An atypical case of sporadic fatal insomnia

L. Priano, G. Giaccone, M. Mangieri, G. Albani, L. Limido, A. Brioschi, L. Pradotto, L. Orsi, P. Mortara, P. Fociani, A. Mauro, F. Tagliavini

Research output: Contribution to journalArticle

6 Citations (Scopus)

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 languageEnglish
Pages (from-to)924-927
Number of pages4
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume80
Issue number8
DOIs
Publication statusPublished - Aug 2009

Fingerprint

Prion Diseases
Sleep Initiation and Maintenance Disorders
Sleep
Colloid Cysts
Basal Ganglia
Brain

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 journalArticle

Priano, L. ; Giaccone, G. ; Mangieri, M. ; Albani, G. ; Limido, L. ; Brioschi, A. ; Pradotto, L. ; Orsi, L. ; Mortara, P. ; Fociani, P. ; Mauro, A. ; Tagliavini, F. / An atypical case of sporadic fatal insomnia. In: Journal of Neurology, Neurosurgery and Psychiatry. 2009 ; Vol. 80, No. 8. pp. 924-927.
@article{b00a0956c4594902a7f3bc44c1bd9dc5,
title = "An atypical case of sporadic fatal insomnia",
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.",
author = "L. Priano and G. Giaccone and M. Mangieri and G. Albani and L. Limido and A. Brioschi and L. Pradotto and L. Orsi and P. Mortara and P. Fociani and A. Mauro and F. Tagliavini",
year = "2009",
month = "8",
doi = "10.1136/jnnp.2008.154815",
language = "English",
volume = "80",
pages = "924--927",
journal = "Journal of Neurology, Neurosurgery and Psychiatry",
issn = "0022-3050",
publisher = "BMJ Publishing Group",
number = "8",

}

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.

UR - http://www.scopus.com/inward/record.url?scp=67849114310&partnerID=8YFLogxK

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 -