An atypical case of sporadic fatal insomnia. Issue 8 (16th July 2009)

• Record Type: Journal Article
• Authors: Priano, L; Giaccone, G; Mangieri, M; Albani, G; Limido, L; Brioschi, A; Pradotto, L; Orsi, L; Mortara, P; Fociani, P; Mauro, A; Tagliavini, F
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 80:Issue 8(2009)
• Page Start: 924
• Page End: 927
• Publication Date: 2009-07-16
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.2008.154815
• Languages: English
• ISSNs: 0022-3050

Abstract

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.