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1. Speech Biomarkers in Rapid Eye Movement Sleep Behavior Disorder and Parkinson Disease

Author

Jacques Montplaisir, Paul C. Timm, Erik K. St. Louis, Evi Holzknecht, Petr Dusek, Klaus Seppi, Evžen Růžička, Luke N. Teigen, Tereza Tykalová, Sara Marelli, Ronald B. Postuma, Andrea Galbiati, Karel Sonka, Michal Novotný, Amélie Pelletier, Mahboubeh Habibi, Yves Dauvilliers, Annette Janzen, Wolfgang H. Oertel, Jan Rusz, Luigi Ferini-Strambi, Jan Hlavnička, Birgit Högl, Ambra Stefani, Jean Gagnon, Elisa Evangelista, Anna Laura Rassu, Rusz, Jan, Hlavnička, Jan, Novotný, Michal, Tykalová, Tereza, Pelletier, Amelie, Montplaisir, Jacque, Gagnon, Jean-Francoi, Dušek, Petr, Galbiati, Andrea, Marelli, Sara, Timm, Paul C, Teigen, Luke N, Janzen, Annette, Habibi, Mahboubeh, Stefani, Ambra, Holzknecht, Evi, Seppi, Klau, Evangelista, Elisa, Rassu, Anna Laura, Dauvilliers, Yve, Högl, Birgit, Oertel, Wolfgang, St Louis, Erik K, Ferini-Strambi, Luigi, Růžička, Evžen, Postuma, Ronald B, Šonka, Karel, Czech Technical University in Prague (CTU), First Faculty of Medicine Charles University [Prague], Hôpital du Sacré-Coeur de Montréal, McGill University Health Center [Montreal] (MUHC), Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University [Milan, Italie] (UniSR), Mayo Clinic [Rochester], Philipps Universität Marburg = Philipps University of Marburg, Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), and Retiveau, Nolwenn

Subjects
0301 basic medicine, Male, Disease, REM Sleep Behavior Disorder, Audiology, Behavior disorder, Dysarthria, MESH: Aged, 80 and over, 0302 clinical medicine, Research Articles, MESH: Aged, Aged, 80 and over, MESH: Middle Aged, MESH: Speech, Parkinsonism, Parkinson Disease, Middle Aged, Europe, Neurology, Disease Progression, Biomarker (medicine), MESH: Disease Progression, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, medicine.symptom, Research Article, medicine.medical_specialty, Rapid eye movement sleep, Prodromal Symptoms, REM sleep behavior disorder, 03 medical and health sciences, medicine, Humans, Speech, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], MESH: Prodromal Symptoms, Aged, MESH: Humans, business.industry, Disease progression, medicine.disease, MESH: Male, 030104 developmental biology, MESH: REM Sleep Behavior Disorder, MESH: Biomarkers, MESH: Europe, Neurology (clinical), business, MESH: Female, MESH: Parkinson Disease, 030217 neurology & neurosurgery, Biomarkers
Abstract

International audience; Objective: This multilanguage study used simple speech recording and high-end pattern analysis to provide sensitive and reliable noninvasive biomarkers of prodromal versus manifest α-synucleinopathy in patients with idiopathic rapid eye movement sleep behavior disorder (iRBD) and early-stage Parkinson disease (PD).Methods: We performed a multicenter study across the Czech, English, German, French, and Italian languages at 7 centers in Europe and North America. A total of 448 participants (337 males), including 150 with iRBD (mean duration of iRBD across language groups 0.5-3.4 years), 149 with PD (mean duration of disease across language groups 1.7-2.5 years), and 149 healthy controls were recorded; 350 of the participants completed the 12-month follow-up. We developed a fully automated acoustic quantitative assessment approach for the 7 distinctive patterns of hypokinetic dysarthria.Results: No differences in language that impacted clinical parkinsonian phenotypes were found. Compared with the controls, we found significant abnormalities of an overall acoustic speech severity measure via composite dysarthria index for both iRBD (p = 0.002) and PD (p < 0.001). However, only PD (p < 0.001) was perceptually distinct in a blinded subjective analysis. We found significant group differences between PD and controls for monopitch (p < 0.001), prolonged pauses (p < 0.001), and imprecise consonants (p = 0.03); only monopitch was able to differentiate iRBD patients from controls (p = 0.004). At the 12-month follow-up, a slight progression of overall acoustic speech impairment was noted for the iRBD (p = 0.04) and PD (p = 0.03) groups.Interpretation: Automated speech analysis might provide a useful additional biomarker of parkinsonism for the assessment of disease progression and therapeutic interventions. ANN NEUROL 2021;90:62-75.

