An atypical case of sporadic fatal insomnia
- L Priano1,3,
- G Giaccone2,
- M Mangieri2,
- G Albani1,
- L Limido2,
- A Brioschi1,
- L Pradotto1,
- L Orsi3,
- P Mortara3,
- P Fociani4,
- A Mauro1,3,
- F Tagliavini2
- 1Istituto Auxologico Italiano, Piancavallo, Verbania, Italy
- 2Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy
- 3Dipartimento di Neuroscienze, Az. Osp. San Giovanni Battista and Università di Torino, Torino, Italy
- 4Ospedale Sacco, Università di Milano, Milano, Italy
- Dr G Giaccone, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; giaccone{at}istituto-besta.it
- Received 9 June 2008
- Revised 14 October 2008
- Accepted 15 October 2008
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.
Footnotes
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Competing interests: None.
