Anna Heidbreder1,2, Birgit Frauscher2, Thomas Mitterling2, Matthias Boentert1, Anja Schirmacher1, Paul Hörtnagl3, Harald Schennach3, Christina Massoth1, Svenja Happe4, Geert Mayer5, Peter Young1, Birgit Högl2. 1. Department of Sleep Medicine and Neuromuscular Disorders, University Hospital Muenster, Muenster, Germany. 2. Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria. 3. Central Institute for Blood-Transfusion and Immunology, Medical University of Innsbruck, Innsbruck, Austria. 4. Department of Neurology, Clinic Maria Frieden Telgte, Telgte, Germany and University of Göttingen, Göttingen, Germany. 5. Hephata-Klinik Schwalmstadt-Treysa, Schwalmstadt- Treysa, Germany and Philipps University Marburg, Department of Neurology, Marburg, Germany.
Abstract
STUDY OBJECTIVES: Despite the high prevalence and clinical relevance of NREM parasomnias, data on supportive genetic markers are scarce, and mainly refer to sleepwalking only. METHODS: We retrospectively analyzed clinical, polysomnographic, and HLA findings of 74 adults (37 men) with NREM parasomnia gathered from four neurological sleep centers. Parasomniac events were classified according to ICSD-2 criteria. HLA DQB1 genotyping was compared to regional-matched reference allele-frequencies. RESULTS: Fifty-six patients had more than 2 different parasomnia type: 11 sleepwalking, 4 sleep terrors, 3 confusional arousals only. Parasomniac events were documented during video-polysomnography (V-PSG) in 70% (49/70) of subjects (71.4% confusional arousals, 8.2% sleep terrors, 4.1% sleepwalking, 16.3% ≥ 2 NREM parasomnia types). Violent behavior during V-PSG occurred in 8.5% (6/71). NREM parasomnia onset was reported after the age of 30 years in 6.8% (5/74). The HLA DQB1*05:01 allele was present in 41% (29/71) compared to 24.2% in the regional-matched reference allele group (p < 0.05). This haplotype prevalence did not differ within the NREM parasomnia type. Epworth Sleepiness Score was 10 or higher in 28.6%. CONCLUSIONS: This is a large polysomnography-based case series of patients with NREM parasomnia. In patients with suspected sleepwalking or sleep terrors, polysomnography is highly useful in detecting arousals from NREM sleep as a marker of NREM parasomnia. We confirmed previous findings by demonstrating a high prevalence of the HLA DQB1*05:01 genotype for different types of NREM parasomnias. Our findings therefore support a common genetic background, and corroborate the importance of video-polysomnography in the work-up of parasomnia.
STUDY OBJECTIVES: Despite the high prevalence and clinical relevance of NREM parasomnias, data on supportive genetic markers are scarce, and mainly refer to sleepwalking only. METHODS: We retrospectively analyzed clinical, polysomnographic, and HLA findings of 74 adults (37 men) with NREM parasomnia gathered from four neurological sleep centers. Parasomniac events were classified according to ICSD-2 criteria. HLA DQB1 genotyping was compared to regional-matched reference allele-frequencies. RESULTS: Fifty-six patients had more than 2 different parasomnia type: 11 sleepwalking, 4 sleep terrors, 3 confusional arousals only. Parasomniac events were documented during video-polysomnography (V-PSG) in 70% (49/70) of subjects (71.4% confusional arousals, 8.2% sleep terrors, 4.1% sleepwalking, 16.3% ≥ 2 NREM parasomnia types). Violent behavior during V-PSG occurred in 8.5% (6/71). NREM parasomnia onset was reported after the age of 30 years in 6.8% (5/74). The HLA DQB1*05:01 allele was present in 41% (29/71) compared to 24.2% in the regional-matched reference allele group (p < 0.05). This haplotype prevalence did not differ within the NREM parasomnia type. Epworth Sleepiness Score was 10 or higher in 28.6%. CONCLUSIONS: This is a large polysomnography-based case series of patients with NREM parasomnia. In patients with suspected sleepwalking or sleep terrors, polysomnography is highly useful in detecting arousals from NREM sleep as a marker of NREM parasomnia. We confirmed previous findings by demonstrating a high prevalence of the HLA DQB1*05:01 genotype for different types of NREM parasomnias. Our findings therefore support a common genetic background, and corroborate the importance of video-polysomnography in the work-up of parasomnia.
Authors: Panagis Drakatos; Lucy Marples; Rexford Muza; Sean Higgins; Nadia Gildeh; Raluca Macavei; Eptehal M Dongol; Alexander Nesbitt; Ivana Rosenzweig; Elaine Lyons; Grainne d'Ancona; Joerg Steier; Adrian J Williams; Brian D Kent; Guy Leschziner Journal: Sleep Med Date: 2018-04-10 Impact factor: 3.492