Wilson Disease Questions & Answers

1. Dusek P, Roos PM, Litwin T, Schneider SA, Flaten TP, Aaseth J. The neurotoxicity of iron, copper and manganese in Parkinson's and Wilson's diseases. J Trace Elem Med Biol. 2015 Jul. 31:193-203. [QxMD MEDLINE Link].

2. Rodriguez-Castro KI, Hevia-Urrutia FJ, Sturniolo GC. Wilson's disease: A review of what we have learned. World J Hepatol. 2015 Dec 18. 7(29):2859-70. [QxMD MEDLINE Link].

3. Schilsky ML. Wilson disease: current status and the future. Biochimie. 2009 Oct. 91(10):1278-81. [QxMD MEDLINE Link].

4. Kieffer DA, Medici V. Wilson disease: at the crossroads between genetics and epigenetics-A review of the evidence. Liver Res. 2017 Sep. 1(2):121-30. [QxMD MEDLINE Link].

5. Bowcock AM, Farrer LA, Hebert JM, et al. Eight closely linked loci place the Wilson disease locus within 13q14-q21. Am J Hum Genet. 1988 Nov. 43(5):664-74. [QxMD MEDLINE Link]. [Full Text].

6. Stapelbroek JM, Bollen CW, van Amstel JK, et al. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. J Hepatol. 2004 Nov. 41(5):758-63. [QxMD MEDLINE Link].

7. Stuehler B, Reichert J, Stremmel W, Schaefer M. Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. J Mol Med (Berl). 2004 Sep. 82(9):629-34. [QxMD MEDLINE Link].

8. Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study. Gut. 2007 Jan. 56(1):115-20. [QxMD MEDLINE Link]. [Full Text].

9. Manolaki N, Nikolopoulou G, Daikos GL, et al. Wilson disease in children: analysis of 57 cases. J Pediatr Gastroenterol Nutr. 2009 Jan. 48(1):72-7. [QxMD MEDLINE Link].

10. Roberts EA, Schilsky ML; American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008 Jun. 47(6):2089-111. [QxMD MEDLINE Link].

11. Yoshitoshi EY, Takada Y, Oike F, et al. Long-term outcomes for 32 cases of Wilson's disease after living-donor liver transplantation. Transplantation. 2009 Jan 27. 87(2):261-7. [QxMD MEDLINE Link].

12. Schilsky ML. Wilson disease: diagnosis, treatment, and follow-up. Clin Liver Dis. 2017 Nov. 21(4):755-67. [QxMD MEDLINE Link].

13. Li WJ, Chen C, You ZF, Yang RM, Wang XP. Current drug managements of Wilson's disease: from west to east. Curr Neuropharmacol. 2016. 14(4):322-5. [QxMD MEDLINE Link]. [Full Text].

14. Walshe JM. Copper: its role in the pathogenesis of liver disease. Semin Liver Dis. 1984 Aug. 4(3):252-63. [QxMD MEDLINE Link].

15. Dastych M, Prochazkova D, Pokorny A, Zdrazil L. Copper and zinc in the serum, urine, and hair of patients with Wilson's disease treated with penicillamine and zinc. Biol Trace Elem Res. 2010 Mar. 133(3):265-9. [QxMD MEDLINE Link].

16. Langwinska-Wosko E, Litwin T, Dziezyc K, Czlonkowska A. The sunflower cataract in Wilson's disease: pathognomonic sign or rare finding?. Acta Neurol Belg. 2016 Sep. 116(3):325-8. [QxMD MEDLINE Link].

17. Soni D, Shukla G, Singh S, Goyal V, Behari M. Cardiovascular and sudomotor autonomic dysfunction in Wilson's disease--limited correlation with clinical severity. Auton Neurosci. 2009 Dec 3. 151(2):154-8. [QxMD MEDLINE Link].

18. Dziezyc K, Litwin T, Chabik G, Czlonkowska A. Measurement of urinary copper excretion after 48-h d-penicillamine cessation as a compliance assessment in Wilson's disease. Funct Neurol. 2015 Oct-Dec. 30(4):264-8. [QxMD MEDLINE Link].

19. Tarnacka B, Szeszkowski W, Golebiowski M, Czlonkowska A. Metabolic changes in 37 newly diagnosed Wilson's disease patients assessed by magnetic resonance spectroscopy. Parkinsonism Relat Disord. 2009 Sep. 15(8):582-6. [QxMD MEDLINE Link].

20. Sen S, Felldin M, Steiner C, et al. Albumin dialysis and Molecular Adsorbents Recirculating System (MARS) for acute Wilson's disease. Liver Transpl. 2002 Oct. 8(10):962-7. [QxMD MEDLINE Link].

21. Weiss KH, Thurik F, Gotthardt DN, et al. Efficacy and safety of oral chelators in treatment of patients with Wilson disease. Clin Gastroenterol Hepatol. 2013 Aug. 11(8):1028-1035.e2. [QxMD MEDLINE Link].

