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1. Sustained reduction of essential tremor with low-power non-thermal transcranial focused ultrasound stimulations in humans

Author: Thomas Bancel, Benoît Béranger, Maxime Daniel, Mélanie Didier, Mathieu Santin, Itay Rachmilevitch, Yeruham Shapira, Mickael Tanter, Eric Bardinet, Sara Fernandez Vidal, David Attali, Cécile Galléa, Alexandre Dizeux, Marie Vidailhet, Stéphane Lehéricy, David Grabli, Nadya Pyatigorskaya, Carine Karachi, Elodie Hainque, and Jean-François Aubry
Subjects: Transcranial ultrasound stimulation, Essential tremor, Skull aberration correction, MR-Guidance, Accelerometry, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract: Background: Transcranial ultrasound stimulation (TUS) is a non-invasive brain stimulation technique; when skull aberrations are compensated for, this technique allows, with millimetric accuracy, circumvention of the invasive surgical procedure associated with deep brain stimulation (DBS) and the limited spatial specificity of transcranial magnetic stimulation. Objective: /hypothesis: We hypothesize that MR-guided low-power TUS can induce a sustained decrease of tremor power in patients suffering from medically refractive essential tremor. Methods: The dominant hand only was targeted, and two anatomical sites were sonicated in this exploratory study: the ventral intermediate nucleus of the thalamus (VIM) and the dentato-rubro-thalamic tract (DRT). Patients (N = 9) were equipped with MR-compatible accelerometers attached to their hands to monitor their tremor in real-time during TUS. Results: VIM neurostimulations followed by a low-duty cycle (5 %) DRT stimulation induced a substantial decrease in the tremor power in four patients, with a minimum of 89.9 % reduction when compared with the baseline power a few minutes after the DRT stimulation. The only patient stimulated in the VIM only and with a low duty cycle (5 %) also experienced a sustained reduction of the tremor (up to 93.4 %). Four patients (N = 4) did not respond. The temperature at target was 37.2 ± 1.4 °C compared to 36.8 ± 1.4 °C for a 3 cm away control point. Conclusions: MR-guided low power TUS can induce a substantial and sustained decrease of tremor power. Follow-up studies need to be conducted to reproduce the effect and better to understand the variability of the response amongst patients. MR thermometry during neurostimulations showed no significant thermal rise, supporting a mechanical effect.
Published: 2024
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2. Long-term effect of apomorphine infusion in advanced Parkinson’s disease: a real-life study

Author: Bruna Meira, Bertrand Degos, Elise Corsetti, Mohamed Doulazmi, Emeline Berthelot, Clara Virbel-Fleischman, Pauline Dodet, Aurélie Méneret, Louise-Laure Mariani, Cécile Delorme, Florence Cormier-Dequaire, David Bendetowicz, Nicolas Villain, Clément Tarrano, Lise Mantisi, Hélène Letrillart, Céline Louapre, Eavan McGovern, Yulia Worbe, David Grabli, Marie Vidailhet, Elodie Hainque, and Emmanuel Roze
Subjects: Neurology. Diseases of the nervous system, RC346-429
Abstract: 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
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3. Personality dimensions of patients can change during the course of parkinson's disease.

Author: Mathilde Boussac, Christophe Arbus, Julia Dupouy, Estelle Harroch, Vanessa Rousseau, Aurélie Croiset, Fabienne Ory-Magne, Olivier Rascol, Caroline Moreau, Anne-Sophie Rolland, David Maltête, Tiphaine Rouaud, Mylène Meyer, Sophie Drapier, Bruno Giordana, Mathieu Anheim, Elodie Hainque, Béchir Jarraya, Isabelle Benatru, Nicolas Auzou, Lhaouas Belamri, Mélissa Tir, Ana-Raquel Marques, Stephane Thobois, Alexandre Eusebio, Jean Christophe Corvol, David Devos, Christine Brefel-Courbon, and PREDI-STIM study group
Subjects: Medicine, Science
Abstract: BackgroundStudies assessing personality dimensions by the "Temperament and Character Inventory" (TCI) have previously found an association between Parkinson's disease (PD) and lower Novelty Seeking and higher Harm Avoidance scores. Here, we aimed to describe personality dimensions of PD patients with motor fluctuations and compare them to a normative population and other PD populations.MethodsAll PD patients awaiting Deep Brain Stimulation (DBS) answered the TCI before neurosurgery. Their results were compared to those of historical cohorts (a French normative population, a de novo PD population, and a PD population with motor fluctuations).ResultsMost personality dimensions of our 333 included PD patients with motor fluctuations who are candidates for DBS were different from those of the normative population and some were also different from those of the De Novo PD population, whereas they were similar to those of another population of PD patients with motor fluctuations.ConclusionsDuring the course of PD, personality dimensions can change in parallel with the development of motor fluctuations, either due to the evolution of the disease and/or dopaminergic treatments.
Published: 2021
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4. Experimental Testing of Passive Linear TMD for Postural Tremor Attenuation

Author: Sarah Gebai, Mohammad Hammoud, Gwendal Cumunel, Gilles Foret, Emmanuel Roze, and Elodie Hainque
Subjects: postural tremor, experimental arm, passive tuned mass damper, signal processing, experimental testing, Technology, Engineering (General). Civil engineering (General), TA1-2040, Biology (General), QH301-705.5, Physics, QC1-999, Chemistry, QD1-999
Abstract: Research interest to provide a mechanical solution for involuntary tremors is increasing due to the severe side effects caused by the medications used to lessen its symptoms. This paper deals with the design of a cantilever-type tuned mass damper (TMD) used to prove the effectiveness of passive controllers in reducing the involuntary tremor’s vibrational signals transmitted by the muscles to the hand segment. TMD is tested on an experimental arm, reflecting the flexion-extension motion of the wrist, excited by a mechanical shaker with the measured tremor signal of a patient with essential tremor. The designed TMD provides a new operational frequency for each position of the screw fixed to its beam. Modal damping ratios are also calculated using different methods for each position. The effectiveness of the TMD is quantified by measurements using a vibrometer and inertial measurement unit. Three TMDs, representing 15.7% total mass ratio, cause a reduction of 29% for the acceleration, 69% for the velocity, 79% for the displacement, 67% for the angular velocity, and 82% for the angular displacement signals. These encouraging results will allow the improvement of the design of the passive controller in the form of a wearable bracelet suitable for daily life.
Published: 2021
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5. A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood

Author: Elodie Hainque, Samantha Caillet, Sandrine Leroy, Constance Flamand-Roze, Isaac Adanyeguh, Fanny Charbonnier-Beaupel, Maryvonne Retail, Benjamin Le Toullec, Mariana Atencio, Sophie Rivaud-Péchoux, Vanessa Brochard, Florence Habarou, Chris Ottolenghi, Florence Cormier, Aurélie Méneret, Marta Ruiz, Mohamed Doulazmi, Anne Roubergue, Jean-Christophe Corvol, Marie Vidailhet, Fanny Mochel, and Emmanuel Roze
Subjects: Alternating hemiplegia of childhood, Triheptanoin, Crossover trial, Medicine
Abstract: Abstract Background Based on the hypothesis of a brain energy deficit, we investigated the safety and efficacy of triheptanoin on paroxysmal episodes in patients with alternating hemiplegia of childhood due to ATP1A3 mutations. Methods We conducted a randomized, double-blind, placebo-controlled crossover study of triheptanoin, at a target dose corresponding to 30% of daily calorie intake, in ten patients with alternating hemiplegia of childhood due to ATP1A3 mutations. Each treatment period consisted of a 12-week fixed-dose phase, separated by a 4-week washout period. The primary outcome was the total number of paroxysmal events. Secondary outcomes included the number of paroxysmal motor-epileptic events; a composite score taking into account the number, severity and duration of paroxysmal events; interictal neurological manifestations; the clinical global impression-improvement scale (CGI-I); and safety parameters. The paired non-parametric Wilcoxon test was used to analyze treatment effects. Results In an intention-to-treat analysis, triheptanoin failed to reduce the total number of paroxysmal events (p = 0.646), including motor-epileptic events (p = 0.585), or the composite score (p = 0.059). CGI-I score did not differ between triheptanoin and placebo periods. Triheptanoin was well tolerated. Conclusions Triheptanoin does not prevent paroxysmal events in Alternating hemiplegia of childhood. We show the feasibility of a randomized placebo-controlled trial in this setting. Trial registration The study has been registered with clinicaltrials.gov ( NCT002408354 ) the 03/24/2015.
Published: 2017
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6. Biomechanical Upper Limb Model for Postural Tremor Absorber Design

Author: Sarah Gebai, Gwendal Cumunel, Mohammad Hammoud, Gilles Foret, Emmanuel Roze, and Elodie Hainque
Subjects: electromyography, postural tremor control, optimized tuned-mass-damper, upper limb model
Abstract: The current work promotes the use of non-invasive devices for reducing involuntary tremor of human upper limb. It concentrates on building up an upper limb model used to reflect the measured tremor signal and is suitable for the design of a passive vibration controller. A dynamic model of the upper limb is excited by the measured electromyography signal scaled to reach the wrist joint angular displacement measured by an inertial measurement unit for a patient with postural tremor. A passive tuned-mass-damper (TMD) placed on the hand is designed as a stainless-steel beam with a length of 91 mm and a cross-sectional diameter of 0.79 mm, holding a mass of 14.13 g. The damping ratio and mass position of the TMD are optimized numerically. The fundamental frequency of the TMD is derived and validated experimentally through measurements for different mass positions, with a relative error of 0.65%. The modal damping ratio of the beam is identified experimentally as 0.14% and increases to 0.26–0.46% after adding the mass at different positions. The optimized three TMDs reduce 97.4% of the critical amplitude of the power spectral density at the wrist joint.
Published: 2022
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7. Adaptive DBS Algorithm for Personalized Therapy in Parkinson’s Disease: ADAPT-PD clinical trial methodology and early data (P1-11.002)

