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1. Introduction
2. Objectives
3. Alzheimer Disease (AD)
4. The APP protein accumulates in AD
5. APP processing
6. Strongest risk factors of AD
7. Down Syndrome and AD genetics
8. The first APP mutation recognized
9. APP mutation association with AD
10. Localization of AD causing mutations in APP
11. Phenotypic effects of APP mutations
12. APP duplication in AD
13. Early onset AD is genetically heterogeneous
14. Cloning the presenilin 1 gene
15. Location of PSEN1 mutations
16. PSEN1 mutations and early-onset AD
17. Presenilin 2 (PSEN2)
18. Mutation analysis of PSEN2
19. Presenilin cleavage
20. Components of gamma secretase complex
21. Increase in Amyloid beta42 secretion
22. Presenilins in different signaling pathways
23. PSENs mutations - phenotypic heterogeneity
24. Variant AD & Spastic Paraparesis (SP)
25. AD and SP in one family
26. Brain pathology of variant AD with SP
27. PSEN1 mutation and the AD variant phenotype
28. Gene interactions in AD patients (1)
29. Gene interactions in AD patients (2)
30. The suppression effect of the APOE genotype
31. APP, PSEN1 and PSEN2 - summary
32. Applying the genetic knowledge to patient care
33. Genetic testing with APP, PSEN1 and PSEN2
34. Genetic testing for adult onset diseases like AD
35. Genetic testing for PSEN1 mutations
36. Results
37. Insertion of Arg352 in the PSEN1 gene (1)
38. Insertion of Arg352 in the PSEN1 gene (2)
39. Results (2)
40. Conclusion
41. Altered APP/Amyloid beta metabolism in AD
42. Future goals
43. Other genes that modulate the risk for AD
44. Acknowledgements

Topics Covered

• Role of amyloid precursor protein (APP) in Alzheimer's Disease (AD)
• Presenilins as AD causing genes
• Phenotypic heterogeneity in cases with presenilin mutations
• Gene-gene interactions in patients with AD
• Genetic testing in AD

Links

Series:

• Alzheimer's Disease

Categories:

• Clinical Practice
• Genetics & Epigenetics
• Neuroscience

Therapeutic Areas:

• Neurology

Talk Citation

Publication History

• Published on August 26, 2010
• Reviewed on September 5, 2024
• Updated on January 13, 2025

Financial Disclosures

• Prof. Ekaterina Rogaeva has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.