![]() Reports of distinctive HLA markers have been inconsistent ( 8). This might be due to a pathologically high sleep pressure, a lack of an adequate homeostatic antagonist or the malfunctioning of the underlying circadian process. Sleep regulation seems to be disturbed in patients suffering from IH ( 6, 7). However, a recent double-blind, placebo-controlled study suggests Modafinil might be efficacious in treating IH patients ( 5). Currently there is no admitted medical treatment for IH. Sleep drunkenness, sleep inertia, and hypnagogic hallucinations are also frequently reported ( 4).ĭisease onset occurs most often during adolescence or young adulthood and is accompanied by severe social and economic impairments for the patients, resulting in a great loss in the patient's quality of life. The symptoms of the disease include extreme difficulties waking up, excessive daytime sleepiness (EDS) with extensive, mostly involuntary and unrefreshing daytime naps in addition to problems with concentration and prominent mood disturbances. No current reliable epidemiological data are available due to a lack of any clinical observational studies. It is a rare disease with an estimated prevalence of 0.5/100.000 people ( 2, 3). IH is a primary sleep disorder of not yet finally resolved etiology characterized by a high and disabling amount of sleep required during the day, despite normal or even prolonged sleep times at night. The key manifestation in all categories is excessive daytime sleepiness. This finding further stresses a disturbed regulation of the circadian rhythm in IH patients as part of the pathophysiology of this complex and poorly understood primary sleep disorder.Īccording to the recent classification of sleep disorders, central disorders of hypersomnolence are subdivided into different categories including narcolepsy with cataplexy (NT1), narcolepsy without cataplexy (NT2), recurrent hypersomnia (Kleine-Levin-Syndrome, KLS), and idiopathic hypersomnia (IH) ( 1). In comparison to the group of healthy controls (HC) the mean period length was estimated to be 0.82 h (95%-CI 0.44–1.20 h) longer in the patient group. The group of IH patients revealed on average a prolonged circadian period length. We determined the circadian period length of the primary fibroblast cells by lentiviral infection with a construct expressing a luciferase gene under the control of a BMAL1 promoter. In order to gain insight into the molecular mechanism of this sleep disorder we collected fibroblasts from skin biopsies of IH patients and healthy subjects. The patients were diagnosed according to the ICSD3-criteria by clinical history, polysomnography (PSG), and multiple sleep latency testing (MSLT). As the etiology of this disease is largely unknown, we examined the in vitro circadian period length of patients suffering from IH. In some sleep disorders like idiopathic hypersomnia (IH) this adaptation is defective. The vast majority of living organisms have evolved a circadian rhythm of roughly 24 h in adaptation to ever-changing environmental conditions, such as the cycle of light and darkness. 3Institute of Biostatistics and Clinical Research, University of Muenster, Muenster, Germany.2Department of Neurology, Inselspital, University Hospital Bern, University of Bern, Bern, Switzerland.1Division of Sleep Medicine and Neuromuscular Disorders, Department of Neurology, University Hospital Muenster, Muenster, Germany.Linus Materna 1, Hartmut Halfter 1, Anna Heidbreder 1, Matthias Boentert 1, Julian Lippert 2, Raphael Koch 3 † and Peter Young 1 * †
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