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Genotype - Proteotype - Phenotype Relationships in Neurodegenerative Diseases

  • Conference proceedings
  • © 2005

Overview

Editors:
  1. Jeffrey L. Cummings

    1. Reed Neurological Research Center, UCLA, Los Angeles, USA

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  2. Michel Poncet

    1. Neurologie, CHU La Timone, Bd. Jean Moulin, Marseille Cedex 05, France

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  3. John Hardy

    1. Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, USA

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  4. Yves Christen

    1. Pour la Recherche Thérapeutique, Fondation IPSEN, Paris Cedex 16, France

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

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Table of contents (12 papers)

  1. Front Matter

    Pages I-XIII
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  2. Neurodegenerative Disorders as Proteinopathies: Phenotypic Relationships

    • Jeffrey L. Cummings
    Pages 1-10

  3. Towards a Molecular Classification of Neurodegenerative Disease

    • John Hardy
    Pages 11-23

  4. Racial and Ethnic Influences on the Expression of the Genotype in Neurodegenerative Diseases

    • Katrina Gwinn-Hardy
    Pages 25-36

  5. Causes and Consequences of Oxidative Stress in Neurodegenerative Diseases

    • Domenico Praticò
    Pages 37-44

  6. Early Onset Familial Alzheimer's Disease: Is a Mutation Predictive of Pathology?

    • Douglas Galasko
    Pages 45-59

  7. Identification of Genes that Modify the Age of Onset in a Large Familial Alzheimer's Disease Kindred

    • Alison M. Goate, Pau Pastor, Catherine M. Roe, Joanne Norton, Sumi Chakraverty, Francisco Lopera et al.
    Pages 61-71

  8. Variable Phenotype of Alzheimer's Disease with Spastic Paraparesis

    • Helena Karlstrom, William S Brooks, John B J Kwok, Jillian J Kril, Glenda M Halliday, Peter R Schofield
    Pages 73-92

  9. Presenilin Mutations: Variations in the Behavioral Phenotype with an Emphasis on the Frontotemporal Dementia Phenotype

    • Neill R Graff-Radford
    Pages 93-101

  10. Frontotemporal Dementias: Genotypes and Phenotypes

    • Virginia M.-Y. Lee
    Pages 103-115

  11. Chromosome 17-linked Frontotemporal dementia with Ubiquitin-Positive, Tau-Negative Inclusions

    • Rosa Rademakers, Julie van der Zee, Samir Kumar-Singh, Bart Dermaut, Marc Cruts, Christine Van Broeckhoven
    Pages 117-137

  12. Variations of the Phenotype in Frontotemporal Dementias

    • Norman L. Foster, R. E. Koeppe, B. J. Giordani, T. E. Nichols, A. P. Lieberman
    Pages 139-152

  13. Phenotype/genotype correlations in Parkinson's disease

    • Alexis Brice, Ebba Lohmann, Pablo Ibanez, Magali Periquet, Sophie Laine, Béatrice Debarges et al.
    Pages 153-164

  14. Back Matter

    Pages 165-166
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Keywords

About this book

Recent advances in understanding the role of protein dysmetabolism in neurodegeneration was the theme of the Fondation IPSEN meeting addressing Genotype-Proteotype-Phenotype relationships. Experts from international laboratories contributed to the  current volume to produce a comprehensive overview of the role of protein misfolding in neurodegeneration. Links between genotype and protein characteristics and between proteotype and clinical phenomenology were discussed across diseases categories. Progress in understanding the role of abnormalities of protein metabolism may lead to the identification of biological markers relevant to disease monitoring and to the development of new therapeutic agents capable of modifying and ameliorating basic neurodegenerative mechanisms.

Editors and Affiliations

  • Reed Neurological Research Center, UCLA, Los Angeles, USA

    Jeffrey L. Cummings

  • Neurologie, CHU La Timone, Bd. Jean Moulin, Marseille Cedex 05, France

    Michel Poncet

  • Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, USA

    John Hardy

  • Pour la Recherche Thérapeutique, Fondation IPSEN, Paris Cedex 16, France

    Yves Christen

Bibliographic Information

  • Book Title: Genotype - Proteotype - Phenotype Relationships in Neurodegenerative Diseases

  • Editors: Jeffrey L. Cummings, Michel Poncet, John Hardy, Yves Christen

  • Series Title: Research and Perspectives in Alzheimer's Disease

  • DOI: https://doi.org/10.1007/b137738

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: Springer-Verlag Berlin Heidelberg 2005

  • Hardcover ISBN: 978-3-540-24835-4Published: 01 April 2005

  • Softcover ISBN: 978-3-642-06395-4Published: 19 October 2010

  • eBook ISBN: 978-3-540-26522-1Published: 11 October 2005

  • Series ISSN: 0945-6066

  • Series E-ISSN: 2196-310X

  • Edition Number: 1

  • Number of Pages: XIII, 166

  • Topics: Neurosciences, Neurology

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