Genotype — Proteotype — Phenotype Relationships in Neurodegenerative Diseases

  • Jeffrey L. Cummings
  • Michel Poncet
  • John Hardy
  • Yves Christen
Conference proceedings

Part of the Research and Perspectives in Alzheimer's Disease book series (ALZHEIMER)

Table of contents

  1. Front Matter
    Pages I-XIII
  2. Alison M. Goate, Pau Pastor, Catherine M. Roe, Joanne Norton, Sumi Chakraverty, Francisco Lopera et al.
    Pages 61-71
  3. Helena Karlstrom, William S Brooks, John B J Kwok, Jillian J Kril, Glenda M Halliday, Peter R Schofield
    Pages 73-92
  4. Virginia M.-Y. Lee
    Pages 103-115
  5. Rosa Rademakers, Julie van der Zee, Samir Kumar-Singh, Bart Dermaut, Marc Cruts, Christine Van Broeckhoven
    Pages 117-137
  6. Norman L. Foster, R. E. Koeppe, B. J. Giordani, T. E. Nichols, A. P. Lieberman
    Pages 139-152
  7. Alexis Brice, Ebba Lohmann, Pablo Ibanez, Magali Periquet, Sophie Laine, Béatrice Debarges et al.
    Pages 153-164
  8. Back Matter
    Pages 165-166

About these proceedings


Protein misfolding and other abnormalities of protein metabolism are increasingly recognized as central mechanisms in the pathophysiology of neurodegenerative disorders. Amyloid beta protein disturbances in Alzheimer’s disease, tau and ubiquitin protein abnormalities in frontotemporal dementias, proteasome and alpha-synuclein disorders in Parkinson’s disease and dementia with Lewy bodies comprise central elements in these common neurodegenerative diseases. Improved understanding of role of protein dysmetabolism in neurodegeneration promises to improve diagnoses, facilitate the development of biological markers relevant to disease pathophysiology, and provide tractable therapeutic targets. This Fondation IPSEN conference summary provides an update on the latest advances of the role of protein misfolding in the pathophysiology of neurodegenerative diseases.


Parkinson Parkinson's disease Proteinopathies amyloid precursor protein frontotemporal dementia phenotype oxidative stress phenotype presenilin

Editors and affiliations

  • Jeffrey L. Cummings
    • 1
  • Michel Poncet
    • 2
  • John Hardy
    • 3
  • Yves Christen
    • 4
  1. 1.Reed Neurological Research Center, UCLALos AngelesUSA
  2. 2.NeurologieCHU La Timone, Bd. Jean MoulinMarseille Cedex 05France
  3. 3.Laboratory of Neurogenetics, National Institute on AgingNational Institutes of HealthBethesdaUSA
  4. 4.Pour la Recherche ThérapeutiqueFondation IPSENParis Cedex 16France

Bibliographic information