A novel stop‐gain SORL1 mutation from Amerindian background in a Peruvian family with Alzheimer’s Disease of the PeADI Study
We report the first Peruvian AD family carrying a likely pathogenic stop-gain SORL1 variant within an Amerindian background region. Further cosegregation and functional assays are required to establish the risk size of this variant for AD.
Authors
- Mario Cornejo‐Olivas (ORCID: https://orcid.org/0000-0001-6313-5680)
- Karina Milla‐Neyra (ORCID: https://orcid.org/0000-0002-7699-4393)
- Gary W. Beecham (ORCID: https://orcid.org/0000-0002-7061-6332)
- Ismael Araujo‐Aliaga
- Maryenela Illanes‐Manrique (ORCID: https://orcid.org/0000-0002-3098-0981)
- Farid Rajabli (ORCID: https://orcid.org/0000-0001-5229-7254)
- Patrice L. Whitehead
- Michael L. Cuccaro (ORCID: https://orcid.org/0000-0003-4769-0785)
- Jeffery M. Vance (ORCID: https://orcid.org/0000-0003-3815-8199)
- Carla Manrique‐Enciso
- Richard Rodríguez (ORCID: https://orcid.org/0000-0002-0088-653X)
- Peter St George‐Hyslop (ORCID: https://orcid.org/0000-0003-0796-7209)
- Rosario Isasi
- Pedro Mena (ORCID: https://orcid.org/0000-0003-2150-2977)
- Sheila Castro‐Suárez (ORCID: https://orcid.org/0000-0003-0313-3987)
- Elison Sarapura‐Castro (ORCID: https://orcid.org/0000-0002-1562-3062)
- Anthony J. Griswold (ORCID: https://orcid.org/0000-0003-1925-7810)
- Ana Saldarriaga‐Mayo (ORCID: https://orcid.org/0000-0002-1150-6715)
- Larry D. Adams
- Katalina McInerney
- Margaret A Pericak‐Vance
Institutions
- University of Miami (US)
- Universidad Científica del Sur (PE)
- Columbia University Irving Medical Center (US)
- Instituto Nacional de Enfermedades Neoplásicas (PE)
- Dr. John T. Macdonald Foundation (US)
- Global Brain Health Institute (US)
- Instituto Nacional de Ciencias Neurológicas
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/alz.090818
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.10