Small fiber dysfunction in patients with Wilson's disease

Arq Neuropsiquiatr. 2014 Aug;72(8):592-5. doi: 10.1590/0004-282x20140090. Epub 2014 Jul 4.

Abstract

Objective: Patients with Wilson's disease (WD) may develop a wide variety of neuropsychiatric symptoms, but there are few reports of autonomic dysfunction. Here, we described evidence of small fiber and/or autonomic dysfunction in 4 patients with WD and levodopa-responsive parkinsonism.

Method: We reviewed the charts of 4 patients with WD who underwent evaluation for the presence of neuromuscular dysfunction and water-induced skin wrinkling test (SWT).

Results: Two men and 2 women (33±3.5 years) with WD were evaluated. They all had parkinsonism at some point during their disease course. Parkinsonism on patient 4 almost completely subsided with treatment of WD. Two patients had significant sensory and 2 significant autonomic complaints, including syncopal spells. NCS/EMG was normal in all but SWT was abnormal in half of them (mean 4-digit wrinkling of 0.25 and 1).

Discussion: A subset of patients with WD exhibit evidence of abnormal skin wrinkling test (small fiber neuropathy).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Electromyography
  • Female
  • Hepatolenticular Degeneration / physiopathology*
  • Humans
  • Male
  • Nerve Fibers / physiology*
  • Neural Conduction / physiology*
  • Peripheral Nerves / physiopathology*
  • Young Adult