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1.
Sleep Med Clin ; 14(3): 351-362, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31375203

RESUMO

In recent years, the diagnostic approach to rapid eye movement (REM) sleep behavior disorder (RBD) has become more objective and accurate. This was achieved mainly by introduction of methods to exactly quantify electromyographic (EMG) activity in various muscles during REM sleep. The most established muscle combination for RBD diagnosis is the mentalis and upper extremity EMG. Computer-assisted systems for this analysis have been described, and an increasing number of studies looked into analysis of video events. Recently, prodromal phases of isolated RBD have been recognized.

2.
Artigo em Inglês | MEDLINE | ID: mdl-31454761

RESUMO

OBJECTIVES: We investigated the associations with HLA and microtubule-associated protein tau (MAPT) H1 haplotype in anti-IgLON5 disease, a recently identified disorder characterized by gait instability, brainstem dysfunction, and a prominent sleep disorder in association with IgLON5 antibodies and pathologic findings of a novel neuronal-specific tauopathy. METHODS: We compared the HLA alleles and MAPT H1/H1 genotype of 35 patients with anti-IgLON5 with healthy controls. The on-line server tool NetMHCIIpan 3.1 was used to predict the IgLON5 peptide binding to HLA Class II molecules. RESULTS: The HLA-DRB1*10:01-DQB1*05:01 haplotype was overrepresented in patients with anti-IgLON5 disease (OR = 54.5; 95% CI: 22.2-133.9, p < 0.0001). In addition, HLA-DQA was genotyped in 27 patients, and 25 (92.6%) of them had DQ molecules composed by DQA1*01 and DQB1*05 chains compared with 148/542 (27.3%) controls (OR = 43.9; 95% CI: 10.4-185.5, p < 0.0001). Patients DRB1*10:01 positive developed more frequently sleep or bulbar symptoms than those carrying other HLA alleles (70.0% vs 26.7%; p = 0.011). Prediction algorithms identified 2 IgLON5 peptides (1 located in the signal sequence) that showed strong binding to HLA-DRB1*10:01 and other HLA-DRB1, but not to HLA-DQA and HLA-DQB molecules. The MAPT H1/H1 homozygous genotype was present in 20/24 (83.3%) anti-IgLON5 Caucasian patients compared with 54/116 (46.5%) healthy controls (p = 0.0007). CONCLUSIONS: The robust association of anti-IgLON5 disease with distinct HLA Class II molecules supports a primary autoimmune origin. The significant association of MAPT H1 haplotype also suggests that an underlying neurodegenerative process could be involved in anti-IgLON5 disease.

3.
Handb Clin Neurol ; 161: 381-396, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31307615

RESUMO

Rapid eye movement (REM) sleep behavior disorder (RBD), sleep paralysis, and nightmare disorder are the three REM sleep parasomnias outlined by the International Classification of Sleep Disorders. In this review we address the clinical neurophysiology of these disorders. The majority of neurophysiologic studies have been conducted in RBD, and fewer studies have evaluated patients with nightmare disorder or isolated sleep paralysis. Neurophysiologic studies of REM sleep parasomnias mostly used polysomnography (PSG), or were performed on animals to shed light on the pathophysiology of these disorders. Fewer studies used electoencephalography or electromyography outside the context of PSG, evoked potentials, or autonomic neurophysiologic studies. In this chapter, the main neurophysiologic findings in REM sleep parasomnias are described and their implications and relevance are discussed.

