Genotype - Proteotype - Phenotype Relationships in Neurodegenerative Diseases

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Jeffrey L. Cummings
Springer Science & Business Media, Apr 1, 2005 - Medical - 166 pages
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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.

 

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Contents

Phenotypic Relationships
1
Towards a Molecular Classification of Neurodegenerative Disease
11
Racial and Ethnic Influences on the Expression of the Genotype in Neurodegenerative Diseases
25
Causes and Consequences of Oxidative Stress in Neurodegenerative Diseases
37
Is a Mutation Predictive of Pathology?
45
Identification of Genes that Modify the Age of Onset in a Large Familial Alzheimers Disease Kindred
61
Variable Phenotype of Alzheimers Disease with Spastic Paraparesis
73
Variations in the Behavioral Phenotype with an Emphasis on the Frontotemporal Dementia Phenotype
93
Genotypes and Phenotypes
103
Chromosome 17linked Frontotemporal dementia with UbiquitinPositive TauNegative Inclusions
117
Variations of the Phenotype in Frontotemporal Dementias
139
Phenotypegenotype correlations in Parkinsons disease
153
Subject Index
165
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