-01
Topic: Amyloid, tau and blood-test diagnosis
Plain-language summary
Global PET amyloid burden was compared with regards to cognitive status, APOE ɛ4 status, sex, age, and estimated years to symptom onset. PET amyloid centiloid and CSF Aβ42/40 were negatively correlated in carriers of autosomal dominant Alzheimer's disease mutations (n=216; r=-0·565; p Interpretation Despite minor differences, amyloid PET changes were similar between people with autosomal dominant Alzheimer's disease versus Down syndrome and strongly supported early amyloid dysregulation in individuals with Down syndrome.
What this study adds
Evidence grade: Low
This is a cross-sectional study of 216 participants. This cross-sectional study found that amyloid PET changes were similar between people with autosomal dominant Alzheimer's disease and people with Down syndrome, supporting early amyloid dysregulation in Down syndrome. It is a diagnostic imaging study and does not report any treatment, cure, or prevention of Alzheimer's disease.
Taken from this record’s own fields, not from reading the paper. The grade is assigned from the abstract’s wording; what that means.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Boerwinkle, A. H., Gordon, B. A., Wisch, J., Flores, S., Henson, R. L., Butt, O. H., et al. (2023). Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study. The Lancet. Neurology. https://doi.org/10.1016/s1474-4422(22)00408-2
Vancouver
Boerwinkle AH, Gordon BA, Wisch J, Flores S, Henson RL, Butt OH, et al. Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study. The Lancet. Neurology. 2023. doi:10.1016/s1474-4422(22)00408-2. PMID: 36517172.
BibTeX
@article{boerwinkle2023-36517172,
author = {Boerwinkle, A. H. and Gordon, B. A. and Wisch, J. and Flores, S. and Henson, R. L. and Butt, O. H. and McKay, N. and Chen, C. D. and others},
title = {{Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study}},
journal = {The Lancet. Neurology},
year = {2023},
doi = {10.1016/s1474-4422(22)00408-2},
pmid = {36517172},
url = {https://doi.org/10.1016/s1474-4422(22)00408-2}
}
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's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
Key findings
- Global PET amyloid burden was compared with regards to cognitive status, APOE ɛ4 status, sex, age, and estimated years to symptom onset.
- PET amyloid centiloid and CSF Aβ42/40 were negatively correlated in carriers of autosomal dominant Alzheimer's disease mutations (n=216; r=-0·565; p<0·0001) and in people with Down syndrome (n=32; r=-0·801; p<0·0001).
Why it matters
This cross-sectional study found that amyloid PET changes were similar between people with autosomal dominant Alzheimer's disease and people with Down syndrome, supporting early amyloid dysregulation in Down syndrome. It is a diagnostic imaging study and does not report any treatment, cure, or prevention of Alzheimer's disease.
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Study details
- Study designcross-sectional
- Participants216
- Evidence strengthLow
How this study scored 60/100
Published in a leading specialty journal, and it is a snapshot of people at one point in time. Scored zero for 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 58 of the 96 points we could judge it on, which is 60 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (The Lancet. Neurology) |
| Journal's citation record | 3 / 4 | The Lancet Neurology: journal h-index 457 (OpenAlex, 2026-10-29) |
| Study design | 4 / 12 | A snapshot of people at one point in time |
| 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 | 3 / 5 | 2023 — within 6 year(s) of the newest study here |
| Sample size | 2 / 4 | 216 participants |
| 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 (participant count stated) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 4 / 7 | Cited 55 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 11.0 citations a year over 5 year(s) since 2023 |
| Impact for its field and year | 3 / 6 | Cited 7.2× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 13 other studies in this library |
| Still being cited | 2 / 4 | Cited 44 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | — / 4 | OpenAlex's profile for last-listed author Anna Diffenbacher holds only 8 work(s), too few to judge a track record — left out of this score |
| Institution's track record | 3 / 3 | Harvard University: institution h-index 3,235 (OpenAlex) |
| Multicenter collaboration | 3 / 3 | OpenAlex lists 12 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 36517172) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 58 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 58 of the 96 points we could judge it on is 60 out of 100. |
| Total | 60 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1016/s1474-4422(22)00408-2
- PubMed: 36517172
- Original source →
- Free full text: PubMed Central →
Full text: free to read — PubMed Central lists this copy as free to read: the link above (checked 10 Oct 2026).
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