Down syndrome biobank consortium: a perspective
Open accessAbstract
Individuals with Down syndrome (DS) have a partial or complete trisomy of chromosome 21, resulting in an increased risk for early‐onset Alzheimer's disease (AD)‐type dementia by early midlife. Despite ongoing clinical trials to treat late‐onset AD, individuals with DS are often excluded. Furthermore, timely diagnosis or management is often not available. Of the genetic causes of AD, people with DS represent the largest cohort. Currently, there is a knowledge gap regarding the underlying neurobiological mechanisms of DS‐related AD (DS‐AD), partly due to limited access to well‐characterized brain tissue and biomaterials for research. To address this challenge, we created an international consortium of brain banks focused on collecting and disseminating brain tissue from persons with DS throughout their lifespan, named the Down Syndrome Biobank Consortium (DSBC) consisting of 11 biobanking sites located in Europe, India, and the USA. This perspective describes the DSBC harmonized protocols and tissue dissemination goals.
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All cases underwent neuropathological assessment by a board-certified neuropathologist according to a modified National Institute on Aging-Alzheimer's Association protocol.
“All cases underwent neuropathological assessment by a board‐certified neuropathologist according to a modified National Institute on Aging—Alzheimer's Association protocol. 4”
From Disruption of hippocampal upstream regulators of mTOR and insulin pathways in Down syndrome with Alzheimer's disease neuropathology: Preliminary observations (2026) · cites this paper as [4]
The Methods section, “Tissue and biofluid processing” (page not provided), says tissue sections are stained according to NIA–AA protocols and describes stains used for neuropathological examination. It does not say that all cases were assessed by a board-certified neuropathologist or that the protocol was modified. (LLM, conf=0.86)
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- Authors
- Aldecoa, I., Barroeta, I., Carroll, S. L., Fortea, J., Gilmore, A., Ginsberg, S. D., Guzman, S. J., Hamlett, E. D., Head, E., Perez, S. E., Potter, H., Molina‐Porcel, L., Raha‐Chowdhury, R., Wisniewski, T., Yong, W. H., Zaman, S., Ghosh, S., Mufson, E. J., & Granholm, A.
- Affiliations
- Pathology Department Hospital Clinic de Barcelona‐University of Barcelona Barcelona Spain
- Hospital de Sant Pau (ES)
- Medical University of South Carolina (US)
- University of Colorado Anschutz (US)
- Nathan Kline Institute for Psychiatric Research (US)
- University of California, Irvine (US)
- Barrow Neurological Institute (US)
- Hospital Clínic de Barcelona (ES)
- University of Cambridge (GB)
- Center for Cognitive Neurology, Departments of Neurology, Pathology and Psychiatry New York University Grossman School of Medicine New York New York USA
- University of Calcutta (IN)
- Corresponding author
- Granholm, Ann‐Charlotte
- ORCID
- Venue
- Alzheimer's & Dementia
- Publisher
- Wiley
- Published
- 2024-01-25
- Volume
- 20
- Issue
- 3
- Pages
- 2262-2272
- ISSN
- 1552-5260 (ISSN-L)
- 1552-5279
- PMC
- PMC10984425
- OpenAlex
- W4391223168
- Cited by
- 19
- References
- 56
- Citations by year
- 2026: 7 · 2025: 7 · 2024: 5
- FWCI
- 7.87
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Alzheimer s & Dementia (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Dipòsit Digital de Documents de la UAB (Universitat Autònoma de Barcelona) (submittedVersion, cc-by)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- Apollo (University of Cambridge) (submittedVersion, cc-by)
- Greater South Information System
- Funders
- National Institutes of Health (R01AG071228, R01AG070153, R01AG061566, P01AG060882, P30AG066512)
- Barrow Neurological Foundation
- BrightFocus Foundation (CA2018010)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- Down syndrome
- MeSH terms
- Alzheimer Disease, Brain, Down Syndrome, Europe, Humans, Biological Specimen Banks
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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