Wilson’s disease: pathology

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Wilson’s disease: pathology. This is caused by mutations in the ATP7B gene on chromosome 13. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the ATP7B gene on chromosome 13
  • ATP7B encodes copper transporting adenosine triphosphate 2
  • There are >500 pathogenic mutations
  • There are about 100 non-pathogenic mutations
  • The transmission is autosomal recessive

Epidemiology

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Pathology

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References

  1. Lorincz MT. Neurologic Wilson’s disease. Ann N Y Acad Sci 2010; 1184:173-187.
  2. Bandmann O, Weiss KH, Kaler SG. Wilson’s disease and other neurological copper disorders. Lancet Neurol 2015; 14:103-113.
  3. Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology 2008; 47:2089-2111.
  4. Hedera P. Update on the clinical management of Wilson's disease. Appl Clin Genet 2017; 10:9-19. 
  5. Coffey AJ, Durkie M, Hague S, et al. A genetic study of Wilson’s disease in the United Kingdom. Brain 2013; 136:1476-1487.

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