TY - JOUR
T1 - Increased sleep spindle activity in patients with costello syndrome (HRAS gene mutation)
AU - Marca, Giacomo Della
AU - Leoni, Chiara
AU - Dittoni, Serena
AU - Battaglia, Domenica
AU - Losurdo, Anna
AU - Testani, Elisa
AU - Colicchio, Salvatore
AU - Gnoni, Valentina
AU - Gambardella, Maria L.
AU - Mariotti, Paolo
AU - Alfieri, Paolo
AU - Tartaglia, Marco
AU - Zampino, Giuseppe
PY - 2011/6
Y1 - 2011/6
N2 - 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.
AB - 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.
KW - Costello syndrome
KW - EEG
KW - Frequency analysis
KW - HRAS
KW - Sleep
KW - Spindles
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U2 - 10.1097/WNP.0b013e31821c3ad5
DO - 10.1097/WNP.0b013e31821c3ad5
M3 - Article
C2 - 21633259
AN - SCOPUS:79958192140
VL - 28
SP - 314
EP - 318
JO - Journal of Clinical Neurophysiology
JF - Journal of Clinical Neurophysiology
SN - 0736-0258
IS - 3
ER -