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Alzheimer-Related Cerebrovascular Disease in Down Syndrome
Lao PJ, Gutierrez J, Keator D, Rizvi B, Banerjee A, Igwe KC, Laing KK, Sathishkumar M et al.. Annals of neurology, 2020-10-09
Topic: Amyloid, tau and blood-test diagnosis
Plain-language summary
Objective Adults with Down syndrome (DS) develop Alzheimer disease (AD) pathology by their 5th decade. Compared with the general population, traditional vascular risks in adults with DS are rare, allowing examination of cerebrovascular disease in this population and insight into its role in AD without the confound of vascular risk factors. We examined in vivo magnetic resonance imaging (MRI)-based biomarkers of cerebrovascular pathology in adults with DS, and determined their cross-sectional relationship with age, beta-amyloid pathology, and mild cognitive impairment or clinical AD diagnostic status. Methods Participants from the Biomarkers of Alzheimer's Disease in Down Syndrome study (n = 138, 50 ± 7 years, 39% women) with MRI data and a subset (n = 90) with amyloid positron emission tomography (PET) were included. We derived MRI-based biomarkers of cerebrovascular pathology, including white matter hyperintensities (WMH), infarcts, cerebral microbleeds, and enlarged perivascular spaces (PVS), as well as PET-based biomarkers of amyloid burden. Participants were characterized as cognitively stable (CS), mild cognitive impairment-DS (MCI-DS), possible AD dementia, or definite AD dementia based on in-depth assessments of cognition, function, and health status. Results There were detectable WMH, enlarged PVS, infarcts, and microbleeds as early as the 5th decade of life. There was a monotonic increase in WMH volume, enlarged PVS, and presence of infarcts across diagnostic groups (CS Interpretation The findings highlight the prevalence of cerebrovascular disease in adults with DS and add to a growing body of evidence that implicates cerebrovascular disease as a core feature of AD and not simply a comorbidity. ANN NEUROL 2020;88:1165-1177.
What this study adds
Evidence grade: Low
This is a cross-sectional study of 138 participants. In adults with Down syndrome, this cross-sectional study found signs of cerebrovascular disease on MRI as early as the fifth decade of life. It describes when these brain changes appear and how they relate to amyloid and cognitive status, but it does not test a treatment or prevention.
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
Lao, P. J., Gutierrez, J., Keator, D., Rizvi, B., Banerjee, A., Igwe, K. C., et al. (2020). Alzheimer-Related Cerebrovascular Disease in Down Syndrome. Annals of neurology. https://doi.org/10.1002/ana.25905
Vancouver
Lao PJ, Gutierrez J, Keator D, Rizvi B, Banerjee A, Igwe KC, et al. Alzheimer-Related Cerebrovascular Disease in Down Syndrome. Annals of neurology. 2020. doi:10.1002/ana.25905. PMID: 32944999.
BibTeX
@article{lao2020-32944999,
author = {Lao, P. J. and Gutierrez, J. and Keator, D. and Rizvi, B. and Banerjee, A. and Igwe, K. C. and Laing, K. K. and Sathishkumar, M. and others},
title = {{Alzheimer-Related Cerebrovascular Disease in Down Syndrome}},
journal = {Annals of neurology},
year = {2020},
doi = {10.1002/ana.25905},
pmid = {32944999},
url = {https://doi.org/10.1002/ana.25905}
}
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Key findings
- Compared with the general population, traditional vascular risks in adults with DS are rare, allowing examination of cerebrovascular disease in this population and insight into its role in AD without the confound of vascular risk factors.
- Results There were detectable WMH, enlarged PVS, infarcts, and microbleeds as early as the 5th decade of life.
Why it matters
In adults with Down syndrome, this cross-sectional study found signs of cerebrovascular disease on MRI as early as the fifth decade of life. It describes when these brain changes appear and how they relate to amyloid and cognitive status, but it does not test a treatment or prevention.
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Study details
- Study designcross-sectional
- Participants138
- Evidence strengthLow
How this study scored 58/100
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.
| 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 | 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 | 2 / 5 | 2020 — within 10 year(s) of the newest study here |
| Sample size | 2 / 4 | 138 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 73 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 9.1 citations a year over 8 year(s) since 2020 |
| Impact for its field and year | 3 / 6 | Cited 5.8× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 8 other studies in this library |
| Still being cited | 2 / 4 | Cited 37 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Adam M. Brickman: h-index 87 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | Harvard University: institution h-index 3,235 (OpenAlex) |
| Multicenter collaboration | 2 / 3 | OpenAlex lists 5 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 32944999) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 58 / 100 | — |
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