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50/100

✓ Peer-reviewed alzhub usefulness score 50 out of 100. Down syndrome and Alzheimer's

Topic: Brain proteins, microglia and lab models

Introduction Comorbid Alzheimer disease pathologies are frequently found in people with Down syndrome (DS). We report a deep phenotyping study undertaken over 7 years in a participant with DS who was nondemented at baseline but developed dementia after 5 years. Methods Throughout the course of the study, the participant was seen 4 times (2010, 2013, 2015, and 2017). Multimodal neuroimaging, including three serial scans of [ 11 C]-PiB-PET, four structural magnetic resonance imagings, as well as a [ 18 F]-AV1451 scan, was interpreted alongside detailed neuropsychological assessments over the study period. Results Amyloid beta accumulation preceded the onset of dementia and cognitive decline, which in turn corresponded to the predominant deposition of tau in temporoparietal cortices. Discussion Until now, data on the longitudinal trajectories of amyloid accumulation, tau pathology, and brain atrophy over multiple time points remain scarce in DS. This case report highlights the potential for deep phenotyping imaging to elucidate the substrates of cognitive decline in DS, although further longitudinal studies are necessary to clarify the relative contributions of both amyloid and tau.

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APA 7th

Mak, E., Bickerton, A., Padilla, C., Walpert, M. J., Annus, T., Wilson, L. R., et al. (2019). Longitudinal trajectories of amyloid deposition, cortical thickness, and tau in Down syndrome: A deep-phenotyping case report. Alzheimer's & dementia (Amsterdam, Netherlands). https://doi.org/10.1016/j.dadm.2019.04.006

Vancouver

Mak E, Bickerton A, Padilla C, Walpert MJ, Annus T, Wilson LR, et al. Longitudinal trajectories of amyloid deposition, cortical thickness, and tau in Down syndrome: A deep-phenotyping case report. Alzheimer's & dementia (Amsterdam, Netherlands). 2019. doi:10.1016/j.dadm.2019.04.006. PMID: 31909173.

BibTeX

@article{mak2019-31909173,
  author  = {Mak, E. and Bickerton, A. and Padilla, C. and Walpert, M. J. and Annus, T. and Wilson, L. R. and Hong, Y. T. and Fryer, T. D. and others},
  title   = {{Longitudinal trajectories of amyloid deposition, cortical thickness, and tau in Down syndrome: A deep-phenotyping case report}},
  journal = {Alzheimer's \& dementia (Amsterdam, Netherlands)},
  year    = {2019},
  doi     = {10.1016/j.dadm.2019.04.006},
  pmid    = {31909173},
  url     = {https://doi.org/10.1016/j.dadm.2019.04.006}
}

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Key findings

Results Amyloid beta accumulation preceded the onset of dementia and cognitive decline, which in turn corresponded to the predominant deposition of tau in temporoparietal cortices.

Why it matters

This case report followed one person with Down syndrome over seven years and found that amyloid beta accumulation preceded dementia and cognitive decline, which corresponded to tau deposition in temporoparietal cortices. It is a single case report and the authors note further longitudinal studies are necessary, so it does not establish a treatment or cure.

Study details

Study designlongitudinal study
Evidence strengthModerate

How this study scored 50/100

Published in a leading specialty journal, and it is a longitudinal study following the same people over time. Scored zero for sample size, effect reported, studied in people and randomized / blinded because the record does not state it.

Component	Points	Why
Journal tier	9 / 10	Tier 2 — leading specialty journal (Alzheimer's & dementia (Amsterdam, Netherlands))
Journal's citation record	1 / 4	Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring: journal h-index 86 (OpenAlex, 2026-10-29)
Study design	7 / 12	A longitudinal study following the same people over time
Strength of evidence	3 / 5	Rated “moderate” in our summary
Peer-review validation	10 / 10	Peer-reviewed. Published as an article in a named peer-reviewed journal.
How recent	2 / 5	2019 — within 10 year(s) of the newest study here
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)
Randomized / blinded	0 / 2	No randomization or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	3 / 7	Cited 20 times (OpenAlex, 2026-10-10)
Citations per year	1 / 5	2.2 citations a year over 9 year(s) since 2019
Impact for its field and year	2 / 6	Cited 2.9× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	1 / 6	Cited by 1 other studies in this library
Still being cited	0 / 4	Cited 2 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	3 / 4	Last-listed author Anthony John Holland: h-index 67 (OpenAlex, whole career)
Institution's track record	2 / 3	University of Cambridge: institution h-index 1,973 (OpenAlex)
Multicenter collaboration	2 / 3	OpenAlex lists 4 institution(s) in 3 countries
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 31909173)
Free to read	2 / 2	Free to read
Total	50 / 100	—

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