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Related Experiment Video

Updated: Apr 27, 2026

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Small fiber dysfunction in patients with Wilson's disease.

Francisco de Assis A Gondim1, Davi F Araújo2, Italo S Oliveira2

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|July 9, 2014
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Summary

This study found that some patients with Wilson's disease (WD) experience small fiber neuropathy, indicated by abnormal skin wrinkling tests. This suggests a potential link between WD and autonomic dysfunction in affected individuals.

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Area of Science:

  • Neurology
  • Genetics
  • Autonomic Medicine

Background:

  • Wilson's disease (WD) is a genetic disorder causing copper accumulation.
  • Neuropsychiatric symptoms are common in WD, but autonomic dysfunction is less frequently reported.
  • Parkinsonism can occur in WD and may respond to levodopa treatment.

Purpose of the Study:

  • To investigate evidence of small fiber and/or autonomic dysfunction in patients with Wilson's disease and levodopa-responsive parkinsonism.
  • To describe findings in a cohort of four WD patients with neuromuscular and autonomic assessments.

Main Methods:

  • Retrospective chart review of four patients diagnosed with Wilson's disease.
  • Evaluation included neuromuscular dysfunction assessment and the standardized Sudomotor Function Test (SWT) or skin wrinkling test.
  • Nerve conduction studies (NCS) and electromyography (EMG) were performed.

Main Results:

  • Four patients (2 male, 2 female; mean age 33 years) with WD and parkinsonism were evaluated.
  • Two patients reported significant sensory complaints, and two reported significant autonomic complaints, including syncope.
  • NCS/EMG results were normal in all patients, but the skin wrinkling test was abnormal in 50% of participants.

Conclusions:

  • A subset of patients with Wilson's disease may exhibit small fiber neuropathy, as evidenced by abnormal skin wrinkling test results.
  • These findings suggest that small fiber and autonomic dysfunction can be present in WD patients with parkinsonism.