Published
2021
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2. LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder

Author

Peter Young, Birgit Högl, Wolfgang H. Oertel, Michele T.M. Hu, Giuseppe Plazzi, Valérie Cochen De Cock, Dan Spiegelman, Yves Dauvilliers, Elena Antelmi, Jacques Montplaisir, Ambra Stefani, Friederike Sixel-Döring, Jennifer A. Ruskey, Christelle Charley Monaca, Brit Mollenhauer, Ziv Gan-Or, Isabelle Arnulf, Guy A. Rouleau, Ronald B. Postuma, Bouchra Ouled Amar Bencheikh, Claudia Trenkwalder, Luigi Ferini-Strambi, Jean-François Gagnon, Anna Heidbreder, Ouled Amar Bencheikh, Bouchra, Ruskey, Jennifer A., Arnulf, Isabelle, Dauvilliers, Yve, Monaca, Christelle Charley, De Cock, Valérie Cochen, Gagnon, Jean-Françoi, Spiegelman, Dan, Hu, Michele T.M., Högl, Birgit, Stefani, Ambra, Ferini-Strambi, Luigi, Plazzi, Giuseppe, Antelmi, Elena, Young, Peter, Heidbreder, Anna, Mollenhauer, Brit, Sixel-Döring, Friederike, Trenkwalder, Claudia, Oertel, Wolfgang, Montplaisir, Jacques Y., Postuma, Ronald B., Rouleau, Guy A., Gan-Or, Ziv, Ouled Amar Bencheikh, B., Ruskey, J. A., Arnulf, I., Dauvilliers, Y., Monaca, C. C., De Cock, V. C., Gagnon, J. -F., Spiegelman, D., M. T. M., Hu, Hogl, B., Stefani, A., Ferini-Strambi, L., Plazzi, G., Antelmi, E., Young, P., Heidbreder, A., Mollenhauer, B., Sixel-Doring, F., Trenkwalder, C., Oertel, W., Montplaisir, J. Y., Postuma, R. B., Rouleau, G. A., Gan-Or, Z., Service des Pathologies du sommeil [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurophysiologie clinique (CHRU Lille), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Euromov (EuroMov), Université de Montpellier (UM), and Clinique Beau Soleil [Montpellier]

Subjects
Male, 0301 basic medicine, REM sleep behavior disorder, Disease, Biology, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Genetic, Genetics, medicine, LRRK2, Parkinson disease, Neurology, Geriatrics and Gerontology, Neurology (clinical), Humans, Coding region, Dementia, Aged, Synucleinopathies, Haplotype, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Middle Aged, Protective Factors, medicine.disease, 3. Good health, 030104 developmental biology, Haplotypes, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
Abstract

