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