1,721,350 research outputs found
Myasthenic or cataplectic facies? Ice pack test response in paediatric type 1 narcolepsy
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The orexin story, sleep and sleep disturbances
No full textThe orexins, also known as hypocretins, are two neuropeptides (orexin A and B or hypocretin 1 and 2) produced by a few thousand neurons located in the lateral hypothalamus that were independently discovered by two research groups in 1998. Those two peptides bind two receptors (orexin/hypocretin receptor 1 and receptor 2) that are widely distributed in the brain and involved in the central physiological regulation of sleep and wakefulness, orexin receptor 2 having the major role in the maintenance of arousal. They are also implicated in a multiplicity of other functions, such as reward seeking, energy balance, autonomic regulation and emotional behaviours. The destruction of orexin neurons is responsible for the sleep disorder narcolepsy with cataplexy (type 1) in humans, and a defect of orexin signalling also causes a narcoleptic phenotype in several animal species. Orexin discovery is unprecedented in the history of sleep research, and pharmacological manipulations of orexin may have multiple therapeutic applications. Several orexin receptor antagonists were recently developed as new drugs for insomnia, and orexin agonists may be the next-generation drugs for narcolepsy. Given the broad range of functions of the orexin system, these drugs might also be beneficial for treating various conditions other than sleep disorders in the near future
Narcolepsy
No full textThis article addresses the clinical presentation, diagnosis, pathophysiology and management of narcolepsy type 1 and 2, with a focus on recent findings. A low level of hypocretin-1/orexin-A in the cerebrospinal fluid is sufficient to diagnose narcolepsy type 1, being a highly specific and sensitive biomarker, and the irreversible loss of hypocretin neurons is responsible for the main symptoms of the disease: sleepiness, cataplexy, sleep-related hallucinations and paralysis, and disrupted nocturnal sleep. The process responsible for the destruction of hypocretin neurons is highly suspected to be autoimmune, or dysimmune. Over the last two decades, remarkable progress has been made for the understanding of these mechanisms that were made possible with the development of new techniques. Conversely, narcolepsy type 2 is a less well-defined disorder, with a variable phenotype and evolution, and few reliable biomarkers discovered so far. There is a dearth of knowledge about this disorder, and its aetiology remains unclear and needs to be further explored. Treatment of narcolepsy is still nowadays only symptomatic, targeting sleepiness, cataplexy and disrupted nocturnal sleep. However, new psychostimulants have been recently developed, and the upcoming arrival of non-peptide hypocretin receptor-2 agonists should be a revolution in the management of this rare sleep disease, and maybe also for disorders beyond narcolepsy
Autism Spectrum Disorder and Narcolepsy: A Possible Connection That Deserves to Be Investigated.
Full text linkNarcolepsy in childhood-adolescence is characterized by a high occurrence of
psychiatric comorbidities. The most frequent psychiatric disorders reported in
these patients are attention deficit/hyperactivity disorder, depression, anxiety
disorder, and schizophrenia. However, narcolepsy can be associated also with
introversion, sorrowfulness, feelings of inferiority, impaired affectivity
modulation, emotional lability, irritability, aggressiveness, and poor attention,
that have been pooled by some authors under a definition of "narcoleptic
personality." Some aspects of this "narcoleptic personality," and in particular
introversion, impaired affectivity modulation, irritability, and poor attention,
partially overlap with the clinical features of the individuals with autism
spectrum disorder, considering also those that are not regarded as core autism
symptoms. Till now, in literature the number of cases affected by both narcolepsy
and autism spectrum disorder (seven patients) has been clearly too small to
demonstrate the presence of a pathogenetic link between these two conditions, but
this possible connection has not yet been adequately investigated, despite the
presence of several points in common. The finding of a connection between
narcolepsy and autism spectrum disorder could boost the study of possible
etiopathogenetic mechanisms shared between these two apparently so distant
disorders. Basing on the literature data summarized in this paper, in the
diagnostic work-up of a child with narcolepsy it is essential to evaluate also
the social-communicative behavior using standardized tools in order to detect the
real recurrence of clinical features suggesting an autism spectrum disorder. At
the same time, it appears necessary to screen in the individuals with autism
spectrum disorder for the possible presence of evoking symptoms of narcolepsy
Stereotyped episodes of aphasia and immobility: how cataplexy mimics stroke in an elderly patient
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Reviewing the clinical implications of treating narcolepsy as an autoimmune disorder
Full text linkNarcolepsy type 1 (NT1) is a lifelong sleep disorder, primarily characterized clinically by excessive daytime sleepiness and cataplexy and pathologically by the loss of hypocretinergic neurons in the lateral hypothalamus. Despite being a rare disorder, the NT1-related burden for patients and society is relevant due to the early onset and chronic nature of this condition. Although the etiology of narcolepsy is still unknown, mounting evidence supports a central role of autoimmunity. To date, no cure is available for this disorder and current treatment is symptomatic. Based on the hypothesis of the autoimmune etiology of this disease, immunotherapy could possibly represent a valid therapeutic option. However, contrasting and limited results have been provided so far. This review discusses the evidence supporting the use of immunotherapy in narcolepsy, the outcomes obtained so far, current issues and future directions
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Neuropsychological findings in childhood narcolepsy.
No full textNarcolepsy with cataplexy is a severely disabling disorder very often arising in childhood. Data on neuropsychological impairment
in children are scant. We administered standardized neuropsychological tests to 13 children with narcolepsy with cataplexy.
Overall, our patients displayed multiple patterns of cognitive and behavioral dysfunction, and often academic failure (7 cases out of
13). All children had a normal full intelligence quotient (IQ), but 3 patients presented a significantly higher and 2 a significantly
lower Verbal IQ compared to Performance IQ, respectively. Mean sleep latency was significantly correlated (P < .05) to alertness
functions. Eight patients displayed behavioral problems: emotional symptoms and conduct problems prevailed. Childhood narcolepsy
with cataplexy represents a risk factor for subtle and heterogeneous cognitive impairments potentially resulting in
academic failure, despite the normal IQ. These children also have a certain psychopathological risk. All this seems to be at least
partially detached from the direct effects of daytime sleepiness
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