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1. The "Neurological Hat Game": A fun way to learn the neurological semiology.

Author: Garcin B, Mariani LL, Méneret A, Mongin M, Delorme C, Cormier F, Renaud MC, Roze E, and Degos B
Subjects: Diagnosis, Differential, Educational Measurement, Female, Humans, Limbic System anatomy & histology, Male, Memory Consolidation, Neural Pathways anatomy & histology, Personal Satisfaction, Pleasure, Preliminary Data, Students, Medical psychology, Teaching, Games, Recreational psychology, Learning, Neurology education, Terminology as Topic
Abstract: Introduction: In-class courses are deserted by medical students who tend to find it more beneficial to study in books and through online material. New interactive teaching methods, such as serious games increase both performance and motivation. We developed and assessed a new teaching method for neurological semiology using the "Hat Game" as a basis., Methods: In this game, two teams of second-year medical students are playing against one another. The game is played with a deck of cards. A neurological symptom or sign is written on each card. Each team gets a predefined period of time to guess as many words as possible. One member is the clue-giver and the others are the guessers. There are three rounds: during the first round, the clue-giver uses any descriptive term he wants and as many as he wants to make his team guess the maximum number of words within the allocated time. During the second round, the clue-giver can only choose one clue-word and, during the third round, he mimes the symptom or sign. The team that has guessed the most cards wins the game. To assess the efficacy of this learning procedure, multiple choices questions (MCQs) were asked before and after the game. Exam results of second-year students on their final university Neurology exam were analyzed. A satisfaction survey was proposed to all participating students., Results: Among 373 students, 121 volunteers (32.4%) were enrolled in the "Neurology Hat Game" and 112 attended the game. One hundred and seven of the 112 students completed the MCQs with a significant improvement in their responses after the game (P<0.001). The 112 students who completed the satisfaction self-administered questionnaire were very satisfied with this funny new teaching method., Conclusions: Teaching neurological semiology via the "Hat Game" is an interesting method because it is student-centered, playful and complementary to the lecturer-centered courses. A randomized controlled study would be necessary to confirm these preliminary results., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)
Published: 2019
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2. 'The Move', an innovative simulation-based medical education program using roleplay to teach neurological semiology: Students' and teachers' perceptions.

Author: Roze E, Flamand-Roze C, Méneret A, Ruiz M, Le Liepvre H, Duguet A, Renaud MC, Alamowitch S, and Steichen O
Subjects: Adult, Attitude of Health Personnel, Curriculum, Feasibility Studies, Female, Humans, Inventions, Male, Patient Simulation, Professional Role psychology, Role, Surveys and Questionnaires, Young Adult, Education, Medical methods, Faculty, Medical psychology, Neurology education, Perception, Simulation Training methods, Students, Medical psychology
Abstract: Introduction: Neurological disorders are frequently being managed by general practitioners. It is therefore critical that future physicians become comfortable with neurological examination and physical diagnosis. Graduating medical students often consider neurological examination as one of the clinical skills they are least comfortable with, and they even tend to be neurophobic. One way to improve the learning of neurological semiology is to design innovative learner-friendly educational methods, including simulation training., Methods: The feasibility of mime-based roleplaying was tested by a simulation training program in neurological semiology called 'The Move'. The program was proposed to third-year medical students at Pierre and Marie Curie University in Paris during their neurology rotation. Students were trained to roleplay patients by miming various neurological syndromes (pyramidal, vestibular, cerebellar, parkinsonian) as well as distal axonopathy, chorea and tonic-clonic seizures. Using an anonymous self-administered questionnaire, the students' and teachers' emotional experience and views on the impact of the program were then investigated., Results: A total of 223/365 students (61%) chose to participate in the study. Both students and teachers felt their participation was pleasant. Students stated that The Move increased their motivation to learn neurological semiology (78%), and improved both their understanding of the subject (77%) and their long-term memorization of the teaching content (86%). Although only a minority thought The Move was likely to improve their performance on their final medical examination (32%), a clear majority (77%) thought it would be useful for their future clinical practice. Both students (87%) and teachers (95%) thought The Move should be included in the medical curriculum., Conclusion: Mime-based roleplaying simulation may be a valuable tool for training medical students in neurological semiology, and may also help them to overcome neurophobia., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)
Published: 2016
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3. Non‐motor symptoms and quality of life in patients with <scp>PRRT2</scp> ‐related paroxysmal kinesigenic dyskinesia

Author: Asya Ekmen, Mohamed Doulazmi, Aurélie Méneret, Prasanthi Jegatheesan, Anais Hervé, Philippe Damier, Domitille Gras, Agathe Roubertie, Juliette Piard, Eugenie Mutez, Clément Tarrano, Quentin Welniarz, Marie Vidailhet, Yulia Worbe, Cécile Gallea, and Emmanuel Roze
Subjects: Neurology, Neurology (clinical)
Published: 2023

4. Scoping review on <scp>ADCY5</scp> ‐related movement disorders

Author: Poornima Jayadev Menon, Christelle Nilles, Laura Silveira‐Moriyama, Ruiyi Yuan, Claudio M. de Gusmao, Alexander Münchau, Miryam Carecchio, Steve Grossman, Gay Grossman, Aurélie Méneret, Emmanuel Roze, and Tamara Pringsheim
Subjects: Neurology, Neurology (clinical)
Published: 2023

5. Fixel‐Based Analysis Reveals Whole‐Brain White Matter Abnormalities in Cervical Dystonia

Author: Giuseppe A. Zito, Clément Tarrano, Salim Ouarab, Prasanthi Jegatheesan, Asya Ekmen, Benoît Béranger, Romain Valabregue, Cécile Hubsch, Sophie Sangla, Cécilia Bonnet, Cécile Delorme, Aurélie Méneret, Bertrand Degos, Floriane Bouquet, Marion Apoil Brissard, Marie Vidailhet, Dominique Hasboun, Yulia Worbe, Emmanuel Roze, and Cécile Gallea
Subjects: Neurology, Neurology (clinical)
Published: 2023

6. Anti-MOG associated disease with intracranial hypertension after COVID-19 vaccination

Author: Lina Jeantin, Adèle Hesters, Dorine Fournier, Bénédicte Lebrun-Vignes, Aurélie Méneret, Caroline Papeix, Valérie Touitou, and Elisabeth Maillart
Subjects: COVID-19 Vaccines, Neurology, Vaccination, COVID-19, Humans, Myelin-Oligodendrocyte Glycoprotein, Neurology (clinical), Intracranial Hypertension, Autoantibodies
Published: 2022

7. Efficacy of Caffeine in <scp>ADCY5</scp> ‐Related Dyskinesia: A Retrospective Study

Author: Aurélie Méneret, Shekeeb S. Mohammad, Laura Cif, Diane Doummar, Claudio DeGusmao, Mathieu Anheim, Magalie Barth, Philippe Damier, Nathalie Demonceau, Jennifer Friedman, Cécile Gallea, Domitille Gras, Juliana Gurgel‐Giannetti, Emily A. Innes, Ján Necpál, Florence Riant, Sandrine Sagnes, Catherine Sarret, Yury Seliverstov, Vijayashankar Paramanandam, Kuldeep Shetty, Christine Tranchant, Mohamed Doulazmi, Marie Vidailhet, Tamara Pringsheim, Emmanuel Roze, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), 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), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre d’Investigation Clinique de Nantes (CIC Nantes), Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre hospitalier universitaire de Nantes (CHU Nantes), University of California [San Diego] (UC San Diego), University of California (UC), AP-HP Hôpital universitaire Robert-Debré [Paris], Hôpitaux Universitaire Saint-Louis, Lariboisière, Fernand-Widal, Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA), Observatoire National Français des patients atteints de DMFSH (FSHD registry - France), Institut de Biologie Paris Seine (IBPS), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Dyskinesias, Movement Disorders, Neurology, Caffeine, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Humans, Neurology (clinical), Child, Adenylyl Cyclases, Retrospective Studies
Abstract: ADCY5-related dyskinesia is characterized by early-onset movement disorders. There is currently no validated treatment, but anecdotal clinical reports and biological hypotheses suggest efficacy of caffeine.The aim is to obtain further insight into the efficacy and safety of caffeine in patients with ADCY5-related dyskinesia.A retrospective study was conducted worldwide in 30 patients with a proven ADCY5 mutation who had tried or were taking caffeine for dyskinesia. Disease characteristics and treatment responses were assessed through a questionnaire.Caffeine was overall well tolerated, even in children, and 87% of patients reported a clear improvement. Caffeine reduced the frequency and duration of paroxysmal movement disorders but also improved baseline movement disorders and some other motor and nonmotor features, with consistent quality-of-life improvement. Three patients reported worsening.Our findings suggest that caffeine should be considered as a first-line therapeutic option in ADCY5-related dyskinesia. © 2022 International Parkinson and Movement Disorder Society.
Published: 2022

