Does the prion protein gene 129 codon polymorphism influence sleep? Evidence from a fatal familial insomnia kindred

Giuseppe Plazzi, Pasquale Montagna, Manolo Beelke, Lino Nobili, Fabrizio De Carli, Pietro Cortelli, Stefano Vandi, Patrizia Avoni, Paolo Tinuper, Pierluigi Gambetti, Elio Lugaresi, Franco Ferrillo

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Objective: Experimental and clinical evidence in prion diseases suggests that the prion protein gene (PRNP) plays a role in regulating sleep. Methods: Seventeen healthy individuals belonging to a single fatal familial insomnia pedigree, 8 carriers and 9 non-carriers of the PRNP codon 178 mutation, underwent polysomnography and spectral electroencephalographic (EEG) analysis. All were also characterized with regard to the codon 129 polymorphism on both PRNP alleles. Results: PRNP codon 129 polymorphism exhibited influences on sleep-EEG activities. In particular, spindle frequency band power and balance between delta and spindle activity were found to correlate with the genotype of PRNP codon 129, irrespective of the mutation at codon 178. Conclusions: Our data suggest that PRNP codon 129 polymorphism may also affect sleep in the healthy population and warrant further studies in the general population and other sleep disorders.

Original languageEnglish
Pages (from-to)1948-1953
Number of pages6
JournalClinical Neurophysiology
Volume113
Issue number12
DOIs
Publication statusPublished - Dec 2002

Fingerprint

Fatal Familial Insomnia
Codon
Sleep
Genes
Mutation
Prion Diseases
Polysomnography
Pedigree
Population
Prion Proteins
Alleles
Genotype

Keywords

  • Prion
  • PRNP-C129 polymorphism
  • Sleep
  • Sleep electroencephalographic spectral analysis

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging
  • Neurology
  • Sensory Systems
  • Physiology (medical)

Cite this

Does the prion protein gene 129 codon polymorphism influence sleep? Evidence from a fatal familial insomnia kindred. / Plazzi, Giuseppe; Montagna, Pasquale; Beelke, Manolo; Nobili, Lino; De Carli, Fabrizio; Cortelli, Pietro; Vandi, Stefano; Avoni, Patrizia; Tinuper, Paolo; Gambetti, Pierluigi; Lugaresi, Elio; Ferrillo, Franco.

In: Clinical Neurophysiology, Vol. 113, No. 12, 12.2002, p. 1948-1953.

Research output: Contribution to journalArticle

Plazzi, Giuseppe ; Montagna, Pasquale ; Beelke, Manolo ; Nobili, Lino ; De Carli, Fabrizio ; Cortelli, Pietro ; Vandi, Stefano ; Avoni, Patrizia ; Tinuper, Paolo ; Gambetti, Pierluigi ; Lugaresi, Elio ; Ferrillo, Franco. / Does the prion protein gene 129 codon polymorphism influence sleep? Evidence from a fatal familial insomnia kindred. In: Clinical Neurophysiology. 2002 ; Vol. 113, No. 12. pp. 1948-1953.
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AU - De Carli, Fabrizio

AU - Cortelli, Pietro

AU - Vandi, Stefano

AU - Avoni, Patrizia

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AU - Gambetti, Pierluigi

AU - Lugaresi, Elio

AU - Ferrillo, Franco

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