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Narcolepsy

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https://www.readbyqxmd.com/read/28213850/gamma-hydroxybutyrate-ghb-content-in-hair-samples-correlates-negatively-with-age-in-succinic-semialdehyde-dehydrogenase-deficiency
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28164110/narcolepsy-and-influenza-vaccination-induced-autoimmunity
#6
COMMENT
S Sohail Ahmed, Lawrence Steinman
No abstract text is available yet for this article.
January 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28162825/safety-of-quadrivalent-live-attenuated-influenza-vaccine-in-subjects-aged-2-49years
#7
Roger Baxter, Abigail Eaton, John Hansen, Laurie Aukes, Herve Caspard, Christopher S Ambrose
BACKGROUND: Quadrivalent live attenuated influenza vaccine (Q/LAIV) was licensed in 2012 and replaced trivalent live attenuated influenza vaccine in the United States during the 2013-2014 influenza season. This study assessed the safety of Q/LAIV in children and adults aged 2-49years. METHODS: This was a prospective observational cohort study using data collected from Kaiser Permanente Northern California. Post-vaccination events of interest were any hospitalization, hospitalization for lower respiratory tract infection, and the following medically attended events: hypersensitivity, seizures/convulsions, lower respiratory tract infection, wheezing, Guillain-Barré syndrome, Bell's palsy, encephalitis, neuritis, vasculitis, and narcolepsy/cataplexy...
February 2, 2017: Vaccine
https://www.readbyqxmd.com/read/28162143/patient-reported-measures-of-narcolepsy-the-need-for-better-assessment
#8
Ulf Kallweit, Markus Schmidt, Claudio L Bassetti
STUDY OBJECTIVES: Narcolepsy, a chronic disorder of the central nervous system, is clinically characterized by a symptom pentad that includes excessive daytime sleepiness, cataplexy, sleep paralysis, hypnopompic/hypnagogic hallucinations, and disrupted nighttime sleep. Ideally, screening and diagnosis instruments that assist physicians in evaluating a patient for type 1 or type 2 narcolepsy would be brief, easy for patients to understand and physicians to score, and would identify or rule out the need for electrophysiological testing...
January 31, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28159098/reducing-the-clinical-and-socioeconomic-burden-of-narcolepsy-by-earlier-diagnosis-and-effective-treatment
#9
REVIEW
Michael Thorpy, Anne Marie Morse
The burden of narcolepsy is likely the result of 2 main aspects: the clinical difficulties and disability incurred as a direct effect of the disorder and the socioeconomic burden. The clinical burden includes the symptoms, diagnosis, comorbidities, treatment, and even mortality that can be associated with narcolepsy. Lifelong therapy is necessary for these patients. Effective treatment results in long-term benefits from both patient and societal perspectives by improving clinical outcomes, potentially enabling improved education and increased employment and work productivity, and quality of life...
March 2017: Sleep Medicine Clinics
https://www.readbyqxmd.com/read/28159097/hypersomnia-evaluation-treatment-and-social-and-economic-aspects
#10
REVIEW
Prabhjyot Saini, David B Rye
Most central disorders of hypersomnolence are conditions with poorly understood pathophysiologies, making their identification, treatment, and management challenging for sleep clinicians. The most challenging to diagnose and treat is idiopathic hypersomnia. There are no FDA-approved treatments, and off-label usage of narcolepsy treatments seldom provide benefit. Patients are largely left on their own to alleviate the compound effects of this disorder on their quality of life. This review covers the major points regarding clinical features and diagnosis of idiopathic hypersomnia, reviews current evidence supporting the available treatment options, and discusses the psychosocial impact and effects of idiopathic hypersomnia...
March 2017: Sleep Medicine Clinics
https://www.readbyqxmd.com/read/28153208/morbidity-of-childhood-onset-narcolepsy-a-controlled-national-study
#11
Poul Jennum, Line Pickering, Eva Wiberg Thorstensen, Rikke Ibsen, Jakob Kjellberg
: Narcolepsy is associated with significant morbidities. We evaluated the morbidities and mortality in a national group of child and adolescent patients after a first diagnosis of narcolepsy. METHODS: Identified from the Danish National Patient Registry (NPR), 243 patients (128 boys) aged 0-19 years diagnosed with narcolepsy between 1998 and 2012 with follow-up until 2014 were compared with 970 controls who were randomly chosen from the Danish Civil Registration System Statistics and matched by age, gender and geography...
