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Acta Otorrinolaringologica Espanola May 2024Anti-IgLON5 disease is a recently described neurological disorder with multisystemic features. The disease is characterized by the presence of IgLON5 antibodies in serum...
INTRODUCTION
Anti-IgLON5 disease is a recently described neurological disorder with multisystemic features. The disease is characterized by the presence of IgLON5 antibodies in serum and cerebrospinal fluid. Our objective is to describe in detail the otorhinolaryngological manifestations of this disease, which are frequent and may include dysphagia, dysarthria, vocal cord paralysis and laryngospasm.
METHODS
In this study, we present a series of 9 patients with anti-IgLON5 disease and otolaryngological manifestations. Patients were evaluated between July 2012 and March 2022 by video-polysomnography, fiber-optic laryngoscopy, and functional endoscopic evaluation of swallowing.
RESULTS
The median age was 71 years, and 5 (56%) were female. Video-polysomnography showed a NREM/REM parasomnia in 6 patients (67%), obstructive sleep apnea in 8 (88%), stridor during sleep in 7 (78%) and central apneas in 1 (11%). Six out of the 9 patients (67%) presented episodes of acute respiratory failure that required mechanical ventilation, 6 had vocal fold palsy with 4 of them requiring tracheostomy (3 had to be performed on an emergency basis). Dysphagia occurred in 8 patients (89%). Prominent upper airway secretion and sialorrhea was also present in 3 cases.
CONCLUSION
The anti-IgLON5 disease exhibits extensive otolaryngological symptoms, mainly affecting the upper airway. These symptoms affect the quality of life and can be life-threatening. Prompt acute management is essential for stridor, dyspnea, and dysphagia. Given the potential severity of the symptoms and rarity of the disease, it is important for otolaryngologists to be familiar with anti-IgLON5 disease.
LEVEL OF EVIDENCE
Level 4.
PubMed: 38729239
DOI: 10.1016/j.otoeng.2024.04.001 -
PloS One 2024Restless Legs Syndrome (RLS) is a common sleep disorder characterized by an urge to move the legs that is responsive to movement (particularly during rest), periodic leg...
Restless Legs Syndrome (RLS) is a common sleep disorder characterized by an urge to move the legs that is responsive to movement (particularly during rest), periodic leg movements during sleep, and hyperarousal. Recent evidence suggests that the involvement of the adenosine system may establish a connection between dopamine and glutamate dysfunction in RLS. Transcranial magnetic stimulation (TMS) is a non-invasive electrophysiological technique widely applied to explore brain electrophysiology and neurochemistry under different experimental conditions. In this pilot study protocol, we aim to investigate the effects of dipyridamole (a well-known enhancer of adenosinergic transmission) and caffeine (an adenosine receptor antagonist) on measures of cortical excitation and inhibition in response to TMS in patients with primary RLS. Initially, we will assess cortical excitability using both single- and paired-pulse TMS in patients with RLS. Then, based on the measures obtained, we will explore the effects of dipyridamole and caffeine, in comparison to placebo, on various TMS parameters related to cortical excitation and inhibition. Finally, we will evaluate the psycho-cognitive performance of RLS patients to screen them for cognitive impairment and/or mood-behavioral dysfunction, thus aiming to correlate psycho-cognitive findings with TMS data. Overall, this study protocol will be the first to shed lights on the neurophysiological mechanisms of RLS involving the modulation of the adenosine system, thus potentially providing a foundation for innovative "pharmaco-TMS"-based treatments. The distinctive TMS profile observed in RLS holds indeed the potential utility for both diagnosis and treatment, as well as for patient monitoring. As such, it can be considered a target for both novel pharmacological (i.e., drug) and non-pharmacological (e.g., neuromodulatory), "TMS-guided", interventions.
