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Navigable Slide Index

1. Intro slide
2. Parkinson's disease
3. Parkinson's disease genetics
4. Why use genetics for PD?
5. PARK loci identified to date
6. Synuclein - PARK1 and PARK4
7. Missense mutations in alpha-synuclein
8. Gene dosage mutations in alpha-synuclein
9. Gene triplication leads to doubling in protein levels
10. Fulminant pathology in synuclein triplication cases
11. Implication of alpha-synuclein dose in PD
12. Dose - a general principle
13. The role of synuclein in Lewy body disorders
14. Alpha-synuclein in PD; a summary
15. Parkin
16. Mutations in parkin as a cause of parkinsonism
17. Parkin phenotype
18. Parkin pathogenicity
19. Parkin and etiology
20. DJ-1
21. Mutations in DJ-1 as a cause of parkinsonism
22. DJ-1 phenotype
23. PINK1
24. Mutations in PINK1 as a cause of parkinsonism
25. PINK1 phenotype
26. LRRK2
27. The identification of linkage to Chr 12
28. Pursuing a positional cloning project for PARK8
29. Limiting the critical interval for PARK8
30. Mutations in LRRK2 as a cause of PARK8 disease
31. Expression of dardarin
32. LRRK2 mutations - a common cause of disease
33. PARK8 conclusions
34. Summary of defined PARK loci
35. LRRK2 phenotypic variability (clinical)
36. LRRK2 phenotypic variability (pathological)
37. Variable phenotype for genetic forms of disease
38. Dardarin - for variable phenotype from one cause
39. Potential role of dardarin and synuclein in disease
40. Extant PARK loci
41. Summary: PARK loci

Topics Covered

• Historic genetic research into PD
• Previous difficulties in identifying genetic basis
• Recent advances
• Discovery of mutations in alpha-synuclein, parkin, DJ-1, PINK1 and LRRK2
• Therapeutic directions

Links

Series:

• Neurodegenerative Diseases

Categories:

• Clinical Practice
• Genetics & Epigenetics
• Neuroscience

Therapeutic Areas:

• Neurology

Talk Citation

Publication History

• Published on October 1, 2007
• Archived on February 25, 2021

Financial Disclosures

• Dr. Andrew Singleton has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.