January 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28153207/vitamin-d-deficiency-in-type-1-narcolepsy-a-reappraisal
#12
Yves Dauvilliers, Elisa Evangelista, Regis Lopez, Lucie Barateau, Sabine Scholz, Barbara Crastes de Paulet, Bertrand Carlander, Isabelle Jaussent
OBJECTIVES: Narcolepsy type 1 (NT1) is considered to be an immune-mediated disease in which environmental factors, such as vitamin D, might play a major role. The association between NT1 and vitamin D deficiency has previously been reported. The aim of this case-control study was to reassess vitamin D levels in a large clinic-based adult and paediatric population of patients with NT1 by considering several potential confounding factors. METHODS: The serum level of 25-hydroxyvitamin D (25OHD) was measured in 174 Caucasian patients with NT1 and 174 controls...
January 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28139340/ultra-high-performance-liquid-chromatography-tandem-mass-spectrometry-determination-of-ghb-ghb-glucuronide-in-plasma-and-cerebrospinal-fluid-of-narcoleptic-patients-under-sodium-oxybate-treatment
#13
Roberta Tittarelli, Simona Pichini, Daniel S Pedersen, Roberta Pacifici, Monica Moresco, Fabio Pizza, Francesco Paolo Busardò, Giuseppe Plazzi
Sodium oxybate (Xyrem(®)), the sodium salt of γ- hydroxybutyric acid (GHB), is a first-line treatment of the symptoms induced by type 1 narcolepsy (NT1) and it is highly effective in improving sleep architecture, decreasing excessive daytime sleepiness and the frequency of cataplexy attacks. Using an ultra-high-performance liquid chromatography tandem mass spectrometry (UHPLC-MS/MS) validated method, GHB was determined together with its glucuronide (GHB-gluc), in plasma and cerebrospinal fluid (CSF) samples of NT1 patients under sodium oxybate treatment...
January 25, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28129985/safety-and-efficacy-of-pitolisant-on-cataplexy-in-patients-with-narcolepsy-a-randomised-double-blind-placebo-controlled-trial
#14
Zoltan Szakacs, Yves Dauvilliers, Vladimir Mikhaylov, Irina Poverennova, Sergei Krylov, Slavko Jankovic, Karel Sonka, Philippe Lehert, Isabelle Lecomte, Jeanne-Marie Lecomte, Jean-Charles Schwartz
BACKGROUND: Histaminergic neurons are crucial to maintain wakefulness, but their role in cataplexy is unknown. We assessed the safety and efficacy of pitolisant, a histamine H3 receptor inverse agonist, for treatment of cataplexy in patients with narcolepsy. METHODS: For this randomised, double-blind, placebo-controlled trial we recruited patients with narcolepsy from 16 sleep centres in nine countries (Bulgaria, Czech Republic, Hungary, Macedonia, Poland, Russia, Serbia, Turkey, and Ukraine)...
January 24, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28123336/narcolepsy-and-cataplexy-a-pediatric-case-report
#15
Tülin Savaş, Ilknur Erol, Semra Saygı, Mehmet Ali Habeşoğlu
Narcolepsy is characterized by excessive sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis during the rapid eye movement period of sleep. Herein, we present a boy aged eight years who was diagnosed as having narcolepsy and cataplexy about thirteen months after his first presentation. He was admitted with symptoms of daytime sleepiness. In the follow-up, cataplexy in the form of head dropping attacks developed seven months after the first admission. The patient was investigated for different prediagnoses and was eventually diagnosed as having narcolepsy and cataplexy through polysomnography and multiple sleep latency tests thirteen months after the first presentation...
