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An atypical case of sporadic fatal insomnia
  1. L Priano1,3,
  2. G Giaccone2,
  3. M Mangieri2,
  4. G Albani1,
  5. L Limido2,
  6. A Brioschi1,
  7. L Pradotto1,
  8. L Orsi3,
  9. P Mortara3,
  10. P Fociani4,
  11. A Mauro1,3,
  12. F Tagliavini2
  1. 1
    Istituto Auxologico Italiano, Piancavallo, Verbania, Italy
  2. 2
    Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy
  3. 3
    Dipartimento di Neuroscienze, Az. Osp. San Giovanni Battista and Università di Torino, Torino, Italy
  4. 4
    Ospedale Sacco, Università di Milano, Milano, Italy
  1. Dr G Giaccone, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; giaccone{at}istituto-besta.it

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 (PrPSc). This report details a patient with sporadic fatal insomnia who exhibited cerebral deposition of type 1 PrPSc 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 PrPSc through a chronic inflammatory process. These findings add to our knowledge of the phenotypic variability of human prion diseases with prominent sleep disturbances.

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Footnotes

  • Competing interests: None.

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