Neurologic Wilson's disease

MT Lorincz - Annals of the New York Academy of Sciences, 2010 - Wiley Online Library
Annals of the New York Academy of Sciences, 2010Wiley Online Library
Despite a long history, Wilson's disease, an autosomal recessive disease caused by
mutations in the ATP7B gene, remains a commonly misdiagnosed import disease. Mutations
in ATP7B result in abnormal copper metabolism and subsequent toxic accumulation of
copper. Clinical manifestations of neurologic Wilson's disease include variable
combinations of dysarthria, dystonia, tremor, and choreoathetosis. Among
neurodegenerative diseases, it is unusual in that misdiagnosis and delay in treatment are …
Despite a long history, Wilson's disease, an autosomal recessive disease caused by mutations in the ATP7B gene, remains a commonly misdiagnosed import disease. Mutations in ATP7B result in abnormal copper metabolism and subsequent toxic accumulation of copper. Clinical manifestations of neurologic Wilson's disease include variable combinations of dysarthria, dystonia, tremor, and choreoathetosis. Among neurodegenerative diseases, it is unusual in that misdiagnosis and delay in treatment are clinically relevant because treatments can prevent and cure Wilson's disease, if they are given appropriately. If left untreated, Wilson's disease progresses to hepatic failure or severe neurologic disability and death, while those adequately treated have normal life spans. This review focuses on the neurologic features of Wilson's disease, its diagnosis, and treatment options.
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