title: Progressive disruption of the circadian rhythm of melatonin in fatal familial insomnia.
abstract: Fatal familial insomnia (FFI) is a disease characterized by loss of sleep activity due to selective thalamic degeneration. To assess the secretory pattern of melatonin (MT) in FFI, we studied two cases of overt disease under standardized conditions and polysomnographic control. Each patient underwent repeated 24-h study sessions, and MT was assayed at 30-min intervals. Six healthy volunteers were used as controls. Slow wave sleep was never recorded, whereas occasional episodes of enacted dreaming accompanied by rapid ocular movements and complex muscular activities were documented, with no detectable rhythm. Plasma MT concentrations gradually decreased as the disease progressed. A significant circadian rhythm was detected in the earlier recordings, with decreasing amplitudes with disease progression. Complete rhythm obliteration was achieved in the most advanced stage. Normally placed nocturnal acrophases were detected in the earlier stages, but then a shift toward the daytime hours was observed. Thalamic lesions of FFI appear to determine a progressive disruption of the sleep/wake cycle accompanied by decreased circulating levels of MT, with progressive alterations in the circadian rhythm of this hormone. On the other hand, decreased secretion of MT may contribute to the sleep disturbances of FFI.
authors.affiliation: Institute of Internal Medicine, University of Ferrara, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Portaluppi
authors.forename: P
authors.initials: P
authors.lastname: Cortelli
authors.forename: P
authors.initials: P
authors.lastname: Avoni
authors.forename: L
authors.initials: L
authors.lastname: Vergnani
authors.forename: P
authors.initials: P
authors.lastname: Maltoni
authors.forename: A
authors.initials: A
authors.lastname: Pavani
authors.forename: E
authors.initials: E
authors.lastname: Sforza
authors.forename: E C
authors.initials: EC
authors.lastname: Degli Uberti
authors.forename: P
authors.initials: P
authors.lastname: Gambetti
authors.forename: E
authors.initials: E
authors.lastname: Lugaresi
mesh_terms: D000328:Adult; D002940:Circadian Rhythm; D005260:Female; D006801:Humans; D008550:Melatonin / Q000097:blood*; D008875:Middle Aged; D017096:Prion Diseases / Q000097:blood*
chemical_list: D008550:Melatonin