Seizures and Shakes
Keyword(s):
Wilson’s disease is an autosomal recessive, treatable heredodegenerative disorder characterized by excessive deposition of copper in the liver, brain, and other tissues including the kidneys, pancreas, and joints. Early recognition of the disorder, which can present with a variety of movement disorders and neuropsychiatric phenomena, is critical to avoid irreversible end organ damage through the initiation of copper chelating agents. Diagnosis relies first on demonstrating evidence of brain iron deposition on magnetic resonance imaging of brain and elevated urinary copper excretion in the appropriate clinical context. Genetic testing for mutations in the ATP7B gene will identify a mutation in up to 90% of cases.
2017 ◽
Vol 117
(4)
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pp. 873-878
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1967 ◽
Vol 123
(9)
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pp. 410-415
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Keyword(s):
1995 ◽
Vol 8
(7)
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pp. 942-948
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2018 ◽
Vol 33
(11)
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pp. 713-717
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2003 ◽
Vol 307
(3)
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pp. 939-946
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2015 ◽
Vol 30
(4)
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pp. 1009-1016
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