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Genotype - Proteotype - Phenotype Relationships in Neurodegenerative Diseases
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Main description:

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.

Back cover:

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.


Neurodegenerative Disorders as Proteinopathies: Phenotypic Relationships.- Towards a Molecular Classification of Neurodegenerative Disease.- Racial and Ethnic Influences on the Expression of the Genotype in Neurodegenerative Diseases.- Causes and Consequences of Oxidative Stress in Neurodegenerative Diseases.- Early Onset Familial Alzheimer’s Disease: Is a Mutation Predictive of Pathology?.- Identification of Genes that Modify the Age of Onset in a Large Familial Alzheimer’s Disease Kindred.- Variable Phenotype of Alzheimer’s Disease with Spastic Paraparesis.- Presenilin Mutations: Variations in the Behavioral Phenotype with an Emphasis on the Frontotemporal Dementia Phenoytpe.- Frontotemporal Dementias: Genotypes and Phenotypes.- Chromosome 17-Linked Frontotemporal Dementia with Ubiquitin-Positive, tau-Negative Inclusions.- Variations of the Phenotype in Frontotemporal Dementias.- Phenotype/Genotype Correlations in Parkinson’s Disease.- Subject Index


ISBN-13: 9783642063954
Publisher: Springer (Springer Berlin Heidelberg)
Publication date: October, 2010
Pages: 180
Weight: 314g
Availability: POD
Subcategories: Neurology, Neuroscience
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