Topics: Humans; Restless Legs Syndrome; Transcranial Magnetic Stimulation; Caffeine; Pilot Projects; Dipyridamole; Male; Adenosine; Adult; Female; Purinergic P1 Receptor Antagonists; Middle Aged; Proof of Concept Study
PubMed: 38728342
DOI: 10.1371/journal.pone.0302829 -
Nature Communications May 2024Sleepwalking and related parasomnias result from incomplete awakenings out of non-rapid eye movement sleep. Behavioral episodes can occur without consciousness or...
Sleepwalking and related parasomnias result from incomplete awakenings out of non-rapid eye movement sleep. Behavioral episodes can occur without consciousness or recollection, or in relation to dream-like experiences. To understand what accounts for these differences in consciousness and recall, here we recorded parasomnia episodes with high-density electroencephalography (EEG) and interviewed participants immediately afterward about their experiences. Compared to reports of no experience (19%), reports of conscious experience (56%) were preceded by high-amplitude EEG slow waves in anterior cortical regions and activation of posterior cortical regions, similar to previously described EEG correlates of dreaming. Recall of the content of the experience (56%), compared to no recall (25%), was associated with higher EEG activation in the right medial temporal region before movement onset. Our work suggests that the EEG correlates of parasomnia experiences are similar to those reported for dreams and may thus reflect core physiological processes involved in sleep consciousness.
Topics: Humans; Dreams; Electroencephalography; Male; Female; Adult; Parasomnias; Young Adult; Consciousness; Mental Recall; Sleep, REM; Middle Aged; Sleep
PubMed: 38724511
DOI: 10.1038/s41467-024-48337-7 -
Sleep Medicine Reviews Jun 2024Catathrenia is a loud expiratory moan during sleep that is a social embarrassment and is sometimes confused with central apnea on polysomnography. It affects about 4% of...
Catathrenia is a loud expiratory moan during sleep that is a social embarrassment and is sometimes confused with central apnea on polysomnography. It affects about 4% of adults, but cases are rarely referred to sleep centers. Catathrenia affects males and females, children and adults, who are usually young and thin. A "typical" catathrenia begins with a deep inhalation, followed by a long, noisy exhalation, then a short, more pronounced exhalation, followed by another deep inhalation, often accompanied by arousal. The many harmonics of the sound indicate that it is produced by the vocal cords. It is often repeated in clusters, especially during REM sleep and at the end of the night. It does not disturb the sleepers, but their neighbors, and is associated with excessive daytime sleepiness in one-third of cases. The pathophysiology and treatment of typical catathrenia are still unknown. Later, a more atypical catathrenia was described, consisting of episodes of short (2 s), regular, semi-continuous expiratory moans during NREM sleep (mainly in stages N1 and N2) and REM sleep, often in people with mild upper airway obstruction. This atypical catathrenia is more commonly reduced by positive airway pressure and mandibular advancement devices that promote vertical opening.
Topics: Adult; Child; Female; Humans; Male; Parasomnias; Polysomnography; Respiratory Sounds; Sleep Apnea, Central; Sleep Stages; Sleep, REM
PubMed: 38718707
DOI: 10.1016/j.smrv.2024.101944 -
Sleep Medicine Jul 2024Restless legs syndrome (RLS) is a common sleep disorder among adolescents. This study aimed to investigate the lifestyle factors and sleep disturbances associated with...
OBJECTIVE
Restless legs syndrome (RLS) is a common sleep disorder among adolescents. This study aimed to investigate the lifestyle factors and sleep disturbances associated with the symptoms suggestive of RLS in Korean adolescents.
METHODS
In this cross-sectional study, we investigated a total of 25,789 adolescents (mean age, 15.8 ± 1.7 years; male, 48.5 %). The presence of symptoms suggestive of RLS was assessed with a single question about RLS in the Global Sleep Assessment Questionnaire. We performed multiple logistic regression analysis to estimate the odds ratios (ORs) and 95 % confidence intervals (CIs) of lifestyle factors and sleep disturbances that were independently associated with adolescent RLS.
