5,243 results match your criteria Narcolepsy
Cleve Clin J Med 2018 Dec;85(12):959-969
Assistant Professor and Consultant, Department of Neurology and Center for Sleep Medicine, Mayo Clinic, Rochester, MN, USA.
Narcolepsy is a chronic disorder of hypersomnia that can have a significant impact on quality of life and livelihood. However, with appropriate treatment, its symptoms are manageable, and a satisfying personal, social, and professional life can still be enjoyed. Greater awareness of the disorder promotes accurate and efficient diagnosis. Read More
Nat Biotechnol 2018 Dec;36(12):1130
Sleep Med 2018 Oct 15;53:133-140. Epub 2018 Oct 15.
Institute of Sleep Medicine and Neuromuscular Disorders, University Hospital Muenster, Germany. Electronic address:
Objective: Patients with chronic excessive daytime sleepiness (EDS) complain of substantial attention deficits. However, their underlying neuronal dysfunction is largely unknown. Previous studies showed similar attention performances in central disorders of hypersomnolence suggesting that EDS-related cognitive impairment is independent of its cause. Read More
Sleep Med Rev 2018 Nov 8;43:23-36. Epub 2018 Nov 8.
Center for Neuroscience, Biosciences Division, SRI International, Menlo Park, CA 94025, USA. Electronic address:
Excessive daytime sleepiness (EDS) and cataplexy are common symptoms of narcolepsy, a sleep disorder associated with the loss of hypocretin/orexin (Hcrt) neurons. Although only a few drugs have received regulatory approval for narcolepsy to date, treatment involves diverse medications that affect multiple biochemical targets and neural circuits. Clinical trials have demonstrated efficacy for the following classes of drugs as narcolepsy treatments: alerting medications (amphetamine, methylphenidate, modafinil/armodafinil, solriamfetol [JZP-110]), antidepressants (tricyclic antidepressants, selective serotonin reuptake inhibitors, serotonin-norepinephrine reuptake inhibitors), sodium oxybate, and the H-receptor inverse agonist/antagonist pitolisant. Read More
Sleep Med 2018 Jul 6;53:88-93. Epub 2018 Jul 6.
Sleepmed, Incorporated, Macon, GA, USA.
Objective: To assess the evolution of narcolepsy symptoms in first-, second, and third-degree relatives and to compare multiplex and simplex families.
Methods: A total of 4045 family members and 362 narcoleptic individuals were entered in the study; with 3255 family members interviewed twice, five to seven years apart. A control group (n = 178) composed of spouses or housemates was also interviewed twice. Read More
J Neurosci Nurs 2018 Nov 27. Epub 2018 Nov 27.
Questions or comments about this article may be directed to Sara Mithani, BSN RN, at She is a Doctoral Student, Sleep Neurobiology Laboratory, Center for Narcolepsy, Sleep, and Health Research, University of Illinois at Chicago College of Nursing, Chicago, IL. Anne M. Fink, PhD RN, Sleep Neurobiology Laboratory, Center for Narcolepsy, Sleep, and Health Research, University of Illinois at Chicago College of Nursing, Chicago, IL. A.M.F. is currently receiving a grant (R00NR01436) from the National Institute of Nursing Research and is on the advisory board for Data Sciences International.
Acute and chronic neurological disorders impair sleep. Despite the availability of theoretical/mathematical frameworks about sleep, the nursing profession rarely incorporates these models. The purpose of this article was to analyze the 2-process model of sleep regulation using Fawcett and DeSanto-Madeya's method, a systematic approach for determining whether a theory is relevant to nursing. Read More
J Clin Neurophysiol 2018 Nov 27. Epub 2018 Nov 27.
Departments of Neurology and.
Purpose: Heart rate variability is a noninvasive measure of autonomic function. The aim of this study was to determine the risk of cardiovascular autonomic dysfunction during sleep in patients with narcolepsy. The effect of daytime napping was also examined in patients with narcolepsy type 1 and type 2. Read More
Sleep 2018 Nov 26. Epub 2018 Nov 26.
Helsinki Sleep Clinic, Vitalmed Research Centre, Finland.
Study Objectives: To validate Ullanlinna Narcolepsy Scale (UNS) as a screening tool for narcolepsy in a clinical population and to compare it with Swiss Narcolepsy Scale (SNS) and Epworth Sleepiness Scale (ESS).
Methods: UNS questionnaires of 267 subjects visiting Helsinki Sleep Clinic were analyzed. The diagnoses of the subjects were narcolepsy type 1 (NT1, n = 89), type 2 (NT2, n = 10), other hypersomnias (n = 24), sleep apnea (n = 37), restless legs or periodic limb movement disorder (n = 56), and other sleep-related disorders (n = 51). Read More
Sleep 2018 Nov 23. Epub 2018 Nov 23.
Sleep Medicine Center Kempenhaeghe, Heeze, the Netherlands.
Study Objectives: To explore impairments in social functioning in pediatric narcolepsy patients compared to healthy children.
Methods: Parents of 53 pediatric patients with narcolepsy type 1 and 64 matched healthy children completed the Social Responsiveness Scale (SRS) and the Child Behavior Checklist (CBCL 6-18).
Results: Patients scored significantly higher on the total score of the SRS (median 56, IQR 23. Read More
Pak J Pharm Sci 2018 Sep;31(5(Special)):2229-2234
Operation room, Weihai Central Hospital of Shandong Province, Wendeng, China.
Cesarean section, as a stressor, inevitably produces negative emotions such as anxiety and may cause intraoperative discomfort and postoperative pain. Butorphanol is a commonly used analgesic in cesarean section. Butorphanol's postoperative analgesia can reduce the incidence of postoperative respiratory depression and play a good sedative effect. Read More
Immunity 2018 Nov;49(5):796-798
Department of Immunology, Duke University School of Medicine, Durham, NC 27705, USA; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC 27705, USA. Electronic address:
Researchers have previously hypothesized autoimmune origins for narcolepsy on the basis of its strong genetic association with an MHC class II allele. In a recent issue of Nature, Latorre et al. (2018) discovered that narcolepsy patients had autoreactive T cells specific to the neuronal antigen hypocretin, providing more evidence of the potential immune origin of the disease. Read More
Paediatr Child Health 2018 Sep 5;23(6):e95-e101. Epub 2018 Mar 5.
Division of Respiratory Medicine, Hospital for Sick Children, Toronto, Ontario.
Aim: Narcolepsy, encompassing excessive daytime sleepiness (EDS), cataplexy, sleep paralysis and hypnogogic hallucinations, was previously considered rare in childhood. Recently, cases of childhood narcolepsy have increased significantly and the reasons for this may include the increasing awareness of narcolepsy as well as the H1N1 vaccination. The aim of this study was to describe the clinical characteristics of childhood narcolepsy, specifically focusing on cataplexy subtypes that may facilitate early recognition of narcolepsy. Read More
Front Neurol 2018 2;9:936. Epub 2018 Nov 2.
Department of Respiratory and Critical Care Medicine, Sleep Medicine Center, Peking University People's Hospital, Beijing, China.
To identify narcolepsy related regional brain activity alterations compared with matched healthy controls. To determine whether these changes can be used to distinguish narcolepsy from healthy controls by recursive partitioning analysis (RPA) and receiver operating characteristic (ROC) curve analysis. Fifty-one narcolepsy with cataplexy patients (26 adults and 25 juveniles) and sixty matched heathy controls (30 adults and 30 juveniles) were recruited. Read More
Sleep 2018 Nov 16. Epub 2018 Nov 16.
Institute for Sleep Medicine and Neuromuscular Disorders, University of Muenster, Germany.
An autoimmune-mediated process in the pathophysiology of narcolepsy type 1 (NT1) is highly suspicious, if this pathomechanism is transferable to other types of central disorders of hypersomnolence (CDH), is still controversial. The association of NT1 with HLA-class-II system implicates a T-cell-mediated autoimmunity, in which helper CD4+ T-cells and cytotoxic CD8+ T-cells may be pathogenic.This study aimed to identify specific immune profiles in peripheral blood (PB) and cerebrospinal fluid (CSF) in different types of CDH. Read More
Front Endocrinol (Lausanne) 2018 31;9:647. Epub 2018 Oct 31.
Department of Endocrinology, The First Affiliated Hospital, China Medical University, Shenyang, China.
The orexin-A and its receptors are associated with many physiological processes in peripheral organs and the central nervous system and play important roles in a series of human diseases, including narcolepsy, obesity, and drug addiction. Increasing evidence has indicated high expression of orexin-A and OX1 receptor (OX1R) in malignant tumors, suggesting that the stimulation of OX1R might be essential for tumorigenesis. Here, we attempted to clarify the correlation between orexin-A expression and malignancy in pancreatic cancer. Read More
Hum Psychopharmacol 2018 Nov 13;33(6):e2679. Epub 2018 Nov 13.
Department of Psychiatry, Psychotherapy and Psychosomatics, Psychiatric Hospital of the University of Zurich, Zurich, Switzerland.
Objective: Gamma-hydroxybutyrate (GHB) is an endogenous GHB-/GABA-B receptor agonist and a narcolepsy treatment. However, GHB is also abused for its prohedonic effects. On a neuronal level, it was shown that GHB increases regional cerebral blood flow in limbic areas such as the right anterior insula (rAI) and the anterior cingulate cortex (ACC). Read More
Med Res Rev 2018 Nov 14. Epub 2018 Nov 14.
Department of Chemistry, Faculty of Science, University of Hradec Kralove, Hradec Kralove, Czech Republic.
Narcolepsy is a rare, chronic neurological disease characterized by excessive daytime sleepiness, cataplexy, vivid hallucinations, and sleep paralysis. Narcolepsy occurs in approximately 1 of 3000 people, affecting mainly adolescents aged 15 to 30 years. Recently, people with narcolepsy were shown to exhibit extensive orexin/hypocretin neuronal loss. Read More
Molecules 2018 Nov 9;23(11). Epub 2018 Nov 9.
Biomedical Research Centre, University Hospital Hradec Kralove, Sokolska 581, 500 05 Hradec Kralove, Czech Republic.
The neuropeptides, orexin A and orexin B (also known as hypocretins), are produced in hypothalamic neurons and belong to ligands for orphan G protein-coupled receptors. Generally, the primary role of orexins is to act as excitatory neurotransmitters and regulate the sleep process. Lack of orexins may lead to sleep disorder narcolepsy in mice, dogs, and humans. Read More
J Sleep Res 2018 Nov 13:e12785. Epub 2018 Nov 13.
Department of Anatomy, Charles University, First Faculty of Medicine, Prague, Czech Republic.
Narcolepsy with cataplexy is a lifelong disease resulting from the loss of hypocretin neurons in the hypothalamus; structural changes are not, however, limited only to the hypothalamus. We previously revealed an overall hippocampal volume loss in narcolepsy with cataplexy. The aim of this study is to describe the volume reduction of the anterior and posterior parts of the hippocampus in patients with narcolepsy with cataplexy in comparison with a control group. Read More
Neurosci Bull 2018 Nov 13. Epub 2018 Nov 13.
Sleep Medicine Center, Department of Respiratory and Critical Care Medicine, Peking University People's Hospital, Beijing, 100044, China.
The present study was aimed to evaluate resting-state functional connectivity and topological properties of brain networks in narcolepsy patients compared with healthy controls. Resting-state fMRI was performed in 26 adult narcolepsy patients and 30 matched healthy controls. MRI data were first analyzed by group independent component analysis, then a graph theoretical method was applied to evaluate the topological properties in the whole brain. Read More
Brain Nerve 2018 Nov;70(11):1279-1287
Department of Psychology and Humanities, Edogawa University.
The phenomenon called kanashibari in Japan is otherwise known as sleep paralysis and, is an established symptom of narcolepsy. Its physiological correlate is an unusual occurrence of rapid eye movement (REM) sleep, i.e. Read More
Brain Nerve 2018 Nov;70(11):1255-1263
International Institute for Integrative Sleep Medicine.
Narcolepsy-cataplexy is a debilitating disorder characterized by excessive daytime sleepiness and cataplexy, a bilateral loss of muscle tone triggered by positive emotions. The disease is caused by the loss of orexin-producing neurons in the hypothalamus. Currently, only symptom-oriented therapies are available for narcolepsy. Read More
Behav Neurol 2018 15;2018:1671072. Epub 2018 Oct 15.
Department of Neurology, Sleep Disorders Center, CIRCSom, Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France.
Narcolepsy type 1 is a rare disabling sleep disorder mainly characterized by excessive daytime sleepiness and cataplexy, an emotion-triggered sudden loss of muscle tone. Patients have a selective degeneration of hypocretin-producing neurons in the dorsolateral posterior hypothalamus with growing evidence supporting the hypothesis of an autoimmune mechanism. Few case studies that reported intravenous immunoglobulin therapy (IVIg) suggest the efficacy of IVIg when administered early after disease onset, but the results are controversial. Read More
Front Immunol 2018 25;9:2468. Epub 2018 Oct 25.
Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Mutations in , encoding a non-coding RNA molecule, underlie cartilage-hair hypoplasia (CHH), a syndromic immunodeficiency with multiple pathogenetic mechanisms and variable phenotype. Allergy and asthma have been reported in the CHH population and some patients suffer from autoimmune (AI) diseases. We explored AI and allergic manifestations in a large cohort of Finnish patients with CHH and correlated clinical features with laboratory parameters and autoantibodies. Read More
Sci Rep 2018 Nov 6;8(1):16391. Epub 2018 Nov 6.
Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
Narcolepsy type 1 is a chronic sleep disorder caused by a deficiency of the orexin (hypocretin) neuropeptides. In addition to sleep regulation, orexin is important for motivated control processes. Weight gain and obesity are common in narcolepsy. Read More
Sleep Med 2018 Dec 5;52:236. Epub 2018 Sep 5.
University of Edinburgh and Consultant Ophthalmic Surgeon Princess Alexandra Eye Pavilion, NHS Lothian, UK. Electronic address:
Zhonghua Yi Xue Za Zhi 2018 Oct;98(40):3253-3257
Department of Respiratory Medicine, Peking University International Hospital, Beijing 102206, China.
To discusses the predictive value of typical cataplexy+ HLA-DQB1*0602 positive to hypocretin-1 (HCRT-1) reduction in cerebrospinal fluid (CSF) in patients with narcolepsy. A total of 165 narcoleptic patients, who were diagnosed at the Sleep Center of Peking University People's Hospital and Peking University International Hospital from March 2003 to March 2017, were recruited. The CSF HCRT-1 level and DQB1*0602 were measured in all the subjects. Read More
Brain Imaging Behav 2018 Nov 3. Epub 2018 Nov 3.
Department of Neurology, Neuroscience Center, Samsung Medical Center, Samsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Annex 3rd F, #7, Gangnam-gu, Seoul, 06351, Korea.
Narcolepsy with cataplexy is characterized by excessive daytime sleepiness, cataplexy, and other REM sleep phenomena. Previous MRI studies were cross-sectional in design and could not adequately address if disease progression leads the brain structural abnormalities in narcolepsy. Our analysis in patients using longitudinally collected brain MRIs (n = 17; 2 scans per patient; scan interval: 4. Read More
Ann Neurol 2018 Nov 2. Epub 2018 Nov 2.
University of Montpellier, Montpellier, France.
Dan Med J 2018 Nov;65(11)
Introduction: Human papilloma virus (HPV) vaccine uptake in girls and women is dropping markedly in some countries. Concern about the presumed side effects is the commonest reason why. Reports about side effects include specific sleep complaints such as excessive daytime sleepiness, altered dream activity and periods of muscle weakness. Read More
Sleep Med 2018 Sep 20. Epub 2018 Sep 20.
Sleep and Epilepsy Center, Neurocenter of Southern Switzerland, Civic Hospital of Lugano (EOC), via Tesserete 46, Lugano, 6903, Switzerland.
Objective: A case-control study was performed to test the hypothesis that children with attention deficit hyperactivity disorder (ADHD) have chronic sleep deprivation and may be classified into specific sleep-related phenotypes.
Methods: Thirty outpatients with ADHD (nine females, mean age 10.1 ± 2. Read More
Expert Rev Respir Med 2018 Nov 2:1-13. Epub 2018 Nov 2.
a Department of Psychiatry & Behavioral Sciences, Division of Sleep Medicine , Stanford University , Redwood City , CA , USA.
Introduction: Obstructive sleep apnea (OSA) is highly prevalent and constitutes a major health hazard. Current pharmacotherapy is ineffective in correcting sleep-disordered breathing and is used adjunctively to address residual sleepiness. A new drug, solriamfetol, a selective norepinephrine-dopamine reuptake inhibitor, is the first drug of its class that is being considered by the US Food and Drug Administration (FDA) to treat excessive sleepiness in OSA and narcolepsy patients. Read More
Neuropharmacology 2019 Jan 22;144:244-255. Epub 2018 Oct 22.
Drug Discovery Biology, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia. Electronic address:
The histamine H receptor is a G protein-coupled receptor (GPCR) drug target that is highly expressed in the CNS, where it acts as both an auto- and hetero-receptor to regulate neurotransmission. As such, it has been considered as a relevant target in disorders as varied as Alzheimer's disease, schizophrenia, neuropathic pain and attention deficit hyperactivity disorder. A range of competitive antagonists/inverse agonists have progressed into clinical development, with pitolisant approved for the treatment of narcolepsy. Read More
Pract Neurol 2018 Oct 24. Epub 2018 Oct 24.
Department of Neurology, The James Cook University Hospital, Middlesbrough TS4 3BW, UK
Remarkably and almost invariably, the clinical phenomenon of cataplexy results from the loss of around 40 000 hypocretin-containing neurones in the lateral hypothalamus in the context of narcolepsy type 1. Cataplexy reflects the dysregulation of rapid-eye-movement (REM) sleep, such that REM-sleep atonia intrudes inappropriately into wakefulness as brief episodes of either focal or total paralysis of voluntary muscle. The semiology of cataplexy differs between adults and children. Read More
NeuroRehabilitation 2018 ;43(3):257-266
Department of Neurology Northwestern University, Chicago, IL, USA.
Background: Sleep disorders play a significant role in the care of those with Traumatic Brain Injury (TBI).
Objective: To provide a literature review on the interaction of sleep and circadian processes on those with TBI.
Methods: A literature review was conducted on PubMed using the following key words and their combination: "Sleep Apnea", "Traumatic Brain Injury", "Circadian", "Parasomnia", "Insomnia", "Hypersomnia", "Narcolepsy", and "Restless Legs". Read More
Neuropharmacology 2018 Oct 19. Epub 2018 Oct 19.
Swiss Federal Institute of Technology / ETH Zürich, D-HEST, Institute for Neuroscience, Schorenstrasse 16, Schwerzenbach 8603, Switzerland. Electronic address:
Homeostasis is the maintenance of a healthy physiological equilibrium in a changing world. Reactive (feedback, counter-regulatory) and predictive (feedforward, anticipatory) homeostatic control strategies are both important for survival. For example, in energy homeostasis, the pancreas reacts to ingested glucose by releasing insulin, whereas the brain prepares the body for ingestion through anticipatory salivation based on food-associated cues. Read More
BMC Neurol 2018 Oct 20;18(1):174. Epub 2018 Oct 20.
Department of Neurology, Zhujiang Hospital, Southern Medical University, 253 Industrial Avenue Middle, Guangzhou City, 510282, Guangdong Province, China.
Background: DNA methyltransferase 1 (EC 2.1.1. Read More
Br J Pharmacol 2018 Oct 19. Epub 2018 Oct 19.
The Wellcome-Wolfson Institute for Experimental Medicine, School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK.
Histamine has been one of the most studied substances in medicine, playing a major role in diverse (patho)physiological processes. It elicits its multifaceted modulatory functions by activating four types of GPCRs, designated as H . Despite the heterogeneity and the complexity of histamine receptor pharmacology, many discoveries over the past 100 years resulted in the development of H antihistamines and H -targeting 'blockbuster' therapeutics for the management of allergies and gastrointestinal disorders respectively. Read More
Handb Exp Pharmacol 2018 Oct 20. Epub 2018 Oct 20.
Department of Neurology, University Hospital Zurich, University of Zurich, Zürich, Switzerland.
Central disorders of hypersomnolence are characterized by daily periods of irrepressible need to sleep or daytime lapses into sleep, as defined in the current version of the International Criteria of Sleep Disorders. Thus, the unifying symptom is excessive daytime sleepiness which is not caused by any other sleep-wake disorder. Relevant disorders including narcolepsy type 1 and 2, idiopathic hypersomnia, Kleine-Levin syndrome, and insufficient sleep syndrome will be discussed. Read More
PLoS One 2018 17;13(10):e0204799. Epub 2018 Oct 17.
Julius Center Global Health, University Medical Center Utrecht, Utrecht, The Netherlands.
Background & Objectives: Vaccine safety signals require investigation, which may be done rapidly at the population level using ecological studies, before embarking on hypothesis-testing studies. Incidence rates were used to assess a signal of narcolepsy following AS03-adjuvanted monovalent pandemic H1N1 (pH1N1) influenza vaccination among children and adolescents in Sweden and Finland in 2010. We explored the utility of ecological data to assess incidence of narcolepsy following exposure to pandemic H1N1 virus or vaccination in 10 sites that used different vaccines, adjuvants, and had varying vaccine coverage. Read More
Clin Auton Res 2018 Dec 16;28(6):507-508. Epub 2018 Oct 16.
Department of Neurology, Dysautonomia Center, New York University School of Medicine, New York, NY, USA.
Praxis (Bern 1994) 2018;107(21):1161-1167
1 Universitäres Schlaf-Wach-Epilepsie Zentrum des Inselspitals Bern.
Narcolepsy and Other 'Central Disorders of Hypersomnolence' Abstract. 'Excessive daytime sleepiness', 'hypersomnia' in the sense of prolonged sleep need, 'tiredness' or 'fatigue' are frequent complaints in primary care, requiring a careful separation in view of a correct diagnostic. After exclusion of various internistic and neurologic causes by clinical and laboratory investigations and after exclusion of sleep apnoea syndrome or other causes of disturbed sleep by polysomnography, the ambiguous group of 'Central Disorders of Hypersomnolence' remains, including narcolepsy with and without cataplexy, idiopathic hypersomnia, and non-organic hypersomnia. Read More
Eur J Endocrinol 2018 Dec;179(6):373-380
Assistance Publique-Hôpitaux de Paris, Robert Debré University Hospital, Endocrinology-Diabetology Department, Reference Center for Endocrine Growth and Developmental Diseases, Paris, France.
Objective Non-idiopathic CPP is caused by acquired or congenital hypothalamic lesions visible on MRI or is associated with various complex genetic and/or syndromic disorders. This study investigated the different types and prevalence of non-isolated CPP phenotypes. Design and Methods This observational cohort study included all patients identified as having non-idiopathic CPP in the database of a single academic pediatric care center over a period of 11. Read More
Arch Ital Biol 2018 Sep;156(3):87-98
Nieuwe Achtergracht 129 B, 1018 WS Amsterdam, The Netherlands - Email:
Anecdotal reports recount of individuals obtaining insights during sleep. For instance, various acclaimed scientists have attributed some of their greatest insights to sleep-related mentation. To date, this phenomenon has not been systematically investigated. Read More
Sleep Med 2018 Dec 20;52:150-157. Epub 2018 Sep 20.
Clinical Epidemiology and Biometric Unit, IRCCS Policlinico S. Matteo Foundation, viale Golgi 19, 27100, Pavia, Italy.
Study Objectives: we performed a meta-analysis to assess the usefulness of HLA testing for Narcolepsy diagnosis in four major ethnical groups: Asians, Afro-Americans, Amerindians and Caucasians.
Methods: PubMed, EMBASE, Web of Science, Scopus and Cochrane databases were searched for articles in English and French published before October 2017 on HLA class II alleles in Narcolepsy. We included case-control studies, cross-sectional and retrospective cohort studies with patients diagnosed following the International classifications of sleep disorders (1990-2012) and ethnically matched controls. Read More
Sleep Med 2018 Dec 18;52:128-133. Epub 2018 Sep 18.
Hacettepe University, Faculty of Medicine, Department of Radiology, Ankara, Turkey.
Objective: The distinctive clinical finding of Type 1 narcolepsy compared to Type 2 is the presence of cataplexy. Several neuroimaging studies have also reported abnormalities in narcolepsy patients with or without cataplexy. However, there are conflicting results to differentiate them. Read More
Sleep Med 2018 Dec 18;52:237. Epub 2018 Sep 18.
Mayo Clinic, Department of Neurology, USA; Mayo Clinic, Division of Biomedical Statistics and Informatics, USA; Mayo Clinic, Center for Sleep Medicine, USA; Mayo Clinic, Department of Pediatric and Adolescent Medicine, USA.
Neurobiol Aging 2019 Jan 15;73:231.e1-231.e6. Epub 2018 Sep 15.
Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada. Electronic address:
GCH1 encodes the enzyme guanosine triphospahte (GTP) cyclohydrolase 1, essential for dopamine synthesis in nigrostriatal cells, and rare mutations in GCH1 may lead to Dopa-responsive dystonia (DRD). While GCH1 is implicated in genomewide association studies in Parkinson's disease (PD), only a few studies examined the role of rare GCH1 variants in PD, with conflicting results. In the present study, GCH1 and its 5' and 3' untranslated regions were sequenced in 1113 patients with PD and 1111 controls. Read More
Sleep Med 2018 Dec 5;52:235. Epub 2018 Sep 5.
Mayo Clinic, Department of Neurology, USA; Mayo Clinic, Division of Biomedical Statistics and Informatics, USA; Mayo Clinic, Center for Sleep Medicine, USA; Mayo Clinic, Department of Pediatric and Adolescent Medicine, USA.