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Alexis Roman, Soraya Meftah, Sébastien Arthaud, Pierre-Hervé Luppi, Christelle Peyron
Narcolepsy type 1 is a disabling disorder with four primary symptoms: excessive-daytime-sleepiness, cataplexy, hypnagogic hallucinations and sleep paralysis. The three latter symptoms together with a short REM sleep latency have suggested impairment in REM sleep homeostatic regulation with an enhanced propensity for (i.e. tendency to enter) REM sleep. To test this hypothesis, we challenged REM sleep homeostatic regulation in a recognized model of narcolepsy, the orexin knock-out (Orex-KO) mice and their wild-type (WT) littermates...
March 7, 2018: Sleep
Marco Filardi, Fabio Pizza, Elena Antelmi, Raffaele Ferri, Vincenzo Natale, Giuseppe Plazzi
Study Objectives: Sodium oxybate (SXB) is a GABAergic agent widely used as off-label treatment in pediatric type 1 narcolepsy (NT1). Here we aimed at analyzing by wrist actigraphy the sleep/wake profile of NT1 children and adolescents in drug-naïve condition and after 1 year of SXB treatment. As secondary aim, we investigated changes on sleepiness, cataplexy and children's anthropometric profile after 1 year of SXB treatment. Methods: Twenty-four drug-naïve NT1 children underwent seven days of actigraphy during the school week...
March 7, 2018: Sleep
Monica Moresco, Fabio Pizza, Elena Antelmi, Giuseppe Plazzi
Narcolepsy type 1 (NT1) is a rare chronic neurologic disorder characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hallucinations and disrupted nocturnal sleep, usually with onset during childhood/adolescence. Pediatric NT1 is associated with limitations on children's activities and achievements, especially poor performance at school, difficulty with peers due to disease symptoms and comorbidities including depression, obesity, and precocious puberty. NT1 disease is caused by the selective loss of hypocretin-producing neurons in the lateral hypothalamus, most probably related to an autoimmune pathophysiology...
March 5, 2018: Current Drug Metabolism
Helle Sadam, Arno Pihlak, Anri Kivil, Susan Pihelgas, Mariliis Jaago, Priit Adler, Jaak Vilo, Olli Vapalahti, Toomas Neuman, Dan Lindholm, Markku Partinen, Antti Vaheri, Kaia Palm
BACKGROUND: Neuropathological findings support an autoimmune etiology as an underlying factor for loss of orexin-producing neurons in spontaneous narcolepsy type 1 (narcolepsy with cataplexy; sNT1) as well as in Pandemrix influenza vaccine-induced narcolepsy type 1 (Pdmx-NT1). The precise molecular target or antigens for the immune response have, however, remained elusive. METHODS: Here we have performed a comprehensive antigenic repertoire analysis of sera using the next-generation phage display method - mimotope variation analysis (MVA)...
February 2, 2018: EBioMedicine
Kiran Maski, Judith Owens
PURPOSE OF REVIEW: This article provides an overview of the clinical features, diagnosis, and treatment of insomnia, restless legs syndrome, periodic limb movements of sleep, parasomnias, narcolepsy, and sleep-related breathing disorders among children and adolescents. RECENT FINDINGS: Pediatric presentations of sleep disorders differ from adult presentations, making diagnosis challenging. Specific clinical syndromes, such as cataplexy in children with narcolepsy type 1, can have an altogether different presentation compared to adult-onset symptoms, contributing to diagnostic delays and potential misdiagnoses...
February 2018: Continuum: Lifelong Learning in Neurology
Fabio Pizza, Elena Antelmi, Stefano Vandi, Stefano Meletti, Roberto Erro, Christian R Baumann, Kailash P Bhatia, Yves Dauvilliers, Mark J Edwards, Alex Iranzo, Sebastiaan Overeem, Michele Tinazzi, Rocco Liguori, Giuseppe Plazzi
Objectives: To describe the motor pattern of cataplexy and to determine its phenomenological differences from pseudocataplexy in the differential diagnosis of episodic falls. Methods: We selected 30 video recorded cataplexy and 21 pseudocataplexy attacks in 17 and 10 patients evaluated for suspected narcolepsy and with final diagnosis of narcolepsy type 1 and conversion disorder respectively, together with self-reported attacks features, and asked expert neurologists to blindly evaluate the motor features of the attacks...
February 7, 2018: Sleep
Mihoko Shimada, Taku Miyagawa, Hiromi Toyoda, Katsushi Tokunaga, Makoto Honda
Narcolepsy with cataplexy, which is a hypersomnia characterized by excessive daytime sleepiness and cataplexy, is a multifactorial disease caused by both genetic and environmental factors. Several genetic factors including HLA-DQB1*06:02 have been identified, however the disease etiology is still unclear. Epigenetic modifications, such as DNA methylation, have been suggested to play an important role in the pathogenesis of complex diseases. Here we examined DNA methylation profiles of blood samples from narcolepsy and healthy control individuals, and performed an epigenome-wide association study (EWAS) to investigate methylation loci associated with narcolepsy...
