PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer’s Disease
Abstract
:1. Introduction
2. Case Presentation
2.1. Patient Clinical Phenotypes
2.2. Genetic Analysis
3. Results
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Korean Patient | Japanese Patient | |
---|---|---|
Disease | EOAD | EOAD |
Age of onset | 55 | 55 |
Gender | F | F |
Family history | negative | Unclear, probable sporadic |
APOE | 3/3 | 4/4 |
Imaging | MRI: asymmetric atrophies of both temporo-parietal lobes; Amyloid PET-CT, asymmetric amyloid deposits in gray matter of temporo-parietal lobes. | NA |
Clinical symptoms | Memory loss, personality changes | Memory decline |
PSEN2 Thr421Met | PSEN1 Thr440del | |
---|---|---|
Disease | EOAD | EOAD/DLB |
Symptoms | Typical EOAD, initial symptom was amnesia, personality changes | Parkinsonism, cognitive decline, generalized dystonia |
Age of onset | 55 | 52 |
Family history | unclear | Probable positive |
Imaging | Atrophy in temporo-parietal lobes, PET revealed asymmetric plaques in the same areas | Neuronal loss in different brain areas: substantia nigra and cerebral cortex |
Brain hallmark | Amyloid plaques in in gray matter of temporo-parietal lobes | Cotton wool plaques, cerebral amyloid angiopathy |
Functional studies | Reduced Aβ42 and 40 levels, no effect on Aβ42/40 ratio | Reduced Aβ42 levels, abrogated Aβ40 production |
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Yang, Y.; Bagyinszky, E.; An, S.S.A.; Kim, S. PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer’s Disease. Int. J. Mol. Sci. 2022, 23, 13331. https://doi.org/10.3390/ijms232113331
Yang Y, Bagyinszky E, An SSA, Kim S. PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer’s Disease. International Journal of Molecular Sciences. 2022; 23(21):13331. https://doi.org/10.3390/ijms232113331
Chicago/Turabian StyleYang, YoungSoon, Eva Bagyinszky, Seong Soo A. An, and SangYun Kim. 2022. "PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer’s Disease" International Journal of Molecular Sciences 23, no. 21: 13331. https://doi.org/10.3390/ijms232113331