Background: Individuals with rapid eye movement (REM)-sleep behavior disorder (RBD) are likely to progress to synucleinopathies, mainly Parkinson's disease (PD), dementia with Lewy-bodies (DLB) and multiple system atrophy (MSA). The genetics of RBD only partially overlaps with PD and DLB, and the role of LRRK2 variants in risk for RBD is still not clear.Methods: The full coding sequence, exon-intron boundaries and 5′ and 3′ untranslated regions of LRRK2 were sequenced using targeted next-generation sequencing. A total of 350 RBD patients and 869 controls were sequenced, and regression and burden models were used to examine the association between LRRK2 variants and RBD.Results: No pathogenic mutations that are known to cause PD were identified in RBD patients. The p.N551K-p.R1398H-p.K1423K haplotype was associated with a reduced risk for RBD (OR = 0.66, 95% CI 0.44–0.98, p = 0.0055 for the tagging p.N551K substitution). A common variant, p.S1647T, was nominally associated with risk for RBD (OR = 1.28, 95% CI 1.05–1.56, p = 0.029). Burden analysis identified associations with domains and exons that were derived by the variants of the protective haplotype, and no burden of other rare variants was identified.Conclusions: Carriers of the LRRK2 p.N551K-p.R1398H-p.K1423K haplotype have a reduced risk for developing RBD, yet PD-causing mutations probably have minor or no role in RBD. Additional work is needed to confirm these results and to identify the mechanism associated with reduced risk for RBD.

Published
2018
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3. Neural network analysis of sleep stages enables efficient diagnosis of narcolepsy

Author

Oscar Carrillo, Fang Han, Samuel T. Kuna, Aditya Ambati, Poul Jennum, Ambra Stefani, Sabine Scholz, Birgit Högl, Fabio Pizza, Helge Bjarup Dissing Sørensen, Jens B. Stephansen, Eileen B. Leary, Lucie Barateau, Paul E. Peppard, Ling Lin, Dimitri Perrin, Mads Olsen, Tae-Won Kim, Emmanuel Mignot, Paula K. Schweitzer, Stefano Vandi, Seung Chul Hong, Giuseppe Plazzi, Yves Dauvilliers, Elena Antelmi, Alexander Neergaard Olesen, Clete A. Kushida, Han Yan, Yun L. Sun, Hyatt Moore, Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Stephansen, Jens B., Olesen, Alexander N., Olsen, Mad, Ambati, Aditya, Leary, Eileen B., Moore, Hyatt E., Carrillo, Oscar, Lin, Ling, Han, Fang, Yan, Han, Sun, Yun L., Dauvilliers, Yve, Scholz, Sabine, Barateau, Lucie, Hogl, Birgit, Stefani, Ambra, Hong, Seung Chul, Kim, Tae Won, Pizza, Fabio, Plazzi, Giuseppe, Vandi, Stefano, Antelmi, Elena, Perrin, Dimitri, Kuna, Samuel T., Schweitzer, Paula K., Kushida, Clete, Peppard, Paul E., Sorensen, Helge B. D., Jennum, Poul, and Mignot, Emmanuel

Subjects
Genetics and Molecular Biology (all), Male, Computer science, General Physics and Astronomy, Polysomnography, Audiology, Biochemistry, Cohort Studies, 0302 clinical medicine, HLA-DQ beta-Chains, lcsh:Science, HLA-DQ beta-Chains/analysis, Sleep Stages, Narcolepsy/diagnosis, Multidisciplinary, Artificial neural network, medicine.diagnostic_test, Chemistry (all), Middle Aged, 3. Good health, Algorithm, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Sleep (system call), Algorithms, Human, Adult, medicine.medical_specialty, Adolescent, Neural Networks, Science, Sleep Stage, Sensitivity and Specificity, Article, General Biochemistry, Genetics and Molecular Biology, Physics and Astronomy (all), Young Adult, Computer, 03 medical and health sciences, medicine, Humans, Aged, Narcolepsy, HLA-DQ beta-Chain, Biochemistry, Genetics and Molecular Biology (all), General Chemistry, Neural Networks (Computer), medicine.disease, Sleep Stages/immunology, 030228 respiratory system, lcsh:Q, Neural Networks, Computer, Cohort Studie, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
Abstract

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., The diagnosis of sleep disorders such as narcolepsy and insomnia currently requires experts to interpret sleep recordings (polysomnography). Here, the authors introduce a neural network analysis method for polysomnography that could reduce time spent in sleep clinics and automate narcolepsy diagnosis.

