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4. Safety and efficacy of subcutaneous night-time only apomorphine infusion to treat insomnia in patients with Parkinson's disease (APOMORPHEE): a multicentre, randomised, controlled, double-blind crossover study

Author

De Cock, Valérie Cochen, Dodet, Pauline, Leu-Semenescu, Smaranda, Aerts, Cécile, Castelnovo, Giovanni, Abril, Beatriz, Drapier, Sophie, Olivet, Hélène, Corbillé, Anne-Gaëlle, Leclair-Visonneau, Laurène, Sallansonnet-Froment, Magali, Lebouteux, Marie, Anheim, Mathieu, Ruppert, Elisabeth, Vitello, Nicolas, Eusebio, Alexandre, Lambert, Isabelle, Marques, Ana, Fantini, Maria Livia, Devos, David, Monaca, Christelle, Benard-Serre, Nicolas, Lacombe, Sandy, Vidailhet, Marie, Arnulf, Isabelle, Doulazmi, Mohamed, and Roze, Emmanuel

Published
2022
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5. Immediate Effect of Continuous Positive Airway Pressure Therapy on Sleep and Respiration in Patients with Multiple System Atrophy and Sleep‐Disordered Breathing.

Author

Lazzeri, Giulia, Houot, Marion, Patout, Maxime, Londner, Cécile, Philippe, Carole, Attard, Stephane, Delpy, Teddy, Ruggeri, Joanna, Degos, Bertrand, Cormier, Florence, Vidailhet, Marie, Corvol, Jean Cristophe, Arnulf, Isabelle, Grabli, David, and Dodet, Pauline

Abstract

Background: Sleep‐disordered breathing (SDB; including stridor and sleep apnea syndromes) is frequent in multiple system atrophy (MSA), but the immediate effect of continuous positive airway pressure (CPAP) therapy is incompletely determined. Objective: We sought to evaluate the acute effect and safety of CPAP therapy on SDB and sleep architecture, as well as the clinical characteristics of nonresponders to CPAP therapy. Methods: The measures of 63 consecutive patients with MSA who underwent a video‐polysomnography during two consecutive nights (a first night in ambient air, a second night with or without CPAP, depending on the presence of SDB and availability of CPAP) in routine care were retrospectively collected. Linear mixed models assessed the two‐night change in sleep and respiratory measures, comparing those with and without the CPAP therapy on the second night. Results: SDB was frequent and mainly associated with the cerebellar phenotype. The introduction of CPAP had immediate benefits, including the normalization of the apnea–hypopnea index and a resolution of stridor in more than two‐thirds of the cases, decreased arousal index, and increased rapid eye movement sleep. CPAP therapy was well tolerated, and only two patients had emergent central apneas. Nonresponse to CPAP was generally associated with more severe motor disease. Conclusions: CPAP seems a well‐tolerated and effective therapy in patients with MSA and SDB in the short term. This treatment shows remarkable immediate benefits by objectively improving both respiratory disturbances and sleep architecture. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Somnolence résiduelle (SR) sous pression positive continue (PPC) : causes sous-jacentes

Author

Miquel, Clarisse, primary, Arnulf, Isabelle, additional, Patout, Maxime, additional, Jeantin, Lina, additional, Dodet, Pauline, additional, Londner, Cécile, additional, Carole, Philippe, additional, Leu-Semenescu, Smaranda, additional, Launois, Claire, additional, Bianquis, Clara, additional, Masset, Luc, additional, Attali, Valérie, additional, and Gales, Ana, additional

Published
2024
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11. Academic and socio-professional trajectories in narcolepsy type 1: the NARCOSCOL-NARCOVITAE multicentric study

Author

Peter-Derex, Laure, primary, Fort, Emmanuel, additional, Putois, Benjamin, additional, Martel, Nora, additional, Ricordeau, Francois, additional, Bastuji, Helene, additional, Arnulf, Isabelle, additional, Barateau, Lucie, additional, Bourgin, Patrice, additional, Dauvilliers, Yves, additional, Debs, Rachel, additional, Dodet, Pauline, additional, Dudoignon, Benjamin, additional, Franco, Patricia, additional, Hartley, Sarah, additional, Lambert, Isabelle, additional, Lecendreux, Michel, additional, Leotard, Antoine, additional, Leu-Semenescu, Smaranda, additional, Leclair-Visonneau, Laurene, additional, Leger, Damien, additional, Lemesle-Martin, Martine, additional, Limousin, Nadege, additional, Lopez, Regis, additional, Meslier, Nicole, additional, Micoulaud-Franchi, Jean-Arthur, additional, Charley-Mocana, Christelle, additional, d Ortho, Marie-Pia, additional, Philip, Pierre, additional, Ruppert, Elisabeth, additional, de La Tullaye, Sylvie, additional, Brigandet, Manon, additional, Margier, Jennnifer, additional, Rolland, Benjamin, additional, Charbotel, Barbara, additional, and Mazza, Stephanie, additional

