التفاصيل البيبلوغرافية
| العنوان: |
Genetic modifiers of cognitive decline in PSEN1 E280A Alzheimer's disease. |
| المؤلفون: |
Sepulveda‐Falla, Diego, Vélez, Jorge I., Acosta‐Baena, Natalia, Baena, Ana, Moreno, Sonia, Krasemann, Susanne, Lopera, Francisco, Mastronardi, Claudio A., Arcos‐Burgos, Mauricio |
| المصدر: |
Alzheimer's & Dementia: The Journal of the Alzheimer's Association; Apr2024, Vol. 20 Issue 4, p2873-2885, 13p |
| مستخلص: |
INTRODUCTION: Rate of cognitive decline (RCD) in Alzheimer's disease (AD) determines the degree of impairment for patients and of burden for caretakers. We studied the association of RCD with genetic variants in AD. METHODS: RCD was evaluated in 62 familial AD (FAD) and 53 sporadic AD (SAD) cases, and analyzed by whole‐exome sequencing for association with common exonic functional variants. Findings were validated in post mortem brain tissue. RESULTS: One hundred seventy‐two gene variants in FAD, and 227 gene variants in SAD associated with RCD. In FAD, performance decline of the immediate recall of the Rey‐Osterrieth figure test associated with 122 genetic variants. Olfactory receptor OR51B6 showed the highest number of associated variants. Its expression was detected in temporal cortex neurons. DISCUSSION: Impaired olfactory function has been associated with cognitive impairment in AD. Genetic variants in these or other genes could help to identify risk of faster memory decline in FAD and SAD patients. [ABSTRACT FROM AUTHOR] |
|
Copyright of Alzheimer's & Dementia: The Journal of the Alzheimer's Association is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Supplemental Index |
Full Text Finder