Author: Helen Bronte-Stewart, Martijn Beudel, Jill L. Ostrem, Alfonso Fasano, Leonardo Almeida, Travis Hassell, Elena Moro, Michal Gostkowski, Kyle T. Mitchell, Elodie Hainque, Nagaraja Sarangmat, Scott Stanslaski, Lisa Tonder, Rebekah Summers, Robert S. Raike, and Todd M. Herrington
Published: 2023
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8. Upper limb involuntary tremor reduction using cantilever beam TMDs

Author: Sarah Gebai, Gwendal Cumunel, Mohammad Hammoud, Gilles Foret, Emmanuel Roze, and Elodie Hainque
Subjects: Mechanics of Materials, Mechanical Engineering, Automotive Engineering, Aerospace Engineering, General Materials Science
Abstract: Tuned mass dampers (TMDs) are proposed as a solution to reduce the involuntary tremor at the upper limb of a patient with postural tremor. The upper limb is modeled as a three-degrees-of-freedom rotating system in the vertical plane, with a flexion-extension motion at the joints. The measured extensor carpi radialis signal of a patient is used to excite the dynamic model. We propose a numerical methodology to optimize the parameters of the TMDs in the frequency domain combined with the response in the time domain. The objective function for the optimization of the dynamic problem is the maximum angular displacement of the wrist joint. The optimal stiffness and damping of the TMDs are obtained by satisfying the minimization of the selected objective function. The considered passive absorber is a cantilever beam–like TMD, whose length, beam cross-sectional diameter, and mass position reflect its stiffness for a chosen additional mass. A parametric study of the TMD is conducted to evaluate the effect of the TMD position along the hand segment, the number of TMDs, and the total mass of TMDs. The sensitivity of the TMD to a decrease of its modal damping ratio is studied to meet the range of stainless steel. TMDs are manufactured using stainless steel beams of the same length (9.1 cm) and cross-sectional diameter (0.79 mm), for which the mass (14.13 g) position is adjusted to match the optimal frequency. Three TMDs holding a mass of 14.13 g each cause 89% reduction in the wrist joint angular displacement.
Published: 2022
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9. Deep brain stimulation and dopamine medication enhance free choice preference in Parkinson’s disease

Author: David Bendetowicz, Gizem Temiz, Elodie Hainque, Virginie Czernecki, Brian Lau, Carine Karachi, and Jérôme Munuera
Abstract: Human decisions are frequently explained as the balancing of potential rewards and punishments, such as food, money, or lost time. However, rational models of decision making based on this idea often fail to accurately predict human behavior. Humans and other animals appear to base decisions on value estimation that is often not clearly linked to extrinsic outcomes. For example, humans prefer to choose, even when doing so has no clear impact on impending rewards or punishments. Thus, choice opportunities may be intrinsically rewarding. There is limited evidence about the mechanisms underlying intrinsic rewards, and it is unclear how deficits in motivation for intrinsic rewards manifest themselves following impairment of brain networks involved in reward processing such as the dopaminergic and cortico-basal ganglia systems. Here we seek to understand how extrinsic and intrinsic rewards act together to guide decisions. We designed a decision-making task that separates the intrinsic value of free choice from the value of extrinsic rewards received for correct performance. We investigated the neural mechanisms underlying choice preference by asking Parkinson’s disease patients to perform the task ON and OFF treatment. We tested two groups of patients to explore the effects of dopamine medication and potential modulation of wider cortical areas by deep brain stimulation. One group was treated with acute dopamine replacement therapy, and another group was treated with subthalamic nucleus deep brain stimulation. On average, patients ON dopaminergic treatment preferred to choose even when they risked losing extrinsic rewards (z=3.736,P=0.004). However, we found a significant interaction with the level ofchroniclevodopa therapy (z=2.643,P=0.008); patients with low doses of levodopa treatment in their daily lives did not prefer to choose (z=0.901,P=0.60), nor was this indifference modulated by acute levodopa administration (z=0.227,P=0.996). Deep brain stimulation patients were similarly indifferent to choice opportunities when OFF stimulation (z=-0.95,P=0.339). Like patients with low chronic levodopa treatment in the first group, all deep brain stimulation patients received low-dosage chronic levodopa treatment, which is one of the principal effects of this surgical intervention. Interestingly, in deep brain stimulation patients, choice preference could be re-established by subthalamic nucleus stimulation (z=3.07,P=0.011). This was associated with increased structural connectivity between subthalamic nucleus stimulation sites and the medial frontal cortex (including Brodmann areas 8, 9, and 32;P
Published: 2023
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10. 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
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11. Antisaccade, a predictive marker for freezing of gait in Parkinson’s disease and gait/gaze network connectivity

Author: Claire Ewenczyk, Elodie Hainque, Cecile Gallea, Lydia Yahia-Cherif, Sophie Rivaud-Péchoux, Pierre Pouget, Marie Vidailhet, Benoit Wicki, 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], and 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)
Subjects: Male, medicine.medical_specialty, Parkinson's disease, Sensitivity and Specificity, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Mesencephalon, Neural Pathways, Saccades, Humans, Medicine, Latency (engineering), Eye-Tracking Technology, Prospective cohort study, Gait Disorders, Neurologic, Aged, 030304 developmental biology, Brain Mapping, 0303 health sciences, Predictive marker, Resting state fMRI, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, Brain, Parkinson Disease, Cognition, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Gaze, Gait, Female, Neurology (clinical), business, Biomarkers, 030217 neurology & neurosurgery
Abstract: Freezing of gait is a challenging sign of Parkinson’s disease associated with disease severity and progression and involving the mesencephalic locomotor region. No predictive factor of freezing has been reported so far. The primary objective of this study was to identify predictors of freezing occurrence at 5 years. In addition, we tested whether functional connectivity of the mesencephalic locomotor region could explain the oculomotor factors at baseline that were predictive of freezing onset. We performed a prospective study investigating markers (parkinsonian signs, cognitive status and oculomotor recordings, with a particular focus on the antisaccade latencies) of disease progression at baseline and at 5 years. We identified two groups of patients defined by the onset of freezing at 5 years of follow-up; the ‘Freezer’ group was defined by the onset of freezing in the ON medication condition during follow-up (n = 17), while the ‘non-Freezer’ group did not (n = 8). Whole brain resting-state functional MRI was recorded at baseline to determine how antisaccade latencies were associated with connectivity of the mesencephalic locomotor region networks in patients compared to 25 age-matched healthy volunteers. Results showed that, at baseline and compared to the non-Freezer group, the Freezer group had equivalent motor or cognitive signs, but increased antisaccade latencies (P = 0.008). The 5-year course of freezing of gait was correlated with worsening antisaccade latencies (P = 0.0007). Baseline antisaccade latencies was also predictive of the freezing onset (χ2 = 0.008). Resting state connectivity of mesencephalic locomotor region networks correlated with (i) antisaccade latency differently in patients and healthy volunteers at baseline; and (ii) the further increase of antisaccade latency at 5 years. We concluded that antisaccade latency is a predictive marker of the 5-year onset of freezing of gait. Our study suggests that functional networks associated with gait and gaze control are concurrently altered during the course of the disease.
Published: 2020
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12. J01 Triheptanoin is associated with clinical stability and decreased caudate atrophy in huntington disease

Author: Fanny Mochel, Aurélie Meneret, Isaac Adanyeguh, Camille Giron, Elodie Hainque, Marie-Pierre Luton, Mariana Atencio, Milou Jacobs, Fleur Veldkamp, Emma Coppen, Kasper van der Zwaan, Eric Vicaut, Raymund AC Roos, and Alexandra Durr
Subjects: medicine.medical_specialty, chemistry.chemical_compound, Endocrinology, Caudate atrophy, chemistry, business.industry, Internal medicine, medicine, Disease, business, Triheptanoin
Published: 2021
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13. Late-onset idiopathic focal dystonia of the trunk: A treatable cause of bent spine syndrome

Author: Elodie Hainque, Emmanuel Roze, Carine Karachi, Clément Tarrano, and Emmanuelle Apartis
Subjects: business.industry, Bent Spine Syndrome, Late onset, Anatomy, Focal dystonia, medicine.disease, Trunk, Spinal Curvatures, Muscular Atrophy, Spinal, Neurology, Dystonic Disorders, medicine, Humans, Neurology (clinical), business
Published: 2022
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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
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15. 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
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16. Design and Simulation of a Passive Absorber to Reduce Measured Postural Tremor Signal

