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.

An atypical case of sporadic fatal insomnia

PRIANO, LORENZO;PRADOTTO, Luca Guglielmo;MORTARA, Paolo;MAURO, Alessandro;
2009

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.
80
924
927
http://dx.doi.org/10.1136/jnnp.2008.154815
Blotting; Western; Brain; Creutzfeldt-Jakob Syndrome; Electroencephalography; Humans; Immunohistochemistry; Insomnia; Fatal Familial; Magnetic Resonance Imaging; Male; Middle Aged; Neurosurgical Procedures; PrPSc Proteins; Tomography; X-Ray Computed
Priano L; Giaccone G; Mangieri M; Albani G; Limido L; Brioschi A; Pradotto L; Orsi L; Mortara P; Fociani P; Mauro A; Tagliavini F.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/79676
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