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Increased Sleep Spindle Activity in Patients With Costello Syndrome (HRAS Gene Mutation)

2011; Lippincott Williams & Wilkins; Volume: 28; Issue: 3 Linguagem: Inglês

10.1097/wnp.0b013e31821c3ad5

1537-1603

Giacomo Della Marca, Chiara Leoni, Serena Dittoni, Domenica Battaglia, Anna Losurdo, Elisa Testani, Salvatore Colicchio, Valentina Gnoni, Maria Luigia Gambardella, Paolo Mariotti, Paolo Alfieri, Marco Tartaglia, Giuseppe Zampino,

Carbohydrate Chemistry and Synthesis

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.