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.
| Original language | English |
|---|---|
| Pages (from-to) | 924-927 |
| Number of pages | 4 |
| Journal | Journal of Neurology, Neurosurgery and Psychiatry |
| Volume | 80 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - Aug 2009 |
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ASJC Scopus subject areas
- Clinical Neurology
- Psychiatry and Mental health
- Surgery
- Medicine(all)
Cite this
An atypical case of sporadic fatal insomnia. / Priano, L.; Giaccone, G.; Mangieri, M.; Albani, G.; Limido, L.; Brioschi, A.; Pradotto, L.; Orsi, L.; Mortara, P.; Fociani, P.; Mauro, A.; Tagliavini, F.
In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 80, No. 8, 08.2009, p. 924-927.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - An atypical case of sporadic fatal insomnia
AU - Priano, L.
AU - Giaccone, G.
AU - Mangieri, M.
AU - Albani, G.
AU - Limido, L.
AU - Brioschi, A.
AU - Pradotto, L.
AU - Orsi, L.
AU - Mortara, P.
AU - Fociani, P.
AU - Mauro, A.
AU - Tagliavini, F.
PY - 2009/8
Y1 - 2009/8
N2 - 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.
AB - 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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UR - http://www.scopus.com/inward/citedby.url?scp=67849114310&partnerID=8YFLogxK
U2 - 10.1136/jnnp.2008.154815
DO - 10.1136/jnnp.2008.154815
M3 - Article
VL - 80
SP - 924
EP - 927
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
SN - 0022-3050
IS - 8
ER -