December 2016: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28121444/whole-proteome-peptide-microarrays-for-profiling-autoantibody-repertoires-within-multiple-sclerosis-and-narcolepsy
#16
Arash Zandian, Björn Forsström, Anna Häggmark-Månberg, Jochen M Schwenk, Mathias Uhlén, Peter Nilsson, Burcu Ayoglu
The underlying molecular mechanisms of autoimmune diseases are poorly understood. To unravel the autoimmune processes across diseases, comprehensive and unbiased analyses of proteins targets recognized by the adaptive immune system are needed. Here we present an approach starting from high-density peptide arrays to characterize autoantibody repertoires and to identify new autoantigens. A set of ten plasma and serum samples from subjects with multiple sclerosis, narcolepsy, and without any disease diagnosis were profiled on a peptide array representing the whole proteome, hosting 2...
February 9, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28119166/in-vitro-toxicological-evaluation-of-ncs-382-a-high-affinity-antagonist-of-%C3%AE-hydroxybutyrate-ghb-binding
#17
K R Vogel, G R Ainslie, J-B Roullet, A McConnell, K M Gibson
γ-Hydroxybutyric acid (GHB), a minor metabolite of the inhibitory neurotransmitter GABA, can accumulate to significant concentrations in the heritable disorder of GABA degradation, succinic semialdehyde dehydrogenase (SSADH) deficiency (SSADHD). Moreover, GHB may be employed in therapeutic settings (treatment of narcolepsy), as well as instances of illicit activity, including acquaintance sexual assault and the induction of euphoria. High-affinity binding sites for GHB in the brain have been identified, although the absolute identity of these receptors remains unclear...
January 22, 2017: Toxicology in Vitro: An International Journal Published in Association with BIBRA
https://www.readbyqxmd.com/read/28115274/toxicity-of-the-amphetamine-metabolites-4-hydroxyamphetamine-and-4-hydroxynorephedrine-in-human-dopaminergic-differentiated-sh-sy5y-cells
#18
R Feio-Azevedo, V M Costa, L M Ferreira, P S Branco, F C Pereira, M L Bastos, F Carvalho, J P Capela
Amphetamine (AMPH) is a psychostimulant used worldwide by millions of patients in the clinical treatment of attention deficit hyperactivity disorder, narcolepsy or even obesity, and is also a drug of abuse. 4-Hydroxynorephedrine (4-OHNE) and 4-hydroxyamphetamine (4-OHAMPH) are two major metabolites known to persist in the brain longer than AMPH. The contribution of AMPH metabolites for its neurotoxicity is undetermined. We evaluated the toxicity of AMPH and its metabolites 4-OHNE and 4-OHAMPH, obtained by chemical synthesis, in human dopaminergic differentiated SH-SY5Y neurons...
January 20, 2017: Toxicology Letters
https://www.readbyqxmd.com/read/28110168/ultra-high-performance-liquid-chromatography-tandem-mass-spectrometry-uhplc-ms-ms-for-determination-of-ghb-precursors-and-metabolites-in-different-specimens-application-to-clinical-and-forensic-cases
#19
Francesco Paolo Busardò, Chrystalla Kyriakou, Emilia Marchei, Roberta Pacifici, Daniel Sejer Pedersen, Simona Pichini
Gamma-hydroxybutyric acid (GHB) acts as a precursor and metabolite of the inhibitory central nervous system (CNS) neurotransmitter gamma-aminobutyric acid (GABA). Sodium salt of GHB has been used as a medication for narcolepsy and alcohol withdrawal. Moreover, GHB and its precursor gamma-butyrolactone (GBL), are illegal recreational drugs of abuse. A procedure based on ultra-high-performance liquid chromatography tandem mass spectrometry has been developed and validated in plasma, urine, cerebrospinal fluid and hair for acute and chronic exposure to GHB and in seized preparations coming from black market...
January 9, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28108192/epidemiology-and-pathophysiology-of-childhood-narcolepsy
#20
REVIEW
Thomas J Dye, Neepa Gurbani, Narong Simakajornboon
It is now recognized that there are two types of narcolepsy. Narcolepsy type I or Narcolepsy with cataplexy is caused by the loss of hypocretin or orexin neurons. Narcolepsy type II or narcolepsy without cataplexy has normal hypocretin and the etiology is unknown. Hypocretin is a neuropeptide produced by neurons in the lateral hypothalamus. Both genetic and environmental factors play a crucial role in the pathogenesis of narcolepsy. Most patients with narcolepsy type I and half of patients with narcolepsy type II carry HLA-DQB1*0602...
December 21, 2016: Paediatric Respiratory Reviews
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