An unusual gait following the discovery of a new disease

Pract Neurol. 2011 Apr;11(2):81-4. doi: 10.1136/jnnp.2011.242230.

Abstract

A 39-year-old woman presented to the neurology clinic with an abnormal gait. Subsequent investigations confirmed a rare neurodegenerative disease. This case highlights the key clinical features and diagnostic approach to neuroferritinopathy, and describes the discovery of the disease in a family from Cumbria in the north west of England.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Basal Ganglia Diseases / complications
  • Basal Ganglia Diseases / diagnosis*
  • Basal Ganglia Diseases / genetics
  • Basal Ganglia Diseases / pathology
  • Dystonia / etiology*
  • Dystonia / genetics
  • Dystonia / pathology
  • Female
  • Gait Disorders, Neurologic / etiology*
  • Gait Disorders, Neurologic / genetics
  • Gait Disorders, Neurologic / pathology
  • Humans
  • Iron Metabolism Disorders / complications
  • Iron Metabolism Disorders / diagnosis*
  • Iron Metabolism Disorders / genetics
  • Iron Metabolism Disorders / pathology
  • Neuroaxonal Dystrophies / complications
  • Neuroaxonal Dystrophies / diagnosis
  • Neuroaxonal Dystrophies / genetics
  • Neuroaxonal Dystrophies / pathology

Supplementary concepts

  • Neuroferritinopathy