Published
2018
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4. Exploring the clinical features of narcolepsy type 1 versus narcolepsy type 2 from European Narcolepsy Network database with machine learning

Author

Aleksandra Wierzbicka, Fabio Pizza, Francesca Canellas, António Martins da Silva, Rosa Peraita-Adrados, Ramin Khatami, Teresa Paiva, Laura Lillo-Triguero, Peter Young, Mauro Manconi, Joan Santamaria, Carles Gaig, Birgit Högl, Yves Dauvilliers, Elena Antelmi, Lucie Barateau, Alex Iranzo, Gianina Luca, Markku Partinen, Michel Lecendreux, Johannes Mathis, Geert Mayer, Carole Pesenti, Raphael Heinzer, Zhongxing Zhang, Pablo Medrano-Martínez, Claudio L. Bassetti, Giuseppe Plazzi, Christian R. Baumann, Gert Jan Lammers, Eva Feketeova, Karel Sonka, José Haba-Rubio, Rafael del Rio-Villegas, Corina Gorban, Sebastiaan Overeem, Rolf Fronczek, Signal Processing Systems, Biomedical Diagnostics Lab, Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University of Bologna, Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Zhang, Zhongxing, Mayer, Geert, Dauvilliers, Yve, Plazzi, Giuseppe, Pizza, Fabio, Fronczek, Rolf, Santamaria, Joan, Partinen, Markku, Overeem, Sebastiaan, Peraita-Adrados, Rosa, Da Silva, Antonio Martin, Sonka, Karel, Rio-Villegas, Rafael Del, Heinzer, Raphael, Wierzbicka, Aleksandra, Young, Peter, Högl, Birgit, Bassetti, Claudio L., Manconi, Mauro, Feketeova, Eva, Mathis, Johanne, Paiva, Teresa, Canellas, Francesca, Lecendreux, Michel, Baumann, Christian R., Barateau, Lucie, Pesenti, Carole, Antelmi, Elena, Gaig, Carle, Iranzo, Alex, Lillo-Triguero, Laura, Medrano-Martínez, Pablo, Haba-Rubio, José, Gorban, Corina, Luca, Gianina, Lammers, Gert Jan, and Khatami, Ramin

Subjects
Multiple Sleep Latency Test, Male, sueño, Data Interpretation, Cataplexy, Databases, Factual, Computer science, [SDV]Life Sciences [q-bio], humanos, lcsh:Medicine, Excessive daytime sleepiness, Datasets as Topic, narcolepsia, Polysomnography, computer.software_genre, polisomnografía, 0302 clinical medicine, Feature (machine learning), lcsh:Science, narcolepsy, machine learning, Multidisciplinary, medicine.diagnostic_test, Sleep disorders, adulto, Statistical, Sleep Latency, 3. Good health, adulto joven, Data Interpretation, Statistical, Female, Supervised Machine Learning, medicine.symptom, enfermedades raras, Adult, Sleep, REM, 610 Medicine & health, Machine learning, Models, Biological, Article, 03 medical and health sciences, Databases, Young Adult, Rare Diseases, curva ROC, procesos estocásticos, medicine, Humans, Factual, Narcolepsy, Stochastic Processes, business.industry, lcsh:R, Supervised learning, medicine.disease, narcolepsy, machine learning, 030228 respiratory system, ROC Curve, lcsh:Q, Artificial intelligence, Sleep, business, computer, 030217 neurology & neurosurgery
Abstract

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 rapideye-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., The EU-NN database is financed by the EU-NN. The EU-NN has received financial support from UCB Pharma Brussels for developing the EU-NN database.

