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Wilson’s Disease

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Movement Disorder Emergencies

Part of the book series: Current Clinical Neurology ((CCNEU))

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Abstract

Wilson’s disease (WD) is an autosomal recessive metabolic disorder of impaired copper transport and excretion. Copper overload leads to tissue toxicity from elevated levels of free or non-ceruloplasmin-bound copper. The liver and brain are the two major organs that are affected in WD. Copper overload can be effectively treated with reversal of neurologic or liver symptoms if the therapy is initiated carefully in a timely fashion. Recognition of WD is complicated by the very nonspecific presentations of neurologic symptoms. Patients may exhibit variable combinations of tremor, dystonia, parkinsonism, chorea, or ataxia. Consequently, early diagnosis of WD is critical to successful treatment. Available therapies include chelators such as penicillamine and trientine and zinc salt. A considerable proportion of patients with neurologic WD experience paradoxical worsening with catastrophic functional consequences. Irreversible severe dystonia or status dystonicus may be observed, a true life-threatening movement disorder emergency.

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Authors and Affiliations

  1. Department of Neurology, University of Louisville Medical Center, Louisville, KY, USA

    Peter Hedera

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  1. Peter Hedera
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Correspondence to Peter Hedera .

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Editors and Affiliations

  1. Department of Neurology, NYU Langone Health, New York, NY, USA

    Steven J. Frucht

Electronic Supplementary Material

Eight patients with Wilson’s disease are presented. The first patient illustrates Kayser-Fleisher rings, visible as a greenish brown discoloration of the periphery of the iris, thicker superiorly and inferiorly. The next patient demonstrates KF rings visible in his brown irises with side illumination. He presented with a 10-year history of an incorrect diagnosis of essential tremor, displaying a cerebellar outflow tremor of the arms. The next young woman displays parkinsonism, a mild risor sardonicus, and dystonic posturing of the hands. The following patient was admitted to the psychiatric ward with severe depression, and was found to have striatal lesions on MRI and hepatic failure necessitating a liver transplant. The following young man demonstrates a combination of dystonia and parkinsonism with a risor facial posture. The next young woman demonstrates dystonia, principally affecting her right foot when walking, with a dystonic tremor. The following young man demonstrates a more severe example of dystonia and parkinsonism. The final woman, seen in the emergency room, displays a full-blown picture of Wilson’s, with KF rings, scleral icterus, wide gaping jaw opening dystonia, and marked axial and appendicular dystonia. (MP4 754866 kb)

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Hedera, P. (2022). Wilson’s Disease. In: Frucht, S.J. (eds) Movement Disorder Emergencies. Current Clinical Neurology. Humana, Cham. https://doi.org/10.1007/978-3-030-75898-1_25

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  • DOI: https://doi.org/10.1007/978-3-030-75898-1_25

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