4.
J Sleep Res ; : e12875, 2019 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-31162763

RESUMO

Restless legs syndrome is a common neurological disorder with a clear female predominance. This study aims to evaluate gender differences in clinical, laboratory and polysomnographic features in patients with restless legs syndrome. For this retrospective analysis, 42 women and 42 men from the Innsbruck RLS database matched by age and therapy were included. Demographic data as well as different severity scales (IRLS, RLS-6 and CGI) were evaluated. Laboratory parameters included several indicators of serum iron status. In all patients, polysomnography was performed according to the AASM guidelines, and periodic leg movements during sleep were scored according to the AASM criteria. IRLS, RLS-6 and CGI revealed more severe symptoms in women (IRLS median [range]: 17.5 [0-35] versus 13.5 [0-32], p = 0.028; RLS-6 median [range]: 18 [0-39] versus 12 [1-42], p = 0.014). Women had lower serum ferritin levels than men (median [range] in µg L-1 : 74 [9-346] versus 167 [15-389], p < 0.001). Twenty-two women and eight men (53.7% versus 22.2%, p = 0.003) had ferritin values below 75 µg L-1 . Periodic leg movements during sleep indices were significantly lower in women than in men (median [range] in number per hr: 11.4 [0-62.5] versus 40 [0-154], p = 0.004, and 12.6 [0-58.5] versus 40 [0.5-208], p = 0.002, for night I and night II, respectively). Restless legs syndrome severity as measured by validated scales was worse in women, while periodic leg movements during sleep indices were higher in men. These results suggest a possible gender difference in phenotypical presentation of restless legs syndrome, manifesting with predominantly sensory symptoms in women and predominantly motor symptoms in men.

5.
Artigo em Inglês | MEDLINE | ID: mdl-31234200

RESUMO

Sleep disturbances are common in Parkinson's disease and comprise the entire spectrum of sleep disorders. On the one hand regulation of sleep and wakefulness is affected in Parkinson's disease, leading to the development of disorders, such as insomnia and daytime sleepiness. While on the other hand control of motor activity during sleep is impaired, with subsequent manifestation of parasomnias (mainly REM sleep behavior disorders, but also, albeit more rarely, sleepwalking, and overlap parasomnia). Restless legs syndrome has been reported to be frequent in patients with Parkinson's disease, although there is no consensus on whether it is more frequent in Parkinson's disease than in the general population. The same is true for sleep-related breathing disorders. Regarding the diagnosis of sleep disorders in patients with Parkinson's disease, one of the main challenges is correctly identifying excessive daytime sleepiness as there are many potential confounding factors, for example it is necessary to distinguish sleep-related breathing disorders from medication effects, and to distinguish restless legs syndrome from the concomitant presence of potential mimics specific to Parkinson's disease, such as akathisia, nocturnal leg cramps, nocturnal hypokinesia, early morning dystonia, etc. The correct diagnosis of REM sleep behavior disorder is also not always easy, and video-polysomnography should be performed in order to exclude mimic-like movements at the end of sleep apneas or violent periodic leg movements of sleep. These aspects and specific considerations about diagnosis and treatment of sleep disorders in patients with Parkinson's disease will be reviewed.

7.
Brain ; 142(3): 744-759, 2019 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-30789229

RESUMO

Idiopathic REM sleep behaviour disorder (iRBD) is a powerful early sign of Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy. This provides an unprecedented opportunity to directly observe prodromal neurodegenerative states, and potentially intervene with neuroprotective therapy. For future neuroprotective trials, it is essential to accurately estimate phenoconversion rate and identify potential predictors of phenoconversion. This study assessed the neurodegenerative disease risk and predictors of neurodegeneration in a large multicentre cohort of iRBD. We combined prospective follow-up data from 24 centres of the International RBD Study Group. At baseline, patients with polysomnographically-confirmed iRBD without parkinsonism or dementia underwent sleep, motor, cognitive, autonomic and special sensory testing. Patients were then prospectively followed, during which risk of dementia and parkinsonsim were assessed. The risk of dementia and parkinsonism was estimated with Kaplan-Meier analysis. Predictors of phenoconversion were assessed with Cox proportional hazards analysis, adjusting for age, sex, and centre. Sample size estimates for disease-modifying trials were calculated using a time-to-event analysis. Overall, 1280 patients were recruited. The average age was 66.3 ± 8.4 and 82.5% were male. Average follow-up was 4.6 years (range = 1-19 years). The overall conversion rate from iRBD to an overt neurodegenerative syndrome was 6.3% per year, with 73.5% converting after 12-year follow-up. The rate of phenoconversion was significantly increased with abnormal quantitative motor testing [hazard ratio (HR) = 3.16], objective motor examination (HR = 3.03), olfactory deficit (HR = 2.62), mild cognitive impairment (HR = 1.91-2.37), erectile dysfunction (HR = 2.13), motor symptoms (HR = 2.11), an abnormal DAT scan (HR = 1.98), colour vision abnormalities (HR = 1.69), constipation (HR = 1.67), REM atonia loss (HR = 1.54), and age (HR = 1.54). There was no significant predictive value of sex, daytime somnolence, insomnia, restless legs syndrome, sleep apnoea, urinary dysfunction, orthostatic symptoms, depression, anxiety, or hyperechogenicity on substantia nigra ultrasound. Among predictive markers, only cognitive variables were different at baseline between those converting to primary dementia versus parkinsonism. Sample size estimates for definitive neuroprotective trials ranged from 142 to 366 patients per arm. This large multicentre study documents the high phenoconversion rate from iRBD to an overt neurodegenerative syndrome. Our findings provide estimates of the relative predictive value of prodromal markers, which can be used to stratify patients for neuroprotective trials.

