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Neurologic Wilson's disease

dc.contributor.authorLorincz, Matthew T.en_US
dc.date.accessioned2011-01-13T19:55:26Z
dc.date.available2011-01-13T19:55:26Z
dc.date.issued2010-01en_US
dc.identifier.citationLorincz, Matthew T.; (2010). "Neurologic Wilson's disease." Annals of the New York Academy of Sciences 1184(1 The Year in Neurology 2 ): 173-187. <http://hdl.handle.net/2027.42/78731>en_US
dc.identifier.issn0077-8923en_US
dc.identifier.issn1749-6632en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/78731
dc.description.abstractDespite 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.en_US
dc.format.extent458611 bytes
dc.format.extent3106 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.publisherBlackwell Publishing Incen_US
dc.subject.otherCeruloplasminen_US
dc.subject.otherCopperen_US
dc.subject.otherDysarthriaen_US
dc.subject.otherDystoniaen_US
dc.subject.otherTremoren_US
dc.subject.otherParkinsonismen_US
dc.subject.otherMovement Disordersen_US
dc.titleNeurologic Wilson's diseaseen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelScience (General)en_US
dc.subject.hlbtoplevelScienceen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Neurology, University of Michigan Health Systems, Ann Arbor, Michigan, USAen_US
dc.identifier.pmid20146697en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/78731/1/j.1749-6632.2009.05109.x.pdf
dc.identifier.doi10.1111/j.1749-6632.2009.05109.xen_US
dc.identifier.sourceAnnals of the New York Academy of Sciencesen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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