title: Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation).
abstract: Costello syndrome is a congenital disorder because of HRAS gene mutation, frequently associated with neurologic impairment and sleep disorders. The aims of the study were to evaluate the sleep EEG, and particularly the sleep spindles, in a population of patients with Costello syndrome and to compare them with those characterizing unaffected subjects. Eleven subjects (5 men and 6 women) with Costello syndrome were included in the study; age ranged between 18 months and 31 years (mean, 9.6 ± 9.4 years). The diagnosis was posed on the basis of established clinical criteria and confirmed molecularly. Sleep EEG was studied by means of full-night, laboratory-based video-polysomnography, performed overnight, during hospitalization. Sleep activity was quantified by means of power spectral analysis. Patients heterozygous for an HRAS mutation exhibited increased EEG power in 12- to 15-Hz activity band compared with age-matched control subjects. In conclusion, the authors observed a consistent increase in the amplitude of cortical sleep spindles in all our subjects with an HRAS mutation. These "giant" spindles were not associated with any evidence of structural damage of the cortex or the thalami and should be considered as phenotypic feature of sleep EEG activity in Costello syndrome because of HRAS mutation.
authors.affiliation: Unit of Sleep Medicine, Department of Neuroscience, Catholic University, Rome, Italy. dellamarca@rm.unicatt.it
authors.forename: Giacomo
authors.initials: G
authors.lastname: Della Marca
authors.forename: Chiara
authors.initials: C
authors.lastname: Leoni
authors.forename: Serena
authors.initials: S
authors.lastname: Dittoni
authors.forename: Domenica
authors.initials: D
authors.lastname: Battaglia
authors.forename: Anna
authors.initials: A
authors.lastname: Losurdo
authors.forename: Elisa
authors.initials: E
authors.lastname: Testani
authors.forename: Salvatore
authors.initials: S
authors.lastname: Colicchio
authors.forename: Valentina
authors.initials: V
authors.lastname: Gnoni
authors.forename: Maria L
authors.initials: ML
authors.lastname: Gambardella
authors.forename: Paolo
authors.initials: P
authors.lastname: Mariotti
authors.forename: Paolo
authors.initials: P
authors.lastname: Alfieri
authors.forename: Marco
authors.initials: M
authors.lastname: Tartaglia
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Zampino
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D056685:Costello Syndrome / Q000175:diagnosis* / Q000503:physiopathology*; D004569:Electroencephalography / Q000379:methods*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics*; D012893:Sleep Wake Disorders / Q000175:diagnosis* / Q000503:physiopathology*; D055815:Young Adult
chemical_list: C501009:HRAS protein, human; D016283:Proto-Oncogene Proteins p21(ras)