Published
2018
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5. Treatment of paediatric narcolepsy with sodium oxybate: a double-blind, placebo-controlled, randomised-withdrawal multicentre study and open-label investigation

Author

Michel Lecendreux, Rupa Parvataneni, Yves Dauvilliers, Emmanuel Mignot, Giuseppe Plazzi, Diane Guinta, Chad Ruoff, Youyu Grace Wang, Carol L. Rosen, Jed Black, AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Plazzi, Giuseppe, Ruoff, Chad, Lecendreux, Michel, Dauvilliers, Yve, Rosen, Carol L, Black, Jed, Parvataneni, Rupa, Guinta, Diane, Wang, Youyu Grace, and Mignot, Emmanuel

Subjects
Male, Pediatrics, medicine.medical_specialty, Adolescent, Cataplexy, Sodium Oxybate, Population, Perinatology and Child Health, Developmental and Educational Psychology, Excessive daytime sleepiness, Placebo, law.invention, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, Randomized controlled trial, law, medicine, Humans, Prospective Studies, 030212 general & internal medicine, Child, education, Narcolepsy, education.field_of_study, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, business.industry, medicine.disease, Interim analysis, 3. Good health, Treatment Outcome, Withholding Treatment, Pediatrics, Perinatology and Child Health, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

International audience; BACKGROUND:Narcolepsy is a lifelong neurological disorder with onset commonly in childhood or adolescence. No drugs are indicated for cataplexy and excessive daytime sleepiness in paediatric patients with narcolepsy. Sodium oxybate is approved for use in adult patients with excessive daytime sleepiness or cataplexy, or both, in narcolepsy. We aimed to examine the safety and efficacy of sodium oxybate oral solution treatment in children and adolescents who have narcolepsy with cataplexy.METHODS:This was a prospective, double-blind, placebo-controlled, randomised-withdrawal, multisite study and open-label investigation done at 30 sites in five countries (USA, Finland, France, Italy, and the Netherlands). Eligible participants were aged 7-16 years at screening, had narcolepsy with cataplexy, and were either being treated with sodium oxybate or were sodium oxybate-naive at entry. Sodium oxybate-naive participants were titrated to an optimal dose. Participants were randomly assigned (1:1) with a dynamic randomisation algorithm to receive placebo or to remain on sodium oxybate for 2 weeks; they then entered an open-label sodium oxybate treatment period for a total study duration of up to 1 year. Random assignment to placebo was discontinued if early efficacy was shown in the preplanned interim analysis of the primary efficacy endpoint, which was change in weekly number of cataplexy attacks. Participants entering the study after the interim analysis would then be assigned to receive open-label sodium oxybate for 2 weeks. The primary analysis of efficacy and safety included data collected until the cutoff date of Feb 10, 2017. The efficacy population consisted of all participants randomly assigned to receive an intervention who completed at least 5 days of dosing in the double-blind treatment period, and the safety population consisted of all participants who took the study drug, including open-label sodium oxybate. This study is registered with ClinicalTrials.gov, number NCT02221869.FINDINGS:Between Oct 1, 2014, and Feb 10, 2017, we enrolled 106 participants, and 104 took the study drug (the safety population). 96 (92%) of these participants completed the stable-dose period, of whom 63 participants (the efficacy population) were randomly assigned to receive sodium oxybate (n=31) or placebo (n=32) for 2 weeks. A preplanned interim analysis of the primary endpoint showed efficacy (p=0·0002), resulting in discontinuation of the placebo arm following guidance from the data safety monitoring board; 33 participants then received sodium oxybate on an open-label basis during the double-blind period. Participants who were randomly assigned to receive placebo and who were withdrawn from sodium oxybate (32 [51%] of 63 patients) had increased weekly cataplexy attacks (median increase of 12·7 attacks per week [Q1, Q3=3·4, 19·8]) when compared with those randomly assigned to continue treatment with sodium oxybate (median increase of 0·3 attacks per week [-1·0, 2·5]; p5%) adverse events were enuresis (15 [21%] of 72 sodium oxybate-naive participants vs four [13%] of 32 participants taking sodium oxybate at study entry), nausea (16 [22%] vs two [6%]), vomiting (15 [21%] vs two [6%]), headache (13 [18%] vs four [13%]), decreased weight (11 [15%] vs one [3%]), decreased appetite (eight [11%] vs none), nasopharyngitis (seven [10%] vs none), and dizziness (five [7%] vs 1 [3%]). Two serious adverse events (one event of severe acute psychosis and one event of moderate suicidal ideation) were reported, and both were considered to be related to the study drug. There were no reported deaths.INTERPRETATION:These results support the clinical efficacy of sodium oxybate for the treatment of both excessive daytime sleepiness and cataplexy in narcolepsy in children. The safety profile of sodium oxybate was consistent with that observed in adult patients.FUNDING:Jazz Pharmaceuticals.