8. Personality Assessment with Temperament and Character Inventory in Parkinson's Disease

Author: Mathilde Boussac, Christophe Arbus, Olivier Colin, Chloé Laurencin, Alexandre Eusebio, Elodie Hainque, Jean Christophe Corvol, Nathalie Versace, Olivier Rascol, Vanessa Rousseau, Estelle Harroch, Fabienne Ory-Magne, Margherita Fabbri, Caroline Moreau, Anne-Sophie Rolland, Béchir Jarraya, David Maltête, Sophie Drapier, Ana-Raquel Marques, Nicolas Auzou, Thomas Wirth, Mylène Meyer, Bruno Giordana, Mélissa Tir, Tiphaine Rouaud, David Devos, Christine Brefel-Courbon, Pr Luc Defebvre, Dr Nicolas Carriere, Dr Guillaume Grolez, Dr Guillaume Baille, Dr Kreisler, Pr Jean-Pierre Pruvo, Pr Leclerc, Dr Renaud Lopes, Dr Romain Viard, Dr Gregory Kuchcinski, Mr Julien Dumont, Pr Kathy Dujardin, Mme M. Delliaux, Mrs M. Brion, Dr Gustavo Touzet, Pr Nicolas Reyns, Pr Arnaud Delval, Mrs Valerie Santraine, Mrs Marie Pleuvret, Mrs Nolwen Dautrevaux, Mr Victor Laugeais, Thavarak Ouk, Camille Potey, Celine Leclercq, Elise Gers, Jean-Christophe Corvol, null Marie-Vidailhet, Marie-Laure Welter, Lucette Lacomblez, David Grabli, Emmanuel Roze, Yulia Worbe, Cécile Delorme, Hana You, Jonas Ihle, Raquel Guimeraes-Costa, Florence Cormier-Dequaire, Aurélie Méneret, Andréas Hartmann, Louise-Laure Mariani, Stéphane Lehericy, Virginie Czernecki, Fanny Pineau, Frédérique Bozon, Camille Huiban, Eve Benchetrit, Carine Karachi, Soledad Navarro, Philippe Cornu, Arlette Welaratne, Carole Dongmo-Kenfack, Lise Mantisi, Nathalie Jarry, Sophie Aix, Carine Lefort, Dr Tiphaine Rouaud, Pr Philippe Damier, Pr Pascal Derkinderen, Dr Anne-Gaelle Corbille, Dr Elisabeth Calvier-Auffray, Mrs Laetitia Rocher, Mrs Anne-Laure Deruet, Dr Raoul Sylvie, Dr Roualdes Vincent, Mrs Le Dily Séverine, Dr Ana Marques, Dr Berangere Debilly, Pr Franck Durif, Dr Philippe Derost, Dr Charlotte Beal, Carine Chassain, Laure Delaby, Tiphaine Vidal, Pr Jean Jacques Lemaire, Isabelle Rieu, Elodie Durand, Pr Alexandre Eusebio, Pr Jean-Philippe Azulay, Dr Tatiana Witjas, Dr Frédérique Fluchère, Dr Stephan Grimaldi, Pr Nadine Girard, Marie Delfini, Dr Romain Carron, Pr Jean Regis, Dr Giorgio Spatola, Camille Magnaudet, Dr Ansquer Solène, Dr Benatru Isabelle, Dr Colin Olivier, Pr Houeto Jl, Pr Guillevin Remy, Mrs Fradet Anne, Mrs Anziza Manssouri, Mrs Blondeau Sophie, Dr Richard Philippe, Dr Cam Philippe, Dr Page Philippe, Pr Bataille Benoit, Mrs Rabois Emilie, Mrs Guillemain Annie, Dr Drapier Sophie, Dr Frédérique Leh, Dr Alexandre Bonnet, Pr Marc Vérin, Dr Jean-Christophe Ferré, Mr Jean François Houvenaghel, Pr Claire Haegelen, Mrs Francoise Kestens, Mrs Solenn Ory, Pr Pierre Burbaud, Dr Nathalie Damon-Perriere, Pr Wassilios Meissner, Pr Francois Tison, Dr Stéphanie Bannier, Dr Elsa Krim, Pr Dominique Guehl, Sandrine Molinier-Blossier, Morgan Ollivier, Marion Lacoste, Marie Bonnet, Pr Emmanuel Cuny, Dr Julien Engelhardt, Olivier Branchard, Clotilde Huet, Julie Blanchard, Pr Rascol Olivier, Dr Christine Brefel Courbon, Dr Fabienne Ory Magne, Dr Marion Simonetta Moreau, Pr Christophe Arbus, Pr Fabrice Bonneville, Dr Jean Albert Lotterie, Marion Sarrail, Charlotte Scotto d’Apollonia, Pr Patrick Chaynes, Pr François Caire, Pr David Maltete, Dr Romain Lefaucheur, Dr Damien Fetter, Dr Nicolas Magne, Mrs Sandrine Bioux, Mrs Maud Loubeyre, Mrs Evangéline Bliaux, Mrs Dorothée Pouliquen, Pr Stéphane Derrey, Mrs Linda Vernon, Dr Frédéric Ziegler, Mathieu Anheim, Ouhaid Lagha-Boukbiza, Christine Tranchant, Odile Gebus, Solveig Montaut, S. Kremer, Nadine Longato, Clélie Phillips, Jimmy Voirin, Marie des Neiges Santin, Dominique Chaussemy, Dr Amaury Mengin, Dr Caroline Giordana, Dr Claire Marsé, Lydiane Mondot, Robin Kardous, Bernadette Bailet, Héloise Joly, Denys Fontaine, Dr Aurélie Leplus, Amélie Faustini, Vanessa Ferrier, Pr Pierre Krystkowiak, Dr Mélissa Tir, Pr Jean-Marc Constans, Sandrine Wannepain, Audrey Seling, Dr Michel Lefranc, Stéphanie Blin, Béatrice Schuler, Pr Stephane Thobois, Dr Teodor Danaila, Dr Chloe Laurencin, Pr Yves Berthezene, Dr Roxana Ameli, Helene Klinger, Dr Gustavo Polo, Patrick Mertens, A. Nunes, Elise Metereau, Dr Lucie Hopes, Dr Solène Frismand, Dr Emmanuelle Schmitt, Mrs Mylène Meyer, Mrs Céline Dillier, Pr Sophie Colnat, Mrs Anne Chatelain, Dr Jean- Philippe Brandel, Dr Cécile Hubsch, Dr Patte Karsenti, Dr Marie Lebouteux, Dr Marc Ziegler, Dr Christine Delmaire, Dr Julien Savatowky, Mrs Juliette Vrillac, Mrs Claire Nakache, Dr Vincent D'Hardemare, Mr Lhaouas Belamri, Dr Valérie Mesnage, Dr Cécilia Bonnet, Dr Jarbas Correa Lino, Dr Camille Decrocq, Dr Anne Boulin, Mrs Inès Barre, Mrs Jordane Manouvrier, Dr Bérénice Gardel, Pr Béchir Jarraya, Mrs Catherine Ziz, Mrs Lydie Prette, Mr Hassen Douzane, David Gay, Robin Bonicel, Fouzia El Mountassir, Clara Fischer, Jean-François Mangin, Marie Chupin, Yann Cointepas, Bertrand Accart, Patrick Gelé, Florine Fievet, Matthieu Chabel, Virginie Derenaucourt, Loïc Facon, Yanick Tchantchou Njosse, Dominique Deplanque, Alain Duhamel, Lynda Djemmane, Florence Duflot, Toulouse Neuro Imaging Center (ToNIC), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier de Brive-la-Gaillarde (CH Brive), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Lyon, Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), CHU Marseille, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), 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), Hôpital de la Fondation Ophtalmologique Adolphe de Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre d’Excellence en Maladies Neurodégénératives (NeuroToul), CIC - Biotherapie - Toulouse, Institut National de la Santé et de la Recherche Médicale (INSERM), Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Lille, Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Hôpital Foch [Suresnes], Neuroimagerie cognitive - Psychologie cognitive expérimentale (UNICOG-U992), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Différenciation et communication neuronale et neuroendocrine (DC2N), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), 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], Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA), Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA), CHU Bordeaux [Bordeaux], Les Hôpitaux Universitaires de Strasbourg (HUS), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), 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), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Amiens-Picardie, Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), Centre hospitalier universitaire de Nantes (CHU Nantes), This work was supported by the France Parkinson charity and French Ministry of Health (PHRC national 2012). This is an ancillary study to Protocol ID: 2013-A00193-42, ClinicalTrials.gov: NCT02360683., Centre Hospitalier Brive-la-Gaillarde, and Hôpital P.P.-Riquet
Subjects: Personality Inventory, Temperament and character inventory, Parkinson's disease, Parkinson Disease, Personality Assessment, Antidepressive Agents, Neurology, Anti-Anxiety Agents, Fluctuating PD patients, Quality of Life, Humans, Neurology (clinical), Geriatrics and Gerontology, Temperament, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Personality
Abstract: International audience; INTRODUCTION: There is a growing interest in personality evaluation in Parkinson's disease (PD), following observations of specific temperaments in PD patients. Therefore, our objective was to evaluate personality dimensions from the Temperament and Character Inventory (TCI) in a cohort of fluctuating PD patients considered for deep brain stimulation. METHODS: Fluctuating PD patients from the PREDISTIM cohort were included. Description of TCI dimensions and comparison with a French normative cohort were performed. Pearson correlations between TCI dimensions and motor, behavioral and cognitive variables were investigated. Structural and internal consistency analysis of the TCI were further assessed. RESULTS: The 570 PD patients presented significant higher scores in Harm Avoidance, Reward Dependence, Persistence, Self-Directedness and Cooperativeness and significant lower scores in Self-Transcendence compared to the French normative cohort; only Novelty Seeking scores were not different. Harm Avoidance and Self-directedness scores were correlated with PDQ-39 total, HAMD, HAMA scores, and anxiolytic/antidepressant treatment. Novelty Seeking scores were correlated with impulsivity. Pearson correlations between TCI dimensions, principal component analysis of TCI sub-dimensions and Cronbach's alpha coefficients showed adequate psychometric proprieties. CONCLUSION: The TCI seems to be an adequate tool to evaluate personality dimensions in PD with good structural and internal consistencies. These fluctuating PD patients also have specific personality dimensions compared to normative French population. Moreover, Harm Avoidance and Self-Directedness scores are associated with anxio-depressive state or quality of life and, and Novelty Seeking scores with impulsivity.
Published: 2022

9. Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

Author: Camille Giron, Emmanuel Roze, Bertrand Degos, Aurélie Méneret, Claude Jardel, Annie Lannuzel, and Fanny Mochel
Subjects: MEGDEL syndrome, SERAC1, Adult, Dystonia, Leigh syndrome, Neurology, Diseases of the musculoskeletal system, RC925-935, Neurology. Diseases of the nervous system, RC346-429
Abstract: Background: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset. Phenomenology Shown: Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome. Educational Value: Generalized dystonia may be the main manifestation of a milder form of MEGDEL syndrome, which begins during adulthood.
Published: 2018
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10. Highlighting the Dystonic Phenotype Related to GNAO1

