Neuroacanthocytosis Syndromes by Adrian Danek (English) Hardcover Book

Description: Neuroacanthocytosis Syndromes by Adrian Danek The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. FORMAT Hardcover LANGUAGE English CONDITION Brand New Publisher Description Neuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntingtons disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes. Notes Provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes Table of Contents Neuroacanthocytosis Syndromes: What Links Red Blood Cells and Neurons?.- Clinical Context.- The Differential Diagnosis of Neuroacanthocytosis: An Overview.- Acanthocytes and Disorders of Lipoprotein Metabolism.- Levine-Critchley Syndrome of Neuroacanthocytosis: A Clinical Review.- Chorea-Acanthocytosis with the Ehime-Deletion Mutation.- McLeod Syndrome: A Clinical Review.- Autosomal-Dominant Chorea-Acanthocytosis: Report of a Family and Neuropathology.- Acanthocytes in Pantothenate Kinase Associated Neurodegeneration.- Diagnostic Test for Neuroacanthocytosis: Quantitative Measurement of Red Blood Cell Morphology.- Differential Diagnosis of Serum Creatine Kinase Elevation.- Organ Involvement.- Pathology of Neuroacanthocytosis and of Huntingtons Disease.- Cognitive and Neuropsychiatric Findings in McLeod Syndrome and in Chorea-Acanthocytosis.- Epilepsy in Neuroacanthocytosis.- Sleep Features in Chorea-Acanthocytosis.- Neuromuscular Findings in Eight Italian Families with Neuroacanthocytosis.- Cardiac Involvement in the Neuroacanthocytosis Syndromes.- Basic Science.- Erythrocyte Membrane Abnormalities in Neuroacanthocytosis: Evidence for a Neuron-Erythrocyte Axis?.- Erythrocyte Membrane Anion Exchange Abnormalities in Chorea-Acanthocytosis: the Band 3 Network.- The Spectrum of Mutations and Possible Function of the CHAC Gene.- Immunohematology of the Kell and KX Blood Group Systems.- C. Elegans as a Disease Model for Neuroacanthocytosis.- The Kell Blood Group Protein, its Relation to XK and its Function as an Endothelin-3-Converting Enzyme.- Endothelins as Basal Ganglia Transmitters.- Substrates for Transglutaminase-Catalyzed Cross-Linking: Relevance to Pathogenesis of Huntingtons Disease and Chorea-Acanthocytosis.- Huntingtons Disease Animal Models: What LessonsCan Be Learned for Research on Neuroacanthocytosis Syndromes?.- Motor Deficits as Biomarkers in Huntingtons Disease: Perspectives for Neuroacanthocytosis Syndromes.- Treatment.- Treatment Options in Huntingtons Disease.- Is Surgical Treatment an Option for Chorea-Acanthocytosis?.- The Potential for Gene Therapy of Neurodegenerative Disorders.- Summary.- Research Agenda in Neuroacanthocytosis. Long Description Neuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntingtons disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes. Feature Provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes Details ISBN1402028970 Short Title NEUROACANTHOCYTOSIS SYNDROMES Language English ISBN-10 1402028970 ISBN-13 9781402028977 Media Book Format Hardcover Year 2004 Edited by Adrian Danek Imprint Springer-Verlag New York Inc. Place of Publication New York, NY Country of Publication United States Author Adrian Danek Pages 288 Illustrations XVIII, 288 p. DOI 10.1023/b100555;10.1007/1-4020-2898-9 AU Release Date 2004-11-19 NZ Release Date 2004-11-19 US Release Date 2004-11-19 UK Release Date 2004-11-19 Publisher Springer-Verlag New York Inc. Edition Description 2005 ed. Edition 2005th Publication Date 2004-11-19 Alternative 9789048167432 DEWEY 616.83 Audience Professional & Vocational We've got this At The Nile, if you're looking for it, we've got it. 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