Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei

E. Lugaresi, R. Medori, P. Montagna, A. Baruzzi, P. Cortelli, P. Tinuper, M. Zucconi, P. Gambetti

Research output: Contribution to journalArticle

458 Citations (Scopus)

Abstract

We report here the case of a 53-year-old man who presented with progressive insomnia and dysautonomia (pyrexia, diaphoresis, miosis, and sphincter disturbances). Dreamlike status, dysarthria, tremor, and myoclonus subsequently developed and led to coma and death after nine months. Two sisters of the patient and many relatives over three generations had died of a similar disease. Pathological studies of the brains of the patient and one of his sisters showed severe neuronal degeneration, with reactive astrocytosis limited to the anterior and dorsomedial thalamic nuclei and without spongiosis or vascular or inflammatory changes. These cases document the existence of a degenerative disease confined to the thalamus and emphasize the role of the anterior and dorsomedial thalamic formations in the regulation of the sleep-wake cycle and other autonomic functions.

Original languageEnglish
Pages (from-to)997-1003
Number of pages7
JournalNew England Journal of Medicine
Volume315
Issue number16
Publication statusPublished - 1986

Fingerprint

Fatal Familial Insomnia
Familial Dysautonomia
Thalamic Nuclei
Siblings
Primary Dysautonomias
Anterior Thalamic Nuclei
Miosis
Mediodorsal Thalamic Nucleus
Dysarthria
Myoclonus
Gliosis
Sleep Initiation and Maintenance Disorders
Tremor
Coma
Thalamus
Blood Vessels
Sleep
Fever
Brain

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Lugaresi, E., Medori, R., Montagna, P., Baruzzi, A., Cortelli, P., Tinuper, P., ... Gambetti, P. (1986). Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. New England Journal of Medicine, 315(16), 997-1003.

Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. / Lugaresi, E.; Medori, R.; Montagna, P.; Baruzzi, A.; Cortelli, P.; Tinuper, P.; Zucconi, M.; Gambetti, P.

In: New England Journal of Medicine, Vol. 315, No. 16, 1986, p. 997-1003.

Research output: Contribution to journalArticle

Lugaresi, E, Medori, R, Montagna, P, Baruzzi, A, Cortelli, P, Tinuper, P, Zucconi, M & Gambetti, P 1986, 'Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei', New England Journal of Medicine, vol. 315, no. 16, pp. 997-1003.
Lugaresi, E. ; Medori, R. ; Montagna, P. ; Baruzzi, A. ; Cortelli, P. ; Tinuper, P. ; Zucconi, M. ; Gambetti, P. / Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. In: New England Journal of Medicine. 1986 ; Vol. 315, No. 16. pp. 997-1003.
@article{b8342e188cc34490b8d143f922f3662b,
title = "Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei",
abstract = "We report here the case of a 53-year-old man who presented with progressive insomnia and dysautonomia (pyrexia, diaphoresis, miosis, and sphincter disturbances). Dreamlike status, dysarthria, tremor, and myoclonus subsequently developed and led to coma and death after nine months. Two sisters of the patient and many relatives over three generations had died of a similar disease. Pathological studies of the brains of the patient and one of his sisters showed severe neuronal degeneration, with reactive astrocytosis limited to the anterior and dorsomedial thalamic nuclei and without spongiosis or vascular or inflammatory changes. These cases document the existence of a degenerative disease confined to the thalamus and emphasize the role of the anterior and dorsomedial thalamic formations in the regulation of the sleep-wake cycle and other autonomic functions.",
author = "E. Lugaresi and R. Medori and P. Montagna and A. Baruzzi and P. Cortelli and P. Tinuper and M. Zucconi and P. Gambetti",
year = "1986",
language = "English",
volume = "315",
pages = "997--1003",
journal = "New England Journal of Medicine",
issn = "0028-4793",
publisher = "Massachussetts Medical Society",
number = "16",

}

TY - JOUR

T1 - Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei

AU - Lugaresi, E.

AU - Medori, R.

AU - Montagna, P.

AU - Baruzzi, A.

AU - Cortelli, P.

AU - Tinuper, P.

AU - Zucconi, M.

AU - Gambetti, P.

PY - 1986

Y1 - 1986

N2 - We report here the case of a 53-year-old man who presented with progressive insomnia and dysautonomia (pyrexia, diaphoresis, miosis, and sphincter disturbances). Dreamlike status, dysarthria, tremor, and myoclonus subsequently developed and led to coma and death after nine months. Two sisters of the patient and many relatives over three generations had died of a similar disease. Pathological studies of the brains of the patient and one of his sisters showed severe neuronal degeneration, with reactive astrocytosis limited to the anterior and dorsomedial thalamic nuclei and without spongiosis or vascular or inflammatory changes. These cases document the existence of a degenerative disease confined to the thalamus and emphasize the role of the anterior and dorsomedial thalamic formations in the regulation of the sleep-wake cycle and other autonomic functions.

AB - We report here the case of a 53-year-old man who presented with progressive insomnia and dysautonomia (pyrexia, diaphoresis, miosis, and sphincter disturbances). Dreamlike status, dysarthria, tremor, and myoclonus subsequently developed and led to coma and death after nine months. Two sisters of the patient and many relatives over three generations had died of a similar disease. Pathological studies of the brains of the patient and one of his sisters showed severe neuronal degeneration, with reactive astrocytosis limited to the anterior and dorsomedial thalamic nuclei and without spongiosis or vascular or inflammatory changes. These cases document the existence of a degenerative disease confined to the thalamus and emphasize the role of the anterior and dorsomedial thalamic formations in the regulation of the sleep-wake cycle and other autonomic functions.

UR - http://www.scopus.com/inward/record.url?scp=0022447484&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0022447484&partnerID=8YFLogxK

M3 - Article

C2 - 3762620

AN - SCOPUS:0022447484

VL - 315

SP - 997

EP - 1003

JO - New England Journal of Medicine

JF - New England Journal of Medicine

SN - 0028-4793

IS - 16

ER -