February 7, 2018: Sleep
S C Ren, Z X Tian, Y X Deng, Y J Wang, X J Wu, Y Z Zhang, B Q Gao
Objective: To analyze the clinical manifestations, therapeutic efficacy, prognosis and characteristics of NPC1 mutation in Chinese patients with Niemann-Pick disease type C(NPC). Methods: Ten unrelated Chinese NPC patients were diagnosed by NPC1 mutation analysis from July 2013 to February 2017 in Beijing Tian Tan Hospital of Capital Medical University. Clinical data of 10 cases were analyzed retrospectively which included clinical manifestations, laboratory results and NPC1 gene mutation features, and a series of follow-up were carried out about therapeutic efficacy and prognosis...
January 23, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Tom Jefferson, Alessandro Rivetti, Carlo Di Pietrantonj, Vittorio Demicheli
BACKGROUND: The consequences of influenza in children and adults are mainly absenteeism from school and work. However, the risk of complications is greatest in children and people over 65 years of age. This is an update of a review published in 2011. Future updates of this review will be made only when new trials or vaccines become available. Observational data included in previous versions of the review have been retained for historical reasons but have not been updated because of their lack of influence on the review conclusions...
February 1, 2018: Cochrane Database of Systematic Reviews
Edison Chen, Valeria Lallai, Yasmine Sherafat, Nickolas P Grimes, Anna N Pushkin, J P Fowler, Christie D Fowler
The recent development of transgenic rodent lines expressing cre recombinase in a cell-specific manner, along with advances in engineered viral vectors, has permitted in-depth investigations into circuit function. However, emerging evidence has begun to suggest that genetic modifications may introduce unexpected caveats. In the current studies, we sought to extensively characterize male and female mice from both the ChAT(BAC)-Cre mouse line, created with the bacterial artificial chromosome (BAC) method, and ChAT(IRES)-Cre mouse line, generated with the internal ribosome entry site (IRES) method...
January 25, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
P Medrano-Martinez, M J Ramos-Platon, R Peraita-Adrados
AIM: To describe the current state of the art about the main cognitive deficits that appear in patients affected with narcolepsy with cataplexy (NT1). DEVELOPMENT: The majority of the studies have found that the most impaired cognitive functions are attention (especially maintenance of attention or sustained attention), speed of information processing and executive functions (in particular, verbal fluency and resistance to the stimuli interference). These data indicate the difficulty to use the available cognitive resources of the patient...
February 1, 2018: Revista de Neurologia
Stefano Vandi, Fabio Pizza, Elena Antelmi, Giulia Neccia, Martina Iloti, Alice Mazzoni, Patrizia Avoni, Giuseppe Plazzi
OBJECTIVE/BACKGROUND: Cataplexy is the pathognomonic symptom of narcolepsy type 1 (NT1). Since it is considered difficult to be directly observed or documented by clinicians, its diagnosis relies mainly on history taking. Our study aimed at testing the feasibility of a standardized video recording procedure under emotional stimulation to document cataplexy in the diagnostic work-up of suspected hypersomnia of central origin. PATIENTS/METHODS: Two-hundred-eight consecutive patients underwent the diagnostic work-up and reached the final diagnosis of NT1 (n = 133), idiopathic hypersomnia or narcolepsy type 2 (IH/NT2 group, n = 33), or subjective excessive daytime sleepiness (sEDS group, n = 42)...
October 9, 2017: Sleep Medicine
Younghoon Kwon, Louis Kazaglis, Yeilim Cho, Michael J Howell, Mark W Mahowald
Reliability of mean sleep latency testing (MSLT) over consecutive days in patients with hypersomnia is unknown. We reviewed MSLTs of patients with hypersomnia without cataplexy who underwent our two consecutive MSLT protocol (N=29). Average MSLs were 10.9 and 10.9 minutes for days 1 and 2, respectively. Agreement for pathological hypersomnia (defined as MSL≤8 minutes) between MSLT days showed k=0.85 for all (N=29) and k=0.76 for those without sleep apnea (N=20). In patients with subjective complaints of hypersomnia, a single MSLT is sufficient (vs...