RESULTS
The prevalence of RLS-suggestive symptoms was 5.1 % among adolescents. After adjustment, lifestyle factors associated with symptoms suggestive of RLS were occasional alcohol consumption (OR, 1.245; 95 % CI, 1.006-1.540) and proneness to Internet addiction (OR, 1.027; 95 % CI, 1.021-1.033). Bedtime behaviors associated with RLS-suggestive symptoms were sleeping with a doll or pet (OR, 1.194; 95 % CI, 1.032-1.381) and sleeping with a TV or radio on (OR, 1.366; 95 % CI, 1.156-1.614). Male sex, frequent snoring and witnessed apnea, perceived sleep insufficiency, excessive daytime sleepiness were also associated with RLS-suggestive symptoms in adolescents.
CONCLUSIONS
Adolescents with symptoms suggestive of RLS were associated with different lifestyle factors compared to adults with RLS. Further research is needed to determine the clinical implications of lifestyle factors in adolescent RLS.
Topics: Humans; Restless Legs Syndrome; Male; Adolescent; Female; Republic of Korea; Cross-Sectional Studies; Life Style; Prevalence; Surveys and Questionnaires; Risk Factors; Alcohol Drinking
PubMed: 38718596
DOI: 10.1016/j.sleep.2024.05.001 -
Sleep Medicine Jul 2024Epilepsy is a common neurological disorder that significantly contributes to the worldwide disease burden. Restless legs syndrome is sleep-related movement disorder that... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Epilepsy is a common neurological disorder that significantly contributes to the worldwide disease burden. Restless legs syndrome is sleep-related movement disorder that causes uncomfortable sensations in the legs with an irresistible urge to move them. The aim of this study is to comprehensively assess the current evidence to estimate the prevalence of restless legs syndrome (RLS) in adults with epilepsy (AWE) and to compare it to healthy controls.
METHODS
PubMed, Medline, Scopus, and Web of Science databases were searched for observational studies reporting the prevalence of RLS in AWE. The modified Newcastle-Ottawa Scale (NOS) was used to evaluate the quality of the studies. Comprehensive Meta-Analysis software (version 3.0) was used to perform data analysis. The heterogeneity of the studies was assessed using the I2 index. The pooled prevalence of RLS in AWE and the odds ratio were calculated based on the random-effect model. Sensitivity analysis was assessed. A funnel plot and Egger's test were used to investigate publication bias. Subgroup analysis and univariate meta-regression analysis were done.
RESULTS
Based on the analysis of 17 studies (2262 AWE patients), the prevalence of RLS was 14.9 % (95%CI, 10.4%-21 %). This rate was highest in the Americas (35.3 %; 95 % CI: 19.7-54.9 %) and lowest in Asian countries (11.6 %). The risk of RLS was significantly higher in AWE patients compared to health controls (12 studies, OR = 2.09; 95 % CI: 1.53-2.85, I = 91.69 %, P < 0.001). subgroup analysis showed Variations in RLS rates between studies depending on quality scores, methodology, and diagnostic criteria. The funnel plot and Egger's test suggest there was publication bias. Sensitivity analysis showed that none of the studies on their own significantly affected the results.
CONCLUSIONS
This meta-analysis provides the first pooled estimate of RLS prevalence in AWE. RLS occurs in 15 out of every 100 AWE patients, and the risk is high compared to healthy controls. However, the findings need to be confirmed in future studies owing to limitations in the analysis and study design.
