Study Objectives
Rapid eye movement (REM) sleep without atonia (RWA) is the main polysomnographic feature of idiopathic REM sleep behavior disorder (iRBD) and is considered to be a promising biomarker predicting conversion to manifested synucleinopathy. Besides conventionally evaluated tonic, phasic and any RWA, we took into consideration also periods, when phasic and tonic RWA appeared simultaneously and we called this activity “mixed RWA.” The study aimed to evaluate different types of RWA, to reveal the most relevant biomarker to the conversion.
Methods
A total of 55 patients with confirmed iRBD were recruited with mean follow-up duration 2.3 ± 0.7 years. Scoring of RWA was based on Sleep Innsbruck Barcelona rules. Positive phenocoversion was ascertained according to standard diagnostic criteria during follow-up. Receiver operator characteristic analysis was applied to evaluate predictive performance of different RWA types.
Results
A total of nine patients (16%) developed neurodegenerative diseases. Yearly phenoconversion rate was 5.5%. Significantly higher amounts of mixed (p = 0.009), tonic (p = 0.020), and any RWA (p = 0.049) were found in converters. Optimal cutoffs differentiating the prediction were 16.4% (sensitivity 88.9; specificity 69.6) for tonic, 4.4% (sensitivity 88.9; specificity 60.9) for mixed, and 36.8% (sensitivity 77.8; specificity 65.2) for any RWA. With area under the curve (AUC) 0.778, mixed RWA has proven to be the best predictive test followed by tonic (AUC 0.749) and any (AUC 0.710).
Conclusions
Mixed, tonic and any RWA may serve as biomarkers predicting the conversion into neurodegenerative disease in iRBD. The best predictive value lies within mixed RWA, thus it should be considered as standard biomarker.
Narcolepsy-cataplexy (N-C) is a focal neurodegenerative disease with a genetic predisposition and autoimmune etiology; the pathogenesis of narcolepsy without cataplexy (Nw/oC) is less clear. One hundred and forty eight patients underwent clinical face-to face interviews, polysomnography, multiple sleep latency testing and HLA-DQB1*0602 typing. The cohort was divided into four age groups: children and adolescents under 19 years (N = 31), adults aged 20-39 years (N = 51), 40-59 years (N = 28) and over 60 years (N = 38). N-C was found in 93 adults (79.5 %) compared with 16 pediatric patients (51.6 %) (p < 0.01), suggesting that at least some of the children were candidates for developing cataplexy in the future. Statistical evaluation showed an increasing age-related proportion of associated sleep disorders-obstructive sleep apnea, periodic leg movements and restless leg syndrome (p < 0.001). Nw/oC patients showed sleep comorbidities less frequently than N-C group. A close connection with N-C was found particularly in REM behavior disorder (RBD) (p < 0.05). RBD affected a third of the patients in the youngest as well as in the oldest groups. However, association with other sleep disorders had no significant effect on nocturnal sleep (with the exception of obstructive sleep apnea), and the sleep comorbidities under study had no noticeable effect on daytime sleepiness.
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