An atypical case of sporadic fatal insomnia

J Neurol Neurosurg Psychiatry. 2009 Aug;80(8):924-7. doi: 10.1136/jnnp.2008.154815.

Abstract

Fatal insomnia is a rare human prion disease characterised by sleep-wake disturbances, thalamic degeneration and deposition of type 2 disease-specific prion protein (PrP(Sc)). This report details a patient with sporadic fatal insomnia who exhibited cerebral deposition of type 1 PrP(Sc) and neuropathological changes largely in the basal ganglia. Previous damage of this brain region by a surgically removed colloid cyst and the insertion of two intracerebral shunts may have influenced the distribution of PrP(Sc) through a chronic inflammatory process. These findings add to our knowledge of the phenotypic variability of human prion diseases with prominent sleep disturbances.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Western
  • Brain / pathology
  • Creutzfeldt-Jakob Syndrome / pathology
  • Electroencephalography
  • Humans
  • Immunohistochemistry
  • Insomnia, Fatal Familial / genetics
  • Insomnia, Fatal Familial / metabolism
  • Insomnia, Fatal Familial / pathology*
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Neurosurgical Procedures
  • PrPSc Proteins / genetics
  • PrPSc Proteins / metabolism*
  • Tomography, X-Ray Computed

Substances

  • PrPSc Proteins