Cummings / Hardy / Poncet Genotype - Proteotype - Phenotype Relationships in Neurodegenerative Diseases

1. Auflage 2005
ISBN: 978-3-540-26522-1
Verlag: Springer Berlin Heidelberg
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, 166 Seiten

Reihe: Research and Perspectives in Alzheimer's Disease

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.

Autoren/Hrsg.

Cummings, J.

Hardy, J.

Poncet, M.

Inhaltsverzeichnis

1;Preface;5
2;Contents;7
3;Contributors;9
4;Neurodegenerative Disorders as Proteinopathies: Phenotypic Relationships;14
5;Towards a Molecular Classification of Neurodegenerative Disease;24
6;Racial and Ethnic Influences on the Expression of the Genotype in Neurodegenerative Diseases;38
7;Causes and Consequences of Oxidative Stress in Neurodegenerative Diseases;50
8;Early Onset Familial Alzheimer’s Disease: Is a Mutation Predictive of Pathology?;58
9;Identification of Genes that Modify the Age of Onset in a Large Familial Alzheimer’s Disease Kindred;74
10;Variable Phenotype of Alzheimer’s Disease with Spastic Paraparesis;86
11;Presenilin Mutations: Variations in the Behavioral Phenotype with an Emphasis on the Frontotemporal Dementia Phenotype;106
12;Frontotemporal Dementias: Genotypes and Phenotypes;116
13;Chromosome 17-linked Frontotemporal dementia with Ubiquitin- Positive, Tau- Negative Inclusions;130
14;Variations of the Phenotype in Frontotemporal Dementias;152
15;Phenotype/genotype correlations in Parkinson’s disease;166
16;Subject Index;178