Published
2024
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12. Long-term effect of apomorphine infusion in advanced Parkinson’s disease: a real-life study

Author

Meira, Bruna, Degos, Bertrand, Corsetti, Elise, Doulazmi, Mohamed, Berthelot, Emeline, Virbel-Fleischman, Clara, Dodet, Pauline, Méneret, Aurélie, Mariani, Louise-Laure, Delorme, Cécile, Cormier-Dequaire, Florence, Bendetowicz, David, Villain, Nicolas, Tarrano, Clément, Mantisi, Lise, Letrillart, Hélène, Louapre, Céline, McGovern, Eavan, Worbe, Yulia, Grabli, David, Vidailhet, Marie, Hainque, Elodie, and Roze, Emmanuel

Published
2021
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16. Charting Disease Trajectories from Isolated REM Sleep Behavior Disorder to Parkinson's Disease.

Author

Di Folco, Cécile, Couronné, Raphaël, Arnulf, Isabelle, Mangone, Graziella, Leu‐Semenescu, Smaranda, Dodet, Pauline, Vidailhet, Marie, Corvol, Jean‐Christophe, Lehéricy, Stéphane, and Durrleman, Stanley

Abstract

Background: Clinical presentation and progression dynamics are variable in patients with Parkinson's disease (PD). Disease course mapping is an innovative disease modelling technique that summarizes the range of possible disease trajectories and estimates dimensions related to onset, sequence, and speed of progression of disease markers. Objective: To propose a disease course map for PD and investigate progression profiles in patients with or without rapid eye movement sleep behavioral disorders (RBD). Methods: Data of 919 PD patients and 88 isolated RBD patients from three independent longitudinal cohorts were analyzed (follow‐up duration = 5.1; 95% confidence interval, 1.1–8.1] years). Disease course map was estimated by using eight clinical markers (motor and non‐motor symptoms) and four imaging markers (dopaminergic denervation). Results: PD course map showed that the first changes occurred in the contralateral putamen 13 years before diagnosis, followed by changes in motor symptoms, dysautonomia, sleep—all before diagnosis—and finally cognitive decline at the time of diagnosis. The model showed earlier disease onset, earlier non‐motor and later motor symptoms, more rapid progression of cognitive decline in PD patients with RBD than PD patients without RBD. This pattern was even more pronounced in patients with isolated RBD with early changes in sleep, followed by cognition and non‐motor symptoms and later changes in motor symptoms. Conclusions: Our findings are consistent with the presence of distinct patterns of progression between patients with and without RBD. Understanding heterogeneity of PD progression is key to decipher the underlying pathophysiology and select homogeneous subgroups of patients for precision medicine. © 2023 International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Les auteurs

Author

Arnulf, Isabelle, primary, Barateau, Lucie, additional, Bélanger, Lynda, additional, Bonafé, Isabelle, additional, Bourgin, Patrice, additional, Carlander, Bertrand, additional, Challamel, Marie-Josèphe, additional, Charley-Monaca, Christelle, additional, Chenini, Sofiène, additional, Copinschi, Georges, additional, Crampette, Louis, additional, Dauvilliers, Yves, additional, d’Ortho, Marie-Pia, additional, Davy, Jean-Marc, additional, Deliens, Gaétane, additional, Destors, Marie, additional, Dodet, Pauline, additional, Evangelista, Elisa, additional, Franco, Patricia, additional, de Santerre, Olivier Gallet, additional, Gronfier, Claude, additional, Guzun, Rita, additional, Jaussent, Isabelle, additional, Konofal, Eric, additional, Launois-Rollinat, Sandrine, additional, Lecendreux, Michel, additional, Léger, Damien, additional, Leu-Semenescu, Smaranda, additional, Lévy, Patrick, additional, Lopez, Régis, additional, Luppi, Pierre-Hervé, additional, Micoulaud-Franchi, Jean-Arthur, additional, Monteyrol, Pierre-Jean, additional, Morin, Charles M., additional, Nobili, Lino, additional, Peigneux, Philippe, additional, Pépin, Jean-Louis, additional, Pételle, Boris, additional, Peyron, Christelle, additional, Philip, Pierre, additional, Putois, Benjamin, additional, Quera-Salva, Maria-Antonia, additional, Roubille, François, additional, Sagaspe, Patricia, additional, Schröder, Carmen M., additional, Spiegel, Karine, additional, Taillard, Jacques, additional, Tamisier, Renaud, additional, and Vecchierini, Marie-Françoise, additional

