Neuropathology of trisomy 21 mosaicism in a case with early‐onset dementia
Trisomy 21 mosaicism (mT21) occurs when three copies of chromosome 21 are present in some but not all somatic cells in an individual. mT21 accounts for ≈ 2% of people diagnosed with Down syndrome (DS). Immunohistochemical identification of amyloid beta, tau, astrocytes, microglia, α-synuclein, and TAR DNA-binding protein 43 show that Alzheimer's disease (AD) pathology in mT21 is similar to full trisomy 21. The findings in this case report highlight that mT21 is sufficient to induce AD neuropathology and early-onset dementia.
Authors
- Harry V. Vinters
- William H. Yong
- Shino Magaki (ORCID: https://orcid.org/0000-0003-0433-5759)
- Christopher Kwesi O. Williams (ORCID: https://orcid.org/0000-0001-9403-7207)
- Elizabeth Head (ORCID: https://orcid.org/0000-0003-1115-6396)
- Jesse R. Pascual (ORCID: https://orcid.org/0000-0002-3307-0887)
- John M. Ringman (ORCID: https://orcid.org/0000-0001-5429-0777)
- Sierra Wright
- Phong Ngo
Institutions
- University of Southern California (US)
- University of California, Los Angeles (US)
- University of California, Irvine (US)
- University of California, Irvine Medical Center (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2024-12-10
- DOI
- https://doi.org/10.1002/alz.14394
- Citations
- 1
- Primary Topic
- Down syndrome and intellectual disability research
- Type
- article
- Field-Weighted Citation Impact
- 0.54
Funders
- National Institutes of Health
- National Institute on Aging