title: Sleep-wake cycle abnormalities in fatal familial insomnia. Evidence of the role of the thalamus in sleep regulation.
abstract: Alterations in sleep organization were longitudinally studied in 6 new cases of fatal familial insomnia (FFI) by 24 h polygraphic recording. All patients showed an early reduction in sleep spindles and K complexes, and a drastic reduction in total sleep time and disruption of the cyclic sleep organization. Complete abolition of NREM sleep and persistence of only brief residual periods of REM sleep without atonia were features characteristic of the 3 patients with a short (less than 1 year) clinical course, and lacking in the 3 cases with a longer (more than 2 years) disease course. In the latter, sudden transitions from waking to NREM or REM sleep occurred, sometimes recurring periodically. Our findings confirm that impairment of sleep-wake regulation is a consistent distinctive feature of FFI.
authors.affiliation: Institute of Neurology, University of Bologna, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Sforza
authors.forename: P
authors.initials: P
authors.lastname: Montagna
authors.forename: P
authors.initials: P
authors.lastname: Tinuper
authors.forename: P
authors.initials: P
authors.lastname: Cortelli
authors.forename: P
authors.initials: P
authors.lastname: Avoni
authors.forename: F
authors.initials: F
authors.lastname: Ferrillo
authors.forename: R
authors.initials: R
authors.lastname: Petersen
authors.forename: P
authors.initials: P
authors.lastname: Gambetti
authors.forename: E
authors.initials: E
authors.lastname: Lugaresi
mesh_terms: D000328:Adult; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017286:Polysomnography; D012890:Sleep / Q000502:physiology*; D007319:Sleep Initiation and Maintenance Disorders / Q000235:genetics / Q000503:physiopathology*; D013788:Thalamus / Q000503:physiopathology*; D013997:Time Factors; D014851:Wakefulness / Q000502:physiology*