Published
2019
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18. Motor neuron involvement threatens survival in spinocerebellar ataxia type 1

Author

Coarelli, Giulia, primary, Tchikviladzé, Maya, additional, Dodet, Pauline, additional, Arnulf, Isabelle, additional, Charles, Perrine, additional, Tankeré, Frederic, additional, Similowski, Thomas, additional, Seilhean, Danielle, additional, Brice, Alexis, additional, Duyckaerts, Charles, additional, and Durr, Alexandra, additional

Published
2023
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20. Description de la transition dans la narcolepsie de type 1

Author

Dudoignon, Benjamin, primary, Maranci, Jean-Baptiste, additional, Leu-Semenescu, Smaranda, additional, Cabrillac, Gum Suk, additional, Chaumereuil, Charlotte, additional, Zhuang, Élisée, additional, Pech De Laclause, Anna, additional, Dodet, Pauline, additional, Lecendreux, Michel, additional, and Arnulf, Isabelle, additional

Published
2023
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22. Night-Time Apomorphine Infusion: Who Are the Best Candidates?

Author

de Cock, Valérie Cochen, Dodet, Pauline, Leu-Semenescu, Smaranda, Aerts, Cécile, Abril, Beatriz, Castelnovo, Giovanni, Landragin, Nicolas, Drapier, Sophie, Olivet, Hélène, Corbillé, Anne Gaelle, Leclair-Visonneau, Laurène, Anheim, Mathieu, Vidailhet, Marie, Arnulf, Isabelle, Doulazmi, Mohamed, Roze, Emmanuel, Clinique Beau Soleil [Montpellier], EuroMov - Digital Health in Motion (Euromov DHM), IMT - MINES ALES (IMT - MINES ALES), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Montpellier (UM), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Clinique du Millénaire - Oc Santé [Montpellier], Oc Santé [Montpellier], Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], Polyclinique Saint Laurent [Rennes], Centre d'investigation clinique (CIC) de Nantes -CIC Plurithématique (CIC 0004 - Nantes), Direction Générale de l'Organisation des Soins (DGOS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre hospitalier universitaire de Nantes (CHU Nantes), The Enteric Nervous System in gut and brain disorders [U1235] (TENS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), CHU Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Adaptation Biologique et Vieillissement = Biological Adaptation and Ageing (B2A), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), and Orkyn Ltd Aguettant Pharma Société Française de Médecine Esthétique

Subjects
motor fluctuations, treatment, Parkinson's disease, insomnia, [SDV]Life Sciences [q-bio], [SCCO.NEUR]Cognitive science/Neuroscience, sleep, sleepiness, apomorphine
Abstract

International audience; Background: We recently demonstrated in a randomized controlled trial (APOMORPHEE, NCT02940912) that night-time only subcutaneous apomorphine infusion improves sleep disturbances and insomnia in patients with advanced Parkinson's disease and moderate to severe insomnia. Objectives: To identify the best candidates for receiving night-time only subcutaneous apomorphine infusion in routine care. Methods: In this post-hoc analysis of APOMORPHEE, we compared the characteristics of patients according to whether they chose to continue night-time only subcutaneous apomorphine infusion at the end of the study period or not. Results: Half of the patients (22/42) chose to continue the treatment. Off duration (day or night), painful Off dystonia, and insomnia severity at baseline were associated with night-time only apomorphine continuation. Multivariate analysis retained only Off duration as an independent predictor of continuation. Conclusions:The best candidates for night-time only apomorphine are patients with severe and prolonged Off periods (day or night) and severe insomnia.

Published
2023
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24. Night‐Time Apomorphine Infusion: Who Are the Best Candidates?

