1,721,264 research outputs found
Fatal familial insomnia and Agrypnia Excitata: Autonomic dysfunctions and pathophysiological implications
No full textFatal Familial Insomnia (FFI) is a hereditary prion disease caused by a mutation at codon 178 of the prion-protein gene leading to a D178N substitution in the protein determining severe and selective atrophy of mediodorsal and anteroventral thalamic nuclei. FFI is characterized by physiological sleep loss, which polygraphically appears to be a slow wave sleep loss, autonomic and motor hyperactivation with peculiar episodes of oneiric stupor. Alteration of autonomic functions is a great burden for FFI patients consisting in sympathetic overactivation, dysregulation of its physiological responses and disruption of circadian rhythms. The cardiovascular system is the most frequently and severely affected confirming the increased sympathetic drive with preserved parasympathetic responses. Sleep loss, autonomic and motor hyperactivation define Agrypnia Excitata (AE), which is not exclusive to FFI, but it has been canonically described also in Morvan Syndrome and Delirium Tremens. These three conditions present different pathophysiological mechanisms but share the same thalamo-limbic impairment of which AE is one of the possible clinical presentations. FFI, and consequently also AE, is a model for the investigation of the essential role of the thalamus in the organization of body homeostasis, integrating both sleep and autonomic function control
Differentiating Oneiric Stupor in Agrypnia Excitata From Dreaming Disorders
Full text linkOneiric Stupor (OS) in Agrypnia Excitata represents a peculiar condition characterized by the recurrence of stereotyped gestures such as mimicking daily-life activities associated with the reporting of a dream mentation consisting in a single oneiric scene. It arises in the context of a completely disorganized sleep structure lacking any physiological cyclic organization, thus, going beyond the concept of abnormal dream. However, a proper differential diagnosis of OS, in the complex world of the “disorders of dreaming” can become quite challenging. The aim of this review is to provide useful clinical and videopolygraphic data on OS to differentiate it from other dreaming disorders. Each entity will be clinically evaluated among the areas of dream mentation and abnormal sleep behaviors and its polygraphic features will be analyzed and distinguished from OS
Excessive daytime sleepiness in Parkinson’s disease: the key is beyond sleep macrostructure
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Commentary on “Parasomnias manifest different phenotypes of sleep-related behaviors in age and sex groups. A YouTube-based video research highlighting the age slope of sleepwalking”
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Fragmentary Hypnic Myoclonus and Other Isolated Motor Phenomena of Sleep
No full textExcessive fragmentary hypnic myoclonus, hypnic jerks, hypnagogic foot tremor, alternating leg muscle activation, and sleep-related cramps are less known sleep-related motor disorders (SRMDs). These manifestations are frequently missed or misinterpreted polygraphic findings that can be frequently confused with the more frequent SRMDs. These symptoms can present as isolated motor symptoms but can be also the cause of otherwise cryptogenic insomnias and somnolence. Expanding the knowledge on these isolated symptoms and defining their polygraphic and clinical features are essential for their identification. However, clear cut-offs to discern between the isolated phenomenon and the disorder are still to be found
Sleep syncope: a new clinical entity or just a vasovagal syncope during wakefulness after sleep onset?
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Parasomnias During the COVID-19 Pandemic
No full textParasomnias are undesirable physical events or experiences that occur during entry into sleep, within sleep, or during arousal from sleep. Parasomnias may occur during non-rapid eye movement sleep (NREM), rapid eye movement sleep (REM), or during transitions to and from sleep.1 Many parasomnias are the result of mixed states with the concomitant presence of multiple statedetermining biomarkers. According to the recent view of sleep as a "complex local phenomenon", different states of consciousness, such as wakefulness, NREM sleep and REM sleep, can concurrently result in these "altered", but not necessarily pathologic,2 states
Fatal Familial Insomnia: A Rare Disease with Unique Clinico-Neurophysiological Features
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