Author: Thomas Wirth, Giacomo Garone, Manju A. Kurian, Amélie Piton, Francisca Millan, Aida Telegrafi, Nathalie Drouot, Gabrielle Rudolf, Jamel Chelly, Warren Marks, Lydie Burglen, Diane Demailly, Phillipe Coubes, Mayte Castro‐Jimenez, Sylvie Joriot, Jamal Ghoumid, Jérémie Belin, Jean‐Marc Faucheux, Lubov Blumkin, Mariam Hull, Mered Parnes, Claudia Ravelli, Gaëtan Poulen, Nadège Calmels, Andrea H. Nemeth, Martin Smith, Angela Barnicoat, Claire Ewenczyk, Aurélie Méneret, Emmanuel Roze, Boris Keren, Cyril Mignot, Christophe Beroud, Fernando Acosta, Catherine Nowak, William G. Wilson, Dora Steel, Alessandro Capuano, Marie Vidailhet, Jean‐Pierre Lin, Christine Tranchant, Laura Cif, Diane Doummar, Mathieu Anheim, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: [SDV.GEN]Life Sciences [q-bio]/Genetics, Dystonia, Movement Disorders, Phenotype, Neurology, Parkinsonian Disorders, Dystonic Disorders, Humans, Neurology (clinical), GTP-Binding Protein alpha Subunits, Gi-Go
Abstract: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.The aim was to characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders.We included patients diagnosed with GNAO1-related movement disorders of delayed onset (2 years). Patients experiencing either severe or profound intellectual disability or early-onset epileptic encephalopathy were excluded.Twenty-four patients and 1 asymptomatic subject were included. All patients showed dystonia as prominent movement disorder. Dystonia was focal in 1, segmental in 6, multifocal in 4, and generalized in 13. Six patients showed adolescence or adulthood-onset dystonia. Seven patients presented with parkinsonism and 3 with myoclonus. Dysarthria was observed in 19 patients. Mild and moderate ID were present in 10 and 2 patients, respectively.We highlighted a mild GNAO1-related phenotype, including adolescent-onset dystonia, broadening the clinical spectrum of this condition. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Published: 2022

11. De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia

Author: Thomas Wirth, Aurélie Méneret, Nathalie Drouot, Gabrielle Rudolf, Ouhaid Lagha Boukbiza, Jamel Chelly, Christine Tranchant, Amélie Piton, Emmanuel Roze, and Mathieu Anheim
Subjects: Dystonia, Neurology, Chorea, Mutation, Humans, Neurology (clinical)
Published: 2022

12. Somatotopy of cervical dystonia in motor-cerebellar networks: Evidence from resting state fMRI

Author: Marion Apoil Brissard, Cecile Gallea, Michael Rebsamen, Cecilia Bonnet, Aurélie Méneret, Clément Tarrano, Floriane Bouquet, Giuseppe Angelo Zito, Cécile Hubsch, Cécile Delorme, Sophie Sangla, Bertrand Degos, Benoît Béranger, Asya Ekmen, Marie Vidailhet, Emmanuel Roze, Yulia Worbe, and Prasanthi Jegatheesan
Subjects: Resting state fMRI, business.industry, medicine.disease, Magnetic Resonance Imaging, Basal Ganglia, Neurology, Dystonic Disorders, Cerebellum, medicine, Humans, Neurology (clinical), Cervical dystonia, Geriatrics and Gerontology, business, 610 Medicine & health, Neuroscience, Torticollis
Abstract: INTRODUCTION Cervical dystonia is the most frequent form of isolated focal dystonia. It is often associated with a dysfunction in brain networks, mostly affecting the basal ganglia, the cerebellum, and the somatosensory cortex. However, it is unclear if such a dysfunction is somato-specific to the brain areas containing the representation of the affected body part, and may thereby account for the focal expression of cervical dystonia. In this study, we investigated resting state functional connectivity in the areas within the motor cortex and the cerebellum containing affected and non-affected body representations in cervical dystonia patients. METHODS Eighteen patients affected by cervical dystonia and 21 healthy controls had resting state fMRI. The functional connectivity between the motor cortex and the cerebellum, as well as their corresponding measures of gray matter volume and cortical thickness, were compared between groups. We performed seed-based analyses, selecting the different body representation areas in the precentral gyrus as seed regions, and all cerebellar areas as target regions. RESULTS Compared to controls, patients exhibited increased functional connectivity between the bilateral trunk representation area of the motor cortex and the cerebellar vermis 6 and 7b, respectively. These functional abnormalities did not correlate with structural changes or symptom severity. CONCLUSIONS Our findings indicate that the abnormal function of the motor network is somato-specific to the areas encompassing the neck representation. Functional abnormalities in discrete relevant areas of the motor network could thus contribute to the focal expression of CD.
Published: 2022
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13. Treatable Hyperkinetic Movement Disorders Not to Be Missed

Author: Aurélie Méneret, Béatrice Garcin, Solène Frismand, Annie Lannuzel, Louise-Laure Mariani, Emmanuel Roze, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de neurologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), CHU Pointe-à-Pitre/Abymes [Guadeloupe], Université des Antilles - UFR des sciences médicales Hyacinthe Bastaraud (UA UFR SM), Université des Antilles (UA), Centre d'investigation clinique Antilles-Guyane (CIC - Antilles Guyane), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pointe-à-Pitre/Abymes [Guadeloupe] -CHU de la Martinique [Fort de France]-Centre Hospitalier Andrée Rosemon [Cayenne, Guyane Française], 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 = 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), HAL-SU, Gestionnaire, and Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU de la Martinique [Fort de France]-CHU Pointe-à-Pitre/Abymes [Guadeloupe] -Centre Hospitalier Andrée Rosemon [Cayenne, Guyane Française]
Subjects: medicine.medical_specialty, Movement disorders, Review, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, hyperkinetic, metabolic, medicine, 030212 general & internal medicine, RC346-429, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, autoimmune, treatable, 3. Good health, nervous system diseases, infectious, Neurology, movement disorders, Neurology. Diseases of the nervous system, Neurology (clinical), medicine.symptom, genetic, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; Hyperkinetic movement disorders are characterized by the presence of abnormal involuntary movements, comprising most notably dystonia, chorea, myoclonus, and tremor. Possible causes are numerous, including autoimmune disorders, infections of the central nervous system, metabolic disturbances, genetic diseases, drug-related causes and functional disorders, making the diagnostic process difficult for clinicians. Some diagnoses may be delayed without serious consequences, but diagnosis delays may prove detrimental in treatable disorders, ranging from functional disabilities, as in dopa-responsive dystonia, to death, as in Whipple's disease. In this review, we focus on treatable disorders that may present with prominent hyperkinetic movement disorders.
Published: 2021

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

Author: Nicolas Villain, Hélène Letrillart, Clara Virbel-Fleischman, Eavan McGovern, Pauline Dodet, Lise Mantisi, Emeline Berthelot, Elise Corsetti, Cécile Delorme, David Grabli, Emmanuel Roze, Elodie Hainque, Céline Louapre, Clément Tarrano, Mohamed Doulazmi, Florence Cormier-Dequaire, Yulia Worbe, Bertrand Degos, David Bendetowicz, Marie Vidailhet, Louise-Laure Mariani, Bruna Meira, Aurélie Méneret, Universidade de Lisboa = University of Lisbon (ULISBOA), Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-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 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), Hôpital Pierre Zobda-Quitman [CHU de la Martinique], CHU de la Martinique [Fort de France], 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), Service de Pathologies du sommeil [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Gestionnaire, HAL Sorbonne Université 5, Universidade de Lisboa (ULISBOA), Sorbonne Université (SU)-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 National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), 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], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service des Pathologies du sommeil [CHU Pitié-Salpêtrière], and 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)
Subjects: Quality of life, 0301 basic medicine, medicine.medical_specialty, Parkinson's disease, Disease, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Internal medicine, medicine, Term effect, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], RC346-429, business.industry, medicine.disease, humanities, 3. Good health, Discontinuation, Apomorphine, 030104 developmental biology, Neurology, Tolerability, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology. Diseases of the nervous system, Neurology (clinical), Life study, business, 030217 neurology & neurosurgery, medicine.drug
Abstract: Long-term effects of continuous subcutaneous apomorphine infusion (CSAI) on health-related quality of life (HRQoL) and predictors of CSAI discontinuation are poorly known. Data from consecutive advanced Parkinson’s disease patients treated in routine care were retrospectively collected over 24 months after CSAI initiation, with a focus on the 39-item Parkinson’s disease questionnaire (PDQ-39). We determined predictors of CSAI discontinuation and HRQoL improvement using multiple regression analysis. Of the 110 subjects evaluated over a 2-year period, 35% discontinued CSAI. Of those who continued treatment, HRQoL remained stable with a sustained reduction in motor fluctuations. The observed effect on dyskinesias was mild and transient. Of note, patients with preexisting impulse control disorders showed an overall good tolerability. PDQ-39 was the only baseline predictor of HRQoL improvement after 2 years of treatment. The presence of dyskinesias, poorer psychological status, shorter disease duration, male sex, and worse OFF state were predictors of discontinuation. Best candidates for CSAI are patients with: (i) poor baseline HRQoL and (ii) marked motor fluctuations.
Published: 2021

15. Sleep in ADCY5 -Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements

Author: Diane Doummar, Isabelle Arnulf, Aurélie Méneret, Florence Riant, Pauline Dodet, Smaranda Leu-Semenescu, Eavan McGovern, Jean-Baptiste Maranci, Valérie Fraix, Emmanuel Roze, Mathieu Anheim, Christine Tranchant, Asya Ekmen, Marie Vidailhet, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Hôpital Lariboisière-Fernand-Widal [APHP], 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), Hôpital de Hautepierre [Strasbourg], Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), CHU Grenoble, Institut des Neurosciences, and Université Joseph Fourier - Grenoble 1 (UJF)
Subjects: Pulmonary and Respiratory Medicine, medicine.medical_specialty, Movement disorders, genetic structures, Nocturnal, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, mental disorders, medicine, chorea, sleep, Dystonia, ADCY5, business.industry, Chorea, Paroxysmal dyskinesia, medicine.disease, Sleep in non-human animals, dyskinesia, 030228 respiratory system, Neurology, Dyskinesia, Cardiology, dystonia, Neurology (clinical), medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
Abstract: STUDY OBJECTIVES: ADCY5 mutations cause early-onset hyperkinetic movement disorders comprising diurnal and nocturnal paroxysmal dyskinesia, and patient-reported sleep fragmentation. We aimed to characterize all movements occurring during sleep and in the transition from sleep to awakening, to ascertain if there is a primary sleep disorder, or if the sleep disturbance is rather a consequence of the dyskinesia. METHODS: Using video polysomnography, we evaluated the nocturnal motor events and abnormal movements in 7 patients with ADCY5-related dyskinesia and compared their sleep measures with those of 14 age- and sex-matched healthy controls. RESULTS: We observed an increased occurrence of abnormal movements during wake periods compared to sleep in patients with ADCY5-related dyskinesia. While asleep, abnormal movements occurred more frequently during stage N2 and REM sleep, in contrast with stage N3 sleep. Abnormal movements were also more frequent during morning awakenings compared to wake periods before falling asleep. The pattern of the nocturnal abnormal movements mirrored those observed during waking hours. Compared to controls, patients with ADCY5-related dyskinesia had lower sleep efficiencies due to prolonged awakenings secondary to the abnormal movements, but no other differences in sleep measures. Notably, sleep onset latency was short and devoid of violent abnormal movements. CONCLUSIONS: In this series of patients with ADCY5-related dyskinesia, nocturnal paroxysmal dyskinesia were not associated with drowsiness or delayed sleep onset, but emerged during nighttime awakenings with subsequent delayed sleep, whereas sleep architecture was normal.
Published: 2019

