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Narcolepsy

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https://www.readbyqxmd.com/read/28334952/dnmt1-mutations-found-in-hsanie-patients-affect-interaction-with-uhrf1-and-neuronal-differentiation
#1
Martha Smets, Stephanie Link, Patricia Wolf, Katrin Schneider, Veronica Solis, Joel Ryan, Daniela Meilinger, Weihua Qin, Heinrich Leonhardt
DNMT1 is recruited to substrate sites by PCNA and UHRF1 to maintain DNA methylation after replication. The cell cycle dependent recruitment of DNMT1 is mediated by the PCNA-binding domain (PBD) and the targeting sequence (TS) within the N-terminal regulatory domain. The TS domain was found to be mutated in patients suffering from hereditary sensory and autonomic neuropathies with dementia and hearing loss (HSANIE) and autosomal dominant cerebellar ataxia deafness and narcolepsy (ADCA-DN) and is associated with global hypomethylation and site specific hypermethylation...
March 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28332559/the-immunogenetics-of-narcolepsy-associated-with-a-h1n1-pdm09-vaccination-pandemrix-supports-a-potent-gene-environment-interaction
#2
I L Bomfim, F Lamb, K Fink, A Szakács, A Silveira, L Franzén, V Azhary, M Maeurer, N Feltelius, N Darin, T Hallböök, L Arnheim-Dahlström, I Kockum, T Olsson
The influenza A(H1N1)pdm09 vaccination campaign from 2009 to 2010 was associated with a sudden increase in the incidence of narcolepsy in several countries. Narcolepsy with cataplexy is strongly associated with the human leukocyte antigen (HLA) class II DQB1*06:02 allele, and protective associations with the DQB1*06:03 allele have been reported. Several non-HLA gene loci are also associated, such as common variants of the T-cell receptor-α (TRA), the purinergic receptor P2RY11, cathepsin H (CTSH) and TNFSF4/OX40L/CD252...
March 23, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28329117/muscle-activity-during-sleep-in-human-subjects-rats-and-mice-towards-translational-models-of-rem-sleep-without-atonia
#3
Alessandro Silvani, Raffaele Ferri, Viviana Lo Martire, Stefano Bastianini, Chiara Berteotti, Agnese Salvadè, Giuseppe Plazzi, Marco Zucconi, Luigi Ferini-Strambi, Claudio L Bassetti, Mauro Manconi, Giovanna Zoccoli
Study Objectives: rapid-eye-movement (REM) sleep without atonia (RSWA) is a marker of REM sleep behavior disorder (RBD) and is common in narcolepsy. Available techniques for electromyogram (EMG) analysis are species-specific, limiting translational research on RSWA. We developed an automated technique based on distributions of normalized EMG values (DNE) to overcome this limitation. With DNE, we tested whether the control of neck and tibialis anterior (TA) muscles during sleep in wild-type rats and mice validly models the control of submentalis (chin) and TA muscles in healthy humans...
February 22, 2017: Sleep
https://www.readbyqxmd.com/read/28326118/spectral-analysis-of-polysomnography-in-narcolepsy
#4
Seok Ho Yun, Ho Dong Choi, Wan Seok Seo
OBJECTIVE: This study was conducted to identify differences between people with narcolepsy and the normal control of delta and theta activity using electroencephalogram (EEG) spectrum analysis of nocturnal polysomnography (PSG). METHODS: Seven narcolepsy patients and seven age-sex matched normal controls underwent PSG and multiple sleep latency tests. Participants' non-rapid eye movement (NREM) sleep EEGs in PSG was analyzed using a Fast Fourier Transform technique...
March 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/28321606/evidence-for-cognitive-resource-imbalance-in-adolescents-with-narcolepsy
#5
Suzanne T Witt, Natasha Morales Drissi, Sofie Tapper, Anna Wretman, Attila Szakács, Tove Hallböök, Anne-Marie Landtblom, Thomas Karlsson, Peter Lundberg, Maria Engström
The study investigated brain activity changes during performance of a verbal working memory task in a population of adolescents with narcolepsy. Seventeen narcolepsy patients and twenty healthy controls performed a verbal working memory task during simultaneous fMRI and EEG acquisition. All subjects also underwent MRS to measure GABA and Glutamate concentrations in the medial prefrontal cortex. Activation levels in the default mode network and left middle frontal gyrus were examined to investigate whether narcolepsy is characterized by an imbalance in cognitive resources...
March 20, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/28302408/narcolepsy-and-hypersomnia-in-norwegian-children-and-young-adults-following-the-influenza-a-h1n1-2009-pandemic
#6
Lill Trogstad, Inger Johanne Bakken, Nina Gunnes, Sara Ghaderi, Camilla Stoltenberg, Per Magnus, Siri E Håberg
BACKGROUND: Associations between influenza infection and sleep disorders are poorly studied. We investigated if pandemic influenza infection or vaccination with Pandemrix in 2009/2010 was associated with narcolepsy or hypersomnia in children and young adults. METHODS: We followed the Norwegian population under age 30 from January 2008 through December 2012 by linking national health registry data. Narcolepsy diagnoses were validated using hospital records. Risks of narcolepsy or hypersomnia were estimated as adjusted hazard ratios (HRs) in Cox regression models with influenza infection and vaccination as time-dependent exposures...
