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Turkish Journal of Neurology Indexed By
  Wilson’s Disease [Turk J Neurol]
Turk J Neurol. 2013; 19(4): 122-127 | DOI: 10.4274/Tnd.60566  

Wilson’s Disease

Figen Hanağası1, Haşmet A. Hanağası2
1Gayrettepe Florence Nightingale Hospital, Department Of Neurology
2İstanbul Faculty Of Medicine, Department Of Neurology

Wilson’s disease is a autosomal recessive disorder of copper metabolism. Clinical phenotypes include hepatic, haemolytic, neurologic and psychiatric diseases. Wilson’s disease is caused by mutations in the ATP7B gene. ATP7B encodes a hepatic copper-transporting protein, which is important for copper excretion into bile. Neurological symptoms in Wilson’s disease include variable combinations of dysathria, ataxia, parkinsonism, dystonia and tremor. Wilson’s disease is lethal if untreated. This review discusses the epidemiology, genetics, clinical features, etiopathophysiology, diagnostic tests, and treatment of Wilson’s disease.

Keywords: Wilson’s disease, liver, neurological symptoms, Kayser-Fleischer rings

Figen Hanağası, Haşmet A. Hanağası. Wilson’s Disease. Turk J Neurol. 2013; 19(4): 122-127

Corresponding Author: Figen Hanağası, Türkiye

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