16. The supplementary motor area modulates interhemispheric interactions during movement preparation

Author: Elodie Hainque, Cecilia Bonnet, Vanessa Brochard, Emmanuel Roze, Constance Flamand-Roze, Oriane Trouillard, Jean-Charles Lamy, Cecile Gallea, Stéphane Lehéricy, Isabelle Dusart, Romain Valabregue, Cécile Hubsch, Benoît Béranger, Traian Popa, Jean-Louis Golmard, Pierre Bitoun, Marie Vidailhet, Bertrand Degos, Norbert Brüggemann, Quentin Welniarz, Sabine Meunier, and Aurélie Méneret
Subjects: Adult, Male, Adolescent, Movement, medicine.medical_treatment, Intention, Mirror movements, Functional Laterality, 050105 experimental psychology, Hand movements, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Healthy volunteers, Coordinated movement, medicine, Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, Research Articles, Movement Disorders, Radiological and Ultrasound Technology, Supplementary motor area, Movement (music), business.industry, 05 social sciences, Motor Cortex, Middle Aged, Evoked Potentials, Motor, SMA, Magnetic Resonance Imaging, Transcranial Magnetic Stimulation, Healthy Volunteers, Transcranial magnetic stimulation, medicine.anatomical_structure, Neurology, Female, Neurology (clinical), Anatomy, business, Neuroscience, Psychomotor Performance, 030217 neurology & neurosurgery
Abstract: The execution of coordinated hand movements requires complex interactions between premotor and primary motor areas in the two hemispheres. The supplementary motor area (SMA) is involved in movement preparation and bimanual coordination. How the SMA controls bimanual coordination remains unclear, although there is evidence suggesting that the SMA could modulate interhemispheric interactions. With a delayed‐response task, we investigated interhemispheric interactions underlying normal movement preparation and the role of the SMA in these interactions during the delay period of unimanual or bimanual hand movements. We used functional MRI and transcranial magnetic stimulation in 22 healthy volunteers (HVs), and then in two models of SMA dysfunction: (a) in the same group of HVs after transient disruption of the right SMA proper by continuous transcranial magnetic theta‐burst stimulation; (b) in a group of 22 patients with congenital mirror movements (CMM), whose inability to produce asymmetric hand movements is associated with SMA dysfunction. In HVs, interhemispheric connectivity during the delay period was modulated according to whether or not hand coordination was required for the forthcoming movement. In HVs following SMA disruption and in CMM patients, interhemispheric connectivity was modified during the delay period and the interhemispheric inhibition was decreased. Using two models of SMA dysfunction, we showed that the SMA modulates interhemispheric interactions during movement preparation. This unveils a new role for the SMA and highlights its importance in coordinated movement preparation.
Published: 2019

17. Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement

Author: Aurélie Méneret, Manju A. Kurian, Michael C. Kruer, Alexander P. Drew, Niccolo E. Mencacci, Jean Madeleine de Sainte Agathe, Juliane Winkelmann, Lisa G. Riley, Sylvia Boesch, Saskia Biskup, Pedro Gonzalez-Alegre, Sheng Chih Jin, Janine Reunert, Sophie Reining, Kishore R. Kumar, Matthias Baumann, Riccardo Berutti, Fabienne Clot, Marie Vidailhet, Victor S.C. Fung, Thorsten Marquardt, Steven J. Lubbe, Robert Adam, Somayeh Bakhtiari, Tanya Bardakjian, Nicolas Derive, Ignacio Juan Keller Sarmiento, Michel Tchan, Michael Zech, Helmholtz Zentrum München = German Research Center for Environmental Health, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Concord Repatriation General Hospital, The University of Sydney, Garvan Institute of medical research, University Hospital Münster - Universitaetsklinikum Muenster [Germany] (UKM), Westmead Hospital [Sydney], Royal Brisbane & Women's Hospital, University of Queensland [Brisbane], Centre for Clinical Research [Brisbane], CeGaT GmbH, Barrow Neurological Institute, University of Arizona, Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Perelman School of Medicine, University of Pennsylvania, Northwestern University Feinberg School of Medicine, Institute of Child Health [London], University College of London [London] (UCL), Great Ormond Street Hospital for Children [London] (GOSH), Unité fonctionnelle de neurogénétique moléculaire et cellulaire, 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 = 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), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Munich Cluster for systems neurology [Munich] (SyNergy), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Ludwig-Maximilians-Universität München (LMU), Gestionnaire, Hal Sorbonne Université, Helmholtz-Zentrum München (HZM), Technische Universität München [München] (TUM), Garvan Institute of Medical Research [Darlinghurst, Australia], University of Pennsylvania [Philadelphia], 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), Innsbruck Medical University [Austria] (IMU), and Technische Universität München [München] (TUM)-Ludwig-Maximilians-Universität München (LMU)
Subjects: Proband, Movement disorders, AOPEP, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, rare disease, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Compound heterozygosity, loss-of-function variants, Aminopeptidases, Aopep, Genomic Analysis, Loss-of-function Variants, Monogenic Dystonia, Rare Disease, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, medicine, Humans, Exome, Allele, 030304 developmental biology, Dystonia, Genetics, 0303 health sciences, Parkinsonism, Proteolytic enzymes, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, medicine.disease, Pedigree, Phenotype, Neurology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Dystonic Disorders, genomic analysis, Mutation, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, monogenic dystonia
Abstract: BACKGROUND Monogenic causes of isolated dystonia are heterogeneous. Assembling cohorts of affected individuals sufficiently large to establish new gene-disease relationships can be challenging. OBJECTIVE We sought to expand the catalogue of monogenic etiologies for isolated dystonia. METHODS After the discovery of a candidate variant in a multicenter exome-sequenced cohort of affected individuals with dystonia, we queried online platforms and genomic data repositories worldwide to identify subjects with matching genotypic profiles. RESULTS Seven different biallelic loss-of-function variants in AOPEP were detected in five probands from four unrelated families with strongly overlapping phenotypes. In one proband, we observed a homozygous nonsense variant (c.1477C>T [p.Arg493*]). A second proband harbored compound heterozygous nonsense variants (c.763C>T [p.Arg255*]; c.777G>A [p.Trp259*]), whereas a third proband possessed a frameshift variant (c.696_697delAG [p.Ala234Serfs*5]) in trans with a splice-disrupting alteration (c.2041-1G>A). Two probands (siblings) from a fourth family shared compound heterozygous frameshift alleles (c.1215delT [p.Val406Cysfs*14]; c.1744delA [p.Met582Cysfs*6]). All variants were rare and expected to result in truncated proteins devoid of functionally important amino acid sequence. AOPEP, widely expressed in developing and adult human brain, encodes a zinc-dependent aminopeptidase, a member of a class of proteolytic enzymes implicated in synaptogenesis and neural maintenance. The probands presented with disabling progressive dystonia predominantly affecting upper and lower extremities, with variable involvement of craniocervical muscles. Dystonia was unaccompanied by any additional symptoms in three families, whereas the fourth family presented co-occurring late-onset parkinsonism. CONCLUSIONS Our findings suggest a likely causative role of predicted inactivating biallelic AOPEP variants in cases of autosomal recessive dystonia. Additional studies are warranted to understand the pathophysiology associated with loss-of-function variation in AOPEP. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Published: 2021

18. Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations Authors

Author: Florence Cormier, Timothée Lenglet, Alexis Brice, Jean-Christophe Corvol, Fabienne Clot, Vincent Deramecourt, Karl Mondon, Dario Saracino, Stéphane Thobois, Vincent Huin, Aurélie Méneret, Emilie Beaufils, Cécile Delorme, Audrey Gabelle, Fábio Carneiro, Marie Vidailhet, Isabelle Le Ber, Mélissa Tir, Marie-Odile Habert, Daniela Andriuta, 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), Algorithms, models and methods for images and signals of the human brain (ARAMIS), Sorbonne Université (SU)-Inria de Paris, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), 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)-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)-Centre National de la Recherche Scientifique (CNRS), Lille Neurosciences & Cognition - U 1172 (LilNCog (ex-JPARC)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), UF Neurométabolique Bioclinique et Génétique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-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 des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (CNC), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Laboratoire d'Imagerie Biomédicale (LIB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), 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 de Tours (UT), Service de neurologie [Amiens], CHU Amiens-Picardie, Excellence Laboratory LabEx DISTALZ, The research leading to these results received funding from the 'Investissements d'avenir' ANR-11-INBS-0011. This work was funded by the Programme Hospitalier de Recherche Clinique (PHRC) FTLD-exome (to ILB, promotion by Assistance Publique – Hôpitaux de Paris) and by PHRC Predict-PGRN (to ILB, promotion by Assistance Publique – Hôpitaux de Paris)., 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), Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Institut du Cerveau = Paris Brain Institute (ICM), 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)-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)-Centre National de la Recherche Scientifique (CNRS), Lille Neurosciences & Cognition - U 1172 (LilNCog), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (ISC-MJ), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Imagerie Biomédicale [Paris] (LIB), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), ANR-16-IDEX-0006,MUSE,MUSE(2016), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Gestionnaire, HAL Sorbonne Université 5, Service de neurologie 1 [CHU Pitié-Salpétrière], Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Université de Tours
Subjects: Male, 0301 basic medicine, Parkinson's disease, TDP-43, Disease, Bioinformatics, Progranulins, 0302 clinical medicine, C9orf72, Age of Onset, Family history, PSP, Parkinsonism, Parkinson Disease, FTD, Middle Aged, Pedigree, 3. Good health, Neurology, Frontotemporal Dementia, Neurons and Cognition (q-bio.NC), [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], FTLD, GRN, Frontotemporal dementia, CBS, 03 medical and health sciences, Parkinsonian Disorders, medicine, Humans, Dementia, Cognitive Dysfunction, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Aged, C9orf72 Protein, business.industry, medicine.disease, nervous system diseases, 030104 developmental biology, Quantitative Biology - Neurons and Cognition, FOS: Biological sciences, Mutation, Etiology, Neurology (clinical), Geriatrics and Gerontology, business, 030217 neurology & neurosurgery
Abstract: Introduction A phenotype of isolated parkinsonism mimicking Idiopathic Parkinson's Disease (IPD) is a rare clinical presentation of GRN and C9orf72 mutations, the major genetic causes of frontotemporal dementia (FTD). It still remains controversial if this association is fortuitous or not, and which clinical clues could reliably suggest a genetic FTD etiology in IPD patients. This study aims to describe the clinical characteristics of FTD mutation carriers presenting with IPD phenotype, provide neuropathological evidence of the mutation's causality, and specifically address their “red flags” according to current IPD criteria. Methods Seven GRN and C9orf72 carriers with isolated parkinsonism at onset, and three patients from the literature were included in this study. To allow better delineation of their phenotype, the presence of supportive, exclusion and “red flag” features from MDS criteria were analyzed for each case. Results Amongst the ten patients (5 GRN, 5 C9orf72), seven fulfilled probable IPD criteria during all the disease course, while behavioral/language or motoneuron dysfunctions occurred later in three. Disease duration was longer and dopa-responsiveness was more sustained in C9orf72 than in GRN carriers. Subtle motor features, cognitive/behavioral changes, family history of dementia/ALS were suggestive clues for a genetic diagnosis. Importantly, neuropathological examination in one patient revealed typical TDP-43-inclusions without alpha-synucleinopathy, thus demonstrating the causal link between FTD mutations, TDP-43-pathology and PD phenotype. Conclusion We showed that, altogether, family history of early-onset dementia/ALS, the presence of cognitive/behavioral dysfunction and subtle motor characteristics are atypical features frequently present in the parkinsonian presentations of GRN and C9orf72 mutations.
Published: 2020

19. Dyskinésie paroxystique kinésigénique et mutation de novo dans TMEM151A

Author: Thomas Wirth, Aurélie Méneret, Ouhaid Lagha-Boukbiza, Christine Tranchant, Piton Amélie, Emmanuel Flamand Roze, and Mathieu Anheim
Subjects: Neurology, Neurology (clinical)
Published: 2022

20. Delayed Benefit From Aggressive Immunotherapy in Waxing and Waning Anti-IgLON5 Disease

Author: Dimitri Psimaras, Isabelle Arnulf, Aurélie Méneret, Catherine Lubetzki, Daniel Zemba, Adèle Hesters, Bertrand Gaymard, Cécile Delorme, Clémence Marois, Jerome Servan, Pauline Shambrook, Jérôme Honnorat, Ana Gales, Fernando Pico, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire Yalgado Ouédraogo (CHUYO), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université - Département de neurologie 2 - Mazarin, and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP]
Subjects: Movement disorders, [SDV]Life Sciences [q-bio], medicine.medical_treatment, Cell Adhesion Molecules, Neuronal, Disease, 03 medical and health sciences, 0302 clinical medicine, Autoimmune Diseases of the Nervous System, Medicine, Humans, Immunologic Factors, 030212 general & internal medicine, Cognitive impairment, Clinical/Scientific Notes, business.industry, Immunotherapy, Middle Aged, Bulbar symptoms, Pathophysiology, 3. Good health, Neurology, Immunology, Encephalitis, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: International audience; Anti-IgLON5 disease is a rare disorder characterized by the variable association of movement disorders, sleep disturbances, cognitive impairment, bulbar symptoms, and respiratory dysfunction.1,2 Pathophysiology likely involves both autoimmune and neurodegenerative processes, and prognosis is considered to be poor.3,4 Here, we report a case with a waxing and waning course, who eventually responded well to aggressive and sustained immunotherapy.
Published: 2020

21. Systematic review of movement disorders and oculomotor abnormalities in Whipple's disease

Author: Aurélie Méneret, Anthony E. Lang, Melanie Anderson, David Grabli, Emmanuel Roze, and Julien Bally
Subjects: medicine.medical_specialty, Movement disorders, business.industry, Disease, medicine.disease, Oculomotor abnormalities, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pathognomonic, medicine, 030212 general & internal medicine, Neurology (clinical), Whipple's disease, medicine.symptom, Intensive care medicine, business, Myoclonus, 030217 neurology & neurosurgery, Confusion
Abstract: Whipple's disease, affecting the CNS, can cause a wide variety of symptoms. Movement disorders are very prevalent, and some are pathognomonic of the disease. This systematic review analyzed all published cases of movement disorders because of CNS Whipple's disease, providing detailed information on clinical and associated features. We have also attempted to address sources of confusion in the literature, particularly related to differing uses of the terminology of movement disorder. This comprehensive overview of Whipple's disease-induced movement disorders aims to aid neurologists in recognizing this very rare disorder and successfully reaching a laboratory-confirmed diagnosis in order to initiate appropriate therapy. © 2018 International Parkinson and Movement Disorder Society.
Published: 2018

22. Increased diagnostic yield in complex dystonia through exome sequencing

Author: Jamel Chelly, Cécile Laroche, Aurélie Méneret, Pierre Burbaud, Emmanuelle Ollivier, Marie-Aude Spitz, Cyril Mignot, Matthieu Bereau, Laurence Lion-François, Christine Tranchant, Mathieu Anheim, Emmanuel Roze, Diane Doummar, Laura Cif, Gabrielle Rudolf, Romain Lefaucheur, Stéphanie Bannier, Thomas Wirth, Domitille Gras, Nathalie Drouot, Vincent Laugel, Patrick Nitschke, Ouhaid Lagha-Boukbiza, Boris Keren, 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), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)
Subjects: 0301 basic medicine, Adult, Male, Movement disorders, [SDV]Life Sciences [q-bio], Bioinformatics, GNAO1, DNA sequencing, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Genetic Testing, Age of Onset, Exome, Exome sequencing, Aged, Dystonia, business.industry, High-Throughput Nucleotide Sequencing, Infant, medicine.disease, Reelin Protein, 030104 developmental biology, Phenotype, Neurology, Dystonic Disorders, Child, Preschool, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, Age of onset, business, 030217 neurology & neurosurgery, ADCK3
Abstract: A strategy based on targeted gene panel sequencing identifies possibly pathogenic variants in fewer than 20% of cases in early-onset and familial form of dystonia. By using Whole Exome Sequencing (WES), we aimed to identify the missing genetic causes in dystonic patients without diagnosis despite gene panel sequencing.WES was applied to DNA samples from 32 patients with early-onset or familial dystonia investigated by sequencing of a 127 movement disorders-associated gene panel. Dystonia was described according to the familial history, body distribution, evolution pattern, age of onset, associated symptoms and associated movement disorders. Rate of diagnoses was evaluated for each clinical feature.We identified causative variants for 11 patients from 9 families in CTNNB1, SUCLG1, NUS1, CNTNAP1, KCNB1, RELN, GNAO1, HIBCH, ADCK3 genes, yielding an overall diagnostic rate of 34.4%. Diagnostic yield was higher in complex dystonia compared to non-complex dystonia (66.7%-5.9%; p 0.002), especially in patients showing intellectual disability compared to the patients without intellectual disability (87.5%-16.7%; p 0.002).Our approach suggests WES as an efficient tool to improve the diagnostic yield after gene panel sequencing in dystonia. Larger study are warranted to confirm a potential genetic overlap between neurodevelopmental diseases and dystonia.
Published: 2019

23. GLUT1 Deficiency in a Patient Diagnosed as Cerebral Palsy: Is NGS a Valuable Tool to Be Considered in All Cases of CP to Detect Underlying Genetic Disorders?

Author: Emmanuel Roze and Aurélie Méneret
Subjects: Pediatrics, medicine.medical_specialty, Editorial Commentary, Neurology, business.industry, Medicine, Neurology (clinical), business, medicine.disease, Cerebral palsy
Published: 2019

24. The 'Neurological Hat Game': A fun way to learn the neurological semiology

Author: M.-C. Renaud, M Mongin, L.L. Mariani, Emmanuel Roze, Béatrice Garcin, Aurélie Méneret, Florence Cormier, Bertrand Degos, C Delorme, 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), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Centre interdisciplinaire de recherche en biologie (CIRB), Labex MemoLife, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS Paris), and Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, Pleasure, medicine.medical_specialty, Students, Medical, Teaching method, [SDV]Life Sciences [q-bio], Personal Satisfaction, Memorization, law.invention, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Games, Recreational, law, Terminology as Topic, Neural Pathways, medicine, Limbic System, Humans, Learning, 030212 general & internal medicine, Memory Consolidation, Medical education, 4. Education, Teaching, ComputingMilieux_PERSONALCOMPUTING, Sign (semiotics), Semiology, Standard 52-card deck, Neurology, Female, Neurology (clinical), Educational Measurement, Psychology, 030217 neurology & neurosurgery, Preliminary Data
Abstract: In-class courses are deserted by medical students who tend to find it more beneficial to study in books and through online material. New interactive teaching methods, such as serious games increase both performance and motivation. We developed and assessed a new teaching method for neurological semiology using the "Hat Game" as a basis.In this game, two teams of second-year medical students are playing against one another. The game is played with a deck of cards. A neurological symptom or sign is written on each card. Each team gets a predefined period of time to guess as many words as possible. One member is the clue-giver and the others are the guessers. There are three rounds: during the first round, the clue-giver uses any descriptive term he wants and as many as he wants to make his team guess the maximum number of words within the allocated time. During the second round, the clue-giver can only choose one clue-word and, during the third round, he mimes the symptom or sign. The team that has guessed the most cards wins the game. To assess the efficacy of this learning procedure, multiple choices questions (MCQs) were asked before and after the game. Exam results of second-year students on their final university Neurology exam were analyzed. A satisfaction survey was proposed to all participating students.Among 373 students, 121 volunteers (32.4%) were enrolled in the "Neurology Hat Game" and 112 attended the game. One hundred and seven of the 112 students completed the MCQs with a significant improvement in their responses after the game (P0.001). The 112 students who completed the satisfaction self-administered questionnaire were very satisfied with this funny new teaching method.Teaching neurological semiology via the "Hat Game" is an interesting method because it is student-centered, playful and complementary to the lecturer-centered courses. A randomized controlled study would be necessary to confirm these preliminary results.
Published: 2018

