APP Gene Duplication Unraveled: A Unique Case of Atypical Dementia with Prominent Psychiatric Concerns in a Hispanic Male
This case study describes an atypical dementia syndrome in a 64 y/o Hispanic male with a partial APP gene duplication. The clinical syndrome is notable for neuropsychiatric symptoms and parkinsonism. This report is consistent with recent work highlighting atypical dementia among a small proportion of those with APP duplications. However, our findings show the ramifications of a partial duplication within an underrepresented population, emphasizing the need for further exploration.
Authors
- Julia Castro (ORCID: https://orcid.org/0000-0003-2620-328X)
- Sudha S. Seshadri (ORCID: https://orcid.org/0000-0001-6135-2622)
- Alicia S. Parker
- Arash Salardini (ORCID: https://orcid.org/0000-0003-0193-6217)
- Crystal Mendoza
- Tiffany F. Kautz (ORCID: https://orcid.org/0000-0001-7680-4708)
- A. Campbell Sullivan
- Sandra Azareli García Velázquez
Institutions
- The University of Texas at San Antonio Health Science Center (US)
- Institute for Neurodegenerative Disorders (US)
- The University of Texas at San Antonio (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/alz.087107
- Primary Topic
- Alzheimer's disease research and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00