Author: Sarah Gebai, Gwendal Cumunel, Mohammad Hammoud, Gilles Foret, Emmanuel Roze, and Elodie Hainque
Subjects: Wrist Joint, Forearm, Physiology (medical), Movement, Tremor, Biomedical Engineering, Humans, Hand
Abstract: Tremor is a semirhythmic oscillatory movement of a body part caused by alternating simultaneous contractions of an antagonistic muscle group. Medical and surgical treatments used to reduce the symptoms of involuntary tremor can cause negative side effects. This study examined the ability of passive vibration absorbers in reducing the amplitude of postural tremor (PT). Inertial measurement unit (IMU) was used to record PT signals at the forearm and hand of a patient. IMU signal was used to excite an upper limb modeled to represent the flexion–extension vibrational motion at the joints. Equations of motion were solved numerically to obtain a response that fits the measured tremor signal. Passive tuned mass damper (TMD) was modeled as a cantilever beam and a screw placed along its length, at a position reflecting its operational frequency. Natural frequency of the TMD was derived for different mass positions and validated numerically and experimentally. Modal damping ratio of the TMD, for each mass position, was also estimated. Mass position and damping coefficient of the TMD were optimized depending on the minimization in the power spectral density (PSD) of angular displacement amplitude at the wrist joint. Optimized three-TMD system of 28.64 g total effective mass with the estimated modal damping ratio reduced 83.1% of the PSD of the angular displacement amplitude. This study showed the performance ability of a lightweight passive absorber in controlling the involuntary tremor of a system excited by the measured tremor signal of a patient.
Published: 2021

17. Impact of Subthalamic Deep Brain Stimulation on Impulse Control Disorders in Parkinson's Disease: A Prospective Study

Author: Caroline Giordana, Ouhaid Lagha-Boukbiza, David Grabli, Agathe Vrillon, Eric Bardinet, Christine Tranchant, Chloé Laurencin, Alexandre Eusebio, Caroline Moreau, Anne-Sophie Rolland, Cécile Hubsch, Elodie Hainque, Béchir Jarraya, François Proust, Franck Durif, Mélissa Tir, Jean-Luc Houeto, Maeva Kyheng, Sophie Drapier, Paul Voulleminot, Mylène Meyer, M.D.N. Santin, Olivier Rascol, Mathieu Anheim, Jimmy Voirin, Matthieu Bereau, David Devos, Nicolas Auzou, Tiphaine Rouaud, Jean-Christophe Corvol, Solveig Montaut, David Maltête, Thomas Wirth, CHU Strasbourg, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CHU Lille, CHU Pontchaillou [Rennes], CHU Clermont-Ferrand, CHU Marseille, Institut de Neurosciences de la Timone (INT), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Bordeaux [Bordeaux], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Service NEUROSPIN (NEUROSPIN), 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)-Université Paris-Saclay, Hospices Civils de Lyon (HCL), CHU Rouen, Normandie Université (NU), 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), Centre Hospitalier Universitaire de Nancy (CHU Nancy), CHU Toulouse [Toulouse], Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Amiens-Picardie, 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), French Ministry of Health (PHRC National 2012), French network NS-Park, France Parkinson charity, 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), 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), Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), and Lille Neurosciences & Cognition - U 1172 (LilNCog)
Subjects: 0301 basic medicine, medicine.medical_specialty, Deep brain stimulation, Parkinson's disease, Impulse control disorder, medicine.medical_treatment, [SDV]Life Sciences [q-bio], 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Humans, Medicine, Apathy, Prospective Studies, Risk factor, Prospective cohort study, business.industry, Parkinson Disease, medicine.disease, STN functional territories, 3. Good health, deep brain stimulation, Disruptive, Impulse Control, and Conduct Disorders, Subthalamic nucleus, Treatment Outcome, 030104 developmental biology, Neurology, impulse control disorder, Cohort, Neurology (clinical), prognosis, medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract: International audience; Background Impact of subthalamic deep brain stimulation (DBS) on impulse control disorders (ICD) in Parkinson's disease (PD) remains controversial. Objectives The objectives of this study were to analyze the natural history of ICD between baseline and 1 year after subthalamic DBS in patients with PD and to identify predictive factors, taking into account the positions of the active contact and stimulation parameters. Methods We analyzed postoperative modifications of ICD based on the multicentric, prospective Predictive Factors and Subthalamic Stimulation in Parkinson's Disease cohort. ICD status and Ardouin Scale of Behaviour in PD were assessed at baseline and 1 year following subthalamic DBS. Location of active contacts within the 3 subthalamic nucleus functional territories was investigated. Results A total of 217 were patients included. Of the patients, 10.6% had ICD at baseline of which 95.6% improved at 1 year following subthalamic DBS; 3.6% of the patients experienced de novo ICD at 1 year following subthalamic DBS. Dopamine agonist dose reduction (from 309.8 to 109.3 mg) was the main driver of ICD regression (P= 0.05). Higher preoperative dyskinesias were associated with poorer ICD evolution (P= 0.04). Whereas baseline apathy was a risk factor of de novo ICD (P= 0.02), ICD improvement correlated with postoperative apathy (P= 0.004). Stimulation power and position of active contacts-mainly located within the sensorimotor part of the subthalamic nucleus-did not influence ICD. Conclusions This 1-year, postoperative follow-up study showed ICD regression and dopaminergic drug reduction with optimal position of the active contacts within the subthalamic nucleus. Whereas patients with PD with preoperative ICD were prone to postoperative apathy, we also showed that those with preoperative apathy had a higher risk to experience postoperative de novo ICD, further highlighting the meaningful influence of postoperative management of dopaminergic medication on outcome and the continuum between apathy and ICD. (c) 2020 International Parkinson and Movement Disorder Society
Published: 2021
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18. Preoperative REM sleep behavior disorder and subthalamic nucleus deep brain stimulation outcome in Parkinson disease 1 year after surgery

Author: Isabelle Benatru, Dominique Guehl, Philippe Derost, Stéphane Thobois, David Devos, Franck Durif, Elodie Durand, Mélissa Tir, Ouhaid Lagha-Boukbiza, Elodie Hainque, Elsa Besse-Pinot, Caroline Giordana, Jean-Christophe Corvol, B. Debilly, David Maltête, Tiphaine Rouaud, Sophie Drapier, Lucie Hopes, Bruno Pereira, Ana Marques, Cécile Hubsch, Maria Livia Fantini, Olivier Rascol, Alexandre Eusebio, Caroline Moreau, Anne-Sophie Rolland, Béchir Jarraya, Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux (NPsy-Sydo), CHU Clermont-Ferrand-Université Clermont Auvergne (UCA), Unité de Biostatistiques [CHU Clermont-Ferrand], Direction de la recherche clinique et de l’innovation [CHU Clermont-Ferrand] (DRCI), CHU Clermont-Ferrand-CHU Clermont-Ferrand, CHU Lille, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Hôpital Guillaume-et-René-Laennec [Saint-Herblain], Institut de Neurosciences de la Timone (INT), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie [Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service de Neurologie [CHU Rennes], CHU Pontchaillou [Rennes], Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Centre d'investigation clinique de Toulouse (CIC 1436), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre d’Excellence en Maladies Neurodégénératives (NeuroToul), CHU Toulouse [Toulouse], Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, Service de Neurologie [CHU Nice], Hôpital Pasteur [Nice] (CHU)-Centre Hospitalier Universitaire de Nice (CHU Nice), Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (CNC), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Service de neurologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Hôpital Foch [Suresnes], Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), 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), Ministère des Affaires Sociales et de la Santé, The study was funded by the France Parkinson charity and French Ministry of Health (PHRC National 2012) and promoted by CHU Lille (coordinated by Pr Devos and Pr Corvol) with the support of the French network NS-PARK and supported by NS-PARK/F-CRIN and the Fédération de la Recherche Clinique du CHU de Lille., Marques, Ana, CHU Clermont-Ferrand-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), CHU Clermont-Ferrand, École d’Orthoptie - Clermont-Ferrand (EO - UdA), CHU Clermont-Ferrand-Université d'Auvergne - Clermont-Ferrand I (UdA), Service de Neurologie [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], Service de neurologie et pathologie du mouvement, Hôpital Roger Salengro [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Guillaume-et-René-Laennec [Saint-Herblain], Hôpital de la Timone [CHU - APHM] (TIMONE), CIC - Poitiers, Université de Poitiers-Centre hospitalier universitaire de Poitiers (CHU Poitiers)-Direction Générale de l'Organisation des Soins (DGOS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux [Bordeaux], Toulouse Neuro Imaging Center (ToNIC), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, 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 Strasbourg, Centre Hospitalier Universitaire de Nice (CHU Nice), Centre Hospitalier Universitaire de Nancy (CHU Nancy), Hôpital de la Fondation Ophtalmologique Adolphe de Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Lille Neurosciences & Cognition - U 1172 (LilNCog), 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), 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), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (ISC-MJ), 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), and Hôpital Guillaume-et-René-Laennec [Saint-Herblain]-Centre hospitalier universitaire de Nantes (CHU Nantes)-Université de Nantes (UN)
Subjects: medicine.medical_specialty, Activities of daily living, Deep Brain Stimulation, REM Sleep Behavior Disorder, Disease, Risk Assessment, REM sleep behavior disorder, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Subthalamic Nucleus, Rating scale, medicine, Humans, Prospective Studies, 030212 general & internal medicine, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Prospective cohort study, business.industry, Subthalamic nucleus deep brain stimulation, Parkinson Disease, medicine.disease, 3. Good health, Surgery, Treatment Outcome, Preoperative Period, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), Neurosurgery, business, 030217 neurology & neurosurgery, Research Article
Abstract: Background and ObjectivesTo determine whether patients with Parkinson disease (PD) eligible for subthalamic nucleus deep brain stimulation (STN-DBS) with probable REM sleep behavior disorder (RBD) preoperatively could be more at risk of poorer motor, nonmotor, and quality of life outcomes 12 months after surgery compared to those without RBD.MethodsWe analyzed the preoperative clinical profile of 448 patients with PD from a French multicentric prospective study (PREDISTIM) according to the presence or absence of probable RBD based on the RBD Single Question and RBD Screening Questionnaire. Among the 215 patients with PD with 12 months of follow-up after STN-DBS, we compared motor, cognitive, psycho-behavioral profile, and quality of life outcomes in patients with (pre-opRBD+) or without (pre-opRBD–) probable RBD preoperatively.ResultsAt preoperative evaluation, pre-opRBD+ patients were older (61 ± 7.2 vs 59.5 ± 7.7 years; p = 0.02), had less motor impairment (Movement Disorder Society–sponsored version of the Unified Parkinson’s Disease Rating Scale [MDS-UPDRS] III “off”: 38.7 ± 16.2 vs 43.4 ± 7.1; p = 0.03) but more nonmotor symptoms on daily living activities (MDS-UPDRS I: 12.6 ± 5.5 vs 10.7 ± 5.3; p < 0.001), had more psychobehavioral manifestations (Ardouin Scale of Behavior in Parkinson's Disease total: 7.7 ± 5.1 vs 5.1 ± 0.4; p = 0.003), and had worse quality of life (Parkinson's Disease Questionnaire–39: 33 ± 12 vs 29 ± 12; p = 0.03), as compared to pre-opRBD– patients. Both pre-opRBD+ and pre-opRBD– patients had significant MDS-UPDRS IV score decrease (−37% and −33%, respectively), MDS-UPDRS III “med ‘off’/stim ‘on’” score decrease (−52% and −54%), and dopaminergic treatment decrease (−52% and −49%) after surgery, with no between-group difference. There was no between-group difference for cognitive and global quality of life outcomes.ConclusionsIn patients with PD eligible for STN-DBS, the presence of probable RBD preoperatively is not associated with a different clinical outcome 1 year after neurosurgery.Trial Registration InformationNCT02360683.Classification of EvidenceThis study provides Class II evidence that in patients with PD eligible for STN-DBS, the presence of probable RBD preoperatively is not associated with poorer outcomes 1 year post surgery.
Published: 2021
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19. Experimental Testing of Passive Linear TMD for Postural Tremor Attenuation