25. ‘The Move’, an innovative simulation-based medical education program using roleplay to teach neurological semiology: Students’ and teachers’ perceptions

Author: Aurélie Méneret, Emmanuel Roze, Sonia Alamowitch, Alexandre Duguet, Olivier Steichen, M.-C. Renaud, M. Ruiz, H. Le Liepvre, and Constance Flamand-Roze
Subjects: Adult, Male, medicine.medical_specialty, Faculty, Medical, Students, Medical, Neurology, Attitude of Health Personnel, media_common.quotation_subject, education, Neurological examination, Memorization, Simulation training, Young Adult, 03 medical and health sciences, Professional Role, 0302 clinical medicine, Inventions, Surveys and Questionnaires, Perception, medicine, Humans, 030212 general & internal medicine, Simulation Training, Simulation based, Curriculum, media_common, Medical education, Education, Medical, medicine.diagnostic_test, Role, Semiology, Patient Simulation, Feasibility Studies, Female, Neurology (clinical), Psychology, 030217 neurology & neurosurgery
Abstract: Introduction Neurological disorders are frequently being managed by general practitioners. It is therefore critical that future physicians become comfortable with neurological examination and physical diagnosis. Graduating medical students often consider neurological examination as one of the clinical skills they are least comfortable with, and they even tend to be neurophobic. One way to improve the learning of neurological semiology is to design innovative learner-friendly educational methods, including simulation training. Methods The feasibility of mime-based roleplaying was tested by a simulation training program in neurological semiology called ‘The Move’. The program was proposed to third-year medical students at Pierre and Marie Curie University in Paris during their neurology rotation. Students were trained to roleplay patients by miming various neurological syndromes (pyramidal, vestibular, cerebellar, parkinsonian) as well as distal axonopathy, chorea and tonic–clonic seizures. Using an anonymous self-administered questionnaire, the students’ and teachers’ emotional experience and views on the impact of the program were then investigated. Results A total of 223/365 students (61%) chose to participate in the study. Both students and teachers felt their participation was pleasant. Students stated that The Move increased their motivation to learn neurological semiology (78%), and improved both their understanding of the subject (77%) and their long-term memorization of the teaching content (86%). Although only a minority thought The Move was likely to improve their performance on their final medical examination (32%), a clear majority (77%) thought it would be useful for their future clinical practice. Both students (87%) and teachers (95%) thought The Move should be included in the medical curriculum. Conclusion Mime-based roleplaying simulation may be a valuable tool for training medical students in neurological semiology, and may also help them to overcome neurophobia.
Published: 2016

26. Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

Author: Giron, Camille, Roze, Emmanuel, Degos, Bertrand, Méneret, Aurélie, Jardel, Claude, Lannuzel, Annie, and Mochel, Fanny
Subjects: Male, Adult, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:Diseases of the musculoskeletal system, respiratory chain, mitochondrial DNA, Deafness, lcsh:RC346-429, MEGDEL, LHON, Nervous system--Degeneration, otorhinolaryngologic diseases, Humans, Longitudinal Studies, Letters, lcsh:Neurology. Diseases of the nervous system, Brain Diseases, FOS: Clinical medicine, Neurosciences, multisystem, Brain, nutritional and metabolic diseases, MEGDEL syndrome, Leigh syndrome, nervous system diseases, Dystonia, Neurology, Dystonic Disorders, SERAC1, Disease Progression, Leigh Disease, lcsh:RC925-935, Metabolism, Inborn Errors
Abstract: Background: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset. Phenomenology Shown: Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome. Educational Value: Generalized dystonia may be the main manifestation of a milder form of MEGDEL syndrome, which begins during adulthood., Tremor and Other Hyperkinetic Movements, Tremor and Other Hyperkinetic Movements
Published: 2018

27. A recessive ataxia diagnosis algorithm for the next generation sequencing era

Author: Renaud, Mathilde, Tranchant, Christine, Group, RADIAL Working, Alonso, Isabel, Azzedine, Hamid, Barbot, Clara, Bereau, Matthieu, Berkovic, Sam, Bernard, Geneviéve, Bindoff, Laurence A, Bompaire, Flavie, Bonneau, Dominique, Martin, Juan Vicente Torres, Bonneau, Patrizia, Boycott, Kym M, Bras, Jose, Brais, Bernard, Brigatti, Karlla W, Cameron, Jillian, Chamova, Teodora, Choquet, Karine, Delague, Valérie, Denizeau, Philippe, Mochel, Fanny, Dotti, Maria Teresa, El-Euch, Ghada, Elmalik, Salah A, Federico, Antonio, Fiskerstrand, Torunn, Gagnon, Cynthia, Guerreiro, Rita, Guissart, Claire, Hassin-Baer, Sharon, Heimdal, Ketil Riddervold, Synofzik, Matthis, Héron, Bénédicte, Isohanni, Pirjo, Kalaydijeva, Luba, Kawarai, Toshitaka, Koht, Jeanette Aimee, Lai, Szu-Chia, Piana, Roberta La, Lecocq, Claire, Linnankivi, Tarja, Lönnqvist, Tuula, van de Warrenburg, Bart, Lu, Chin-Song, Maas, Roderick, Mahlaoui, Nizar, Mallaret, Martial, Marelli, Cecilia, Mariotti, Caterina, Mathieu, Jean, Méneret, Aurélie, Mignarri, Andrea, Monin, Marie Lorraine, Pandolfo, Massimo, Montaut, Solveig, Nanetti, Lorenzo, Nadjar, Yann, Poujois, Aurélia, Salih, Mustafa A, Sousa, Sergio, Stanier, Philip, Stoppa-Lyonnet, Dominique, Strauss, Kevin, Tallaksen, Chantal, Koenig, Michel, Tarnopolsky, Mark, Tinant, Nadége, Tournev, Ivailo, Topaloglu, Haluk, Varhaug, Kristin Nielsen, Woimant, France, Wolf, Nicole I, Yahalom, Gilad, Yoon, Grace, Young, Millie, Kolb, Stefan A, Anheim, Mathieu, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [APHP], Hertie Institute for Clinical Brain Research and Center for Neurology, University of Tübingen, Radboud university [Nijmegen], Department of Neurology, Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB)-Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), School of Mathematics and Statistics, Newcastle University [Newcastle], Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital de Hautepierre [Strasbourg], Université de Strasbourg (UNISTRA), Service de génétique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service de génétique médicale [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Service de Génétique Cytogénétique et Embryologie [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), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)
Subjects: 0301 basic medicine, Male, [SDV]Life Sciences [q-bio], trends [High-Throughput Nucleotide Sequencing], Cohort Studies, 0302 clinical medicine, Diagnosis, Medical diagnosis, Child, ComputingMilieux_MISCELLANEOUS, genetics [Cerebellar Ataxia], medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, Autosomal recessive cerebellar ataxia, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], 3. Good health, diagnosis [Cerebellar Ataxia], Neurology, Child, Preschool, Female, medicine.symptom, Algorithm, Algorithms, methods [High-Throughput Nucleotide Sequencing], Ataxia, Cerebellar Ataxia, Context (language use), Diagnosis, Differential, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], medicine, Humans, Medical history, ddc:610, Preschool, Genetic testing, Cerebellar ataxia, business.industry, Infant, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Differential, Neurology (clinical), Differential diagnosis, business, 030217 neurology & neurosurgery
Abstract: International audience; OBJECTIVE: Differential diagnosis of autosomal recessive cerebellar ataxias can be challenging. A ranking algorithm named RADIAL that predicts the molecular diagnosis based on the clinical phenotype of a patient has been developed to guide genetic testing and to align genetic findings with the clinical context. METHODS: An algorithm that follows clinical practice, including patient history, clinical, magnetic resonance imaging, electromyography, and biomarker features, was developed following a review of the literature on 67 autosomal recessive cerebellar ataxias and personal clinical experience. Frequency and specificity of each feature were defined for each autosomal recessive cerebellar ataxia, and corresponding prediction scores were assigned. Clinical and paraclinical features of patients are entered into the algorithm, and a patient's total score for each autosomal recessive cerebellar ataxia is calculated, producing a ranking of possible diagnoses. Sensitivity and specificity of the algorithm were assessed by blinded analysis of a multinational cohort of 834 patients with molecularly confirmed autosomal recessive cerebellar ataxia. The performance of the algorithm was assessed versus a blinded panel of autosomal recessive cerebellar ataxia experts. RESULTS: The correct diagnosis was ranked within the top 3 highest-scoring diagnoses at a sensitivity and specificity of \textgreater90% for 84% and 91% of the evaluated genes, respectively. Mean sensitivity and specificity of the top 3 highest-scoring diagnoses were 92% and 95%, respectively. The algorithm outperformed the panel of ataxia experts (p = 0.001). INTERPRETATION: Our algorithm is highly sensitive and specific, accurately predicting the underlying molecular diagnoses of autosomal recessive cerebellar ataxias, thereby guiding targeted sequencing or facilitating interpretation of next-generation sequencing data. Ann Neurol 2017;82:892-899.
Published: 2017