Topics: Adult; Humans; Epilepsy; Observational Studies as Topic; Prevalence; Restless Legs Syndrome
PubMed: 38710131
DOI: 10.1016/j.sleep.2024.05.004 -
Tremor and Other Hyperkinetic Movements... 2024In a recent survey of 16,694 people receiving treatment for Restless Legs Syndrome (RLS), approximately 25% were treated with benzodiazepines either singly or in... (Review)
Review
UNLABELLED
In a recent survey of 16,694 people receiving treatment for Restless Legs Syndrome (RLS), approximately 25% were treated with benzodiazepines either singly or in combination with other RLS treatments. Because of the large number of people receiving benzodiazepines for treatment of RLS, we conducted a historical overview of the therapeutic role of benzodiazepines in RLS and its associated condition Periodic Limb Movements in Sleep (PLMS). We found 17 articles on the use of clonazepam in RLS, PLMS, or both, 3 on triazolam and PLMS, 1 on alprazolam and RLS, 1 on temazepam and PLMS, and 1 on nitrazepam and PLMS. The order of benefit of benzodiazepines from the summarized literature is Sleep>RLS>PLMS and arousals > PLMS. Most of the studies on clonazepam employed dosages of 0.5-2.0 mg. Dosages of 3 or 4 mg caused lethargy, somnolence and confusion. An epidemiological study on the therapy of RLS suggests that treatment of RLS with most types of RLS medications including benzodiazepines in combination with other RLS therapies lowers the future cardiovascular risk associated with RLS. The major effect of benzodiazepines is through potentiation of the effect of GABA on the GABA A receptor. Neuroimaging studies suggest that GABA is altered either positively or negatively in various brain regions in RLS and genetic studies suggest that there are alterations in the GABA receptor in RLS. These results suggest that medications with different GABAergic mechanisms such as tiagabine (Gabitril) or others should be investigated in RLS for their possible therapeutic benefit.
HIGHLIGHTS
Benzodiazepines are frequently used as therapy in Restless Legs Syndrome (RLS) and Periodic Limb Movements in Sleep. The order of benefit is Sleep>RLS>PLMS and arousals > PLMS. For clonazepam dosages of 0.5 mg-2.0 mg/day are most frequently employed. Benzodiazepines exert their therapeutic effect through GABA-ergic mechanisms.
Topics: Restless Legs Syndrome; Humans; Clonazepam; Benzodiazepines; Nocturnal Myoclonus Syndrome; History, 20th Century; History, 21st Century; Adult
PubMed: 38708125
DOI: 10.5334/tohm.824 -
Sleep Medicine Jul 2024Although manual scoring has been classically considered the gold standard to identify periodic leg movements (PLM), it is a very time consuming and expensive process,...
OBJECTIVE
Although manual scoring has been classically considered the gold standard to identify periodic leg movements (PLM), it is a very time consuming and expensive process, also subject to variability in interpretation. In the last decades, different authors have observed reasonably good agreement between automated PSG scoring algorithms and manual scoring in adults, according to established criteria. We aim to compare the automatic software analysis of our polysomnogram with the manual staging in children with sleep-disordered breathing.
METHODS
We performed a semiautomatic method, in which an experienced technician watched the video recording and removed from the automatic analysis those movements that did not correspond to true candidate leg movement (LM).
RESULTS
A total of 131 PSGs were studied; applying the established criteria, 65 children were diagnosed of obstructive sleep apnea, and 66 presented snoring but with no sleep apnea. The mean age was 6.7 years (±1.7) and twenty-five children (19.08 %) had a PLMI >5/h. Statistical differences were found not only for PLMI (manual: 2.20 (0.7, 4.1) vs automatic (6.4 (3.85,9.5); p < 0.001), but for almost of all indexes assessed between the automatic and the manual scoring analysis. The level of concordance was only moderate for PLM index (0.63 [0.51-0.72]); showing that, unlike the articles published in the adult population, automatic analysis is not accurate in children and, manually or semi-automatically analysis as ours need to be done.
CONCLUSION
It seems that PLM detection algorithm might work accurately but, the real need would be a true LM detection algorithm.
Topics: Humans; Polysomnography; Child; Male; Female; Nocturnal Myoclonus Syndrome; Algorithms; Child, Preschool; Sleep Apnea, Obstructive; Video Recording; Software
PubMed: 38704870
DOI: 10.1016/j.sleep.2024.04.030 -
Parkinsonism & Related Disorders Apr 2024Anti-immunoglobulin-like cell adhesion molecule 5 (IgLON5) disease is a rare autoimmune encephalitis that can mimic progressive supranuclear palsy or corticobasal...