Published
2018
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6. The distinguishing motor features of cataplexy: a study from video recorded attacks

Author

Christian R. Baumann, Yves Dauvilliers, Elena Antelmi, Mark J. Edwards, Michele Tinazzi, Stefano Vandi, Sebastiaan Overeem, Roberto Erro, Kailash P. Bhatia, Stefano Meletti, Rocco Liguori, Fabio Pizza, Alex Iranzo, Giuseppe Plazzi, University of Zurich, Plazzi, Giuseppe, Signal Processing Systems, Biomedical Diagnostics Lab, Pizza, Fabio, Antelmi, Elena, Vandi, Stefano, Meletti, Stefano, Erro, Roberto, Baumann, Christian R, Bhatia, Kailash P, Dauvilliers, Yve, Edwards, Mark J, Iranzo, Alex, Overeem, Sebastiaan, Tinazzi, Michele, Liguori, Rocco, Alma Mater Studiorum Università di Bologna [Bologna] (UNIBO), University of Bologna, Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), and Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Adult, Male, medicine.medical_specialty, Cataplexy, Facial hypotonia, [SDV]Life Sciences [q-bio], media_common.quotation_subject, Posture, Video Recording, pseudocataplexy, 610 Medicine & health, narcolepsy, Audiology, cataplectic facies, cataplexy, functional neurological symptom disorder, Laughter, 03 medical and health sciences, 0302 clinical medicine, 2737 Physiology (medical), Ptosis, Physiology (medical), Functional neurological symptom disorder, Medicine, Humans, 030212 general & internal medicine, Conversion disorder, media_common, Facial expression, business.industry, cataplectic facie, medicine.disease, 3. Good health, 10040 Clinic for Neurology, Facial Expression, 2728 Neurology (clinical), Muscle Hypotonia, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Narcolepsy
Abstract

International audience; Study Objectives: To describe the motor pattern of cataplexy and to determine its phenomenological differences from pseudocataplexy in the differential diagnosis of episodic falls. Methods: We selected 30 video-recorded cataplexy and 21 pseudocataplexy attacks in 17 and 10 patients evaluated for suspected narcolepsy and with final diagnosis of narcolepsy type 1 and conversion disorder, respectively, together with self-reported attacks features, and asked expert neurologists to blindly evaluate the motor features of the attacks. Video documented and self-reported attack features of cataplexy and pseudocataplexy were contrasted. Results: Video-recorded cataplexy can be positively differentiated from pseudocataplexy by the occurrence of facial hypotonia (ptosis, mouth opening, tongue protrusion) intermingled by jerks and grimaces abruptly interrupting laughter behavior (i.e. smile, facial expression) and postural control (head drops, trunk fall) under clear emotional trigger. Facial involvement is present in both partial and generalized cataplexy. Conversely, generalized pseudocataplexy is associated with persistence of deep tendon reflexes during the attack. Self-reported features confirmed the important role of positive emotions (laughter, telling a joke) in triggering the attacks, as well as the more frequent occurrence of partial body involvement in cataplexy compared with pseudocataplexy. Conclusions: Cataplexy is characterized by abrupt facial involvement during laughter behavior. Video recording of suspected cataplexy attacks allows the identification of positive clinical signs useful for diagnosis and, possibly in the future, for severity assessment.

