Wilson Disease - 1st Edition - ISBN: 9780444636256, 9780444636270

Wilson Disease, Volume 142

1st Edition

eBook ISBN: 9780444636270
Hardcover ISBN: 9780444636256
Imprint: Elsevier
Published Date: 10th May 2017
Page Count: 264
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Table of Contents

Chapter 1: History of Wilson disease: a personal account
J M. Walshe

  • Abstract

Chapter 2: Epidemiology and introduction to the clinical presentation of Wilson disease
Christine Lo and Oliver Bandmann

  • Abstract
  • Introduction
  • Biochemical screening for the study of prevalence
  • Modern genetics studies
  • Population isolates
  • Genetic versus clinical prevalence
  • Clinical course
  • Conclusion

Chapter 3: The genetics of Wilson disease
Sihoun Hahn

  • Abstract
  • 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

Chapter 4: Genetic and environmental modifiers of Wilson disease
Valentina Medici and Karl Heinz Weiss

  • Abstract
  • 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

Chapter 5: Pathogenesis of Wilson disease
Petr Dusek, Radan Bruha and Ivo Florin Scheiber

  • Abstract
  • Introduction
  • Copper metabolism
  • ATP7B
  • Liver disease
  • Neuropsychiatric disease
  • Other symptoms
  • Acknowledgments

Chapter 6: Animal models of Wilson disease
Dominik Huster and Valentina Medici

  • Abstract
  • Introduction
  • Copper toxicity and liver disease in rodent models of wilson disease
  • Comparison of rodent models for wilson disease
  • Other animal models of copper accumulation and toxicity in the liver and brain
  • Research perspectives and future therapy developments
  • Abbreviations
  • Acknowledgment

Chapter 7: Wilson disease – liver pathology
Maciej Pronicki

  • Abstract
  • Pathology of wilson disease
  • Light microscopic detection of copper deposits
  • Ultrastructure
  • Summary

Chapter 8: Wilson disease: brain pathology
France Woimant, Aurelia Poujois and Jacqueline Mikol

  • Abstract
  • Introduction
  • Pathologic changes
  • Copper in the brain
  • Iron, manganese, and other causative factors
  • Differential diagnosis
  • Conclusions
  • Acknowledgment

Chapter 9: Hepatic features of Wilson disease
Michael L. Schilsky, Aftab Ala and Salih Boga

  • Abstract
  • Hepatic features of Wilson disease
  • The spectrum of liver disease in Wilson disease
  • Physical examination and laboratory findings
  • Noninvasive assessment of Wilson disease
  • Wilson disease patients with severe liver disease
  • Concomitant liver disease with Wilson disease
  • Hepatocellular carcinoma and Wilson disease
  • Prognosis of patients with Wilson disease
  • Conclusions

Chapter 10: Wilson disease: neurologic features
Anna Czlonkowska, Tomasz Litwin and Grzegorz Chabik

  • Abstract
  • Introduction
  • The neurologic classifications of disease
  • Tremor
  • Dystonia
  • Parkinsonism
  • Ataxia
  • Chorea
  • Dysarthria
  • Dysphagia
  • Drooling
  • Gait and posture
  • Epilepsy
  • Neuropathy
  • Autonomic impairment
  • Olfactory dysfunction
  • Other neurologic features of wilson disease
  • Ophthalmologic signs of wilson's disease
  • Clinical scales assessing neurologic deficits in wilson disease
  • Neuroimaging in wilson disease
  • Other examinations
  • Conclusions

Chapter 11: Cognitive and psychiatric symptoms in Wilson disease
Paula C. Zimbrean and Joanna Seniow

  • Abstract
  • Introduction
  • Physiologic basis for psychiatric and cognitive symptoms in wilson disease
  • Evaluation of cognitive impairment and psychiatric symptoms in wilson disease
  • Cognitive function in patients with wilson disease
  • Psychiatric presentations in wilson disease
  • Treatment of psychiatric symptoms in wilson disease
  • Conclusion

Chapter 12: Wilson disease in children
Eve A. Roberts and Piotr Socha

  • Abstract
  • Developmental physiology of copper
  • Age incidence
  • Clinical presentations
  • Diagnosis
  • Treatment
  • Screening: newborns; first-degree relatives
  • Look-alike pediatric disorders
  • Genotype–phenotype correlation
  • Summary

Chapter 13: Other organ involvement and clinical aspects of Wilson disease
Karolina Dziezyc, Tomasz Litwin and Anna Czlonkowska

  • Abstract
  • Introduction
  • The kidneys
  • The osteoarticular system
  • Cardiovascular system
  • Endocrinology
  • Hematology
  • Dermatology
  • Other clinical aspects of wilson disease

Chapter 14: Diagnosis of Wilson disease
Peter Ferenci

  • Abstract
  • Introduction
  • Physical signs and clinical presentations
  • Liver disease
  • Neurologic disease
  • Laboratory parameters
  • Acute liver failure due to wilson disease
  • Family screening
  • Differential diagnosis
  • Leipzig score

Chapter 15: Wilson disease – currently used anticopper therapy
Anna Czlonkowska and Tomasz Litwin

  • Abstract
  • Pharmacologic treatment of wilson disease
  • Current drugs used in wilson disease treatment
  • Supplementary therapies for wilson disease
  • Special clinical situations during wilson disease treatment
  • Conclusion and general rules for treating wilson disease

Chapter 16: Liver transplantation for Wilson disease
Michael L. Schilsky

  • Abstract
  • Introduction
  • Indications for liver transplantation
  • Management of the patient with acute liver failure due to Wilson disease
  • Liver transplantation for chronic liver failure and end-stage liver disease due to Wilson disease
  • Liver transplantation for neuropsychiatric manifestations of Wilson disease
  • Organs allocation policy for liver transplantation and Wilson disease
  • Options for liver transplantation for Wilson disease
  • Outcomes and monitoring after liver transplantation
  • Immunosuppression after liver transplantation in Wilson disease patients
  • Conclusion: the future of liver transplantation for Wilson disease

Chapter 17: Wilson disease: symptomatic liver therapy
Wolfgang Stremmel and Karl Heinz Weiss

  • Abstract
  • Introduction
  • Steatosis, liver fibrosis, and compensated liver cirrhosis
  • Decompensated liver cirrhosis
  • Conclusion

Chapter 18: Symptomatic treatment of neurologic symptoms in Wilson disease
Tomasz Litwin, Petr Dusek and Anna Czlonkowska

  • Abstract
  • Introduction
  • Tremor
  • Dystonia
  • Parkinsonism
  • Chorea
  • Neurosurgical treatment of wilson disease
  • Supportive therapy
  • Effect of liver transplantation on neurologic wd symptoms
  • Conclusions
  • Acknowledgments

Chapter 19: Novel perspectives on Wilson disease treatment
Christian Rupp, Wolfgang Stremmel and Karl Heinz Weiss

  • Abstract
  • Introduction
  • Response-guided therapy
  • Tetrathiomolybdate
  • Other drugs
  • Mutation-specific therapy
  • Gene transfer
  • Hepatocyte/tissue transfer
  • Conclusion

Chapter 20: Patient support groups in the management of Wilson disease
Michael L. Schilsky and Mary L. Graper

  • Abstract
  • Introduction on patient support groups for rare diseases
  • History and profile of the wilson disease association
  • Other worldwide wilson disease organizations
  • Other organizations that support wilson disease
  • Specific challenges faced in the support of wilson disease patients
  • The patient perspective
  • Future goals
  • Disclosures


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.

Key Features

  • 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


Researchers, clinicians and advanced students in clinical neurology, with additional interest in hepatology and genetics


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