Fatal familial insomnia

Behavioral and cognitive features

R. Gallassi, A. Morreale, P. Montagna, P. Cortelli, P. Avoni, R. Castellani, P. Gambetti, E. Lugaresi

Research output: Contribution to journalArticle

60 Citations (Scopus)

Abstract

Fatal familial insomnia (FFI) is a familial prion disease linked to a mutation of the prion protein gene. Neuropsychological investigations in seven patients with FFI belonging to two different families showed that the main behavioral and neuropsychological features are (1) early impairment of attention and vigilance, (2) memory deficits, mainly of the working memory, (3) impairment of temporal ordering of events, and (4) a progressive dream- like state with neuropsychological and behavioral features of a confusional state. Neuropathologic examination of six patients showed prominent neuronal loss and gliosis involving the anterior ventral and mediodorsal thalamic nuclei, with additional cerebral cortical involvement in two cases. Clinicopathologic correlations indicate that FFI is associated with a neuropsychological and behavioral syndrome that is distinct from the cortical and subcortical dementias, and Wernicke-Korsakoff syndrome. These findings offer insights into the function of the thalamic nuclei and challenge the notion of thalamic dementia.

Original languageEnglish
Pages (from-to)935-939
Number of pages5
JournalNeurology
Volume46
Issue number4
Publication statusPublished - Apr 1996

Fingerprint

Fatal Familial Insomnia
Dementia
Korsakoff Syndrome
Anterior Thalamic Nuclei
Ventral Thalamic Nuclei
Mediodorsal Thalamic Nucleus
Confusion
Thalamic Nuclei
Prion Diseases
Gliosis
Memory Disorders
Short-Term Memory
Mutation
Genes

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Gallassi, R., Morreale, A., Montagna, P., Cortelli, P., Avoni, P., Castellani, R., ... Lugaresi, E. (1996). Fatal familial insomnia: Behavioral and cognitive features. Neurology, 46(4), 935-939.

Fatal familial insomnia : Behavioral and cognitive features. / Gallassi, R.; Morreale, A.; Montagna, P.; Cortelli, P.; Avoni, P.; Castellani, R.; Gambetti, P.; Lugaresi, E.

In: Neurology, Vol. 46, No. 4, 04.1996, p. 935-939.

Research output: Contribution to journalArticle

Gallassi, R, Morreale, A, Montagna, P, Cortelli, P, Avoni, P, Castellani, R, Gambetti, P & Lugaresi, E 1996, 'Fatal familial insomnia: Behavioral and cognitive features', Neurology, vol. 46, no. 4, pp. 935-939.
Gallassi R, Morreale A, Montagna P, Cortelli P, Avoni P, Castellani R et al. Fatal familial insomnia: Behavioral and cognitive features. Neurology. 1996 Apr;46(4):935-939.
Gallassi, R. ; Morreale, A. ; Montagna, P. ; Cortelli, P. ; Avoni, P. ; Castellani, R. ; Gambetti, P. ; Lugaresi, E. / Fatal familial insomnia : Behavioral and cognitive features. In: Neurology. 1996 ; Vol. 46, No. 4. pp. 935-939.
@article{a78faa13287c4e45ac42a5aa808820f6,
title = "Fatal familial insomnia: Behavioral and cognitive features",
abstract = "Fatal familial insomnia (FFI) is a familial prion disease linked to a mutation of the prion protein gene. Neuropsychological investigations in seven patients with FFI belonging to two different families showed that the main behavioral and neuropsychological features are (1) early impairment of attention and vigilance, (2) memory deficits, mainly of the working memory, (3) impairment of temporal ordering of events, and (4) a progressive dream- like state with neuropsychological and behavioral features of a confusional state. Neuropathologic examination of six patients showed prominent neuronal loss and gliosis involving the anterior ventral and mediodorsal thalamic nuclei, with additional cerebral cortical involvement in two cases. Clinicopathologic correlations indicate that FFI is associated with a neuropsychological and behavioral syndrome that is distinct from the cortical and subcortical dementias, and Wernicke-Korsakoff syndrome. These findings offer insights into the function of the thalamic nuclei and challenge the notion of thalamic dementia.",
author = "R. Gallassi and A. Morreale and P. Montagna and P. Cortelli and P. Avoni and R. Castellani and P. Gambetti and E. Lugaresi",
year = "1996",
month = "4",
language = "English",
volume = "46",
pages = "935--939",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "4",

}

TY - JOUR

T1 - Fatal familial insomnia

T2 - Behavioral and cognitive features

AU - Gallassi, R.

AU - Morreale, A.

AU - Montagna, P.

AU - Cortelli, P.

AU - Avoni, P.

AU - Castellani, R.

AU - Gambetti, P.

AU - Lugaresi, E.

PY - 1996/4

Y1 - 1996/4

N2 - Fatal familial insomnia (FFI) is a familial prion disease linked to a mutation of the prion protein gene. Neuropsychological investigations in seven patients with FFI belonging to two different families showed that the main behavioral and neuropsychological features are (1) early impairment of attention and vigilance, (2) memory deficits, mainly of the working memory, (3) impairment of temporal ordering of events, and (4) a progressive dream- like state with neuropsychological and behavioral features of a confusional state. Neuropathologic examination of six patients showed prominent neuronal loss and gliosis involving the anterior ventral and mediodorsal thalamic nuclei, with additional cerebral cortical involvement in two cases. Clinicopathologic correlations indicate that FFI is associated with a neuropsychological and behavioral syndrome that is distinct from the cortical and subcortical dementias, and Wernicke-Korsakoff syndrome. These findings offer insights into the function of the thalamic nuclei and challenge the notion of thalamic dementia.

AB - Fatal familial insomnia (FFI) is a familial prion disease linked to a mutation of the prion protein gene. Neuropsychological investigations in seven patients with FFI belonging to two different families showed that the main behavioral and neuropsychological features are (1) early impairment of attention and vigilance, (2) memory deficits, mainly of the working memory, (3) impairment of temporal ordering of events, and (4) a progressive dream- like state with neuropsychological and behavioral features of a confusional state. Neuropathologic examination of six patients showed prominent neuronal loss and gliosis involving the anterior ventral and mediodorsal thalamic nuclei, with additional cerebral cortical involvement in two cases. Clinicopathologic correlations indicate that FFI is associated with a neuropsychological and behavioral syndrome that is distinct from the cortical and subcortical dementias, and Wernicke-Korsakoff syndrome. These findings offer insights into the function of the thalamic nuclei and challenge the notion of thalamic dementia.

UR - http://www.scopus.com/inward/record.url?scp=0029864454&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029864454&partnerID=8YFLogxK

M3 - Article

VL - 46

SP - 935

EP - 939

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 4

ER -