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Talk: The genetics of frontotemporal dementia (41 min)

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DETAILED SLIDE INDEX

  1. 1. Introduction
  2. 2. Characteristics of frontotemporal dementia
  3. 3. Genes involved in frontotemporal dementia
  4. 4. Pathology of frontotemporal dementia (FTD)
  5. 5. FTDP-17: 3R and 4R-tauopathies
  6. 6. FTD-TDP subtypes
  7. 7. FTLD-TDP type A
  8. 8. FTD-TDP type B
  9. 9. FTD-TDP types C and D
  10. 10. MAPT as the gene for FTD with tangles
  11. 11. The microtubule associated protein tau
  12. 12. Mutations affecting tau protein in FTD
  13. 13. Tau exon 10 3’ splice site mutations
  14. 14. PGRN mutations as a cause for FTD
  15. 15. FTD is caused by truncating GRN mutations
  16. 16. A major locus for FTD & ALS on chromosome 9
  17. 17. ALS-FTD locus shared by different families
  18. 18. The position of the C9orf72 expansion
  19. 19. C9orf72 expansions
  20. 20. A hexanucleotide repeat expansion in C9orf72
  21. 21. Mechanisms of C9orf72
  22. 22. Chromosome 3 dementia
  23. 23. Chromosome 3 dementia - family tree
  24. 24. FTD & chromatin-modifying protein 2B (CHMP2B)
  25. 25. Making sense of these genes (1)
  26. 26. Making sense of these genes (2)
  27. 27. END

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TALK'S CITATION

Hardy, J. (2014), "The genetics of frontotemporal dementia", in Hardy, J. and Lewis, P. (eds), The Genetic Basis of Neurological Disorders: , The Biomedical & Life Sciences Collection, Henry Stewart Talks Ltd, London (online at http://hstalks.com/?t=BL1903734)

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ABOUT THIS TALK

Speaker(s)

Prof. John Hardy Show Biography

SPEAKER BIOGRAPHY

Prof. John Hardy – Institute of Neurology, University College London, UK

John Hardy is a geneticist and molecular biologist whose research interests focus on neurological disease. Dr. Hardy received his BSc Hons degree from the University of Leeds, UK (1976) and his PhD from Imperial College London, UK where he studied dopamine and amino acid neuropharmacology. Dr. Hardy received his postdoctoral training at the MRC Neuropathogenesis Unit in Newcastle upon Tyne, UK and then further postdoctoral work at the Swedish Brain Bank in Umeå, Sweden where he started to work on Alzheimer's Disease. In 1996 he moved to the Mayo Clinic in Jacksonville, Florida, as Consultant and Professor of Neuroscience. He became Chair of Neuroscience in 2000 and moved to NIA as Chief of the Laboratory of Neurogenetics in 2001. He was Head of the Neurogenetics Section, National Institute of Ageing, Bethesda, USA and in 2007 took up the Chair of Molecular Biology of Neurological Disease at the UCL Institute of Neurology. With over 23,000 citations, Prof. Hardy is the most cited Alzheimer's Disease researcher in the UK (5th internationally). In recognition of his exceptional contributions to science, he was elected a Fellow of the Royal Society in 2009.

Publication Date

July, 2014

Topics Covered

Overall characteristics of FTD... more

TOPICS COVERED IN THIS TALK

  • Overall characteristics of FTD
  • Genes involved in frontotemporal dementia
  • Pathology of frontotemporal dementia
  • FTDP-17: 3R and 4R-tauopathies
  • FTLD-TDP subtypes
  • MAPT as the gene for FTD with tangles
  • The microtubule associated protein tau
  • Mutations affecting tau protein in FTD
  • PGRN mutations as a cause for FTD
  • A major locus for FTD and ALS on chromosome 9
  • Chromosome 3 dementia
  • Making sense of these genes

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The Genetic Basis of Neurological Disorders

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