Author: Gwendal Cumunel, Elodie Hainque, Sarah Gebai, Mohammad Hammoud, Emmanuel Roze, Gilles Foret, Gestionnaire, HAL Sorbonne Université 5, International University of Beirut (BIU), Laboratoire Navier (NAVIER UMR 8205), École des Ponts ParisTech (ENPC)-Centre National de la Recherche Scientifique (CNRS)-Université Gustave Eiffel, 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 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 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 (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and 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)
Subjects: Technology, QH301-705.5, Acoustics, QC1-999, 0206 medical engineering, Angular velocity, 02 engineering and technology, Displacement (vector), 03 medical and health sciences, Acceleration, 0302 clinical medicine, postural tremor, Tuned mass damper, medicine, General Materials Science, Biology (General), signal processing, Instrumentation, QD1-999, passive tuned mass damper, Fluid Flow and Transfer Processes, Physics, [SDV.IB] Life Sciences [q-bio]/Bioengineering, Essential tremor, Angular displacement, Process Chemistry and Technology, experimental testing, General Engineering, Postural tremor, medicine.disease, Engineering (General). Civil engineering (General), 020601 biomedical engineering, experimental arm, Computer Science Applications, Chemistry, [SDV.IB]Life Sciences [q-bio]/Bioengineering, TA1-2040, Laser Doppler vibrometer, 030217 neurology & neurosurgery
Abstract: International audience; Research interest to provide a mechanical solution for involuntary tremors is increasing due to the severe side effects caused by the medications used to lessen its symptoms. This paper deals with the design of a cantilever-type tuned mass damper (TMD) used to prove the effectiveness of passive controllers in reducing the involuntary tremor’s vibrational signals transmitted by the muscles to the hand segment. TMD is tested on an experimental arm, reflecting the flexion-extension motion of the wrist, excited by a mechanical shaker with the measured tremor signal of a patient with essential tremor. The designed TMD provides a new operational frequency for each position of the screw fixed to its beam. Modal damping ratios are also calculated using different methods for each position. The effectiveness of the TMD is quantified by measurements using a vibrometer and inertial measurement unit. Three TMDs, representing 15.7% total mass ratio, cause a reduction of 29% for the acceleration, 69% for the velocity, 79% for the displacement, 67% for the angular velocity, and 82% for the angular displacement signals. These encouraging results will allow the improvement of the design of the passive controller in the form of a wearable bracelet suitable for daily life
Published: 2021
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20. Personality dimensions are associated with quality of life in fluctuating Parkinson's disease patients (PSYCHO-STIM)

Author: Elodie Hainque, Solène Ansquer, Tiphaine Rouaud, Vanessa Rousseau, Olivier Rascol, Teodor Danaila, Fabienne Ory-Magne, Marie Bonnet, Mylène Meyer, Christophe Arbus, Christine Brefel-Courbon, Claire Marsé, Mélissa Tir, David Devos, Mathilde Boussac, Caroline Moreau, Estelle Harroch, Lhaouas Belamri, Christine Tranchant, Béchir Jarraya, Jean-François Houvenaghel, David Maltête, A. Marques, Julia Dupouy, Alexandre Eusebio, 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 d'investigation clinique de Toulouse (CIC 1436), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Pôle Santé publique et médecine publique [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), 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), Clinique neurologique, Hôpital Laennec, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), CHU Pontchaillou [Rennes], Comportement et noyaux gris centraux = Behavior and Basal Ganglia [Rennes], Université de Rennes (UR)-Université européenne de Bretagne - European University of Brittany (UEB)-CHU Pontchaillou [Rennes]-Institut des Neurosciences Cliniques de Rennes = Institute of Clinical Neurosciences of Rennes (INCR), Centre Hospitalier Universitaire de Nice (CHU Nice), 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), CHU Strasbourg, 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 Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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, CIC - Poitiers, Université de Poitiers-Centre hospitalier universitaire de Poitiers (CHU Poitiers)-Direction Générale de l'Organisation des Soins (DGOS)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux [Bordeaux], Fondation Ophtalmologique Adolphe de Rothschild [Paris], Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux (NPsy-Sydo), CHU Clermont-Ferrand-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Université Clermont Auvergne (UCA), Hospices Civils de Lyon (HCL), Institut de Neurosciences de la Timone (INT), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), CHU Casselardit - Junod, Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], CHU Toulouse [Toulouse], Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), Troubles cognitifs dégénératifs et vasculaires - U 1171 (TCDV), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université européenne de Bretagne - European University of Brittany (UEB)-CHU Pontchaillou [Rennes]-Institut des Neurosciences Cliniques de Rennes (INCR), 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), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Saclay (COmUE)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)
Subjects: 0301 basic medicine, Male, Character, Parkinson's disease, media_common.quotation_subject, Deep Brain Stimulation, [SDV]Life Sciences [q-bio], Disease, Cohort Studies, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Quality of life, Subthalamic Nucleus, medicine, Personality, Humans, 10. No inequality, media_common, business.industry, Parkinson Disease, temperament, Middle Aged, medicine.disease, humanities, 030104 developmental biology, quality of life, personality, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Parkinson’s disease, Harm avoidance, Temperament and Character Inventory, Temperament, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Cohort study, Clinical psychology
Abstract: International audience; Background:Parkinson’s disease (PD) negatively affects patients’ Quality of Life (QoL) which depends on both objective criteria such as physical health and subjective ones such as worries and norms according to personal believes. Therefore, QoL could be also associated to personality dimensions in chronic neurological diseases such as PD. Objective:Our objective was thus to study the potential association between personality dimensions and QoL in PD patients with motor fluctuations before Deep Brain Stimulation of the Sub-Thalamic Nucleus (DBS-STN). Methods:Data were obtained from the French multicentric cohort study Predi-Stim. All PD patients awaiting DBS-STN and responding to the inclusion criteria at the time of the study were included. All participants answered the “Temperament and Character Inventory” (TCI) and the PDQ-39 before surgery. Analyses were made using adjusted univariate generalized linear regression models to evaluate a potential association between TCI dimensions and PDQ-39 scores. Results:Three hundred thirty-three consecutive patients were included. The temperament Harm Avoidance was negatively associated with QoL (p = 1e-4, R2= 0.33), whereas the character Self-Directedness was positively associated with mental component of QoL (p = 2e-4, R2= 0.33) in PD patients with motor fluctuations awaiting DBS-STN. Conclusions:PD patients with motor fluctuations, with lower Harm Avoidance and higher Self-Directedness scores have the best QoL mainly at an emotional and social level. Therapeutic education of these PD patients focusing on their personal resources may thus be important to improve their well-being.
Published: 2020
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21. Long‐term GPi‐DBS improves motor features in myoclonus‐dystonia and enhances social adjustment