INTRODUCTION
Anti-immunoglobulin-like cell adhesion molecule 5 (IgLON5) disease is a rare autoimmune encephalitis that can mimic progressive supranuclear palsy or corticobasal syndrome. Moreover, anti-IgLON5 disease can present with symptoms characteristic of multiple system atrophy (MSA), such as cerebellar ataxia and autonomic dysfunction. However, the clinical features of anti-IgLON5 disease resembling MSA have not been well established.
METHODS
We enrolled 35 patients with suspected MSA for whom anti-IgLON5 antibody tests were requested. We evaluated immunoglobulin G (IgG) against IgLON5 using cell-based assays. We also summarized the clinical characteristics of patients who were positive for anti-IgLON5 antibodies.
RESULTS
We identified serum and cerebrospinal fluid anti-IgLON5 antibodies in three patients. These patients had many clinical features characteristic of MSA, including parkinsonism, cerebellar ataxia, severe orthostatic hypotension, acute respiratory failure, sleep parasomnia, vocal cord paralysis, and pyramidal tract signs. Clinical features atypical for MSA were myorhythmia, horizontal eye movement restriction, fasciculations, and painful muscle cramps.
CONCLUSION
Anti-IgLON5 disease may be an important differential diagnosis of MSA. A comprehensive physical examination, including assessments of eye movement, lower motor neuron signs, and atypical involuntary movements, is important to avoid misdiagnosis.
PubMed: 38701719
DOI: 10.1016/j.parkreldis.2024.106992 -
BMC Neurology May 2024Sleep disorders are a prevalent non-motor symptom of Parkinson's disease (PD), although reliable biological markers are presently lacking.
BACKGROUND
Sleep disorders are a prevalent non-motor symptom of Parkinson's disease (PD), although reliable biological markers are presently lacking.
OBJECTIVES
To explore the associations between sleep disorders and serum neurofilament light chain (NfL) levels in individuals with prodromal and early PD.
METHODS
The study contained 1113 participants, including 585 early PD individuals, 353 prodromal PD individuals, and 175 healthy controls (HCs). The correlations between sleep disorders (including rapid eye movement sleep behavior disorder (RBD) and excessive daytime sleepiness (EDS)) and serum NfL levels were researched using multiple linear regression models and linear mixed-effects models. We further investigated the correlations between the rates of changes in daytime sleepiness and serum NfL levels using multiple linear regression models.
RESULTS
In baseline analysis, early and prodromal PD individuals who manifested specific behaviors of RBD showed significantly higher levels of serum NfL. Specifically, early PD individuals who experienced nocturnal dream behaviors (β = 0.033; P = 0.042) and movements of arms or legs during sleep (β = 0.027; P = 0.049) showed significantly higher serum NfL levels. For prodromal PD individuals, serum NfL levels were significantly higher in individuals suffering from disturbed sleep (β = 0.038; P = 0.026). Our longitudinal findings support these baseline associations. Serum NfL levels showed an upward trend in early PD individuals who had a higher total RBDSQ score (β = 0.002; P = 0.011) or who were considered as probable RBD (β = 0.012; P = 0.009) or who exhibited behaviors on several sub-items of the RBDSQ. In addition, early PD individuals who had a high total ESS score (β = 0.001; P = 0.012) or who were regarded to have EDS (β = 0.013; P = 0.007) or who exhibited daytime sleepiness in several conditions had a trend toward higher serum NfL levels.
CONCLUSION
Sleep disorders correlate with higher serum NfL, suggesting a link to PD neuronal damage. Early identification of sleep disorders and NfL monitoring are pivotal in detecting at-risk PD patients promptly, allowing for timely intervention. Regular monitoring of NfL levels holds promise for tracking both sleep disorders and disease progression, potentially emerging as a biomarker for evaluating treatment outcomes.
Topics: Humans; Parkinson Disease; Male; Female; Neurofilament Proteins; Middle Aged; Aged; Sleep Wake Disorders; Biomarkers; REM Sleep Behavior Disorder; Prodromal Symptoms
PubMed: 38693483
DOI: 10.1186/s12883-024-03642-y