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1. Intro slide
2. The usefulness of genetics
3. Pathology of diseases
4. The beginning of AD research
5. The first breakthrough in genetics of AD
6. Sequencing families with autosomal AD
7. Finding mutations that cause AD
8. Amyloid protein precursor
9. Effect of mutations on amyloid metabolism
10. Alpha and beta pathway of metabolism
11. APP 717 and 692 mutations
12. The amyloid cascade hypothesis
13. Evidence for susceptibility loci on chromosome 14
14. FAD locus genetic maps on chromosome 14
15. Cloning of a gene bearing missense mutations
16. Structure of the presenilin protein - PS1
17. A familial AD locus on chromosome 1
18. Mutations in PS2
19. Mutations in PS line up along helices
20. PS1 with the mutations in TM2, TM3 and TM4
21. Effect of the mutations
22. Is late onset AD caused by related mechanisms?
23. Relationship between APP and PS1
24. Transgenic models of amyloid deposition
25. Presenilin accelerates amyloid pathology
26. Tau diseases linked to chromosome 17
27. Families with linkage to the FTDP-17 locus
28. Taupathologies in families with FTDP
29. The microtubule associated protein tau
30. Tau is a candidate gene for chromosome 17 FD
31. Tau exon 10 3' splice site mutations
32. FTDP-17-missense and splicing mutations in tau
33. Mice with tangles
34. Neurofibrillary tangles formation in transgenic mice
35. Gallyas stain
36. AD/FTDP-17-pathways to neurodegeneration
37. Synuclein
38. Alzheimer's diseases

Topics Covered

• Usefulness of genetics in understanding AD
• Pathology of diseases
• Amyloid protein
• Genetic maps
• Mechanism of late onset Alzheimer's
• Role of presenilin in amyloid pathology
• Tau and frontotemporal dementia
• Tau splice site mutations
• Pathways to neurodegeneration

Links

Series:

• Neurodegenerative Diseases

Categories:

• Cell Biology
• Diseases, Disorders & Treatments
• Neuroscience

Therapeutic Areas:

• Neurology

Talk Citation

Publication History

• Published on October 1, 2007

Financial Disclosures

• Prof. John Hardy, Consultant: Eisai Speaker's Bureau: Eli Lily Grant/Research Support (Principal Investiqator): MRC/Wellcome Trust