Wilson Disease (Volume 142) (Handbook of Clinical Neurology, Volume 142)

__Wilson Disease__ provides a comprehensive guide on this inherited genetic disorder that has devastating consequences for both the liver and neurologic/psychiatric health. This disease is of increasing interest to neurologists, hepatologists, and geneticists, but when the disease is diagnosed early, it is treatable, with patients living normal lives. This volume describes the molecular pathophysiology of WD and the clinical and pathological effects of copper. Separate sections address both diagnosis and medical and surgical approaches to treatment. Both adult and pediatric perspectives on diagnosis and treatment are addressed, and a section on genetics highlights advances in molecular diagnostics. Patient support groups that can aid in coping with this disease are also discussed, as are animal models for those interested in basic research on cell biology, pathophysiology, and treatment. Content: Series PagePage ii CopyrightPage iv Handbook of Clinical Neurology 3rd SeriesPages v-vi ForewordPage viiMichael J. Aminoff, François Boller, Dick F. Swaab PrefacePage ixAnna Członkowska, Michael L. Schilsky ContributorsPages xi-xii Chapter 1 - History of Wilson disease: a personal accountPages 1-5John M. Walshe Chapter 2 - Epidemiology and introduction to the clinical presentation of Wilson diseasePages 7-17Christine Lo, Oliver Bandmann Chapter 3 - The genetics of Wilson diseasePages 19-34Irene J. Chang, Si Houn Hahn Chapter 4 - Genetic and environmental modifiers of Wilson diseasePages 35-41Valentina Medici, Karl-Heinz Weiss Chapter 5 - Pathogenesis of Wilson diseasePages 43-55Ivo Florin Scheiber, Radan Brůha, Petr Dušek Chapter 6 - Animal models of Wilson diseasePages 57-70Valentina Medici, Dominik Huster Chapter 7 - Wilson disease – liver pathologyPages 71-75Maciej Pronicki Chapter 8 - Wilson disease: brain pathologyPages 77-89Aurélia Poujois, Jacqueline Mikol, France Woimant Chapter 9 - Hepatic features of Wilson diseasePages 91-99Salih Boga, Aftab Ala, Michael L. Schilsky Chapter 10 - Wilson disease: neurologic featuresPages 101-119Anna Członkowska, Tomasz Litwin, Grzegorz Chabik Chapter 11 - Cognitive and psychiatric symptoms in Wilson diseasePages 121-140Paula Zimbrean, Joanna Seniów Chapter 12 - Wilson disease in childrenPages 141-156Eve A. Roberts, Piotr Socha Chapter 13 - Other organ involvement and clinical aspects of Wilson diseasePages 157-169Karolina Dzieżyc, Tomasz Litwin, Anna Członkowska Chapter 14 - Diagnosis of Wilson diseasePages 171-180Peter Ferenci Chapter 15 - Wilson disease – currently used anticopper therapyPages 181-191Anna Członkowska, Tomasz Litwin Chapter 16 - Liver transplantation for Wilson diseasePages 193-204Ahsan Ahmad, Euriko Torrazza-Perez, Michael L. Schilsky Chapter 17 - Wilson disease: symptomatic liver therapyPages 205-209Jan Pfeiffenberger, Karl-Heinz Weiss, Wolfgang Stremmel Chapter 18 - Symptomatic treatment of neurologic symptoms in Wilson diseasePages 211-223Tomasz Litwin, Petr Dušek, Anna Członkowska Chapter 19 - Novel perspectives on Wilson disease treatmentPages 225-230Christian Rupp, Wolfgang Stremmel, Karl-Heinz Weiss Chapter 20 - Patient support groups in the management of Wilson diseasePages 231-240Mary L. Graper, Michael L. Schilsky IndexPages 241-248 Front Cover -- Wilson Disease -- Copyright -- Foreword -- Preface -- Contributors -- Contents -- Chapter 1: History of Wilson disease: a personal account -- References -- Chapter 2: Epidemiology and introduction to the clinical presentation of Wilson disease -- Introduction -- Biochemical screening for the study of prevalence -- Modern genetics studies -- Population isolates -- Genetic versus clinical prevalence -- Clinical course -- Conclusion -- References -- Chapter 3: The genetics of Wilson disease -- Introduction -- Inheritance -- ATP7B gene and atpase -- Molecular structure of ATP7B -- ATP7B (P-type atpase) protein structure and function -- Variants in the ATP7B gene -- Regional gene frequency -- Genotype-phenotype correlation -- Clinical molecular diagnosis -- Population screening -- Conclusion -- References -- Chapter 4: Genetic and environmental modifiers of Wilson disease -- Introduction -- COMMD1 gene -- ATOX1 gene -- XIAP gene -- APOE gene -- HFE gene and metal transporter genes DMT1 and ATP7A -- MTHFR gene -- Human prion gene -- Gender -- Iron -- Methyl groups -- Other dietary factors -- Summary and conclusion -- Abbreviations -- References -- Chapter 5: Pathogenesis of Wilson disease -- Introduction -- Copper metabolism -- ATP7B -- Physiologic function -- Consequences of dysfunction -- Liver disease -- Neuropsychiatric disease -- Other symptoms -- Acknowledgments -- References -- Chapter 6: Animal models of Wilson disease -- Introduction -- Copper toxicity and liver disease in rodent models of wilson disease -- Long-Evans Cinnamon rat -- Discovery, gene defect, and natural course of disease -- Liver pathology, ultrastructure, and metabolism -- Neurologic changes and brain pathology -- Therapeutic interventions -- Toxic milk mouse -- Discovery, gene defect, and natural course of disease

Wilson Disease provides a comprehensive guide on this inherited genetic disorder that has devastating consequences for both the liver and neurologic/psychiatric health. This disease is of increasing interest to neurologists, hepatologists, and geneticists, but when the disease is diagnosed early, it is treatable, with patients living normal lives.

This volume describes the molecular pathophysiology of WD and the clinical and pathological effects of copper. Separate sections address both diagnosis and medical and surgical approaches to treatment. Both adult and pediatric perspectives on diagnosis and treatment are addressed, and a section on genetics highlights advances in molecular diagnostics. Patient support groups that can aid in coping with this disease are also discussed, as are animal models for those interested in basic research on cell biology, pathophysiology, and treatment.

• Addresses the molecular pathophysiology of WD and the clinical and pathological effects of copper
• Offers coverage of both diagnosis and medical and surgical approaches to treatment
• Includes perspectives on both adult and pediatric diagnosis and treatment
• Edited work with chapters authored by leaders in the field from around the globe—the broadest, most expert coverage available

"Wilson Disease provides a comprehensive guide on this inherited genetic disorder that has devastating consequences for both the liver and neurologic/psychiatric health. This disease is of increasing interest to neurologists, hepatologists, and geneticists, but when the disease is diagnosed early, it is treatable, with patients living normal lives. This volume describes the molecular pathophysiology of WD and the clinical and pathological effects of copper. Separate sections address both diagnosis and medical and surgical approaches to treatment. Both adult and pediatric perspectives on diagnosis and treatment are addressed, and a section on genetics highlights advances in molecular diagnostics. Patient support groups that can aid in coping with this disease are also discussed, as are animal models for those interested in basic research on cell biology, pathophysiology, and treatment"--Publisher's description