Author

Cochen De Cock, Valérie, Dodet, Pauline, Leu‐Semenescu, Smaranda, Aerts, Cécile, Abril, Beatriz, Castelnovo, Giovanni, Landragin, Nicolas, Drapier, Sophie, Olivet, Hélène, Corbillé, Anne‐Gaëlle, Leclair‐Visonneau, Laurène, Anheim, Mathieu, Vidailhet, Marie, Arnulf, Isabelle, Doulazmi, Mohamed, and Roze, Emmanuel

Subjects
*APOMORPHINE, *SLEEP interruptions, *SUBCUTANEOUS infusions, *PARKINSON'S disease, *RANDOMIZED controlled trials
Abstract

Background: We recently demonstrated in a randomized controlled trial (APOMORPHEE, NCT02940912) that night‐time only subcutaneous apomorphine infusion improves sleep disturbances and insomnia in patients with advanced Parkinson's disease and moderate to severe insomnia. Objectives: To identify the best candidates for receiving night‐time only subcutaneous apomorphine infusion in routine care. Methods: In this post‐hoc analysis of APOMORPHEE, we compared the characteristics of patients according to whether they chose to continue night‐time only subcutaneous apomorphine infusion at the end of the study period or not. Results: Half of the patients (22/42) chose to continue the treatment. Off duration (day or night), painful Off dystonia, and insomnia severity at baseline were associated with night‐time only apomorphine continuation. Multivariate analysis retained only Off duration as an independent predictor of continuation. Conclusions: The best candidates for night‐time only apomorphine are patients with severe and prolonged Off periods (day or night) and severe insomnia. [ABSTRACT FROM AUTHOR]

Published
2023
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25. Comorbid parasomnias in narcolepsy and idiopathic hypersomnia: more REM than NREM parasomnias

Author

Leu-Semenescu, Smaranda, primary, Maranci, Jean-Baptiste, additional, Lopez, Régis, additional, Drouot, Xavier, additional, Dodet, Pauline, additional, Gales, Ana, additional, Groos, Elisabeth, additional, Barateau, Lucie, additional, Franco, Patricia, additional, Lecendreux, Michel, additional, Dauvilliers, Yves, additional, and Arnulf, Isabelle, additional

Published
2022
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37. Sleeping through a Pandemic: Impact of COVID-19 Related Restrictions on Narcolepsy and

Author

Nigam, Milan, Hippolyte, Amandine, Dodet, Pauline, Gales, Ana, Maranci, Jean-Baptiste, Al-Youssef, Saba, Leu-Semenescu, Smaranda, Arnulf, Isabelle, 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), Hôpital du Sacré-Coeur de Montréal, Université du Québec à Montréal = University of Québec in Montréal (UQAM), Université de Montpellier (UM), 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), Service de Pathologies du sommeil [CHU Pitié-Salpêtrière], Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), and HAL-SU, Gestionnaire

Subjects
lockdown, teleworking, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Sars-CoV-2, confinement, hypersomnia, COVID-19, narcolepsy, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience; Study Objectives:To assess the impact of COVID-19 related restrictions on narcolepsy type 1 (NT2), narcolepsy type 2 (NT2), and idiopathic hypersomnia (IH).Methods:Participants with NT1, NT2 and IH followed in a university hospital completed an online 78-question survey assessing demographic, clinical and occupational features of the population during the first COVID-19 related lockdown.Results:The 219 /851 (25.7%) respondents of the survey reported a mean increase of 1.2±1.9 hours (P

Published
2021
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38. The spatiotemporal changes in dopamine, neuromelanin and iron characterizing Parkinson's disease

Author

Biondetti, Emma, Santin, Mathieu D., Valabrègue, Romain, Mangone, Graziella, Gaurav, Rahul, Pyatigorskaya, Nadya, Hutchison, Matthew, Yahia-Cherif, Lydia, Villain, Nicolas, Habert, Marie-Odile, Arnulf, Isabelle, Leu-Semenescu, Smaranda, Dodet, Pauline, Vila Bover, Miquel, Corvol, Jean-Christophe, Vidailhet, Marie, Lehéricy, Stéphane, Universitat Autònoma de Barcelona, Biondetti, Emma, Santin, Mathieu D., Valabrègue, Romain, Mangone, Graziella, Gaurav, Rahul, Pyatigorskaya, Nadya, Hutchison, Matthew, Yahia-Cherif, Lydia, Villain, Nicolas, Habert, Marie-Odile, Arnulf, Isabelle, Leu-Semenescu, Smaranda, Dodet, Pauline, Vila Bover, Miquel, Corvol, Jean-Christophe, Vidailhet, Marie, Lehéricy, Stéphane, and Universitat Autònoma de Barcelona

