Article
Neurologic Wilson's disease.
Annals of the New York Academy of Sciences - 1 Jan 2010
Lorincz Matthew T
Abstract excerpt
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...
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