28. Le jeu du chapeau : une manière amusante d’apprendre la neurologie

Author: Louise-Laure Mariani, Delorme Cécile, Bertrand Degos, Béatrice Garcin, Emmanuel Flamand-Roze, Florence Cormier, Marie Mongin, Marie-Christine Renaud, and Aurélie Méneret
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction En medecine, les cours facultaires sont desertes par les etudiants, qui preferent apprendre dans les livres. De nouvelles methodes d’enseignement interactives sont necessaires pour ameliorer les performances et la motivation. Objectifs Nous avons developpe et evalue une methode d’apprentissage de la semiologie neurologique basee sur le principe du jeu du chapeau. Patients et methodes Deux equipes d’etudiants jouent l’une contre l’autre. Un signe ou symptome est ecrit sur chaque carte d’une pile. Chaque equipe dispose d’un temps pre-defini pour faire deviner un maximum de mots a l’equipe adverse au cours de 3 manches : 1. par une description en utilisant tous les termes souhaites 2, avec un seul mot 3, en mimant le signe/symptome. Nous avons evalue l’efficacite de cette methode grâce a des QCM avant et apres l’enseignement, et par l’analyse des resultats aux examens de neurologie. Resultats Parmi 373 etudiants en 2e annee de medecine, 112 volontaires (32,4 %) ont participe au jeu du chapeau. Cent sept sur 112 etudiants ont complete les QCMs avant et apres l’enseignement avec une amelioration significative de leurs performances (p Discussion L’enseignement de la semiologie neurologique par le jeu du chapeau est une methode interessante car centree sur l’etudiant, amusante, et complementaire par rapport aux enseignements classiques. Notre etude presente de possibles biais de selection, et une etude controlee et randomisee serait interessante pour confirmer ces resultats preliminaires. Conclusion Le jeu du chapeau est une nouvelle methode d’enseignement efficace et amusante, qui peut etre utilisee pour l’apprentissage de la semiologie neurologique, mais qui peut egalement etre proposees pour l’enseignement d’autres specialites medicales.
Published: 2019

29. Myopathie des ceintures et ophtalmoplégie associées à deux nouvelles mutations du gène MYH2

Author: Edoardo Malfatti, Aurélie Méneret, John Rendu, Norma B. Romero, Tanya Stojkovic, Thierry Maisonobe, and Michela Bisciglia
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction Nous presentons 2 observations de myopathie reliee au gene MYH2, codant pour la chaine lourde de la myosine de type IIa, responsable de myopathies hereditaires associees a une ophtalmoplegie. Observation Le premier patient, âge de 54 ans, d’origine caucasienne, presente une ophtalmoplegie des l’âge de 40 ans, associee a un ptosis bilateral et a un deficit des ceintures lentement evolutif, apparu a 50 ans. Des vacuoles bordees et des inclusions peripheriques sont mises en evidence a l’histologie musculaire. L’etude genetique par sequencage d’exome permet d’identifier des variants faux-sens non encore repertories dans le gene MYH2. L’etude de segregation familiale est en faveur d’une transmission de type autosomique recessive. Le deuxieme patient, âge de 57 ans, d’origine Sri-Lankaise, presente une ophtalmoplegie, associee a un ptosis apparu vers 30 ans. A 40 ans un deficit des ceintures complete le tableau clinique. La biopsie musculaire montre des agregats mitochondriaux a localisation sous-sarcolemmale. L’analyse moleculaire identifie deux variants dans le gene MYH2 predits comme pathogenes, de transmission autosomique recessive. Discussion Les mutations du gene MYH2 sont responsables de rares tableaux cliniques de myopathie congenitale de transmission autosomique dominante ou recessive, avec ophtalmoplegie et faiblesse diffuse et peu evolutive. Le role causal du gene MYH2 chez nos patients est corrobore par le phenotype clinique, la segregation familiale, la rarete dans la population generale des variants retrouves et leur role predit comme pathogene. Conclusion Le debut tardif des manifestations chez nos patients est atypique et contribue a etendre le spectre clinique des myopathies liees aux mutations MYH2 recessives au-dela des formes congenitales classiques.
Published: 2019

30. PRRT2mutations and paroxysmal disorders

Author: C. Gaudebout, Aurélie Méneret, Christel Depienne, Marie Vidailhet, Emmanuel Roze, and Florence Riant
Subjects: Episodic ataxia, Benign familial infantile epilepsy, business.industry, Migraine Disorders, Membrane Proteins, Nerve Tissue Proteins, PRRT2 Gene, Paroxysmal dyskinesia, medicine.disease, Epilepsy, Benign Neonatal, Epilepsy, Phenotype, Neurology, Migraine, Chorea, Seizures, Mutation, medicine, Animals, Humans, Neurology (clinical), business, Neuroscience, PRRT2, Loss function
Abstract: In the past year, mutations in the PRRT2 gene have been identified in patients with paroxysmal kinesigenic dyskinesia and other paroxysmal disorders. We conducted a review of the literature on PRRT2 mutation-associated disorders. Our objectives were to describe the wide clinical spectrum associated with PRRT2 mutations, and to present the current hypotheses on the underlying pathophysiology. PRRT2 mutations are associated with a wide range of clinical syndromes: the various paroxysmal dyskinesias, infantile seizures, paroxysmal torticollis, migraine, hemiplegic migraine, episodic ataxia and even intellectual disability in the homozygous state. The PRRT2 protein, through its interaction with SNAP-25, could play a role in synaptic regulation in the cortex and the basal ganglia. The pathogenesis may be caused by PRRT2 loss of function, which may induce synaptic deregulation and neuronal hyperexcitability. However, this does not explain the phenotypic variability, which is likely modulated by environmental factors, modifier genes or age-dependent expression. The clinical spectrum of PRRT2 mutations has expanded among paroxysmal disorders and beyond. Unraveling the molecular pathways linking the genetic defect to its clinical expression will be crucial for the diagnosis and treatment of these disorders.
Published: 2013

31. Paroxysmal movement disorders: An update

Author: Emmanuel Roze and Aurélie Méneret
Subjects: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Ataxia, Movement disorders, Choreiform movement, Diagnostic Techniques, Neurological, Nerve Tissue Proteins, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Chorea, Terminology as Topic, medicine, Humans, Episodic ataxia, business.industry, Paroxysmal dyskinesia, medicine.disease, 030104 developmental biology, PNKD, Neurology, Dyskinesia, Mutation, Neurology (clinical), medicine.symptom, business, Neuroscience, 030217 neurology & neurosurgery, PRRT2
Abstract: Paroxysmal movement disorders comprise both paroxysmal dyskinesia, characterized by attacks of dystonic and/or choreic movements, and episodic ataxia, defined by attacks of cerebellar ataxia. They may be primary (familial or sporadic) or secondary to an underlying cause. They can be classified according to their phenomenology (kinesigenic, non-kinesigenic or exercise-induced) or their genetic cause. The main genes involved in primary paroxysmal movement disorders include PRRT2, PNKD, SLC2A1, ATP1A3, GCH1, PARK2, ADCY5, CACNA1A and KCNA1. Many cases remain genetically undiagnosed, thereby suggesting that additional culprit genes remain to be discovered. The present report is a general overview that aims to help clinicians diagnose and treat patients with paroxysmal movement disorders.
Published: 2016

32. ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity

Author: Aurélie Méneret, Dong-Hui Chen, Thomas D. Bird, Jennifer Friedman, Emmanuel Roze, and Wendy H. Raskind
Subjects: 0301 basic medicine, medicine.medical_specialty, ADCY5, Extramural, business.industry, MEDLINE, Chorea, Dermatology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Text mining, Neurology, Dyskinesia, medicine, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Published: 2016

33. Phénotype inhabituel d’une maladie de Creutzfeldt-Jakob d’origine génétique

Author: Jean-Philippe Brandel, Carole Azuar, Richard Levy, Louis Cousyn, Stéphane Epelbaum, Aurélie Méneret, and David Grabli
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction La presentation atypique des formes genetiques de maladie de Creutzfeldt-Jakob (MCJ), en comparaison aux formes sporadiques, peut engendrer un retard diagnostique. Observation Nous rapportons le cas d’un patient de 39 ans, sans antecedent personnel ni familial, ayant installe sur 3 mois une amnesie hippocampique isolee d’aggravation rapidement progressive. Il ne presente pas de syndrome pyramidal, extrapyramidal ou cerebelleux. On ne note que de discretes myoclonies des extremites sous fluoxetine. Les IRM initiales sont normales, sans anomalie corticale ou du striatum en particulier. Les EEG repetes n’objectivent que des anomalies lentes theta diffuses sans complexe triphasique. L’analyse du LCR est sans particularite, avec une proteine 14.3.3 negative. La proteine Tau totale revient tres elevee a 1927 pg/mL (proteine phospho-tau et peptide beta amyloide normaux). Une mutation G114V du gene PRNP est mise en evidence a l’etat heterozygote. Le patient est decede apres 9 mois d’evolution. Discussion Un âge de debut plus precoce, une evolution plus lente et un tableau clinique polymorphe dependant de la mutation sont decrits dans les formes genetiques. L’IRM et l’EEG sont egalement plus souvent normaux. Certaines etudes tendent a montrer une meilleure specificite et sensibilite de la proteine Tau totale que la proteine 14.3.3 dans le LCR. Conclusion Les formes genetiques de MCJ peuvent se caracteriser par une clinique atypique et polymorphe, l’absence d’anomalies evocatrices IRM et EEG, et une proteine 14.3.3 negative dans le LCR.
Published: 2018

34. The multiple faces of the ATP1A3 -related dystonic movement disorder

Author: Aurélie Méneret, Bertrand Fontaine, Bertrand Philibert, Diane Doummar, Sandrine Vuillaumier-Barrot, Marie-Joséphine Fontenille, Marie Vidailhet, A Roubergue, Sophie Nicole, Emmanuel Roze, and Florence Riant
Subjects: Adult, Male, Adolescent, Movement (music), business.industry, Hemiplegia, Parkinson Disease, Middle Aged, Polymerase Chain Reaction, Young Adult, Neurology, Dystonic Disorders, Child, Preschool, Mutation, Humans, Medicine, Family, Female, Neurology (clinical), Age of Onset, Sodium-Potassium-Exchanging ATPase, business, Cognitive psychology
Published: 2013

35. ADCY5mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias

Author: Aurélie Méneret, Jennifer Friedman, Oriane Trouillard, Marie Vidailhet, Emmanuel Roze, Wendy H. Raskind, and Dong Hui Chen
Subjects: 0301 basic medicine, medicine.medical_specialty, ADCY5, business.industry, Adenylyl Cyclases, 3. Good health, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Internal medicine, medicine, Neurology (clinical), business, Psychiatry, Veterans Affairs, 030217 neurology & neurosurgery
Abstract: This work was supported by a research support provided by Merz-Pharma. Dr. Roze is the recipient of a grant “poste d'accueil” AP-HP/CNRS. Dr Meneret is the recipient of a grant from JNLF. Support was also received from NIH R01NS069719 (Drs. Raskind and Chen) and the Department of Veterans Affairs (Dr. Raskind).
Published: 2015