March 13, 2017: Vaccine
https://www.readbyqxmd.com/read/28284776/neural-underpinnings-of-prosexual-effects-induced-by-gamma-hydroxybutyrate-in-healthy-male-humans
#7
Oliver G Bosch, Michael M Havranek, Andrea Baumberger, Katrin H Preller, Robin von Rotz, Marcus Herdener, Rainer Kraehenmann, Philipp Staempfli, Milan Scheidegger, Tim Klucken, Erich Seifritz, Boris B Quednow
Gamma-hydroxybutyrate (GHB) is a GHB-/GABAB-receptor agonist currently used as treatment for narcolepsy but also as a drug of abuse. Non-medical GHB users have repeatedly reported prosexual effects including libido-enhancement and lowering of attractiveness standards for partner selection. Here, we examined the putative prosexual effects of oral GHB in healthy males in two experiments both employing randomized, placebo-controlled, double-blind, balanced, and cross-over study designs. In experiment I, subjective effects of 20 and 35mg/kg GHB vs...
March 8, 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28258080/measurement-of-narcolepsy-symptoms-the-narcolepsy-severity-scale
#8
Yves Dauvilliers, Severine Beziat, Carole Pesenti, Regis Lopez, Lucie Barateau, Bertrand Carlander, Gianina Luca, Mehdi Tafti, Charles M Morin, Michel Billiard, Isabelle Jaussent
OBJECTIVE: To validate the Narcolepsy Severity Scale (NSS), a brief clinical instrument to evaluate the severity and consequences of symptoms in patients with narcolepsy type 1 (NT1). METHODS: A 15-item scale to assess the frequency and severity of excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, sleep paralysis, and disrupted nighttime sleep was developed and validated by sleep experts with patients' feedback. Seventy untreated and 146 treated adult patients with NT1 were evaluated and completed the NSS in a single reference sleep center...
March 3, 2017: Neurology
https://www.readbyqxmd.com/read/28251619/narcolepsy-patients-blood-based-mirna-expression-profiling-mirna-expression-differences%C3%A2-with-pandemrix-vaccination
#9
N Mosakhani, V Sarhadi, P Panula, M Partinen, S Knuutila
OBJECTIVES: Narcolepsy is a neurological sleep disorder characterized by excessive daytime sleepiness and nighttime sleep disturbance. Among children and adolescents vaccinated with Pandemrix vaccine in Finland and Sweden, the number of narcolepsy cases increased. Our aim was to identify miRNAs involved in narcolepsy and their association with Pandemrix vaccination. MATERIALS AND METHODS: We performed global miRNA proofing by miRNA microarrays followed by RT-PCR verification on 20 narcolepsy patients (Pandemrix-associated and Pandemrix-non-associated) and 17 controls (vaccinated and non-vaccinated)...
March 1, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28248144/what-is-narcolepsy
#10
(no author information available yet)
No abstract text is available yet for this article.
March 1, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28243864/hypersomnolence-hypersomnia-and-mood-disorders
#11
REVIEW
Lucie Barateau, Régis Lopez, Jean Arthur Micoulaud Franchi, Yves Dauvilliers
Relationships between symptoms of hypersomnolence, psychiatric disorders, and hypersomnia disorders (i.e., narcolepsy and idiopathic hypersomnia) are complex and multidirectional. Hypersomnolence is a common complaint across mood disorders; however, patients suffering from mood disorders and hypersomnolence rarely have objective daytime sleepiness, as assessed by the current gold standard test, the Multiple Sleep Latency Test. An iatrogenic origin of symptoms of hypersomnolence, and sleep apnea syndrome must be considered in a population of psychiatric patients, often overweight and treated with sedative drugs...
February 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28235898/gabaergic-neurons-of-the-central-amygdala-promote-cataplexy
#12
Carrie E Mahoney, Lindsay J Agostinelli, Jessica N K Brooks, Bradford B Lowell, Thomas E Scammell
Narcolepsy is characterized by chronic sleepiness and cataplexy - sudden muscle paralysis triggered by strong, positive emotions. Narcolepsy is caused by a lack of orexin (hypocretin) signaling, but little is known about the neural mechanisms that mediate cataplexy. The amygdala regulates responses to rewarding stimuli and contains neurons active during cataplexy. In addition, lesions of the amygdala reduce cataplexy. As GABAergic neurons of the central nucleus of the amygdala (CeA) target brainstem regions known to regulate muscle tone, we hypothesized that these cells promote emotion-triggered cataplexy...
