Genetic Analysis of an Amyloid PET‐Negative Autopsy‐Confirmed Alzheimer’s Pedigree
This study highlights an unusual AD pedigree and emphasizes the potential utility of LRS in identifying causal SNVs and SVs. In future work we plan to perform additional amyloid stains to understand why the index case PET was amyloid-negative. We are also assessing additional family members to improve our ability to identify a causal mutation.
Authors
- Yann Le Guen (ORCID: https://orcid.org/0000-0001-6649-8364)
- Inma Cobos (ORCID: https://orcid.org/0000-0002-2043-1890)
- John E. Gorzynski (ORCID: https://orcid.org/0000-0002-9034-9016)
- Kennedy Williams
- Katrin I. Andreasson (ORCID: https://orcid.org/0000-0001-8391-4155)
- Edward Norman Wilson (ORCID: https://orcid.org/0000-0003-0640-5247)
- Marco M. Hefti (ORCID: https://orcid.org/0000-0002-3127-4528)
- Ilaria Stewart (ORCID: https://orcid.org/0000-0002-8655-9387)
- Michael D. Greicius (ORCID: https://orcid.org/0000-0002-5462-9037)
- Euan Angus Ashley (ORCID: https://orcid.org/0000-0001-9418-9577)
- Elizabeth C. Mormino (ORCID: https://orcid.org/0000-0002-4542-6537)
- Christina B. Young (ORCID: https://orcid.org/0000-0001-9535-2137)
- Lia Talozzi (ORCID: https://orcid.org/0000-0003-1827-0407)
- Kristen Vallejo (ORCID: https://orcid.org/0009-0005-1418-7931)
- Tanner Jensen (ORCID: https://orcid.org/0000-0002-1873-8607)
- Andrés Peña‐Tauber (ORCID: https://orcid.org/0000-0001-9501-4920)
- Hillary Vossler
Institutions
- University of Iowa (US)
- Stanford University (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/alz.090996
- Primary Topic
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Type
- article
- Field-Weighted Citation Impact
- 0.00