Author: François Viallet, David Grabli, Elodie Hainque, Marjan Jahanshahi, Cecilia Bonnet, Sophie Rivaud-Péchoux, Stephen Tisch, Soledad Navarro, Zuzana Kosutzka, Carine Karachi, Marta Ruiz, Emmanuel Roze, Marie-Laure Welter, and Marie Vidailhet
Subjects: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Deep brain stimulation, Adolescent, Deep Brain Stimulation, medicine.medical_treatment, Motor Disorders, Time, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Rating scale, Humans, Medicine, Disabled Persons, Aged, Dystonia, business.industry, Middle Aged, medicine.disease, Abnormal involuntary movement, nervous system diseases, Treatment Outcome, 030104 developmental biology, Mood, Neurology, Dystonic Disorders, Physical therapy, Female, Neurology (clinical), Abnormal Involuntary Movement Scale, medicine.symptom, business, Social Adjustment, Myoclonus, 030217 neurology & neurosurgery
Abstract: Background Good short-term results of pallidal deep brain stimulation have been reported in myoclonus-dystonia. Efficacy and safety in the long term remain to be established. In addition, the actual impact of DBS treatment on social inclusion is unknown. The objective of this study was to assess the long-term clinical outcome, quality of life, and social adjustment of GPi-DBS in patients with e-sarcoglycan (DYT11)-positive myoclonus-dystonia. Methods Consecutive myoclonus-dystonia patients with e-sarcoglycan mutations who underwent GPi-DBS were evaluated at least 5 years postoperatively. Motor symptoms were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale including the Disability Scale, a composite score combining the rest and action parts of the Unified Myoclonus Rating Scale and modified Abnormal Involuntary Movement Scale. Standardized video-protocols were assessed by a blinded and external movement disorder specialist. Social adjustment, cognition, and mood were evaluated. Results Nine patients (5 women) with long-term GPi-DBS (8.7 ± 3.1 years) were included. There was significant improvement in the composite myoclonus score (94.1% ± 4% improvement; P = 0.008). Dystonia severity was also markedly improved (71.4% ± 28.33% improvement; P = 0.008) as well as motor disability (88.3% ± 20% improvement; P = 0.008) and abnormal involuntary movement score (71.1% ± 15.0% improvement; P = 0.008). No patients experienced postoperative speech or gait problems or any permanent adverse effects. Eight of the 9 patients had fully enhanced social adjustment and personal achievement, with little or no mood or behavioral disorders. Conclusions GPi-DBS seems to be a safe and efficacious treatment for medically refractory ɛ-sarcoglycan myoclonus-dystonia, with sustained motor benefit, good quality of life, and social adjustment in long-term follow-up. © 2018 International Parkinson and Movement Disorder Society.
Published: 2018
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22. Whispering dysphonia in TUBB4A ‐related disorders responsive to bipallidal deep brain stimulation

Author: Cécile Delorme, Carine Karachi, Elodie Hainque, Marie Vidailhet, and Emmanuel Roze
Subjects: Dystonia, Pediatrics, medicine.medical_specialty, Deep brain stimulation, business.industry, medicine.medical_treatment, medicine.disease, nervous system diseases, 03 medical and health sciences, 0302 clinical medicine, Neurology, Wide phenotypic spectrum, Whispering dysphonia, Generalized dystonia, otorhinolaryngologic diseases, medicine, In patient, 030212 general & internal medicine, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract: Background Mutations in TUBB4A are associated with a wide phenotypic spectrum including generalized dystonia with whispering dysphonia (DYT-TUBB4A). Methods We report the case of a 44-year old patient with DYT-TUBB4A with a clinical presentation of disabling progressive dystonia, with a prominent laryngeal, cervical and facial involvement. Results Bipallidal deep brain stimulation (DBS) resulted in a 55% reduction of dystonia severity assessed by the Burke-Fahn-Marsden scale score six months after surgery. The effect was obvious on cervical and facial components of dystonia. Conclusions We suggest that bipallidal DBS should be considered in patient with disabling dystonia related to TUBB4A variants.
Published: 2021
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23. A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome

Author: Vincent Petit, Cheuk-Wing Fung, Elodie Hainque, Marie-Pierre Luton, Caroline Kappeler, Lydie Da Costa, Sandrine Vuillaumier-Barrot, Nouha Essid, Christelle Cousin, Stéphane Auvin, Domitille Gras, Brian Hy Chung, Odile Boespflug-Tanguy, Emmanuel Roze, and Fanny Mochel
Subjects: 0301 basic medicine, endocrine system, Pathology, medicine.medical_specialty, Movement disorders, Carbohydrate metabolism, Gastroenterology, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Internal medicine, medicine, Blood test, Young adult, biology, medicine.diagnostic_test, business.industry, Case-control study, nutritional and metabolic diseases, medicine.disease, 3. Good health, carbohydrates (lipids), 030104 developmental biology, Neurology, biology.protein, GLUT1, Neurology (clinical), medicine.symptom, business, hormones, hormone substitutes, and hormone antagonists, 030217 neurology & neurosurgery, Glucose Transporter Type 1
Abstract: Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1-DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control epilepsy and movement disorders. We tested a novel simple and rapid blood test in 30 patients with GLUT1-DS with predominant movement disorders, 18 patients with movement disorders attributed to other genetic defects, and 346 healthy controls. We detected significantly reduced GLUT1 expression only on red blood cells from patients with GLUT1-DS (23 patients; 78%), including patients with inconclusive genetic analysis. This test opens perspectives for the screening of GLUT1-DS in children and adults with cognitive impairment, movement disorder, or epilepsy. Ann Neurol 2017;82:133-138.
Published: 2017
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24. Rapid worsening in Parkinson's disease may hide COVID-19 infection

Author: David Grabli and Elodie Hainque
Subjects: 2019-20 coronavirus outbreak, Parkinson's disease, Fatal outcome, Coronavirus disease 2019 (COVID-19), business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Disease progression, Clinical Neurology, COVID-19, Prognosis, medicine.disease, Article, Neurology, Pandemic, Immunology, medicine, Neurology (clinical), Geriatrics and Gerontology, business
Published: 2020
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25. Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome

Author: Aurélie Méneret, Emmanuel Roze, Thierry Billette de Villemeur, Chris Ottolenghi, Fanny Mochel, Magali Barbier, Mariana Atencio, Domitille Gras, Elodie Hainque, Anne de Saint Martin, and Marie-Pierre Luton
Subjects: Adult, Male, Pediatrics, medicine.medical_specialty, Deficiency syndrome, Movement disorders, Adolescent, Monosaccharide Transport Proteins, medicine.medical_treatment, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Medicine, Humans, In patient, Confusion, Fatigue, Triglycerides, Triglyceride, business.industry, Dysarthria, Paroxysmal dyskinesia, medicine.disease, Triheptanoin, Psychiatry and Mental health, Dystonia, chemistry, Surgery, Ataxia, Female, Neurology (clinical), Ketosis, medicine.symptom, business, Diet, Ketogenic, 030217 neurology & neurosurgery, Ketogenic diet, Carbohydrate Metabolism, Inborn Errors
Abstract: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) causes cerebral energy deficiency due to altered transport of glucose across the blood brain barrier and into astrocytes.1 Its main phenotype combines developmental delay, permanent motor dysfunction and paroxysmal neurological manifestations.1 In addition, GLUT1-DS may solely consist of paroxysmal manifestations such as seizures or exercise-induced paroxysmal dyskinesia. Ketogenic diet is the primary treatment of GLUT1-DS with clear efficacy on seizures and non-epileptic motor manifestations,1 but it has severe constraints. Ketogenic diet failure has been occasionally reported due to poor tolerance, inefficacy or failure to achieve ketosis,2 emphasising the need for alternative therapeutic options. Triheptanoin is a triglyceride containing three 7-carbon fatty acids, which provides acetyl-coenzyme A (CoA) and propionyl-CoA, two key carbon sources for the Krebs cycle.3 Treatment with triheptanoin resulted in a dramatic and sustained reduction of non-epileptic paroxysmal events in a group of GLUT1-DS patients who were not on ketogenic diet.4 5 Here, we evaluated the long-term effect of triheptanoin in four GLUT1-DS patients with persistent paroxysmal manifestations while on ketogenic diet. We enrolled four GLUT1-DS patients (table 1) who reported persistent paroxysmal events while on ketogenic diet (trial registration number NCT02014883). Three adults and one child’s legal guardian signed a written informed consent for participation in this study sponsored by INSERM. View this table: Table 1 Baseline characteristics of GLUT1-DS patients and changes in outcome variables The study was divided into baseline, transition from ketogenic diet to triheptanoin (transition), short-term evolution (short term) and long-term follow-up (long term) with triheptanoin. A flow …
Published: 2019

26. Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect

Author: Emmanuel Roze, Mohamed Doulazmi, Aurélie Méneret, Elodie Hainque, Domitille Gras, Marie-Pierre Luton, Chris Ottolenghi, Magali Barbier, Florence Habarou, Mariana Atencio, Fanny Mochel, Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], 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 [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Hôpital Robert Debré Paris, Hôpital Robert Debré, 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), Adaptation Biologique et Vieillissement = Biological Adaptation and Ageing (B2A), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU), CHU Necker - Enfants Malades [AP-HP], Service de génétique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [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)-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), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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), Service de Neurologie [CHU Pitié-Salpêtrière], and IFR70-CHU Pitié-Salpêtrière [AP-HP]
Subjects: Pediatrics, medicine.medical_specialty, Movement disorders, Monosaccharide Transport Proteins, medicine.medical_treatment, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, triheptanoin, GLUT1 deficiency syndrome, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Humans, Triglycerides, ComputingMilieux_MISCELLANEOUS, Triglyceride, business.industry, Glucose transporter, PostScript, Paroxysmal dyskinesia, 3. Good health, Triheptanoin, Psychiatry and Mental health, chemistry, Ketone bodies, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, movement disorders, Surgery, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Glucose Transporter Type 1, Carbohydrate Metabolism, Inborn Errors, Follow-Up Studies, Ketogenic diet
Abstract: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by heterozygous mutations in the SLC2A1 gene. Glucose transport is impaired across the blood–brain barrier and into astrocytes. This eventually results in cerebral energy deficiency.1 Typically, GLUT1-DS is associated with developmental delay, permanent motor disorders and paroxysmal manifestations including epileptic and non-epileptic paroxysmal episodes.1 2 The phenotypic spectrum is however much wider: exercise-induced paroxysmal dyskinesia may sometimes be the main or sole manifestation of the disease.3 4 Ketogenic diet is the standard of care in GLUT1-DS,1 5 providing ketone bodies as an alternate source of energy to the brain. Other alternative treatments are needed as many patients have difficulties following the heavy constraints of this diet. Triheptanoin (UX007; Ultragenyx Pharmaceuticals, Novato, USA) is a medium odd-chain triglyceride containing three 7-carbon fatty acids with anaplerotic properties.6–8 Unlike even-chain fatty acids that can only generate acetyl-CoA, triheptanoin provides indeed both acetyl-CoA and propionyl-CoA, two key carbon sources for the Krebs cycle.9 10 We recently showed that triheptanoin dramatically reduced by 90% the number of non-epileptic paroxysmal manifestations over 2 months in GLUT1-DS and improved patient’s brain energy profile.9 Here, we wished to evaluate the long-term clinical efficacy of triheptanoin in children and adults with GLUT1-DS. We extended our study protocol (NCT02014883) based on the striking short-term response with triheptanoin.9 All participants and/or their legal guardians signed a new informed consent. Among the six patients previously reported who completed the initial …
Published: 2019
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27. Évolution et facteurs prédictifs à court terme des dyskinésies après stimulation cérébrale profonde du noyau sous-thalamique dans la maladie de Parkinson

