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Wilson disease: neurologic features.

Anna Członkowska1, Tomasz Litwin2, Grzegorz Chabik2

  • 1Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Experimental and Clinical Pharmacology, Medical University of Warsaw, Poland.

Handbook of Clinical Neurology
|April 24, 2017
PubMed
Summary

Wilson disease (WD) is a neurological disorder with diverse symptoms that can lead to misdiagnosis. Early diagnosis and copper-chelating treatment are crucial for improving patient outcomes and preventing severe neurological damage.

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Area of Science:

  • Neurology
  • Neurodegenerative Diseases

Background:

  • Wilson disease (WD) is a rare, inherited neurodegenerative disorder.
  • It is characterized by excessive copper accumulation in the liver, brain, and other organs.
  • Neurologic manifestations are diverse and can mimic other conditions, leading to diagnostic challenges.

Purpose of the Study:

  • To provide a comprehensive overview of the neurologic features of Wilson disease.
  • To detail the diagnostic evaluation process for neurologic involvement in WD.
  • To highlight the importance of early diagnosis and treatment for patient prognosis.

Main Methods:

  • Review of clinical manifestations of neurologic Wilson disease.
  • Description of diagnostic tools including ophthalmologic examinations, brain neuroimaging (e.g., MRI), and laboratory tests.
Keywords:
Kayser–Fleischer ringWilson diseasedystonianeuroimagingneurologic scalesparkinsonismtremor

Related Experiment Videos

  • Discussion of the spectrum of neurological symptoms.

    • Main Results:

    • Neurologic symptoms in WD are highly variable, including tremor, bradykinesia, rigidity, dystonia, chorea, dysarthria, and dysphagia.
    • Early diagnosis and prompt anticopper treatment significantly improve patient health outcomes.
    • Delayed diagnosis can lead to irreversible neurological damage and potentially fatal outcomes.

    Conclusions:

    • Accurate and timely diagnosis of Wilson disease is critical for effective management.
    • A thorough neurologic evaluation, complemented by specific investigations, is essential for identifying WD.
    • Prompt initiation of anticopper therapy can halt disease progression and improve quality of life.