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Semin Neurol 2012; 32(05): 538-543
DOI: 10.1055/s-0033-1334476
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Recognition and Treatment of Neurologic Wilson's Disease

Matthew T. Lorincz
1   Department of Neurology, University of Michigan Health Systems, Ann Arbor, Michigan
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Publication History

Publication Date:
15 May 2013 (online)

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Abstract

As Wilson's disease is both preventable and treatable, the diagnosis must not be missed. Despite this, it is usually misdiagnosed. Misdiagnosis and delay in treatment are clinically relevant because if left untreated, Wilson's disease progresses to hepatic failure or severe neurologic disability, and death. Those adequately treated have a normal life span. Wilson's disease is an autosomal recessive disease caused by mutations in the ATP7B gene. Mutations in ATP7B result in abnormal copper metabolism and subsequent toxic accumulation of copper. The clinical manifestations of neurologic Wilson's disease include variable combinations of dysarthria, dystonia, tremor, parkinsonism, ataxia, and choreoathetosis. Once the possibility of Wilson's disease is considered, diagnosis is straight forward. Currently available treatments, including zinc acetate and trientine, are generally well tolerated and effective.

Keywords

Wilson's disease - ceruloplasmin - copper - dysarthria - dystonia - tremor - parkinsonism - movement disorders