Biomarker‐informed characterization of an <i>ABCA7</i> tandem repeat expansion in a family with early‐onset Alzheimer’s Disease
Expansion of this intronic VNTR in ABCA7 appears to be associated with AD and possibly CAA. Our results are consistent with the pathogenic threshold of approximately 229 VNTR units determined by De Roeck et al. (2018). Validation in larger cohorts with LRS will be required to confirm the causality and mechanisms of this VNTR in AD.
Authors
- Edward Norman Wilson (ORCID: https://orcid.org/0000-0003-0640-5247)
- Michael D. Greicius (ORCID: https://orcid.org/0000-0002-5462-9037)
- Elizabeth C. Mormino (ORCID: https://orcid.org/0000-0002-4542-6537)
- Lia Talozzi (ORCID: https://orcid.org/0000-0003-1827-0407)
- Andrés Peña‐Tauber (ORCID: https://orcid.org/0000-0001-9501-4920)
- Holden Orias
Institutions
- Stanford University (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1002/alz70861_108977
- Primary Topic
- Alzheimer's disease research and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00