10.
Sleep ; 42(3)2019 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-30551198

RESUMO

STUDY OBJECTIVES: Periodic limb movements in sleep (PLMS) are frequent motor phenomena; however, population-based data are scarce. We assessed the prevalence of PLMS and factors associated with PLMS within two German population-based cohorts, the SHIP-TREND and BiDirect. METHODS: Single-night polysomnography was performed on 1107 subjects recruited from the general population (mean age: 52.9 years, 54.1% men) in the SHIP-TREND and on 247 participants (mean age: 57.6 years, 50.6% men) in the BiDirect. PLMS were evaluated using the standard criteria of the American Academy of Sleep Medicine. Sociodemographic data, behavioral variables, medical history, current medication, and other sleep disorders were assessed. RESULTS: The prevalence of PLMS index (PLMSI) >15/hour was 32.4% (SHIP-TREND) and 36.4% (BiDirect). In multivariable models, age (odds ratio [OR] = 1.05 per +1 year), male gender (OR = 2.20), restless legs syndrome (OR = 2.32), physical inactivity (OR = 1.52), current smoking (OR = 1.49), diabetes (OR = 2.13), antidepressant use (OR = 2.27), lower serum magnesium (OR per -0.1 mmol/L = 1.27) showed a positive, and the intake of beta-blockers an inverse association with PLMSI >15/hour in SHIP-TREND. In BiDirect, age (OR = 1.13 per +1 year), body mass index (OR = 1.11 per +1 kg/m2), and restless legs syndrome (OR = 8.77) were significantly associated with PLMSI >15/hour. CONCLUSIONS: A high PLMSI is frequent in the German population. Age, male gender, restless legs syndrome, physical inactivity, current smoking, obesity, diabetes, antidepressant use, and lower magnesium were independently associated with PLMSI >15/hour in at least one of the cohorts.

11.
Sleep Med ; 54: 94-100, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30529783

RESUMO

INTRODUCTION: The International Restless Legs Study Group (IRLSSG) has developed the IRLS (International Restless Legs Syndrome Severity Scale) and validated it as a clinician/researcher administered scale to be used when both patient and examiner are present. The IRLSSG recognized the need for a self-completing scale that can be used economically in clinical practice and in large population-based studies. In this study the validity and the reliability of the IRLS as a self-administered scale (sIRLS) is assessed. METHODS: Established RLS patients were recruited by eight centers in four countries and consented to participate in this study. The validity of the sIRLS was assessed by patients completing the sIRLS before a clinician administered the IRLS. The reliability of the sIRLS was assessed by patients completing the sIRLS again, two weeks after the first one, provided no change had occurred. RESULTS: Overall, 173 patients were recruited and 164 of them were included in the analyses. The sIRLS showed satisfactory scaling assumptions and no relevant floor or ceiling effect. One factor explained 61.3% of the variance. Cronbach's alpha was 0.93 and the item homogeneity index was 0.59. Intraclass correlation coefficient between the sIRLS and the IRLS was 0.94. The sIRLS standard error of measurement was 3.61 (½ SD at baseline = 4.11). The results mostly overlapped those of the IRLS analyzed in parallel. DISCUSSION: The sIRLS is a reliable, valid and precise instrument that showed tight association with the IRLS. These findings support the use of the sIRLS for self-evaluation of RLS severity. The responses obtained on the sIRLS and the IRLS scale varied slightly. Therefore, we recommend that either the sIRLS or the IRLS scale be used as the only scale for serial measures over time.

