Neurologic Wilson's disease
dc.contributor.author | Lorincz, Matthew T. | en_US |
dc.date.accessioned | 2011-01-13T19:55:26Z | |
dc.date.available | 2011-01-13T19:55:26Z | |
dc.date.issued | 2010-01 | en_US |
dc.identifier.citation | Lorincz, 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.issn | 0077-8923 | en_US |
dc.identifier.issn | 1749-6632 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/78731 | |
dc.description.abstract | 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. | en_US |
dc.format.extent | 458611 bytes | |
dc.format.extent | 3106 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Blackwell Publishing Inc | en_US |
dc.subject.other | Ceruloplasmin | en_US |
dc.subject.other | Copper | en_US |
dc.subject.other | Dysarthria | en_US |
dc.subject.other | Dystonia | en_US |
dc.subject.other | Tremor | en_US |
dc.subject.other | Parkinsonism | en_US |
dc.subject.other | Movement Disorders | en_US |
dc.title | Neurologic Wilson's disease | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Science (General) | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Neurology, University of Michigan Health Systems, Ann Arbor, Michigan, USA | en_US |
dc.identifier.pmid | 20146697 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/78731/1/j.1749-6632.2009.05109.x.pdf | |
dc.identifier.doi | 10.1111/j.1749-6632.2009.05109.x | en_US |
dc.identifier.source | Annals of the New York Academy of Sciences | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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