title: Thalamic contribution to Sleep Slow Oscillation features in humans: a single case cross sectional EEG study in Fatal Familial Insomnia.
abstract: 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.
authors.affiliation: Department of Physiological Sciences, University of Pisa, Pisa, Italy. gemignan@dfb.unipi.i
authors.forename: Angelo
authors.initials: A
authors.lastname: Gemignani
authors.forename: Marco
authors.initials: M
authors.lastname: Laurino
authors.forename: Federica
authors.initials: F
authors.lastname: Provini
authors.forename: Andrea
authors.initials: A
authors.lastname: Piarulli
authors.forename: Giorgio
authors.initials: G
authors.lastname: Barletta
authors.forename: Paola
authors.initials: P
authors.lastname: d'Ascanio
authors.forename: Remo
authors.initials: R
authors.lastname: Bedini
authors.forename: Raffaele
authors.initials: R
authors.lastname: Lodi
authors.forename: David Neil
authors.initials: DN
authors.lastname: Manners
authors.forename: Paolo
authors.initials: P
authors.lastname: Allegrini
authors.forename: Danilo
authors.initials: D
authors.lastname: Menicucci
authors.forename: Pietro
authors.initials: P
authors.lastname: Cortelli
mesh_terms: D001921:Brain / Q000473:pathology / Q000503:physiopathology; D016022:Case-Control Studies; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000473:pathology / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D059906:Neuroimaging; D017286:Polysomnography; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics; D012890:Sleep / Q000502:physiology*; D012894:Sleep Stages / Q000502:physiology; D013788:Thalamus / Q000503:physiopathology*
chemical_list: C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions