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Agrypnia excitata

Luca Baldelli, Federica Provini
Fatal 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...
May 2019: Autonomic Neuroscience: Basic & Clinical
Tae-Won Yang, Byeongsu Park, Keun Tae Kim, Jin-Sun Jun, Young-Soo Kim, Soon-Tae Lee, Keun-Hwa Jung, Kon Chu, Sang Kun Lee, Ki-Young Jung
RATIONALE: Fatal familial insomnia (FFI) is a human prion disease that is characterized by sleep-wake cycle deterioration, loss of slow-wave sleep, and motor overactivation over the daily 24-hour period. PATIENT CONCERNS: Here, we report the case of a 57-year-old man who had an irregular sleep-wake cycle and exhibited frequent movements and vocalizations during sleep. DIAGNOSES: Video-polysomnography showed disrupted sleep structure, rapid alternation between sleep stages, and an absence of sleep spindles and slow-wave sleep...
May 2018: Medicine (Baltimore)
Congcong Sun, Wen Xia, Ying Liu, Guoyong Jia, Cuilan Wang, Chuanzhu Yan, Yi Li
RATIONALE: Fatal familial insomnia (FFI) linked to a D178N/129M haplotype mutation in the PRNP gene is the most common genetic prion disease in the Han Chinese population. Here, we describe a Han Chinese patient with FFI who exhibited agrypnia excitata and obstructive apnea. PATIENT CONCERNS: A 46-year-old man displayed involuntary movements during sleep time, snoring, autonomic nervous system dysfunction, cognitive deficit, brainstem symptoms, myoclonus and ataxia in order within 8 months...
December 2017: Medicine (Baltimore)
Federico Rodriguez-Porcel, Lindsey Lowder, Rosa Rademakers, Thomas Ravenscroft, Bernardino Ghetti, Mathew C Hagen, Alberto J Espay
No abstract text is available yet for this article.
March 22, 2016: Neurology
Elena Antelmi, Raffaele Ferri, Alex Iranzo, Isabelle Arnulf, Yves Dauvilliers, Kailash P Bhatia, Rocco Liguori, Carlos H Schenck, Giuseppe Plazzi
The states of being are conventionally defined by the simultaneous occurrence of behavioral, neurophysiological and autonomic descriptors. State dissociation disorders are due to the intrusion of features typical of a different state into an ongoing state. Disorders related to these conditions are classified according to the ongoing main state and comprise: 1) Dissociation from prevailing wakefulness as seen in hypnagogic or hypnopompic hallucinations, automatic behaviors, sleep drunkenness, cataplexy and sleep paralysis 2) Dissociation from rapid eye movement (REM) sleep as seen in REM sleep behavior disorder and lucid dreaming and 3) Dissociation from NREM sleep as seen in the disorders of arousal...
August 2016: Sleep Medicine Reviews
Giovanna Calandra-Buonaura, Federica Provini, Pietro Guaraldi, Fabio Pizza, Annagrazia Cecere, Giorgio Barletta, Elio Lugaresi, Giulia Pierangeli, Pietro Cortelli
No abstract text is available yet for this article.
December 2013: Sleep Medicine
Federica Provini
Agrypnia (from the Greek: to chase sleep) excitata (AE) is a syndrome characterized by loss of sleep and permanent motor and autonomic hyperactivation (excitata). Disruption of the sleep-wake rhythm consists in the disappearance of spindle-delta activities, and the persistence of stage 1 non-rapid eye movement (NREM) sleep. Rapid eye movement (REM) sleep persists but fails to stabilize, appearing in short recurrent episodes, isolated, or mixed with stage 1 NREM sleep. Diurnal and nocturnal motor, autonomic and hormonal overactivity is the second hallmark of AE...
April 2013: Current Neurology and Neuroscience Reports
Pietro Guaraldi, Giovanna Calandra-Buonaura, Rossana Terlizzi, Pasquale Montagna, Elio Lugaresi, Paolo Tinuper, Pietro Cortelli, Federica Provini
Agrypnia excitata (AE) is a syndrome characterized by the inability to sleep associated with a generalized motor and autonomic over-activation. AE is caused by a thalamo-limbic system dysfunction and comprises three different conditions: Fatal Familial Insomnia (FFI), Delirium Tremens (DT), and Morvan Syndrome (MS). Oneiric Stupor episodes (OS) are the peculiar motor behaviour of AE. During OS patients perform simple automatic gestures mimicking daily-life activities. This paper is the first description of the different characteristics of OS in two patients with MS and another with FFI, emphasizing the specific clinical features that reliably differentiate OS from REM sleep behaviour disorders...
December 2011: Sleep Medicine
Elio Lugaresi, Federica Provini, Pietro Cortelli
The concept of Agrypnia excitata (AE) was originally proposed as a concept deriving from the clinical and anatomo-pathological observations obtained in three different diseases, Fatal familial insomnia (FFI), Delirium tremens (DT), and Morvan syndrome (MS). Agrypnia refers to a condition of severely reduced or absent sleep due to organic disorders. Excitata refers to the association of agrypnia with generalized motor and autonomic hyperactivation. AE is a syndrome that has been claimed to relate to a dysfunction in the thalamo-limbic circuits that govern sleep-wake cycles and autonomic activities...
December 2011: Sleep Medicine
Federica Provini, Sara Marconi, Marcello Amadori, Pietro Guaraldi, Giulia Pierangeli, Pietro Cortelli, Elio Lugaresi, Pasquale Montagna, Paolo Tinuper
INTRODUCTION: Morvan chorea is an antibody-mediated limbic encephalopathy characterized by severe insomnia, mental confusion, hallucinations, enacted dreams, hyperhidrosis, and neuromyotonia. CASE DESCRIPTION: In a 78 years old man presenting with progressive insomnia apathy and depression, a video-polysomnogram documented enacted dreams mimicking daily life activity (oneiric stupor). This finding led us to perform a search for serum antibodies to voltage-gated K+ channels, which was positive...
December 2011: Sleep Medicine
Ribhi Hazin, Jamil Y Abuzetun, Pierre Giglio, Faisal Khan
Agrypnia excitata is an extremely rare, life-threatening syndrome characterized by autonomic activation, persistent insomnia, and generalized overactivity. Agrypnia excitata describes a triad of three separate conditions: delirium tremens, Morvan's chorea, and familial fatal insomnia (FFI). Each of the aforementioned three conditions have sleep disturbances as a unifying theme and results in distinct neurophysiological findings. The following is an overview of agrypnia excitata with a particular emphasis placed upon each of the three individual conditions that constitute the syndrome with recommendations on appropriate management...
2009: Journal of Neuropsychiatry and Clinical Neurosciences
V Donadio, P Montagna, M Pennisi, R Rinaldi, V Di Stasi, P Avoni, E Bugiardini, M P Giannoccaro, P Cortelli, G Plazzi, A Baruzzi, R Liguori
OBJECTIVE: Agrypnia Excitata (AE) is characterized by autonomic over-activity and cardiovascular fluctuations but direct evidence of sympathoexcitation is lacking. AE is a common feature of acquired (i.e. Morvan's syndrome--MS) and genetic (i.e. fatal familial insomnia--FFI) conditions where a dysfunction of the thalamo-limbic system has been suggested. The aim of this study is to report the first microneurographic recordings of sympathetic activity in acquired and genetic AE to investigate the pattern of sympathetic activation...
June 2009: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Tatsuhiko Yagihashi, Motoichiro Kato, Kosuke Izumi, Rika Kosaki, Kaori Yago, Kazuo Tsubota, Yuji Sato, Minoru Okubo, Goro Watanabe, Takao Takahashi, Kenjiro Kosaki
Mulvihill-Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, short stature, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated. We report a 28-year-old woman with Mulvihill-Smith syndrome, who had a solid pseudopapillary cystic tumor of her pancreas at age 17 years. Her distinctive sleep pattern includes severe insomnia with disappearance of sleep spindles and K-complexes, persisting muscle tone, and loss of slow wave sleep...
