Neurologic Wilson's disease.
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.
Department of Neurology, University of Michigan Health Systems, Ann Arbor, Michigan, USA. Lorincz@umich.edu
Matthew T
MT
Lorincz
D000251:Adenosine Triphosphatases / Q000235:genetics; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001259:Ataxia / Q000209:etiology; D027682:Cation Transport Proteins / Q000235:genetics; D002648:Child; D003072:Cognition Disorders / Q000209:etiology; D003300:Copper / Q000378:metabolism; D000073840:Copper-Transporting ATPases; D004401:Dysarthria / Q000209:etiology; D004421:Dystonia / Q000209:etiology; D005128:Eye Diseases / Q000209:etiology; D006527:Hepatolenticular Degeneration / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008107:Liver Diseases / Q000209:etiology / Q000473:pathology; D009154:Mutation
D027682:Cation Transport Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases