Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

REM Sleep Behavior Disorder01:15

REM Sleep Behavior Disorder

1.0K
REM Sleep Behavior Disorder (RBD) is a sleep disorder characterized by the absence of muscle paralysis that normally occurs during the REM phase of sleep. This absence allows individuals to physically act out their dreams, which are often vivid and disturbing. Common behaviors exhibited during episodes include kicking, punching, and yelling. These actions can be dangerous, potentially leading to injuries for the person with RBD or their bed partner.
RBD is significantly associated with...
1.0K
Substance Use Disorders Affecting Sleep01:24

Substance Use Disorders Affecting Sleep

323
Substance use disorders involve a pattern of using drugs more extensively than intended and continuing use despite harmful consequences. This includes legal substances like alcohol and nicotine, as well as illegal drugs. These disorders often involve both physical and psychological dependence, reflecting compulsive use of substances that significantly alter thoughts, feelings, and behaviors, contributing to a major public health issue.
Understanding the concepts of physical dependence,...
323
Restless Leg Syndrome and Night Terrors01:27

Restless Leg Syndrome and Night Terrors

382
Restless Leg Syndrome (RLS), also known as Willis-Ekbom disease, is a neurological disorder characterized by an uncontrollable urge to move the legs due to uncomfortable sensations. These sensations typically occur during periods of rest or inactivity, particularly when lying down or sitting, and can severely disrupt sleep.
The exact cause of RLS is not fully understood, but it is believed to involve dopamine, a neurotransmitter that helps regulate muscle movement. Imbalances in dopamine levels...
382
Narcolepsy01:07

Narcolepsy

371
Narcolepsy is a chronic sleep disorder characterized by pervasive, uncontrolled sleepiness and other sleep disturbances. One of its hallmark symptoms is an abrupt transition to REM sleep upon falling asleep, which causes symptoms typically associated with this phase to occur unexpectedly during wakefulness. These include the following symptoms, which typically last from a minute or two to half an hour.
371
Sleep-Wake Cycles01:24

Sleep-Wake Cycles

2.6K
Sleep is an essential physiological process vital to maintaining overall well-being. The reticular activating system (RAS), a network of neurons in the brainstem, regulates wakefulness and sleep. While it may seem passive, sleep consists of distinct cycles, each with its unique characteristics and functions. Two key sleep phases are non-rapid eye movement (NREM) and  rapid eye movement (REM).
NREM Sleep
NREM sleep comprises four progressive stages that seamlessly merge:
2.6K
Sedatives and Hypnotics Drugs: Miscellaneous Agents01:17

Sedatives and Hypnotics Drugs: Miscellaneous Agents

396
Sedatives and hypnotics encompass a wide range of substances, each with its unique mechanism of action, uses, and potential adverse effects.
Melatonin congeners like ramelteon (Rozerem) and tasimelteon (Hetlioz) selectively bind to melatonin receptors (MT1 and MT2) and thus mimic the actions of melatonin, a hormone that regulates sleep-wake cycles. Tasimelteon is primarily used for non-24-hour sleep-wake disorder, common in blind patients. They are also used to treat conditions like insomnia...
396

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Myotonia Mimicking Paroxysmal Dystonia: Two Cases of SCN4A Temperature-Sensitive Sodium Channelopathy.

Movement disorders clinical practice·2026
Same author

Dystonia in Parkinson's disease: Clinical characteristics and predictors of treatment response.

Parkinsonism & related disorders·2026
Same author

Large Muscle Movements During Sleep Across the Synucleinopathy Spectrum: A Polysomnographic Study of Isolated REM Sleep Behavior Disorder and Parkinson's Disease.

Sleep·2026
Same author

Large language model analysis of real-world phone calls reveals prodromal and progressive biomarker of parkinsonism: A two-year proof-of-concept study.

PLOS digital health·2026
Same author

A sacred prelude to aphasia: Demystifying a diagnostic trinity.

Parkinsonism & related disorders·2026
Same author

Bridging the global Parkinson's divide: Technology as a structural solution for equitable and brain health-integrated care.

Journal of Parkinson's disease·2026

Related Experiment Video

Updated: Dec 17, 2025

A Chronic Sleep Fragmentation Model using Vibrating Orbital Rotor to Induce Cognitive Deficit and Anxiety-Like Behavior in Young Wild-Type Mice
06:23

A Chronic Sleep Fragmentation Model using Vibrating Orbital Rotor to Induce Cognitive Deficit and Anxiety-Like Behavior in Young Wild-Type Mice

Published on: September 22, 2020

5.9K

GBA variants in REM sleep behavior disorder: A multicenter study.

