Wilson Disease

Wilson Disease

1st Edition - April 18, 2017

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  • Editors: Anna Czlonkowska, Michael Schilsky
  • Hardcover ISBN: 9780444636256
  • eBook ISBN: 9780444636270

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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

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

Product details

  • No. of pages: 264
  • Language: English
  • Copyright: © Elsevier 2017
  • Published: April 18, 2017
  • Imprint: Elsevier
  • Hardcover ISBN: 9780444636256
  • eBook ISBN: 9780444636270

About the Editors

Anna Czlonkowska

Anna Czlonkowska
Anna Członkowska MD Prof earned her Diploma of Medicine at Warsaw Medical Academy before she completed her Doctor of Medicine at the Institute of Psychiatry and Neurology, Warsaw. She received additional training at the Boards of Clinical Neurology at the Institute of Psychiatry and Neurology in Warsaw and Habilitation in Neurology at the Warsaw Medical Academy. She has also received several prestigious fellowships, ranging from a British Council Grant for Neuroimmunology to a Neurobiology Fellowship funded by a Max Planck Society Grant. Between 1985-2013, she served as Professor and Head of the Second Department of Neurology at the Institute of Psychiatry and Neurology in Warsaw. She currently is the professor in this department and Head of the Study Group at the Department of Experimental and Clinical Pharmacology, Medical University of Warsaw. Additionally, Członkowska served as a member of the International Consortium at EUROWILSON. Since 1969, Członkowska has not only cared for a large cohort of 850 patients with Wilsons Disease, created a research database to document their clinical features and evaluate the clinical course of WD (with a focus on the efficacy of current therapies), but has also completed basic research on the pathogenesis of WD. She collaborates with WD centers across Europe.). Her contributions to clinical science extend well beyond Wilson’s Disease and she has been active in research and clinical trials in stroke, multiple sclerosis and neurorehabilitation. Finally, Czlonkowska has supported the career development of many young clinicians and clinical academics whose success owes much to her leadership and support.

Affiliations and Expertise

2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland

Michael Schilsky

Michael Schilsky
Michael Schilsky, MD, became medical director of liver transplantation at Yale-New Haven Hospital in 2007, with appointments in medicine and surgery at the Yale School of Medicine. Dr. Schilsky received his medical degree from the University of Chicago, Pritzker School of Medicine. He completed his residency and fellowship in gastroenterology and research training in liver diseases at Albert Einstein College of Medicine and Montefiore Medical Center. His clinical and research interests include transplant hepatology, inherited metabolic disorders of the liver, Wilson disease and hemochromatosis. Dr. Schilsky previously served as director of the liver medicine clinic at the Recanati/Miller Transplantation Institute at Mount Sinai Medical Center and medical director for liver transplantation at the New York Weill Cornell Medical Center, where he developed a comprehensive program for the care and evaluation of liver transplant patients. Dr. Schilsky coauthored the AASLD practice guidelines for Wilson disease and is author of numerous original manuscripts and reviews.

Affiliations and Expertise

Medical Director, Adult Liver Transplant, Yale-New Haven Transplantation Center, New Haven, CT, USA

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