Abstract

In Parkinson's disease, there is a progressive reduction in striatal dopaminergic function, and loss of neuromelanin-containing dopaminergic neurons and increased iron deposition in the substantia nigra. We tested the hypothesis of a relationship between impairment of the dopaminergic system and changes in the iron metabolism. Based on imaging data of patients with prodromal and early clinical Parkinson's disease, we assessed the spatiotemporal ordering of such changes and relationships in the sensorimotor, associative and limbic territories of the nigrostriatal system. Patients with Parkinson's disease (disease duration < 4 years) or idiopathic REM sleep behaviour disorder (a prodromal form of Parkinson's disease) and healthy controls underwent longitudinal examination (baseline and 2-year follow-up). Neuromelanin and iron sensitive MRI and dopamine transporter single-photon emission tomography were performed to assess nigrostriatal levels of neuromelanin, iron, and dopamine. For all three functional territories of the nigrostriatal system, in the clinically most and least affected hemispheres separately, the following was performed: cross-sectional and longitudinal intergroup difference analysis of striatal dopamine and iron, and nigral neuromelanin and iron; in Parkinson's disease patients, exponential fitting analysis to assess the duration of the prodromal phase and the temporal ordering of changes in dopamine, neuromelanin or iron relative to controls; and voxel-wise correlation analysis to investigate concomitant spatial changes in dopamine-iron, dopamine-neuromelanin and neuromelanin-iron in the substantia nigra pars compacta. The temporal ordering of dopaminergic changes followed the known spatial pattern of progression involving first the sensorimotor, then the associative and limbic striatal and nigral regions. Striatal dopaminergic denervation occurred first followed by abnormal iron metabolism and finally neuromelanin changes in the substantia nigra par

Published
2021

39. Kleine-Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci

Author

Ambati, Aditya, Hillary, Ryan, Leu-Semenescu, Smaranda, Ollila, Hanna M., Lin, Ling, During, Emmanuel H., Farber, Neal, Rico, Thomas J., Faraco, Juliette, Leary, Eileen, Goldstein-Piekarski, Andrea N., Huang, Yu-Shu, Han, Fang, Sivan, Yakov, Lecendreux, Michel, Dodet, Pauline, Honda, Makoto, Gadoth, Natan, Nevsimalova, Sona, Pizza, Fabio, Kanbayashi, Takashi, Peraita-Adrados, Rosa, Leschziner, Guy D., Hasan, Rosa, Canellas, Francesca, Kume, Kazuhiko, Daniilidou, Makrina, Bourgin, Patrice, Rye, David, Vicario, Jose L., Hogl, Birgit, Hong, Seung Chul, Plazzi, Guiseppe, Mayer, Geert, Landtblom, Anne-Marie, Dauvilliers, Yves, Arnulf, Isabelle, Mignot, Emmanuel Jean-Marie, Ambati, Aditya, Hillary, Ryan, Leu-Semenescu, Smaranda, Ollila, Hanna M., Lin, Ling, During, Emmanuel H., Farber, Neal, Rico, Thomas J., Faraco, Juliette, Leary, Eileen, Goldstein-Piekarski, Andrea N., Huang, Yu-Shu, Han, Fang, Sivan, Yakov, Lecendreux, Michel, Dodet, Pauline, Honda, Makoto, Gadoth, Natan, Nevsimalova, Sona, Pizza, Fabio, Kanbayashi, Takashi, Peraita-Adrados, Rosa, Leschziner, Guy D., Hasan, Rosa, Canellas, Francesca, Kume, Kazuhiko, Daniilidou, Makrina, Bourgin, Patrice, Rye, David, Vicario, Jose L., Hogl, Birgit, Hong, Seung Chul, Plazzi, Guiseppe, Mayer, Geert, Landtblom, Anne-Marie, Dauvilliers, Yves, Arnulf, Isabelle, and Mignot, Emmanuel Jean-Marie