February 24, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28229024/modafinil-decreases-anxiety-like-behaviour-in-zebrafish
#13
Adrian Johnson, Trevor James Hamilton
Modafinil (2-((diphenylmethyl)sulfinyl)acetamide), a selective dopamine and norepinephrine transporter inhibitor, is most commonly prescribed for narcolepsy but has gained recent interest for treating a variety of disorders. Zebrafish (Danio rerio) are becoming a model of choice for pharmacological and behavioural research. To investigate the behavioural effects of modafinil on anxiety, we administered doses of 0, 2, 20, and 200 mg/L for 30 minutes then tested zebrafish in the novel approach test. In this test, the fish was placed into a circular arena with a novel object in the center and motion-tracking software was used to quantify the time the fish spent in the outer area of the arena (thigmotaxis zone), middle third of the arena (transition zone) and center of the arena, as well as total distance traveled, immobility and meandering...
2017: PeerJ
https://www.readbyqxmd.com/read/28223162/the-roles-of-histamine-and-its-receptor-ligands-in-central-nervous-system-disorders-an-update
#14
REVIEW
Weiwei Hu, Zhong Chen
The neurotransmitter histamine receives less attention compared with other biogenic amines, because of its moderate action in the central nervous system (CNS). However, recent evidence suggests that histamine plays an important role in multiple CNS disorders including insomnia, narcolepsy, Parkinson's diseases, schizophrenia, Alzheimer's disease, and cerebral ischemia. New insights are emerging into the potential roles of histamine receptors as targets for the treatment of these diseases. Although some histamine related agents have failed in clinical trials, current preclinical studies suggest that this neurotransmitter may still have extensive applications in treating CNS disorders, however, advanced studies are warranted...
February 20, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28219726/diagnostic-value-of-sleep-stage-dissociation-as-visualized-on-a-2-dimensional-sleep-state-space-in-human-narcolepsy
#15
Anders Vinther Olsen, Jens Stephansen, Eileen Leary, Paul E Peppard, Hong Sheungshul, Poul Jenum, Helge Sorensen, Emmanuel Mignot
BACKGROUND: Type 1 narcolepsy (NT1) is characterized by symptoms believed to represent Rapid Eye Movement (REM) sleep stage dissociations, occurrences where features of wake and REM sleep are intermingled, resulting in a mixed state. We hypothesized that sleep stage dissociations can be objectively detected through the analysis of nocturnal Polysomnography (PSG) data, and that those affecting REM sleep can be used as a diagnostic feature for narcolepsy. NEW METHOD: A Linear Discriminant Analysis (LDA) model using 38 features extracted from EOG, EMG and EEG was used in control subjects to select features differentiating wake, stage N1, N2, N3 and REM sleep...
February 20, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28213850/gamma-hydroxybutyrate-ghb-content-in-hair-samples-correlates-negatively-with-age-in-succinic-semialdehyde-dehydrogenase-deficiency
#16
S S Johansen, X Wang, D Sejer Pedersen, P L Pearl, J-B Roullet, G R Ainslie, K R Vogel, K M Gibson
Gamma-hydroxybutyrate (GHB) is a drug of abuse, an approved therapeutic for narcolepsy, an agent employed for facilitation of sexual assault, as well as a biomarker of succinic semialdehyde dehydrogenase deficiency (SSADHD). Our laboratory seeks to identify surrogate biomarkers in SSADHD that can shed light on the developmental course of this neurometabolic disease. Since GHB may be quantified in hair as a potential surrogate to identify victims of drug-related assault, we have opted to examine its level in SSADHD...
February 18, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28212698/is-it-time-for-immunotherapy-trials-in-narcolepsy
#17
Andreas Lutterotti
No abstract text is available yet for this article.
February 15, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28209737/gaba-cells-in-the-central-nucleus-of-the-amygdala-promote-cataplexy
#18
Matthew B Snow, Jimmy J Fraigne, Gabrielle Thibault-Messier, Victoria L Chuen, Aren Thomasian, Richard L Horner, John Peever
Cataplexy is a hallmark of narcolepsy characterized by the sudden uncontrollable onset of muscle weakness or paralysis during wakefulness. It can occur spontaneously, but is typically triggered by positive emotions such as laughter. Although cataplexy was identified over 130 years ago, its neural mechanism remains unclear. Here, we show that a newly identified GABA circuit within the central nucleus of the amygdala (CeA) promotes cataplexy. We used behavioral, electrophysiological, immunohistochemical, and chemogenetic strategies to selectively target and manipulate CeA activity in narcoleptic (orexin(-/-) ) mice to determine its functional role in controlling cataplexy...
February 16, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28179689/narcolepsy
#19
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
February 9, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28179647/narcolepsy
#20
REVIEW
Birgitte R Kornum, Stine Knudsen, Hanna M Ollila, Fabio Pizza, Poul J Jennum, Yves Dauvilliers, Sebastiaan Overeem
Narcolepsy is a chronic sleep disorder that has a typical onset in adolescence and is characterized by excessive daytime sleepiness, which can have severe consequences for the patient. Problems faced by patients with narcolepsy include social stigma associated with this disease, difficulties in obtaining an education and keeping a job, a reduced quality of life and socioeconomic consequences. Two subtypes of narcolepsy have been described (narcolepsy type 1 and narcolepsy type 2), both of which have similar clinical profiles, except for the presence of cataplexy, which occurs only in patients with narcolepsy type 1...
February 9, 2017: Nature Reviews. Disease Primers
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