Published
2018
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7. Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder

Author

Li, J, Ruskey, J, Arnulf, I, Dauvilliers, Y, Hu, M, Högl, B, Leblond, C, Zhou, S, Ambalavanan, A, Ross, J, Bourassa, C, Spiegelman, D, Laurent, S, Stefani, A, Charley Monaca, C, Cochen De Cock, V, Boivin, M, Ferini-Strambi, L, Plazzi, G, Antelmi, E, Young, P, Heidbreder, A, Labbe, C, Ferman, T, Dion, P, Fan, D, Desautels, A, Gagnon, J, Dupré, N, Fon, E, Montplaisir, J, Boeve, B, Postuma, R, Rouleau, G, Ross, O, Gan-Or, Z, Li, J., Ruskey, J. A., Arnulf, I., Dauvilliers, Y., M. T. M., Hu, Hogl, B., Leblond, C. S., Zhou, S., Ambalavanan, A., Ross, J. P., Bourassa, C. V., Spiegelman, D., Laurent, S. B., Stefani, A., Charley Monaca, C., Cochen De Cock, V., Boivin, M., Ferini-Strambi, L., Plazzi, G., Antelmi, E., Young, P., Heidbreder, A., Labbe, C., Ferman, T. J., Dion, P. A., Fan, D., Desautels, A., Gagnon, J. -F., Dupre, N., Fon, E. A., Montplaisir, J. Y., Boeve, B. F., Postuma, R. B., Rouleau, G. A., Ross, O. A., Gan-Or, Z., Service des Pathologies du sommeil [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurophysiologie clinique (CHRU Lille), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Euromov (EuroMov), Université de Montpellier (UM), Clinique Beau Soleil [Montpellier], Li, Jiao, Ruskey, Jennifer A., Arnulf, Isabelle, Dauvilliers, Yve, Hu, Michele T.M., Högl, Birgit, Leblond, Claire S., Zhou, Sirui, Ambalavanan, Amirthagowri, Ross, Jay P., Bourassa, Cynthia V., Spiegelman, Dan, Laurent, Sandra B, Stefani, Ambra, Charley Monaca, Christelle, Cochen De Cock, Valérie, Boivin, Michel, Ferini-Strambi, Luigi, Plazzi, Giuseppe, Antelmi, Elena, Young, Peter, Heidbreder, Anna, Labbe, Catherine, Ferman, Tanis J., Dion, Patrick A., Fan, Dongsheng, Desautels, Alex, Gagnon, Jean-Françoi, Dupré, Nicola, Fon, Edward A., Montplaisir, Jacques Y., Boeve, Bradley F., Postuma, Ronald B., Rouleau, Guy A., Ross, Owen A., and Gan-Or, Ziv

Subjects
Lewy Body Disease, Male, Principal Component Analysis, Genotype, Parkinson's disease, REM sleep behavior disorder, Parkinson Disease, tau Proteins, Middle Aged, Polymorphism, Single Nucleotide, Cohort Studies, Neurology, Gene Frequency, genetics, MAPT, Neurology (clinical), Humans, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Genetic Predisposition to Disease, genetic, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Aged
Abstract

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.