Abstract

Kleine-Levin syndrome (KLS) is a rare disorder characterized by severe episodic hypersomnia, with cognitive impairment accompanied by apathy or disinhibition. Pathophysiology is unknown, although imaging studies indicate decreased activity in hypothalamic/thalamic areas during episodes. Familial occurrence is increased, and risk is associated with reports of a difficult birth. We conducted a worldwide case-control genome-wide association study in 673 KLS cases collected over 14 y, and ethnically matched 15,341 control individuals. We found a strong genome-wide significant association (rs71947865, Odds Ratio [OR] = 1.48, P = 8.6 x 10(-9)) within the 3'region of TRANK1 gene locus, previously associated with bipolar disorder and schizophrenia. Strikingly, KLS cases with rs71947865 variant had significantly increased reports of a difficult birth. As perinatal outcomes have dramatically improved over the last 40 y, we further stratified our sample by birth years and found that recent cases had a significantly reduced rs71947865 association. While the rs71947865 association did not replicate in the entire follow-up sample of 171 KLS cases, rs71947865 was significantly associated with KLS in the subset follow-up sample of 59 KLS cases who reported birth difficulties (OR = 1.54, P = 0.01). Genetic liability of KLS as explained by polygenic risk scores was increased (pseudo R-2 = 0.15; P < 2.0 x 10(-22) at P = 0.5 threshold) in the follow-up sample. Pathway analysis of genetic associations identified enrichment of circadian regulation pathway genes in KLS cases. Our results suggest links between KLS, circadian regulation, and bipolar disorder, and indicate that the TRANK1 polymorphisms in conjunction with reported birth difficulties may predispose to KLS.

Published
2021
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41. The spatiotemporal changes in dopamine, neuromelanin and iron characterizing Parkinson’s disease

Author

Biondetti, Emma, primary, Santin, Mathieu D, additional, Valabrègue, Romain, additional, Mangone, Graziella, additional, Gaurav, Rahul, additional, Pyatigorskaya, Nadya, additional, Hutchison, Matthew, additional, Yahia-Cherif, Lydia, additional, Villain, Nicolas, additional, Habert, Marie-Odile, additional, Arnulf, Isabelle, additional, Leu-Semenescu, Smaranda, additional, Dodet, Pauline, additional, Vila, Miquel, additional, Corvol, Jean-Christophe, additional, Vidailhet, Marie, additional, and Lehéricy, Stéphane, additional

Published
2021
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42. Functional brain imaging using 18F-fluorodeoxyglucose positron emission tomography/computerized tomography in 138 patients with Kleine–Levin syndrome: an early marker?

Author

Dudoignon, Benjamin, primary, Tainturier, Laure-Eugénie, additional, Dodet, Pauline, additional, Bera, Géraldine, additional, Groos, Elisabeth, additional, Chaumereuil, Charlotte, additional, Maranci, Jean-Baptiste, additional, Kas, Aurélie, additional, and Arnulf, Isabelle, additional

Published
2021
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44. Kleine-Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci

Author

Ambati, Aditya, primary, Hillary, Ryan, additional, Leu-Semenescu, Smaranda, additional, Ollila, Hanna M., additional, Lin, Ling, additional, During, Emmanuel H., additional, Farber, Neal, additional, Rico, Thomas J., additional, Faraco, Juliette, additional, Leary, Eileen, additional, Goldstein-Piekarski, Andrea N., additional, Huang, Yu-Shu, additional, Han, Fang, additional, Sivan, Yakov, additional, Lecendreux, Michel, additional, Dodet, Pauline, additional, Honda, Makoto, additional, Gadoth, Natan, additional, Nevsimalova, Sona, additional, Pizza, Fabio, additional, Kanbayashi, Takashi, additional, Peraita-Adrados, Rosa, additional, Leschziner, Guy D., additional, Hasan, Rosa, additional, Canellas, Francesca, additional, Kume, Kazuhiko, additional, Daniilidou, Makrina, additional, Bourgin, Patrice, additional, Rye, David, additional, Vicario, José L., additional, Hogl, Birgit, additional, Hong, Seung Chul, additional, Plazzi, Guiseppe, additional, Mayer, Geert, additional, Landtblom, Anne Marie, additional, Dauvilliers, Yves, additional, Arnulf, Isabelle, additional, and Mignot, Emmanuel Jean-Marie, additional

Published
2021
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49. Sleep in ADCY5 -Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements

Author

Méneret, Aurélie, primary, Roze, Emmanuel, additional, Maranci, Jean-Baptiste, additional, Dodet, Pauline, additional, Doummar, Diane, additional, Riant, Florence, additional, Tranchant, Christine, additional, Fraix, Valérie, additional, Anheim, Mathieu, additional, Ekmen, Asya, additional, McGovern, Eavan, additional, Vidailhet, Marie, additional, Arnulf, Isabelle, additional, and Leu-Semenescu, Smaranda, additional

Published
2019
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