13.
Nat Commun ; 9(1): 5229, 2018 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-30523329

RESUMO

Analysis of sleep for the diagnosis of sleep disorders such as Type-1 Narcolepsy (T1N) currently requires visual inspection of polysomnography records by trained scoring technicians. Here, we used neural networks in approximately 3,000 normal and abnormal sleep recordings to automate sleep stage scoring, producing a hypnodensity graph-a probability distribution conveying more information than classical hypnograms. Accuracy of sleep stage scoring was validated in 70 subjects assessed by six scorers. The best model performed better than any individual scorer (87% versus consensus). It also reliably scores sleep down to 5 s instead of 30 s scoring epochs. A T1N marker based on unusual sleep stage overlaps achieved a specificity of 96% and a sensitivity of 91%, validated in independent datasets. Addition of HLA-DQB1*06:02 typing increased specificity to 99%. Our method can reduce time spent in sleep clinics and automates T1N diagnosis. It also opens the possibility of diagnosing T1N using home sleep studies.

14.
Mov Disord ; 2018 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-30311259

RESUMO

BACKGROUND: Restless legs syndrome is a sensorimotor neurological disorder of the limbs that impairs quality of life and disturbs sleep. However, there has been progress in understanding the disease involving the dopaminergic system as well as iron metabolism. The exact pathophysiological mechanisms of restless legs syndrome remain elusive. We tried to elucidate the underlying mechanisms in iron metabolism in restless legs syndrome subjects on a systemic, cellular, and mitochondrial level. METHODS: We conducted a study prospectively recruiting 168 restless legs syndrome patients and 119 age-matched healthy controls focusing on iron metabolism using human monocytes as surrogates. RESULTS: Evaluation of systemic iron metabolism parameters in the circulation showed no significant difference between patients and controls. We observed a significant reduction in mRNA levels of heme oxygenase 1 and mitochondrial iron genes like mitoferrin 1 and 2 in monocytes isolated from restless legs syndrome patients, indicating mitochondrial iron deficiency. Interestingly, we also observed reduced expression of iron regulatory protein 2 along with impaired activity of mitochondrial aconitase and reduced mitochondrial superoxide formation in restless legs syndrome subjects. Along this line, patients had reduced mitochondrial respiratory capacity that improved in restless legs syndrome subjects under treatment with dopaminergic drugs compared with untreated patients. CONCLUSIONS: Our data suggest that restless legs syndrome is linked to mitochondrial iron deficiency and associated impairment of mitochondrial function. This is partly corrected by treatment with dopaminergic drugs compared with untreated patients, which may be linked to an effect of dopamine on cellular iron homeostasis.

15.
Lancet Neurol ; 17(11): 994-1005, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30244828

RESUMO

Restless legs syndrome, also known as Willis-Ekbom disease, is a common neurological condition whose manifestation is affected by complex environmental and genetic interactions. Restless legs syndrome can occur on its own, mostly at a young age, or with comorbidities such as cardiovascular disease, diabetes, and arterial hypertension, making it a difficult condition to properly diagnose. However, the concept of restless legs syndrome as being two entities, primary or secondary to another condition, has been challenged with genetic data providing further insight into the pathophysiology of the condition. Although dopaminergic treatment was formerly the first-line therapy, prolonged use can result in a serious worsening of symptoms known as augmentation. Clinical studies on pregabalin, gabapentin enacarbil, oxycodone-naloxone, and iron preparations have provided new treatment options, but most patients still report inadequate long-term management of symptoms. Studies of the hypoxic pathway activation and iron deficiency have provided valuable information about the pathophysiology of restless legs syndrome that should now be translated into new, more effective treatments for restless legs syndrome.

