Thalamic contribution to Sleep Slow Oscillation features in humans: A single case cross sectional EEG study in Fatal Familial Insomnia

Angelo Gemignani, Marco Laurino, Federica Provini, Andrea Piarulli, Giorgio Barletta, Paola d'Ascanio, Remo Bedini, Raffaele Lodi, David Neil Manners, Paolo Allegrini, Danilo Menicucci, Pietro Cortelli

Research output: Contribution to journalArticlepeer-review


Objective: Studying the thalamic role in the cortical expression of the Sleep Slow Oscillation (SSO) in humans by comparing SSO features in a case of Fatal Familial Insomnia (FFI) and a group of controls. Methods: We characterize SSOs in a 51-year-old male with FFI carrying the D178N mutation and the methionine/methionine homozygosity at the polymorphic 129 codon of the PRNP gene and in eight gender and age-matched healthy controls. Polysomnographic (21 EEG electrodes, two consecutive nights) and volumetric- (Diffusion tensor imaging Magnetic Resonance Imaging DTI MRI) evaluations were carried out for the patient in the middle course of the disease (five months after the onset of insomnia; disease duration: 10. months).We measured a set of features describing each SSO event: the wave shape, the event-origin location, the number and the location of all waves belonging to the event, and the grouping of spindle activity as a function of the SSO phase. Results: We found that the FFI individual showed a marked reduction of SSO event rate and wave morphological alterations as well as a significant reduction in grouping spindle activity, especially in frontal areas. These alterations paralleled DTI changes in the thalamus and the cingulate cortex. Conclusions: This work gives a quantitative picture of spontaneous SSO activity during the NREM sleep of a FFI individual. The results suggest that a thalamic neurodegeneration specifically alters the cortical expression of the SSO. This characterization also provides indications about cortico-thalamic interplays in SSO activity in humans.

Original languageEnglish
Pages (from-to)946-952
Number of pages7
JournalSleep Medicine
Issue number7
Publication statusPublished - Aug 2012


  • Fatal Familial Insomnia
  • Humans
  • NREM sleep
  • Sleep Slow Oscillation
  • Spindles
  • Thalamus

ASJC Scopus subject areas

  • Medicine(all)


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