Lynne Krohn1, Jennifer A Ruskey1, Uladzislau Rudakou1

  • 1From the Department of Human Genetics (L.K., U.R., G.A.R., Z.G.-O.), Montreal Neurological Institute (L.K., J.A.R., U.R., E.L., F.A., R.B.P., G.A.R., Z.G.-O.), and Department of Neurology and Neurosurgery (J.A.R., F.A., R.B.P., G.A.R., Z.G.-O.), McGill University, Montréal; Oxford Parkinson's Disease Centre (M.T.M.H.) and Nuffield Department of Clinical Neurosciences (M.T.M.H.), University of Oxford, UK; Sleep Disorders Unit (I.A.), Pitié Salpêtrière Hospital, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière and Sorbonne Universities, Paris; National Reference Center for Narcolepsy, Sleep Unit (Y.D.), Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm U1061, France; Sleep Disorders Unit, Department of Neurology (B.H., A.S.), Medical University of Innsbruck, Austria; Department of Clinical Neurophysiology and Sleep Center (C.C.M.), University Lille North of France, CHU Lille; Sleep Disorder Unit (B.A.), Carémeau Hospital, University Hospital of Nîmes, France; Department of Biomedical and Neuromotor Sciences (DIBINEM) (G.P., E.A.), Alma Mater Studiorum, University of Bologna; IRCCS (G.P., E.A.), Istituto delle Scienze Neurologiche, Bologna; Department of Neurological Sciences (L.F.-S.), Università Vita-Salute San Raffaele, Milan, Italy; Department of Neurology with Institute of Translational Neurology (A.H.), University of Muenster, Germany; Department of Neurology (B.F.B.), Mayo Clinic, Rochester, MN; UC Gardner Neuroscience Institute and Gardner Family Center for Parkinson's Disease and Movement Disorders (A.J.E.), Cincinnati, OH; Sleep and Neurology Unit (V.C.D.C.), Beau Soleil Clinic, Montpellier; EuroMov (V.C.D.C.), University of Montpellier, France; Paracelsus-Elena-Klinik (B.M., F.S.-D., C.T.), Kassel; Department of Neurology (B.M., C.T.), University Medical Centre Goettingen; Department of Neurology (F.S.-D., W.O.), Philipps University, Marburg, Germany; Department of Neurology and Centre of Clinical Neuroscience (K.S., D.K.), Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic; Department of Medical Sciences and Public Health, Sleep Disorder Research Center (M.F., M.P.), University of Cagliari, Italy; Laboratory for Sleep Disorders (F.D., M.V.) and Department of Neurology (F.D., M.V.), St. Dimpna Regional Hospital, Geel, Belgium; Department of Medicine (DAME) (M.T., M.V.), University of Udine, Italy; Department of Clinical and Movement Neurosciences (M.T.), UCL Queen Square Institute of Neurology, London, UK; Clinical Neurology Unit (G.L.G., M.V.), Department of Neurosciences, University Hospital of Udine; DMIF (G.L.G.), University of Udine, Italy; Centre d'Études Avancées en Médecine du Sommeil (J.-F.G., A.D., J.Y.M., R.B.P.), Hôpital du Sacré-Cœur de Montréal; and Departments of Psychology (J.-F.G.), Neurosciences (A.D.), and Psychiatry (J.Y.M.), Université du Québec à Montréal, Canada.

Neurology
|June 28, 2020
PubMed
Summary

Glucocerebrosidase (GBA) variants significantly increase the risk of isolated REM sleep behavior disorder (iRBD). These variants may also accelerate conversion to neurodegeneration, suggesting potential screening opportunities.

More Related Videos

Author Spotlight: Unveiling the Connection Between Sleep Disorders and Cognitive Symptoms in Depression
04:33

Author Spotlight: Unveiling the Connection Between Sleep Disorders and Cognitive Symptoms in Depression

Published on: April 26, 2024

1.1K
Author Spotlight: Overcoming Challenges in Drosophila Sleep Measurement Using DAM System
05:59

Author Spotlight: Overcoming Challenges in Drosophila Sleep Measurement Using DAM System

Published on: October 20, 2023

2.9K

Related Experiment Videos

Last Updated: Dec 17, 2025

A Chronic Sleep Fragmentation Model using Vibrating Orbital Rotor to Induce Cognitive Deficit and Anxiety-Like Behavior in Young Wild-Type Mice
06:23

A Chronic Sleep Fragmentation Model using Vibrating Orbital Rotor to Induce Cognitive Deficit and Anxiety-Like Behavior in Young Wild-Type Mice

Published on: September 22, 2020

5.9K
Author Spotlight: Unveiling the Connection Between Sleep Disorders and Cognitive Symptoms in Depression
04:33

Author Spotlight: Unveiling the Connection Between Sleep Disorders and Cognitive Symptoms in Depression

Published on: April 26, 2024

1.1K
Author Spotlight: Overcoming Challenges in Drosophila Sleep Measurement Using DAM System
05:59

Author Spotlight: Overcoming Challenges in Drosophila Sleep Measurement Using DAM System

Published on: October 20, 2023

2.9K

Area of Science:

  • Genetics
  • Neurology
  • Sleep Medicine

Background:

  • Isolated REM sleep behavior disorder (iRBD) is a prodromal sign of synucleinopathies.
  • Glucocerebrosidase (GBA) gene variants are implicated in neurodegenerative diseases.

Purpose of the Study:

  • To investigate the association between GBA variants and the risk of iRBD.
  • To examine the impact of GBA variants on age at onset and conversion to overt neurodegeneration.

Main Methods:

  • Full sequencing of the GBA gene in 4,147 individuals (1,061 iRBD patients, 3,086 controls).
  • Analysis of GBA variant effects on iRBD risk, age at onset, and conversion rates.

Main Results:

  • GBA variants were more frequent in iRBD patients (9.5%) than controls (4.1%), showing a 2.45-fold increased risk.
  • Severe GBA variants were associated with an earlier age at onset (52.8 years) and a higher conversion rate to neurodegeneration (52.5% vs. 35.6%).
  • Mild variants also increased iRBD risk (OR 3.69), with a trend for faster conversion in severe variant carriers, though these findings require larger sample validation.

Conclusions:

  • GBA variants are strongly linked to increased iRBD risk and potentially accelerated neurodegeneration.
  • Screening healthy GBA variant carriers for RBD could identify individuals at high risk for future synucleinopathies.