16.
Sci Rep ; 8(1): 10628, 2018 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-30006563

RESUMO

Narcolepsy is a rare life-long disease that exists in two forms, narcolepsy type-1 (NT1) or type-2 (NT2), but only NT1 is accepted as clearly defined entity. Both types of narcolepsies belong to the group of central hypersomnias (CH), a spectrum of poorly defined diseases with excessive daytime sleepiness as a core feature. Due to the considerable overlap of symptoms and the rarity of the diseases, it is difficult to identify distinct phenotypes of CH. Machine learning (ML) can help to identify phenotypes as it learns to recognize clinical features invisible for humans. Here we apply ML to data from the huge European Narcolepsy Network (EU-NN) that contains hundreds of mixed features of narcolepsy making it difficult to analyze with classical statistics. Stochastic gradient boosting, a supervised learning model with built-in feature selection, results in high performances in testing set. While cataplexy features are recognized as the most influential predictors, machine find additional features, e.g. mean rapid-eye-movement sleep latency of multiple sleep latency test contributes to classify NT1 and NT2 as confirmed by classical statistical analysis. Our results suggest ML can identify features of CH on machine scale from complex databases, thus providing 'ideas' and promising candidates for future diagnostic classifications.

17.
Mov Disord ; 33(7): 1042-1055, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29756278

RESUMO

Patients with sleep-related motor and behavioral disorders present to a variety of subspecialty clinics (neurology, sleep medicine, respiratory medicine, psychiatry). Diagnosing these disorders can be difficult, and sometimes they have a significant impact on quality of life. Alongside a number of common and well-recognized conditions, several new disease entities have been described in recent years that present with abnormal nocturnal motor phenomena (such as ADCY5-associated disease and anti-IgLON5 disease). Our understanding of the neural basis and prognostic significance of other sleep-related disorders has also grown, particularly rapid eye movement sleep behavior disorder. This review (along with a collection of previously unpublished videos) is intended to aid in the recognition and treatment of these patients. The recent change in terminology from nocturnal frontal lobe epilepsy to sleep-related hypermotor epilepsy is also discussed. © 2018 International Parkinson and Movement Disorder Society.

18.
Mov Disord ; 33(7): 1077-1091, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29756335

RESUMO

The objective of the current review was to update the previous evidence-based medicine review of treatments for restless legs syndrome published in 2008. All randomized, controlled trials (level I) with a high quality score published between January 2007 and January 2017 were reviewed. Forty new studies qualified for efficacy review. Pregabalin, gabapentin enacarbil, and oxycodone/naloxone, which did not appear in the previous review, have accrued data to be considered efficacious. Likewise, new data enable the modification of the level of efficacy for rotigotine from likely efficacious to efficacious. Intravenous ferric carboxymaltose and pneumatic compression devices are considered likely efficacious in idiopathic restless legs syndrome. Bupropion and clonidine were reviewed, but the lack of data determined a rating of insufficient evidence for efficacy. The following interventions continue to be considered efficacious as in 2008: levodopa, ropinirole, pramipexole, cabergoline, pergolide, and gabapentin. Bromocriptine, oxycodone, carbamazepine, and valproic acid are considered likely efficacious. Oral iron is nonefficacious in iron-sufficient subjects, but its benefit for patients with low peripheral iron status has not been adequately evaluated. Restless legs syndrome augmentation has been identified as a significant long-term treatment complication for pramipexole more than pregabalin and possibly for all dopaminergic agents more than α2δ ligands. Therefore, special monitoring for augmentation is required for all dopaminergic medications as well as tramadol. Other drugs also require special safety monitoring: cabergoline, pergolide, oxycodone, methadone, tramadol, carbamazepine, and valproic acid. Finally, we also highlighted gaps and needs for future clinical research and studies of restless legs syndrome. © 2018 International Parkinson and Movement Disorder Society.