36. Generalized dystonia, athetosis, and parkinsonism associated with FOXG1 mutation

Author: Aurélia Jacquette, Emmanuel Roze, Cyril Mignot, Marie Vidailhet, Isabelle An, Aurélie Méneret, Thierry Bienvenu, and Marie-Odile Habert
Subjects: Involuntary movement, Dystonia, Athetosis, Pediatrics, medicine.medical_specialty, business.industry, Parkinsonism, Neurological disorder, medicine.disease, FOXG1, Neurology, Generalized dystonia, Mutation (genetic algorithm), medicine, Neurology (clinical), business, Neuroscience
Published: 2011

37. Congenital mirror movements: no mutation in DNAL4 in 17 index cases

Author: Christel Depienne, Emmanuel Roze, Oriane Trouillard, Marie Vidailhet, and Aurélie Méneret
Subjects: Sanger sequencing, Genetics, Male, Candidate gene, Movement Disorders, Axonemal Dyneins, Biology, Mirror movements, DNA sequencing, symbols.namesake, Neurology, Genetic linkage, Mutation (genetic algorithm), Mutation, symbols, Humans, Female, Neurology (clinical), Gene, Index case
Abstract: Mirror movements are involuntary movements of one side of the body that mirror intentional movements on the opposite side [1]. Affected subjects have a disorganized motor system and are unable to perform purely unimanual movements or skilled dissociated movements of the two hands [2, 3]. Isolated congenital mirror movements (CMM) constitute a rare disorder characterized by mirror movements that persist throughout adulthood, without any additional manifestation. Research on CMM is a fast moving field which has recently gained attention with several breakthroughs in the past few years [2–6]. After DCC and RAD51, implicated in both autosomal dominant CMM and simplex cases [4–6], homozygous mutations in the dynein axonemal light chain 4 gene (DNAL4) were recently reported in a single family with congenital mirror movements (CMM) [7]. DNAL4 is potentially responsible for an autosomal recessive form of the disease, which might suggest its implication in some simplex cases. However, Sanger sequencing of DNAL4 in 2 familial (albeit with autosomal dominant inheritance) and 11 simplex cases did not identify any mutation [7]. These 13 index cases had previously been screened for DCC and RAD51 abnormalities. In the absence of identification of DNAL4 mutations in another family, the implication of this gene in CMM cannot be definitely confirmed. We thus aimed to determine whether DNAL4 mutations may be found in other cases of CMM, particularly in sporadic cases. We previously screened DCC and RAD51 in 26 index cases. No mutation or rearrangement of either of these genes was found in two of six familial cases and 12 of 20 simplex cases [6], and in another family reported previously [5]. We screened the DNAL4 gene in these 15 index cases, and in two novel simplex cases without mutation in either gene (for a total of 3 familial cases with autosomal dominant inheritance and 14 sporadic cases). Sanger sequencing of the coding and flanking intronic regions of DNAL4 was performed using the primers provided by Ahmed et al. [7]. We did not find any variant of DNAL4 in the 17 index cases. Counting the 13 cases screened by Ahmed et al. [7], a total of 30 independent non-DCC non-RAD51 CMM cases have now been tested for DNAL4 mutations, and yet none have been identified, other than in the original family. Although linkage analysis, next generation sequencing and Sanger sequencing did not find another candidate gene in the original family, the possibility of a causative mutation in untranslated, intronic or intergenic regions, as well as A. Meneret (&) O. Trouillard M. Vidailhet C. Depienne E. Roze Inserm, U 1127, 75013 Paris, France e-mail: aurelie.meneret@icm-institute.org
Published: 2014

38. GLUT1 deficiency syndrome: an update

Author: Fanny Mochel, Marie Vidailhet, T. Billette de Villemeur, Emmanuel Roze, Diane Doummar, D. Gras, Aurélie Méneret, and S. Caillet
Subjects: medicine.medical_specialty, Microcephaly, Monosaccharide Transport Proteins, medicine.medical_treatment, Bioinformatics, Epilepsy, Internal medicine, medicine, Humans, Generalized epilepsy, Triglycerides, Glucose Transporter Type 1, biology, Thioctic Acid, business.industry, Glucose transporter, medicine.disease, Endocrinology, Phenotype, Neurology, Dyskinesia, biology.protein, GLUT1, Neurology (clinical), medicine.symptom, business, Diet, Ketogenic, Ketogenic diet, Carbohydrate Metabolism, Inborn Errors
Abstract: Introduction Glucose transporter type 1 deficiency syndrome is caused by heterozygous, mostly de novo, mutations in the SLC2A1 gene encoding the glucose transporter GLUT1. Mutations in this gene limit brain glucose availability and lead to cerebral energy deficiency. State of the art The phenotype is characterized by the variable association of mental retardation, acquired microcephaly, complex motor disorders, and paroxysmal manifestations including seizures and non-epileptic paroxysmal episodes. Clinical severity varies from mild motor dysfunction to severe neurological disability. In patients with mild phenotypes, paroxysmal manifestations may be the sole manifestations of the disease. In particular, the diagnosis should be considered in patients with paroxysmal exercise-induced dyskinesia or with early-onset generalized epilepsy. Low CSF level of glucose, relative to blood level, is the best biochemical clue to the diagnosis although not constantly found. Molecular analysis of the SLC2A1 gene confirms the diagnosis. Ketogenic diet is the cornerstone of the treatment and implicates a close monitoring by a multidisciplinary team including trained dieticians. Non-specific drugs may be used as add-on symptomatic treatments but their effects are often disappointing. Conclusion Glucose transporter type 1 deficiency syndrome is likely under diagnosed due to its complex and pleiotropic phenotype. Proper identification of the affected patients is important for clinical practice since the disease is treatable.
Published: 2013

39. Congenital mirror movements: a clue to understanding bimanual motor control

Author: Christel Depienne, Cecile Gallea, Emmanuel Roze, Traian Popa, Ségolène Billot, and Aurélie Méneret
Subjects: Movement Disorders, Deleted in Colorectal Cancer, Kallmann syndrome, Motor control, Motor Activity, Corpus callosum, medicine.disease, Pathogenesis, Neurology, Neuroimaging, Corticospinal tract, medicine, Animals, Humans, Neurology (clinical), Psychology, Neuroscience, Pathological
Abstract: Mirror movements (MM) are involuntary movements of one side of the body that accompany and mirror intentional movements on the opposite side. Physiological MM can occur during normal childhood development, probably owing to corpus callosum immaturity. Pathological congenital MM may be clinically isolated or part of a complex congenital syndrome, including Kallmann syndrome, Klippel-Feil syndrome, and congenital hemiplegia. Congenital isolated MM are usually familial. Recently, heterozygous mutations of the DCC gene, with autosomal dominant inheritance, were shown to cause some cases of MM. The pathogenesis of congenital MM may involve (i) abnormal interhemispheric inhibition between the two motor cortices; (ii) functional alteration of motor planning and motor execution; and/or (iii) abnormal persistence of the ipsilateral corticospinal tract. Fundamental and clinical research is providing novel insights into the complex underlying molecular pathways, and recent experimental work has identified several mechanisms that may mediate the motor network dysfunction. In this review, we analyze clinical, genetic, neurophysiologic, and neuroimaging data on congenital MM, and discuss how this knowledge may improve our understanding of bimanual motor control.
Published: 2011

40. Spectre des mouvements anormaux chez les adultes atteints d’ataxie télangiectasie

Author: Aurélie Méneret, Mathieu Anheim, D Stopppa-Lyonnet, Emmanuelle Apartis, Y Beaugendre, N Malahoui, and David Grabli
Subjects: Neurology, Neurology (clinical)
Published: 2014

41. Miming neurological syndromes improves medical student's long-term retention and delayed recall of neurology.

Author: Roze, Emmanuel, Worbe, Yulia, Louapre, Céline, Méneret, Aurélie, Delorme, Cécile, McGovern, Eavan, Ruiz, Marta, Capron, Jean, Le Bouc, Raphaël, Epelbaum, Stéphane, Alamowitch, Sonia, Duguet, Alexandre, Renaud, Marie-Christine, Palombi, Olivier, Pringsheim, Tamara M., Flamand-Roze, Constance, and Steichen, Olivier
Subjects: *NEUROLOGICAL disorders, *MEDICAL students, *NEUROLOGY, *NEUROLOGY education, *PERIODIC health examinations, *PATIENTS
Abstract: Basic examination and diagnostic skills in neurology are important for every graduating medical student. However, a majority of medical students consider neurology as complex and difficult to master. We evaluate the impact a learner-friendly, innovative simulation-based training programme has on long-term retention and delayed recall of neurological semiology amongst third-year medical students from the University Pierre et Marie Curie in Paris, France. The 2013 class received standard teaching in neurological semiology. The 2015 class who received the same standard teaching in neurological semiology were also invited to voluntarily participate in The Move , a mime-based role-play training programme of neurological semiology. During the Move , students were trained to simulate a patient with a neurological syndrome or the physician examining the patient. Students were evaluated with an assessment thirty months after their neurological rotation, including 15 questions to evaluate long-term retention of neurological semiology, and 10 to test background knowledge in general semiology. The semiology test was performed by 366/377 students from the 2013 class (standard education group) and by 272/391 students from the 2015 class, among which 186 participated in The Move ( The Move group) and 86 did not (standard education group). The mean neurological semiology score was higher in the 2015 class compared to the 2013 class ( p  = 0.007) and remained so after adjustment for the general semiology performance ( p  = 0.003). The adjusted mean neurological semiology score was 1.21/15 points higher [95% CI 0.66, 1.75] in The Move group compared to the standard education group, corresponding to a 14% better ranking. The Move programme improves medical student's long-term retention and delayed recall of neurological semiology. This learner-friendly interactive teaching may in turn enhance clinical proficiency of future physicians in neurological semiology. [ABSTRACT FROM AUTHOR]
Published: 2018
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