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Publications (2)6.01 Total impact

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    ABSTRACT: Idiopathic hypersomnia is an uncommon sleep disorder characterized by prolonged sleep time and excessive daytime sleepiness without cataplexy. This study concerned a case of familial occurrence. The proband expressed an idiopathic hypersomnia with long sleep time at the age of 12 years. Clinical interview and ad libitum polysomnographic study did not reveal any symptoms of narcolepsy or other sleep disorders. Family history revealed that a 20-year-old sister had experienced symptoms of hypersomnia from the age of 16 and their mother had been diagnosed with idiopathic hypersomnia previously. The diagnosis of idiopathic hypersomnia with long sleep time was confirmed in the sister by clinical interview and ad libitum polysomnography. Human leukocyte antigen (HLA) did not reveal the DQB1-0602 phenotype in the proband and relatives. This report confirms the hypothesis of a genetic predisposition in idiopathic hypersomnia.
    Journal of child neurology 01/2011; 26(4):522-5. · 1.59 Impact Factor
  • Sona Janackova, Emilia Sforza
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    ABSTRACT: New insights into the physiopathological correlates of arousal and sleep fragmentation have recently been gained through experimental and clinical studies in healthy individuals and in patients with sleep disorders. The development of new analyses of autonomic system during sleep, has enriched the knowledge of sleep fragmentation derived from electroencephalographic analysis and has made possible the characterization of other phasic events arising from sleep, such as autonomic arousals. All of these studies provide evidence in support of the hypothesis that autonomic activations without cortical involvement are an epiphenomena of sleep fragmentation and altered sleep continuity, similar to that induced by cortical activation. This review begins by describing the latest findings on type of arousal response, with regards to the effect of arousing stimuli on the brain and the autonomic system. It then focuses on the hotly debated issue on experimental and clinical physiopathology of the arousals without cortical activation, highlighting the results of novel studies on the neural substrates mediating these response. Finally, we address the current question on clinical significance of sleep fragmentation to understand if arousal per se, cortical or autonomic, has an impact on daytime functioning, cardiovascular consequences and cognitive sequelae.
    Current pharmaceutical design 02/2008; 14(32):3474-80. · 4.41 Impact Factor