October 2017: Sleep and Biological Rhythms
Carmen Mannucci, Simona Pichini, Elvira Ventura Spagnolo, Fabrizio Calapai, Sebastiano Gangemi, Michele Navarra, Gioacchino Calapai
BACKGROUND: Gamma-hydroxybutyrate (GHB or sodium oxybate) is both an exogenous and endogenous molecule with neuromodulator properties. In the United States, GHB is an approved drug for the treatment of narcolepsy and narcolepsy with cataplexy in adults. In some European Union countries, sodium oxybate is applied for the treatment of opioid and alcohol withdrawal. OBJECTIVE: The aim of the present review was to describe the state of art of the pre-clinical research and the clinical evidence related to GHB used alone or in combination with other treatments in alcohol withdrawal syndrome and alcohol abstinence maintenance...
December 7, 2017: Current Drug Metabolism
Alana D Steffen, Chinglin Lai, Terri E Weaver
Our objective was to define responder criteria using an anchor-based approach for frequency of cataplexy attacks and excessive daytime sleepiness in patients with narcolepsy undergoing sodium oxybate treatment. We used pooled data from two randomized, placebo-controlled, double-blind, multicentre 4- and 8-week trials of sodium oxybate for narcolepsy with cataplexy and analysed using receiver operator characteristics analysis. The percentage change in frequency of weekly cataplexy attacks and the Epworth Sleepiness Scale outcomes were compared with Clinical Global Impression of Change ratings, used as the anchor to define true response...
December 5, 2017: Journal of Sleep Research
Thomas Rossor, Ming Lim, Kirandeep VanDenEshof, Paul Gringras
Type 1 narcolepsy (NT1) is a chronic primary disorder of hypersomnolence characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hypnagogic hallucinations and disrupted nocturnal sleep. NT1 is linked to hypothalamic hypocretin deficiency, strongly associated with Human Leukocyte Antigen (HLA) marker DQB1*06:02 and of probable autoimmune origin. NT1 is usually associated with increased rates of overweight and obesity, and sometimes with increases in overnight blood pressure and increased rates of hypoventilation with raised CO2 levels overnight...
January 2018: European Journal of Paediatric Neurology: EJPN
Demeke Geremew, Ania Rahimi-Golkhandan, Khosro Sadeghniiat-Haghighi, Yadollah Shakiba, Ahmad Khajeh-Mehrizi, Bita Ansaripour, Maryam Izad
Narcolepsy is a rare, disabling disorder characterized by excessive daytime sleepiness, cataplexy, hypnagogic hallucinations and sleep paralysis. Several studies demonstrated its association with HLA-DQB1*0602 in various ethnic groups. Our study aimed to determine the prevalence of HLA-DQB1*0602 allele in Iranian patients with narcolepsy and assess its predictive parameters for diagnosing narcolepsy. In addition, car accidents and job problems were assessed among narcoleptic patients. We studied 44 narcoleptic patients, 30 patients with other types of excessive daytime sleepiness (EDS)  and 50 healthy age and sex matched individuals in this case-control study...
October 2017: Iranian Journal of Allergy, Asthma, and Immunology
Jian-Bo Lai, Mao-Mao Han, Yi Xu, Shao-Hua Hu
RATIONALE: Narcolepsy is a rare sleep disorder with disrupted sleep-architecture. Clinical management of narcolepsy lies dominantly on symptom-driven pharmacotherapy. The treatment role of repetitive transcranial magnetic stimulation (rTMS) for narcolepsy remains unexplored. PATIENT CONCERNS: In this paper, we present a case of a 14-year-old young girl with excessive daytime sleepiness (EDS), cataplexy and hypnagogic hallucinations. DIAGNOSES: After excluding other possible medical conditions, this patient was primarily diagnosed with narcolepsy...
November 2017: Medicine (Baltimore)
Althea Robinson Shelton, Beth Malow
STUDY OBJECTIVE: Excessive daytime sleepiness, the hallmark of narcolepsy, predisposes patients to serious performance decrements in multiple areas of function. Psychosocial dysfunction has been demonstrated in adults and children with narcolepsy. Several factors could influence psychosocial functioning in children. The objective of this study was to examine neurobehavioral problems in children with narcolepsy and to define associations with these problem behaviors. METHODS: A cross-sectional study was performed where the Child Behavior Checklist (CBCL) was completed by guardians of children (age 18 years or younger) in whom narcolepsy with or without cataplexy was diagnosed (based on the International Classification of Sleep Disorders, Second Edition) between July 2008 and October 2014...
November 1, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
Diana K Coleman, Brit Long, Alex Koyfman
BACKGROUND: Syncope is an event that causes a transient loss of consciousness (LOC) secondary to global cerebral hypoperfusion. The transient nature of the event can make diagnosis in the emergency department (ED) difficult, as symptoms have often resolved by time of initial presentation. The symptoms and presentation of syncope are similar to many other conditions, which can lead to difficulty in establishing a diagnosis in the ED. OBJECTIVE: This review evaluates patients presenting with a history concerning for possible syncope, mimics of syncope, and approach to managing syncope mimics...
January 2018: Journal of Emergency Medicine
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