22. Weiss KH, Gotthardt DN, Klemm D, et al. Zinc monotherapy is not as effective as chelating agents in treatment of Wilson disease. Gastroenterology. 2011 Apr. 140(4):1189-98.e1. [QxMD MEDLINE Link].

23. da Costa Mdo D, Spitz M, Bacheschi LA, Leite CC, Lucato LT, Barbosa ER. Wilson's disease: two treatment modalities. Correlations to pretreatment and posttreatment brain MRI. Neuroradiology. 2009 Oct. 51(10):627-33. [QxMD MEDLINE Link].

24. Brewer GJ, Askari F, Dick RB, et al. Treatment of Wilson's disease with tetrathiomolybdate: V. control of free copper by tetrathiomolybdate and a comparison with trientine. Transl Res. 2009 Aug. 154(2):70-7. [QxMD MEDLINE Link].

25. Chaudhry HS, Anilkumar AC. Wilson Disease. StatPearls [Internet]. 2019 Jan 11. 2018:[QxMD MEDLINE Link]. [Full Text].

26. Gerosa C, Fanni D, Congiu T, et al. Liver pathology in Wilson's disease: from copper overload to cirrhosis. J Inorg Biochem. 2019 Jan 15. 193:106-11. [QxMD MEDLINE Link].

Richard K Gilroy, MD, FRACP Gastroenterologist, Intermountain Healthcare

Disclosure: Received salary from gilead, NPS pharmaceuticals, salix pharmaceuticals, AbbVie for speaking and teaching.

Rahil Shah, MD Consulting Staff, Lebanon Endoscopy Center

Rahil Shah, MD is a member of the following medical societies: American College of Gastroenterology, American Society for Gastrointestinal Endoscopy

Disclosure: Received consulting fee from Takeda for speaking and teaching.

Michael H Piper, MD Clinical Assistant Professor, Department of Internal Medicine, Division of Gastroenterology, Wayne State University School of Medicine; Consulting Staff, Digestive Health Associates, PLC

Michael H Piper, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Gastroenterology, American College of Physicians, Michigan State Medical Society

Disclosure: Nothing to disclose.

Praveen K Roy, MD, MSc Clinical Assistant Professor of Medicine, University of New Mexico School of Medicine

Praveen K Roy, MD, MSc is a member of the following medical societies: Alaska State Medical Association, American Gastroenterological Association

Disclosure: Nothing to disclose.

Erawati V Bawle, MD, FAAP, FACMG Retired Professor, Department of Pediatrics, Wayne State University School of Medicine

Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and American Society of Human Genetics

Disclosure: Nothing to disclose.

Selim R Benbadis, MD Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, Tampa General Hospital, University of South Florida College of Medicine

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association

Disclosure: UCB Pharma Honoraria Speaking, consulting; Lundbeck Honoraria Speaking, consulting; Cyberonics Honoraria Speaking, consulting; Glaxo Smith Kline Honoraria Speaking, consulting; Sleepmed/DigiTrace Honoraria Speaking, consulting; Sunovion Consulting fee None

Bruce Buehler, MD Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

Beth A Carter, MD Assistant Professor of Pediatrics, Department of Pediatric Gastroenterology, Hepatology and Nutrition, Baylor College of Medicine; Medical Director, Pediatric Intestinal Rehabilitation Program, Texas Children's Hospital

Beth A Carter, MD is a member of the following medical societies: American Gastroenterological Association, American Liver Foundation, and North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

Disclosure: Nothing to disclose.

Celia H Chang, MD Health Sciences Clinical Professor, Chief, Division of Child Neurology, Department of Neurology/MIND Institute, University of California, Davis, School of Medicine

Celia H Chang is a member of the following medical societies: American Academy of Neurology and Child Neurology Society

Disclosure: Nothing to disclose.

Robert J Fingerote, MD, MSc, FRCPC Consultant, Clinical Evaluation Division, Biologic and Gene Therapies, Directorate Health Canada; Consulting Staff, Department of Medicine, Division of Gastroenterology, York Central Hospital, Ontario

Robert J Fingerote, MD, MSc, FRCPC is a member of the following medical societies: American Association for the Study of Liver Diseases, American Gastroenterological Association, Canadian Medical Association, Ontario Medical Association, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Nestor Galvez-Jimenez, MD, MSc, MHA Chairman, Department of Neurology, Program Director, Movement Disorders, Department of Neurology, Division of Medicine, Cleveland Clinic Florida

Nestor Galvez-Jimenez, MD, MSc, MHA is a member of the following medical societies: American Academy of Neurology, American College of Physicians, and Movement Disorders Society

Disclosure: Nothing to disclose.

Christopher Luzzio, MD Clinical Assistant Professor, Department of Neurology, University of Wisconsin at Madison School of Medicine and Public Health

Christopher Luzzio, MD is a member of the following medical societies: American Academy of Neurology

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

• Print this section
• Print the entire contents of
• Print the entire contents of article