19.
Mov Disord ; 33(6): 1016-1020, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29756641

RESUMO

BACKGROUND: MAPT haplotypes are associated with PD, but their association with rapid eye movement sleep behavior disorder is unclear. OBJECTIVE: To study the role of MAPT variants in rapid eye movement sleep behavior disorder. METHODS: Two cohorts were included: (A) PD (n = 600), rapid eye movement sleep behavior disorder (n = 613) patients, and controls (n = 981); (B) dementia with Lewy bodies patients with rapid eye movement sleep behavior disorder (n = 271) and controls (n = 950). MAPT-associated variants and the entire coding sequence of MAPT were analyzed. Age-, sex-, and ethnicity-adjusted analyses were performed to examine the association between MAPT, PD, and rapid eye movement sleep behavior disorder. RESULTS: MAPT-H2 variants were associated with PD (odds ratios: 0.62-0.65; P = 0.010-0.019), but not with rapid eye movement sleep behavior disorder. In PD, the H1 haplotype odds ratio was 1.60 (95% confidence interval: 1.12-2.28; P = 0.009), and the H2 odds ratio was 0.68 (95% confidence interval: 0.48-0.96; P = 0.03). The H2/H1 haplotypes were not associated with rapid eye movement sleep behavior disorder. CONCLUSIONS: Our results confirm the protective effect of the MAPT-H2 haplotype in PD, and define its components. Furthermore, our results suggest that MAPT does not play a major role in rapid eye movement sleep behavior disorder, emphasizing different genetic background than in PD in this locus. © 2018 International Parkinson and Movement Disorder Society.

20.
PLoS One ; 13(4): e0195573, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29624601

RESUMO

BACKGROUND: Sleep disordered breathing is a common but often undiagnosed comorbidity in heart failure patients. Cardiac implantable electronic devices used for cardiac resynchronization therapy (CRT) may detect sleep apnea by use of a transthoracic impedance sensor. Validation of the AP scan® algorithm (Boston Scientific®) was performed by using the diagnostic gold standard polysomnography (PSG). METHODS: Forty-one patients with impaired left ventricular ejection fraction, frequent right ventricular pacing due to atrioventricular block and heart failure symptoms despite optimal medical therapy underwent upgrading to biventricular pacing. Within one month after left ventricular lead implantation, sleep apnea was assessed by single-night PSG and AP scan® measurements. RESULTS: AP scan® measurements were valid in only 21 of 41 (51.2%) patients in the index night of the PSG. The PSG determined apnea-hypopnea index did not correlate statistically significant with the AP scan® measurements (r = 0.41, 95% confidence interval -0.05-0.72, p = 0.07). The degree of overestimation is displayed by using the Bland-Altman method: mean difference -12.4, standard deviation ± 15.8, 95% confidence interval -43.3-18.6. CONCLUSIONS: In heart failure patients receiving CRT upgrading, the AP scan® algorithm may need further improvement before it can be recommended for sleep apnea detection.


Assuntos
Dispositivos de Terapia de Ressincronização Cardíaca , Insuficiência Cardíaca/complicações , Polissonografia , Síndromes da Apneia do Sono/complicações , Síndromes da Apneia do Sono/diagnóstico , Idoso , Algoritmos , Terapia de Ressincronização Cardíaca , Dispositivos de Terapia de Ressincronização Cardíaca/estatística & dados numéricos , Cardiografia de Impedância , Estudos Cross-Over , Método Duplo-Cego , Feminino , Insuficiência Cardíaca/terapia , Humanos , Masculino , Polissonografia/estatística & dados numéricos , Disfunção Ventricular Esquerda/complicações , Disfunção Ventricular Esquerda/terapia
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