Cited by 19Down syndrome and intellectual disability researchAlzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Down syndrome biobank consortium: a perspective

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Aldecoa, Iban, Barroeta, Isabel, Carroll, Steven L., Fortea, Juan, Gilmore, Anah, Ginsberg, Stephen D., Guzman, Samuel J., Hamlett, Eric D. +11 more·2024·Alzheimer's & Dementia

Abstract

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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  1. [43]Mufson EJ, Ginsberg SD, Ma T, Ledreux A, Perez SE. Editorial: Down syndrome. Front Aging Neurosci. 2021; 13: 791044. 34975462 PMC8715919

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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
Venue
Alzheimer's & Dementia
Publisher
Wiley
Published
2024-01-25
Volume
20
Issue
3
Pages
2262-2272
ISSN
  • 1552-5260 (ISSN-L)
  • 1552-5279
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
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

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