March 2009: American Journal of Medical Genetics. Part A
F Provini, P Cortelli, P Montagna, P Gambetti, E Lugaresi
Fatal familial insomnia, a human prion disease, Morvan's chorea, an autoimmune limbic encephalopathy, and delirium tremens, the well-known alcohol (or benzodiazepine [BDZ]) withdrawal syndrome, share a clinical phenotype largely consisting in an inability to sleep associated with motor and autonomic activation. Agrypnia excitata is the term which aptly defines this clinical condition, whose pathogenetic mechanism consists in an intralimbic disconnection releasing the hypothalamus and brainstem reticular formation from corticolimbic inhibitory control...
August 2008: Revue Neurologique
Elio Lugaresi, Federica Provini
This review summarizes the pioneering steps culminating in the identification of a novel disease, fatal familial insomnia (FFI), a hereditary prion disease. Together with Morvan's chorea and delirium tremens, FFI is characterized by an inability to sleep associated with motor and autonomic overactivation. We named this pattern agrypnia excitata, a syndrome caused by a dysfunction in thalamolimbic circuits. This review highlights the strategic role of the limbic thalamus in the central autonomic network running from the limbic cortex to the lower brainstem and regulating sleep and wakefulness...
2007: Reviews in Neurological Diseases
J Iriarte, T Ayuso, C Echavarri, M Alegre, E Urrestarazu, F Lacruz, J Gállego, J Artieda
No abstract text is available yet for this article.
August 7, 2007: Neurology
Raffaele Ferri, Bartolo Lanuzza, Filomena I I Cosentino, Ivan Iero, Noemi Russo, Mariangela Tripodi, Paolo Bosco
We report the video-polysomnographic sleep characteristics of a 25-year-old woman with the Mulvihill-Smith syndrome, a rare clinical condition characterized by progeria-like aspect, peculiar multiple pigmented nevi, low stature, and cognitive impairment. Among the various exams, two overnight video-polysomnographic recordings were carried out; moreover, cerebral MRI and molecular analysis of the prion protein gene (PRNP) were also performed. The video-polysomnographic recordings showed the absence of clear sleep episodes but the presence of periods during which the patient had poor contact with the environment, stereotyped afinalistic movements of the upper limbs and hands, irregular or periodic breathing (with central apnea episodes), heart rate arrhythmia, and rapid eye movements...
December 2005: Journal of Sleep Research
Pasquale Montagna
Fatal Familial Insomnia (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/dysphagia, ataxia). Positon emission tomography (PET) disclosed thalamic hypometabolism and milder involvement of the cortex; neuropathology severe neuronal loss in the thalamic nuclei variably affecting the caudate, gyrus cinguli and fronto-temporal cortices. Genetic analysis disclosed a mutation in the PRNP gene and FFI was transmitted to experimental animals, thus classifying FFI within the prion diseases...
October 2005: Sleep Medicine Reviews
Federica Provini, Carolina Lombardi, Elio Lugaresi
Insomnia is the most common sleep complaint. Insomnia is not a disease itself but mostly a clinical sign of an underlying disease. Degenerative and vascular diseases involving the central nervous system (CNS) may impair sleep either as a result of the brain lesion or because of illness-related discomfort (motor immobility, social and familial impairment, depression, drugs). Some neurological conditions characterized by movement disorders that start or persist during sleep hinder sleep onset and/or sleep continuity, causing a poor sleep complaint...
March 2005: Seminars in Neurology
Vivien C Abad, Christian Guilleminault
The spectrum of rapid eye movement behavior disorders (RBD) spans various age groups, with the greatest prevalence in elderly men. Major diagnostic features include harmful or potentially harmful sleep behaviors that disrupt sleep continuity and dream enactment during rapid eye movement sleep. In RBD patients, the polysomnogram during rapid eye movement sleep demonstrates excessive augmentation of chin electromyogram or excessive chin or limb phasic electromyogram twitching. RBD may be associated with various neurodegenerative disorders, such as multiple system atrophy, Parkinson's disease, and dementia with Lewy bodies...
March 2004: Current Neurology and Neuroscience Reports
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