Published
2018
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8. The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder

Author

Christelle Charley Monaca, Isabelle Arnulf, Guy A. Rouleau, Yves Dauvilliers, Elena Antelmi, Stephanie Strong, Ambra Stefani, Michel Boivin, Patrick A. Dion, Birgit Högl, Alex Desautels, Michele T.M. Hu, Luigi Ferini-Strambi, Valérie Cochen De Cock, Peter Young, Giuseppe Plazzi, Claire S. Leblond, Nicolas Dupré, Michal Rolinski, Anna Heidbreder, Thomas R Barber, Ronald B. Postuma, Ziv Gan-Or, Jay P. Ross, Jacques Montplaisir, Samuel Evetts, Judes Poirier, Simon C. Warby, Jean-François Gagnon, Gan-Or, Ziv, Montplaisir, Jacques Y., Ross, Jay P., Poirier, Jude, Warby, Simon C., Arnulf, Isabelle, Strong, Stephanie, Dauvilliers, Yve, Leblond, Claire S., Michele T. M., Hu, Högl, Birgit, Stefani, Ambra, Monaca, Christelle Charley, De Cock, Valérie Cochen, Boivin, Michel, Ferini-Strambi, Luigi, Plazzi, Giuseppe, Antelmi, Elena, Young, Peter, Heidbreder, Anna, Barber, Thomas R., Evetts, Samuel G., Rolinski, Michal, Dion, Patrick A., Desautels, Alex, Gagnon, Jean-Françoi, Dupré, Nicola, Postuma, Ronald B., Rouleau, Guy A., McGill University = Université McGill [Montréal, Canada], Hôpital du Sacré-Coeur de Montréal, Service des Pathologies du sommeil [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), University of Oxford [Oxford], Department of Neurology, Innsbruck Medical University [Austria] (IMU), Centre Hospitalier Universitaire de Lille (CHU de Lille), Euromov (EuroMov), Université de Montpellier (UM), Faculté de médecine de l'Université Laval [Québec] (ULaval), Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University [Milan, Italie] (UniSR), University of Bologna, University of Münster, Centre hospitalier universitaire de Québec (CHUQ), Centre Hospitalier Universitaire de Québec, Montplaisir, Jacques Y, Ross, Jay P, Warby, Simon C, Leblond, Claire S, Hu, Michele T M, Barber, Thomas R, Evetts, Samuel G, Dion, Patrick A, Postuma, Ronald B, and Rouleau, Guy A

Subjects
0301 basic medicine, Apolipoprotein E, Male, Aging, Parkinson's disease, Dementia with Lewy bodie, [SDV]Life Sciences [q-bio], Dementia with Lewy bodies, REM sleep behavior disorder, Gastroenterology, 0302 clinical medicine, Gene Frequency, Risk Factors, Allele, General Neuroscience, Parkinson Disease, 3. Good health, Female, Supranuclear Palsy, Progressive, APOE, Human, Adult, Lewy Body Disease, medicine.medical_specialty, Adolescent, Single-nucleotide polymorphism, Genetic Association Studie, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, Apolipoproteins E, Genetic, Internal medicine, Genetics, medicine, Humans, Dementia, Allele frequency, Alleles, Genetic Association Studies, Synucleinopathies, Neuroscience (all), business.industry, Risk Factor, Multiple System Atrophy, medicine.disease, 030104 developmental biology, Neurology (clinical), Geriatrics and Gerontology, business, Neuroscience, 030217 neurology & neurosurgery, Developmental Biology
Abstract

International audience; The present study aimed to examine whether the APOE ε4 allele, associated with dementia with Lewy bodies (DLB), and possibly with dementia in Parkinson's disease (PD), is also associated with idiopathic rapid eye movement sleep behavior disorder (RBD). Two single nucleotide polymorphisms, rs429358 and rs7412, were genotyped in RBD patients (n = 480) and in controls (n = 823). APOE ε4 allele frequency was 0.14 among RBD patients and 0.13 among controls (OR = 1.11, 95% CI: 0.88-1.40, p = 0.41). APOE ε4 allele frequencies were similar in those who converted to DLB (0.14) and those who converted to Parkinson's disease (0.12) or multiple system atrophy (0.14, p = 1.0). The APOE ε4 allele is neither a risk factor for RBD nor it is associated with conversion from RBD to DLB or other synucleinopathies.

Published
2017
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