A patient with pantothenate kinase-associated neurodegeneration and supranuclear gaze palsy

Clin Neurol Neurosurg. 2009 Oct;111(8):688-90. doi: 10.1016/j.clineuro.2009.04.007. Epub 2009 Jun 30.

Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) is a genetic disease with childhood onset characterized clinically by dystonia, parkinsonism, pyramidal signs, visual failure and mental retardation. Progression is usually relentless culminating in severe disability and death within 15 years of onset. Eye movement abnormalities have been described in patients with PKAN including slowed vertical saccades and saccadic vertical pursuit. We here report a patient with PKAN and supranuclear gaze palsy broadening the phenotypic spectrum of the disease.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Disease Progression
  • Humans
  • Male
  • Ocular Motility Disorders / complications*
  • Ocular Motility Disorders / physiopathology
  • Pantothenate Kinase-Associated Neurodegeneration / complications*
  • Pantothenate Kinase-Associated Neurodegeneration / diagnostic imaging
  • Pantothenate Kinase-Associated Neurodegeneration / physiopathology
  • Radiography
  • Retinitis Pigmentosa / complications*
  • Vision Disorders / complications*
  • Vision Disorders / physiopathology