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Wilson’s Disease: Neurological Aspects, Clinical Manifestations, and Treatment Considerations

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Movement Disorders Curricula

Abstract

Wilson’s disease (WD) or hepatolenticular degeneration is an autosomal recessive genetic disorder caused by mutations in the ATP7B gene which leads to accumulation of copper primarily in the liver and brain. Clinical features include neuropsychiatric symptoms, liver disease, Kayser–Fleischer ring, and manifestations from other organs, whereas biochemistry reveals increased urinary copper excretion, reduced levels of serum ceruloplasmin, and high concentration of copper in the liver. The diagnosis is based on the combination of clinical features, biochemical and MRI findings, and the results of mutation analysis. However, WD remains a diagnostic challenge for the physician. WD is progressive and fatal if left untreated. Available treatments include D-Penicillamine, trientine, zinc, and tetrathiomolybdate.

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Author information

Authors and Affiliations

  1. 3rd University Department of Neurology, G. Papanikolaou Hospital, Exohi, Thessaloniki, 57010, Greece

    Sevasti Bostantjopoulou

  2. Neurology, Mediterraneo, Spirou Merkouri 25, Athens, Attiki, 11634, Greece

    Pantelis Stathis MD, PhD

  3. Department of Neurology, University Hospital of Ioannina, 30, 28th October str, Ioannina, 45444, Greece

    Spiros Konitsiotis MD, PhD (Professor of Neurology)

Authors
  1. Sevasti Bostantjopoulou
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  2. Pantelis Stathis MD, PhD
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  3. Spiros Konitsiotis MD, PhD
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Corresponding author

Correspondence to Sevasti Bostantjopoulou .

Editor information

Editors and Affiliations

  1. Faculty of Medicine, Transilvania University, Brasov, Romania

    Cristian Falup-Pecurariu

  2. Laboratory of Clinical Pharmacology and Therapeutics, Faculty of Medicine, Lisbon, Portugal

    Joaquim Ferreira

  3. National Center of Epidemiology and CIBERNED, Carlos III Institute of Health, Madrid, Spain

    Pablo Martinez-Martin

  4. Centre of Excellence, King’s College London, National Parkinson Foundation Centre of Excellence King’s College, London, United Kingdom

    Kallol Ray Chaudhuri

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Bostantjopoulou, S., Stathis, P., Konitsiotis, S. (2017). Wilson’s Disease: Neurological Aspects, Clinical Manifestations, and Treatment Considerations. In: Falup-Pecurariu, C., Ferreira, J., Martinez-Martin, P., Chaudhuri, K. (eds) Movement Disorders Curricula. Springer, Vienna. https://doi.org/10.1007/978-3-7091-1628-9_33

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  • DOI: https://doi.org/10.1007/978-3-7091-1628-9_33

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