Neuropathology of neurodegenerative disorders
33 min
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- Clinical Introduction
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49 min
1. Frontotemporal dementia- Prof. Bruce Miller
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57 min
2. Parkinson disease- Prof. Stanley Fahn
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35 min
3. Atypical parkinsonian syndromes- Dr. David Burn
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40 min
4. Huntington's disease- Prof. Roger Barker
- Neuroimaging
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22 min
5. Molecular brain imaging (PET) in diseases with dementia- Prof. Karl Herholz
- Pathology, Genetic and Molecular Aspects (1)
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42 min
6. A molecular understanding of Alzheimer's disease- Prof. John Hardy
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33 min
7. Neuropathology of neurodegenerative disorders- Prof. Jillian Kril
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52 min
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12 min
9. Ubiquitination and Alzheimer related disorders- Prof. John Mayer
- Pathology, Genetic and Molecular Aspects (2)
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46 min
10. The molecular biology of Huntington's disease- Prof. David C. Rubinsztein
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46 min
11. Metals, oxidative stress and neurodegeneration- Prof. Ashley Bush
- Latest Developments in the Field
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46 min
12. Animal models of tauopathy- Prof. David Westaway
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61 min
13. Parkinson's disease and transplants- Prof. Roger Barker
- Archived Lectures *These may not cover the latest advances in the field
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29 min
14. Neuropathology of neurodegenerative disorders- Prof. Jillian Kril
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36 min
15. Motor neurone disease: molecular basis- Prof. Kevin Talbot
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51 min
16. Alzheimer's disease (AD)- Prof. John Hodges
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53 min
17. Frontotemporal dementia syndromes- Prof. John Hodges
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38 min
18. Motor neurone disease: clinical aspects- Prof. Kevin Talbot
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26 min
19. Neuro-imaging in dementia: using MRI in routine work-up- Prof. Philip Scheltens
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53 min
20. Prion diseases- Prof. Pierluigi Gambetti
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38 min
21. Mitochondrial disorders and neurodegeneration- Prof. Anthony Schapira
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21 min
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44 min
23. Mutations in parkinsonian syndromes- Dr. Andrew Singleton
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42 min
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32 min
25. Frontotemporal dementia- Prof. Bruce Miller
Printable Handouts
Navigable Slide Index
- Intro slide
- Parkinson's disease
- Parkinson's disease genetics
- Why use genetics for PD?
- PARK loci identified to date
- Synuclein - PARK1 and PARK4
- Missense mutations in alpha-synuclein
- Gene dosage mutations in alpha-synuclein
- Gene triplication leads to doubling in protein levels
- Fulminant pathology in synuclein triplication cases
- Implication of alpha-synuclein dose in PD
- Dose - a general principle
- The role of synuclein in Lewy body disorders
- Alpha-synuclein in PD; a summary
- Parkin
- Mutations in parkin as a cause of parkinsonism
- Parkin phenotype
- Parkin pathogenicity
- Parkin and etiology
- DJ-1
- Mutations in DJ-1 as a cause of parkinsonism
- DJ-1 phenotype
- PINK1
- Mutations in PINK1 as a cause of parkinsonism
- PINK1 phenotype
- LRRK2
- The identification of linkage to Chr 12
- Pursuing a positional cloning project for PARK8
- Limiting the critical interval for PARK8
- Mutations in LRRK2 as a cause of PARK8 disease
- Expression of dardarin
- LRRK2 mutations - a common cause of disease
- PARK8 conclusions
- Summary of defined PARK loci
- LRRK2 phenotypic variability (clinical)
- LRRK2 phenotypic variability (pathological)
- Variable phenotype for genetic forms of disease
- Dardarin - for variable phenotype from one cause
- Potential role of dardarin and synuclein in disease
- Extant PARK loci
- 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:
Categories:
Therapeutic Areas:
Talk Citation
Singleton, A. (2007, October 1). Mutations in parkinsonian syndromes [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved August 31, 2024, from https://doi.org/10.69645/ZKKH8633.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Andrew Singleton has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
