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