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

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

ASJC Scopus subject areas

  • Medicine(all)

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