Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

Autor: Hanna M. Ollila, Eilon Sharon, Ling Lin, Nasa Sinnott-Armstrong, Aditya Ambati, Selina M. Yogeshwar, Ryan P. Hillary, Otto Jolanki, Juliette Faraco, Mali Einen, Guo Luo, Jing Zhang, Fang Han, Han Yan, Xiao Song Dong, Jing Li, Jun Zhang, Seung-Chul Hong, Tae Won Kim, Yves Dauvilliers, Lucie Barateau, Gert Jan Lammers, Rolf Fronczek, Geert Mayer, Joan Santamaria, Isabelle Arnulf, Stine Knudsen-Heier, May Kristin Lyamouri Bredahl, Per Medbøe Thorsby, Giuseppe Plazzi, Fabio Pizza, Monica Moresco, Catherine Crowe, Stephen K. Van den Eeden, Michel Lecendreux, Patrice Bourgin, Takashi Kanbayashi, Francisco J. Martínez-Orozco, Rosa Peraita-Adrados, Antonio Benetó, Jacques Montplaisir, Alex Desautels, Yu-Shu Huang, FinnGen, Poul Jennum, Sona Nevsimalova, David Kemlink, Alex Iranzo, Sebastiaan Overeem, Aleksandra Wierzbicka, Peter Geisler, Karel Sonka, Makoto Honda, Birgit Högl, Ambra Stefani, Fernando Morgadinho Coelho, Vilma Mantovani, Eva Feketeova, Mia Wadelius, Niclas Eriksson, Hans Smedje, Pär Hallberg, Per Egil Hesla, David Rye, Zerrin Pelin, Luigi Ferini-Strambi, Claudio L. Bassetti, Johannes Mathis, Ramin Khatami, Adi Aran, Sheela Nampoothiri, Tomas Olsson, Ingrid Kockum, Markku Partinen, Markus Perola, Birgitte R. Kornum, Sina Rueger, Juliane Winkelmann, Taku Miyagawa, Hiromi Toyoda, Seik-Soon Khor, Mihoko Shimada, Katsushi Tokunaga, Manuel Rivas, Jonathan K. Pritchard, Neil Risch, Zoltan Kutalik, Ruth O’Hara, Joachim Hallmayer, Chun Jimmie Ye, Emmanuel J. Mignot

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)

Abstract Narcolepsy type 1 (NT1) is caused by a loss of hypocretin/orexin transmission. Risk factors include pandemic 2009 H1N1 influenza A infection and immunization with Pandemrix®. Here, we dissect disease mechanisms and interactions with environ

Externí odkaz: https://doaj.org/article/5ce5735744474cff8886bce42fe536b9

Automatically Detected Microsleep Episodes in the Fitness-to-Drive Assessment

Autor: Jelena Skorucak, Anneke Hertig-Godeschalk, Peter Achermann, Johannes Mathis, David R. Schreier

Publikováno v: Frontiers in Neuroscience, Vol 14 (2020)

Study Objectives: Microsleep episodes (MSEs) are short fragments of sleep (1–15 s) that can cause dangerous situations with potentially fatal outcomes. In the diagnostic sleep-wake and fitness-to-drive assessment, accurate and early identification

Externí odkaz: https://doaj.org/article/5078509799fb4cd99c0959d2a9b56720

Effects of short- and long-term variations in RLS severity on perceived health status - the COR-study.

Autor: Andrea Fuhs, Dunya Bentama, Rafael Antkowiak, Johannes Mathis, Claudia Trenkwalder, Klaus Berger

Publikováno v: PLoS ONE, Vol 9, Iss 4, p e94821 (2014)

In a cohort study among 2751 members (71.5% females) of the German and Swiss RLS patient organizations changes in restless legs syndrome (RLS) severity over time was assessed and the impact on quality of life, sleep quality and depressive symptoms wa

Externí odkaz: https://doaj.org/article/ebd9bd6dfbd8489baf0f6fc5de277dda

Assessing periodicity of periodic leg movements during sleep

Autor: Christian eRummel, Heidemarie Gast, Kaspar Schindler, Markus Mueller, Frederique Amor, Christian W Hess, Johannes Mathis

Publikováno v: Frontiers in Neuroscience, Vol 4 (2010)

Background: Periodic leg movements during sleep (PLMS) consist of involuntary periodic movements of the lower extremities. The debated functional relevance of PLMS is based on correlation of clinical parameters with the PLMS index (PLMI). However, pe

Externí odkaz: https://doaj.org/article/39701f73e61e4dc4be1b062abc9df269

The Swiss Narcolepsy Scale (SNS) and its short form (sSNS) for the discrimination of narcolepsy in patients with hypersomnolence: a cohort study based on the Bern Sleep–Wake Database

Autor: Anelia Dietmann, Claudio L. Bassetti, Panagiotis Bargiotas, Alan G. Haynes, Marta Garcia Calle, Markus H. Schmidt, Johannes Mathis, Ulf Kallweit

Publikováno v: Bargiotas, Panagiotis; Dietmann, Anelia; Haynes, Alan G; Kallweit, Ulf; Garcia Calle, Marta; Schmidt, Markus; Mathis, Johannes; Bassetti, Claudio L (2019). The Swiss Narcolepsy Scale (SNS) and its short form (sSNS) for the discrimination of narcolepsy in patients with hypersomnolence: a cohort study based on the Bern Sleep-Wake Database. Journal of neurology, 266(9), pp. 2137-2143. Springer-Medizin-Verlag 10.1007/s00415-019-09365-2

Previous studies reported high sensitivity and specificity of the Swiss Narcolepsy Scale (SNS) for the diagnosis of narcolepsy type 1. We used data from the Bern Sleep-Wake Database to investigate the discriminating capacity of both the SNS and the E

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::089d1a063904a1e931b2000da7603f74
https://doi.org/10.1007/s00415-019-09365-2