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Sleep Medicine pp 301-307 | Cite as

Fatal Familial Insomnia and Agrypnia Excitata: Insights into Human Prion Disease Genetics and the Anatomo-Physiology of Wake and Sleep Behaviours

  • Elio Lugaresi
  • Federica ProviniEmail author
Chapter

Abstract

In 1986, we described a novel disease named fatal familial insomnia (FFI) in which selective atrophy of the anterior and medio-dorsal thalamic nuclei led to a progressive loss of the ability to sleep, associated with apathy and motor and autonomic activation. Subsequent studies on FFI yielded proof that FFI is a prion disease linked to a point mutation at codon 178 of the prion protein gene. FFI appears when the mutated allele, at the methionine–valine polymorphic codon 129 of the same gene, codifies methionine.

We subsequently realized that like FFI, at least two other neurological disorders, Morvan syndrome and delirium tremens, were characterized by a loss of sleep associated with motor and autonomic hyperactivation. We grouped these conditions under the term agrypnia excitata (AE). An in-depth study of AE has led to several pathophysiological considerations shedding light on the mechanisms generating the basic sleep and wake behaviours and regulating their daily alternation.

Keywords

Fatal familial insomnia Morvan syndrome Delirium Tremens Agypnia excitata Thalamus 

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© Springer Science+Business Media, LLC 2015

Authors and Affiliations

  1. 1.IRCCS Istituto delle Scienze Neurologiche di BolognaUniversity of BolognaBolognaItaly
  2. 2.Department of Biomedical and Neuromotor SciencesUniversity of BolognaBolognaItaly

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