An atypical case of sporadic fatal insomnia.
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.
Priano
L
L
Istituto Auxologico Italiano, Piancavallo, Verbania, Italy.
Giaccone
G
G
Mangieri
M
M
Albani
G
G
Limido
L
L
Brioschi
A
A
Pradotto
L
L
Orsi
L
L
Mortara
P
P
Fociani
P
P
Mauro
A
A
Tagliavini
F
F
D015153:Blotting, Western; D001921:Brain / Q000473:pathology; D007562:Creutzfeldt-Jakob Syndrome / Q000473:pathology; D004569:Electroencephalography; D006801:Humans; D007150:Immunohistochemistry; D034062:Insomnia, Fatal Familial / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D019635:Neurosurgical Procedures; D018620:PrPSc Proteins / Q000235:genetics / Q000378:metabolism*; D014057:Tomography, X-Ray Computed
D018620:PrPSc Proteins