Author: David Grabli, Eric Bardinet, Maeva Kyheng, Marie Des Neiges Santin-Baloglu, Paul Voulleminot, Elodie Hainque, and Agathe Vrillon
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction La stimulation cerebrale profonde (SCP) du noyau sous-thalamique (NST) ameliore l’etat moteur dans la maladie de parkinson (MP) evoluee. Les dyskinesies sont parmi les symptomes reduisant le plus la qualite de vie au stade des fluctuations motrices. Objectifs Les objectifs de notre etude etaient : – d’evaluer l’evolution des dyskinesies a un an de la SCP du NST ; – d’identifier des facteurs predictifs de leur evolution ; – d’identifier une localisation optimale des contacts actifs pour leur amelioration. Patients et methodes Notre travail portait sur la cohorte prospective multicentrique Predi-Stim etudiant la SCP du NST dans la MP. Les dyskinesies etaient evaluees par le score UPDRS DYSK (sous-scores UPDRS IV 4,1 + 4,2 + 4,6) en preoperatoire et a un an. Les donnees motrices et neuropsychiatriques etaient recueillies en preoperatoire et a un an. L’imagerie pre et post-operatoire permettait de localiser les contacts actifs a l’aide de l’atlas Yeb. Une analyse en regression logistique etait effectuee pour rechercher des facteurs predictifs de l’evolution des dyskinesies. Resultats Les dyskinesies s’amelioraient a un an chez 82,4 % des 269 patients inclus (p Discussion L’amelioration observee portait sur tous les sous-types de dyskinesies et n’etait pas correlee a la diminution du traitement antiparkinsonien suggerant un effet propre de la SCP sur les dyskinesies. La severite des dyskinesies sur le score UPDRS DYSK en preoperatoire etait un facteur predictif positif, ce qui devrait guider les futures decisions therapeutiques. Conclusion Dans une cohorte de patients avec une MP evoluee, la SCP des NST ameliorait les dyskinesies a un an et la severite initiale des dyskinesies etait predictive de leur amelioration. Une stimulation plus posterieure dans le NST exercait un effet antidyskinetique.
Published: 2020
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28. A clinical and neurophysiological motor signature of Unverricht–Lundborg disease

Author: Vincent Navarro, Isabelle Gourfinkel-An, Sophie Rivaud-Péchoux, Anne Bertrand, Emmanuel Roze, Anne Blancher, Valérie Mesnage, Sophie Dupont, Elodie Hainque, Emmanuelle Apartis, Service de Neuroradiologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (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), Service de neurophysiologie [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Service de Neurologie [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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], Unité fonctionnelle d'épilepsie [CHU Pitié-Salpêtrière], Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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), 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), Unité de neurophysiologie [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de neuroradiologie diagnostique et fonctionnelle [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)-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), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-IFR70-CHU Pitié-Salpêtrière [AP-HP], Service d'Explorations Fonctionnelles Neurologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [APHP]-Assistance publique - Hôpitaux de Paris (AP-HP), 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 ) -CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique ( CNRS ), Laboratoire d'Immunologie, Université Paul Sabatier - Toulouse 3 ( UPS ) -CHU Toulouse [Toulouse]-Hôpital de Rangueil, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Saint-Antoine [APHP], Algorithms, models and methods for images and signals of the human brain ( ARAMIS ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -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 ) -CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique ( CNRS ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique ( CNRS ) -Inria de Paris, Institut National de Recherche en Informatique et en Automatique ( Inria ) -Institut National de Recherche en Informatique et en Automatique ( Inria ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Procédés Alimentaires et Microbiologiques [Dijon] ( PAM ), Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université Bourgogne Franche-Comté ( UBFC ), Centre de Référence pour les Epilepsies Rares, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP]-Centre de Référence pour les Epilepsies Rares, 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), 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), 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)-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), 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)-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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-IFR70-CHU Pitié-Salpêtrière [AP-HP]
Subjects: Male, 0301 basic medicine, Myoclonus, Eye Movements, [SDV]Life Sciences [q-bio], Electroencephalography, Audiology, 0302 clinical medicine, Age of Onset, Child, Neurologic Examination, medicine.diagnostic_test, Brain, Middle Aged, Magnetic Resonance Imaging, Unverricht–Lundborg disease, Neurology, [ SDV.MHEP.OS ] Life Sciences [q-bio]/Human health and pathology/Sensory Organs, Female, medicine.symptom, Psychology, Brainstem, Adult, medicine.medical_specialty, Ataxia, Adolescent, Neurophysiology, Progressive myoclonus epilepsy, Midbrain, Young Adult, 03 medical and health sciences, Unverricht-Lundborg Syndrome, Evoked Potentials, Somatosensory, Saccades, medicine, Humans, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, [ SDV ] Life Sciences [q-bio], Electromyography, medicine.disease, Oculomotor disorder, 030104 developmental biology, Oculomotor Muscles, Somatosensory evoked potential, Neurology (clinical), 030217 neurology & neurosurgery
Abstract: Objectives Unverricht–Lundborg disease (ULD) is the most common form of progressive myoclonus epilepsy. Cerebellar dysfunction may appear over time, contributing along with myoclonus to motor disability. The purpose of the present work was to clarify the motor and neurophysiological characteristics of ULD patients. Methods Nine patients with genetically proven ULD were evaluated clinically (medical history collected from patient charts, the Scale for the Assessment and Rating of Ataxia and Unified Myoclonus Rating Scale). Neurophysiological investigations included EEG, surface polymyography, long-loop C-reflexes, somatosensory evoked potentials, EEG jerk-locked back-averaging (JLBA) and oculomotor recordings. All patients underwent brain MRI. Non-parametric Mann-Whitney tests were used to compare ULD patients’ oculomotor parameters with those of a matched group of healthy volunteers (HV). Results Myoclonus was activated by action but was virtually absent at rest and poorly induced by stimuli. Positive myoclonus was multifocal, often rhythmic and of brief duration, with top-down pyramidal temporospatial propagation. Cortical neurophysiology revealed a transient wave preceding myoclonus on EEG JLBA ( n = 8), enlarged somatosensory evoked potentials ( n = 7) and positive long-loop C-reflexes at rest ( n = 5). Compared with HV, ULD patients demonstrated decreased saccadic gain, increased gain dispersion and a higher frequency of hypermetric saccades associated with decreased peak velocity. Conclusion A homogeneous motor pattern was delineated that may represent a ULD clinical and neurophysiological signature. Clinical and neurophysiological findings confirmed the pure cortical origin of the permanent myoclonus. Also, oculomotor findings shed new light on ULD pathophysiology by evidencing combined midbrain and cerebellar dysfunction.
Published: 2018
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29. Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein

Author: Michel Koenig, Elodie Hainque, Alexis Brice, Marie-Céline Fleury, D. Grabli, Mathieu Anheim, Marie Vidailhet, P. Charles, Sophie Rivaud-Péchoux, Bertrand Gaymard, Louise-Laure Mariani, I. Le Ber, Bertrand Degos, Aurélie Méneret, Andoni Echaniz-Laguna, Emmanuel Roze, Mathilde Renaud, Dominique Stoppa-Lyonnet, Thierry Maisonobe, Christine Tranchant, Thomas Wirth, Claire Ewenczyk, C. Dubois-d’Enghien, Alexandra Durr, Bondo Ben Monga, 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)-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), 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), Centre de référence des maladies rares neuromusculaires, 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 Neuroradiologie [CHU Pitié-Salpêtrière], 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), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Centre expert inter-régional de coordination de la maladie de Parkinson [CHU Pitié-Salpêtrière], Institut Curie [Paris], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), 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 neuropédiatrie et maladies métaboliques [CHU Robert-Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Service de Neurophysiologie [CHU Pitié-Salpêtrière], 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 National de la Recherche Scientifique (CNRS), 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 de référence des maladies rares neuromusculaires [CHU Pitié-Salpétriêre], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Strasbourg, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Movement disorders, Ataxia, Adolescent, genetic structures, Apraxias, [SDV]Life Sciences [q-bio], lcsh:Medicine, Audiology, Multimodal Imaging, Article, Ataxia Telangiectasia, 03 medical and health sciences, 0302 clinical medicine, Hypometric saccades, medicine, Cogan Syndrome, Humans, Oculomotor apraxia, Child, lcsh:Science, Multidisciplinary, business.industry, lcsh:R, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, Child, Preschool, Ataxia-telangiectasia, Fixation (visual), Spinocerebellar ataxia, Female, lcsh:Q, Cerebellar atrophy, alpha-Fetoproteins, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: International audience; Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. We compared 40 patients with AOA1, AOA2 and AT, consecutively referred between 2008 and 2015 with 17 healthy subjects. Video-oculography revealed constant impairments in patients such as cerebellar signs, altered fixation, impaired pursuit, hypometric saccades and abnormal antisaccades. Horizontal saccade latencies could be highly increased reflecting oculomotor apraxia in one third of patients. Specific distinctive alpha-fetoprotein thresholds were determined for AOA1 (7-15 \textmug/L), AOA2 (15-65 \textmug/L) and AT (\textgreater65 \textmug/L). Early age onset, severe walking disability, movement disorders, sensori-motor neuropathy and cerebellar atrophy were all shared. In conclusion, alpha-fetoprotein level seems to permit a distinction while video-oculography does not and therefore is not mandatory, even if an appropriate oculomotor examination remains crucial. Our findings are that AOA1, AOA2 and AT form a particular group characterized by ataxia with complex oculomotor disturbances and elevated AFP for which the final diagnosis is relying on genetic analysis. These findings could guide genetic analysis, assist reverse-phenotyping and provide background for the interpretation of the numerous variants of unknown significance provided by next-generation sequencing.
Published: 2017
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30. Teaching Video Neuro

Author: Louise-Laure, Mariani, Elodie, Hainque, Marie, Mongin, Emmanuelle, Apartis, and Emmanuel, Roze
Subjects: Male, Reflex, Startle, Hyperekplexia, Myography, Humans, Videotape Recording, Middle Aged
Published: 2017

31. New insight in spiral drawing analysis methods - Application to action tremor quantification

Author: Emmanuel Roze, André Pierre Legrand, Isabelle Rivals, Aliénor Richard, Marie Vidailhet, Elodie Hainque, Emmanuelle Apartis, Sabine Meunier, Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL), Neurophysiologie Respiratoire Expérimentale et Clinique (UMRS 1158), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), 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)-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), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Sons, Laboratoire de Mécanique et d'Acoustique [Marseille] (LMA ), Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS), Centre d'investigation clinique Neurosciences [CHU Pitié Salpêtrière] (CIC Neurosciences), 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)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: 0301 basic medicine, Adult, Male, Handwriting, Computer science, Essential Tremor, Hilbert–Huang transform, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Physiology (medical), medicine, Humans, Diagnosis, Computer-Assisted, Spiral, Analysis method, Aged, Signal processing, Reproducibility, Essential tremor, business.industry, Numerical analysis, Reproducibility of Results, Pattern recognition, Middle Aged, medicine.disease, Action tremor, Sensory Systems, 030104 developmental biology, Neurology, Motor Skills, Computers, Handheld, Female, Neurology (clinical), Artificial intelligence, business, Spiral drawing analysis Essential tremor Unravelling Empirical mode decomposition, 030217 neurology & neurosurgery, [PHYS.PHYS.PHYS-DATA-AN]Physics [physics]/Physics [physics]/Data Analysis, Statistics and Probability [physics.data-an]
Abstract: International audience; Objective: Spiral drawing is one of the standard tests used to assess tremor severity for the clinical evaluation of medical treatments. Tremor severity is estimated through visual rating of the drawings by movement disorders experts. Different approaches based on the mathematical signal analysis of the recorded spiral drawings were proposed to replace this rater dependent estimate. The objective of the present study is to propose new numerical methods and to evaluate them in terms of agreement with visual rating and reproducibility. Methods: Series of spiral drawings of patients with essential tremor were visually rated by a board of experts. In addition to the usual velocity analysis, three new numerical methods were tested and compared, namely static and dynamic unraveling, and empirical mode decomposition. The reproducibility of both visual and numerical ratings was estimated, and their agreement was evaluated. Results: The statistical analysis demonstrated excellent agreement between visual and numerical ratings, and more reproducible results with numerical methods than with visual ratings. Conclusions: The velocity method and the new numerical methods are in good agreement. Among the latter, static and dynamic unravelling both display a smaller dispersion and are easier for automatic analysis. Significance: The reliable scores obtained through the proposed numerical methods allow considering that their implementation on a digitized tablet, be it connected with a computer or independent, provides an efficient automatic tool for tremor severity assessment.
Published: 2017
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32. Essential Palatal Tremor Synchronization: A Study by Video Record Numerical Analysis

Author: Elodie Hainque, Marie Vidailhet, Emmanuel Roze, André Pierre Legrand, and Emmanuelle Apartis
Subjects: Psychomotor learning, medicine.medical_specialty, Communication, Soft palate, business.industry, Case Reports, Audiology, medicine.disease, Palatal tremor, medicine.anatomical_structure, Rhythm, Neurology, otorhinolaryngologic diseases, medicine, Fetal distress, Psychogenic disease, Neurology (clinical), Strabismus, business, Sinusitis
Abstract: A 12-year-old girl presented with a 2-year history of rhythmic ear clicks. She was born 7 weeks premature with caesarean without fetal distress and had a normal psychomotor development. A strabismus was corrected by surgery. The clicks started concurrently with an acute infectious sinusitis. These involuntary clicks were not bothersome and stopped during sleep. They were present every day with a fluctuating intensity. Free intervals shorter than 2 days may rarely occur. She had no particular tricks to control the clicks, and no provoking factors were identified. Examination revealed isolated continuous rhythmic bilateral and symmetrical brisk movements of the soft palate (see Video 1). Brain MRI was normal with no hypertrophy of the inferior olive. Because the movements of the soft palate seemed quite irregular, she was referred to our neurophysiology department to determine precisely the palatal tremor (PT) frequency and to perform frequency entrainment trials in order to examine the psychogenic hypothesis.
Published: 2015
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33. A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia

Author: Noël Zahr, Stéphane Thobois, Fanny Charbonnier-Beaupel, Elodie Hainque, Sophie Dupont, Eugénie Mutez, Anne Doé De Maindreville, Nathalie Cozic, Cécile Hubsch, Alain Mallet, Aurélie Méneret, Christine Tranchant, Sophie Drapier, Fabienne Clot, Cecilia Bonnet, Vanessa Brochard, Emmanuel Roze, David Grabli, André-Pierre Legrand, Emmanuelle Apartis, Thibaud Lebouvier, Marie Vidailhet, Jean-Philippe Azulay, Bertrand Degos, Anne Bissery, Jean-Christophe Corvol, Gérald Glibert, 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)-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), 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 (CNC), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Pôle Tête-Cou-CETD, Les Hôpitaux Universitaires de Strasbourg (HUS), Comportement et noyaux gris centraux = Behavior and Basal Ganglia [Rennes], CHU Pontchaillou [Rennes]-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université européenne de Bretagne - European University of Brittany (UEB)-Institut des Neurosciences Cliniques de Rennes (INCR), Service de Neurologie [Rennes] = Neurology [Rennes], CHU Pontchaillou [Rennes], Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, Hôpital de la Timone [CHU - APHM] (TIMONE), Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière (NEMESIS-CRICM), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), 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)-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 Saint-Antoine [AP-HP], Centre d'investigation clinique Neurosciences [CHU Pitié Salpêtrière] (CIC Neurosciences), Service de neurologie 1 [CHU Pitié-Salpétrière], 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), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (ISC-MJ), Université de Rennes (UR)-Université européenne de Bretagne - European University of Brittany (UEB)-CHU Pontchaillou [Rennes]-Institut des Neurosciences Cliniques de Rennes = Institute of Clinical Neurosciences of Rennes (INCR), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], 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 [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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université européenne de Bretagne - European University of Brittany (UEB)-CHU Pontchaillou [Rennes]-Institut des Neurosciences Cliniques de Rennes (INCR), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Neurologie [CHU Pitié-Salpêtrière], and IFR70-CHU Pitié-Salpêtrière [AP-HP]
Subjects: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, [SDV]Life Sciences [q-bio], Zonisamide, Placebo, Severity of Illness Index, law.invention, Disability Evaluation, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, Randomized controlled trial, law, Sarcoglycans, Severity of illness, mental disorders, medicine, Humans, Dystonia, Cross-Over Studies, Isoxazoles, medicine.disease, Crossover study, Confidence interval, 3. Good health, nervous system diseases, Treatment Outcome, 030104 developmental biology, Dystonic Disorders, Anesthesia, Female, Neurology (clinical), medicine.symptom, Psychology, Myoclonus, 030217 neurology & neurosurgery, Central Nervous System Agents, medicine.drug
Abstract: International audience; Objective: To evaluate the efficacy and safety of zonisamide in patients with myoclonus-dystonia. Methods: We conducted a randomized, double-blind, placebo-controlled crossover trial of zonisamide (300 mg/d) in 24 patients with myoclonus-dystonia. Each treatment period consisted of a 6-week titration phase followed by a 3-week fixed-dose phase. The periods were separated by a 5-week washout period. The co–primary outcomes were action myoclonus severity (section 4 of the Unified Myoclonus Rating Scale [UMRS 4]) and myoclonus-related functional disability (UMRS 5). Secondary outcomes included dystonia severity, assessed with the movement and disability subscales of the Burke-Fahn-Marsden-Dystonia Rating Scale (BFM), the Clinical Global Impression–Improvement scale (CGI), and safety measures. Wilcoxon signed-rank tests for paired data were used to analyze treatment effects. Results: Twenty-three patients (11 men, 12 women) were analyzed in the intention-to-treat analysis. Zonisamide significantly improved both action myoclonus (median improvement [95% confidence limits] −5 [−9.25 to −1.44], p = 0.003) and myoclonus-related functional disability (median improvement [95% confidence limits] −2 [−2.58 to −2.46], p = 0.007) compared to placebo. Zonisamide also significantly improved dystonia (BFM movement) compared to placebo (median improvement [95% confidence limits] −3 [−8.46 to 0.03], p = 0.009). No difference was found between zonisamide and placebo with respect to the CGI (median improvement [95% confidence limits] −1 [−1.31 to 0.09], p = 0.1). Zonisamide was well-tolerated. Conclusions: Zonisamide is well-tolerated and effective on the motor symptoms of myoclonus-dystonia. Classification of evidence: This study provides Class I evidence that zonisamide improves myoclonus and related disability in patients with myoclonus-dystonia
Published: 2016
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34. Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency

Author: Laurent Servais, Bénédicte Héron, Sandrine Vuillaumier, Elsa Kaphan, Domitille Gras, Emmanuel Roze, Raphael Schiffmann, Romain Valabregue, Elodie Hainque, Samantha Caillet, Chris Ottolenghi, Isaac M. Adanyeguh, Agathe Roubertie, Fanny Mochel, Jean-Yves Hogrel, Daisy Rinaldi, 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)-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), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de neuropédiatrie [Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, CHU Trousseau [APHP], Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Neuro-Oncologie [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Center for NeuroImaging Research-Human MRI Neuroimaging core facility for clinical research [ICM Paris] (CENIR), 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)-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), Laboratoire de Biochimie Hormonale et Génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Baylor Research Institute, Baylor College of Medecine, Université Paris Descartes - Paris 5 (UPD5), Laboratoire de Biochimie Métabolique, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-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 ), 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], Service de génétique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Service d'Explorations Fonctionnelles Neurologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré, Service de diabétologie [CHU Pitié-Salpétrière], Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs ( INM ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Montpellier ( UM ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Centre de Neuro-Imagerie de Recherche ( CENIR ), Assistance publique - Hôpitaux de Paris (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Université Paris Descartes - Paris 5 ( UPD5 ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Association française contre les myopathies ( AFM-Téléthon ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], CHU Pitié-Salpêtrière [APHP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Centre de Neuro-Imagerie de Recherche (CENIR), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neuroradiologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC), 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 [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), Service de Diabétologie [CHU Pitié-Salpétrière], and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: Male, 0301 basic medicine, Motor disorder, Magnetic Resonance Spectroscopy, Movement disorders, Phosphocreatine, Pilot Projects, chemistry.chemical_compound, 0302 clinical medicine, Young adult, Child, Glucose Transporter Type 1, Movement Disorders, Middle Aged, 3. Good health, Triheptanoin, Psychiatry and Mental health, METABOLIC DISEASE, Cardiology, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Occipital Lobe, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, Phosphates, Young Adult, 03 medical and health sciences, Chorea, Internal medicine, medicine, Humans, Triglycerides, business.industry, Functional Neuroimaging, Therapeutic effect, medicine.disease, Surgery, 030104 developmental biology, chemistry, [ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), Energy Metabolism, business, Occipital lobe, 030217 neurology & neurosurgery
Abstract: Objective:On the basis of our previous work with triheptanoin, which provides key substrates to the Krebs cycle in the brain, we wished to assess its therapeutic effect in patients with glucose transporter type 1 deficiency syndrome (GLUT1-DS) who objected to or did not tolerate ketogenic diets. Methods:We performed an open-label pilot study with three phases of 2 months each (baseline, treatment and withdrawal) in eight patients with GLUT1-DS (7–47 years old) with non-epileptic paroxysmal manifestations. We used a comprehensive patient diary to record motor and non-motor paroxysmal events. Functional31P-NMR spectroscopy was performed to quantify phosphocreatine (PCr) and inorganic phosphate (Pi) within the occipital cortex during (activation) and after (recovery) a visual stimulus. Results:Patients with GLUT1-DS experienced a mean of 30.8 (±27.7) paroxysmal manifestations (52% motor events) at baseline that dropped to 2.8 (±2.9, 76% motor events) during the treatment phase (p=0.028). After withdrawal, paroxysmal manifestations recurred with a mean of 24.2 (±21.9, 52% motor events; p=0.043). Furthermore, brain energy metabolism normalised with triheptanoin, that is, increased Pi/PCr ratio during brain activation compared to the recovery phase (p=0.021), and deteriorated when triheptanoin was withdrawn. Conclusions:Treatment with triheptanoin resulted in a 90% clinical improvement in non-epileptic paroxysmal manifestations and a normalised brain bioenergetics profile in patients with GLUT1-DS. Trial registration number:NCT02014883.
Published: 2016
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35. A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood

Author: A Roubergue, Mariana Atencio, Marta Ruiz, Aurélie Méneret, Vanessa Brochard, Maryvonne Retail, Samantha Caillet, Sandrine Leroy, Jean-Christophe Corvol, Emmanuel Roze, Elodie Hainque, Florence Habarou, Isaac Adanyeguh, Sophie Rivaud-Péchoux, Benjamin Le Toullec, Chris Ottolenghi, Constance Flamand-Roze, Fanny Mochel, Mohamed Doulazmi, Fanny Charbonnier-Beaupel, Marie Vidailhet, Florence Cormier, BMC, BMC, 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)-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), 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), Centre d'investigation clinique Neurosciences [CHU Pitié Salpêtrière] (CIC Neurosciences), Centre d'investigation clinique pluridisciplinaire [CHU Pitié Salpêtrière] (CIC-P 1421), 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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), EpiScience [London, UK], Service de Neurologie et Unité Neurovasculaire [Centre Hospitalier Sud-Francilien], Université Paris-Sud - Paris 11 (UP11)-Centre Hospitalier Sud Francilien, IFPPC - Institut de formation et de recherche pour les professionnels de la santé & Centre de santé et de thérapies Psycho Corporelles [Paris], CAMKeys [Paris], Service de biochimie métabolique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Adaptation Biologique et Vieillissement = Biological Adaptation and Ageing (B2A), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), 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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU), CHU Saint-Antoine [AP-HP], Groupe de Recherche Clinique Neurométabolique [Paris], Université Pierre et Marie Curie - Paris 6 (UPMC), 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 National de la Recherche Scientifique (CNRS), 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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CH Evry-Corbeil-CH Evry-Corbeil, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), 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)-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 ), 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], Département de Neurologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP)-IFR70-Hôpital de la Salpétrière, CIC Pitié Neurosciences, Assistance publique - Hôpitaux de Paris (AP-HP)-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -CHU Pitié-Salpêtrière [APHP], Service de Diététique [AP-HP Hôpital Pitié-Salpêtrière], AP-HP Hôpital Pitié-Salpétrière, Université Paris-Sud - Paris 11 ( UP11 ) -Centre Hospitalier Sud Francilien, Pharmacie [AP-HP Hôpital Pitié-Salpêtrière], Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Adaptation Biologique et Vieillissement = Biological Adaptation and Ageing ( B2A ), 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 ), Sorbonne Universités, Département de Neurologie [AP-HP Hôpital Saint-Antoine], AP-HP - Hôpital Saint-Antoine, Département de Génétique [AP-HP Hôpital Pitié-Salpêtrière], Université Pierre et Marie Curie - Paris 6 ( UPMC ), 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 [AP-HP], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-IFR70-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP], CHU Pitié-Salpêtrière [APHP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, [SDV]Life Sciences [q-bio], lcsh:Medicine, Hemiplegia, Placebo, Double blind, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Double-Blind Method, ATP1A3, Humans, Medicine, Pharmacology (medical), Ictal, In patient, Triglycerides, Genetics (clinical), Cross-Over Studies, [ SDV ] Life Sciences [q-bio], business.industry, Research, Alternating hemiplegia of childhood, lcsh:R, General Medicine, Triheptanoin, medicine.disease, Crossover trial, Crossover study, 3. Good health, [SDV] Life Sciences [q-bio], 030104 developmental biology, chemistry, Dietary Supplements, Female, business, 030217 neurology & neurosurgery
Abstract: International audience; AbstractBackgroundBased on the hypothesis of a brain energy deficit, we investigated the safety and efficacy of triheptanoin on paroxysmal episodes in patients with alternating hemiplegia of childhood due to ATP1A3 mutations.MethodsWe conducted a randomized, double-blind, placebo-controlled crossover study of triheptanoin, at a target dose corresponding to 30% of daily calorie intake, in ten patients with alternating hemiplegia of childhood due to ATP1A3 mutations. Each treatment period consisted of a 12-week fixed-dose phase, separated by a 4-week washout period. The primary outcome was the total number of paroxysmal events. Secondary outcomes included the number of paroxysmal motor-epileptic events; a composite score taking into account the number, severity and duration of paroxysmal events; interictal neurological manifestations; the clinical global impression-improvement scale (CGI-I); and safety parameters. The paired non-parametric Wilcoxon test was used to analyze treatment effects.ResultsIn an intention-to-treat analysis, triheptanoin failed to reduce the total number of paroxysmal events (p = 0.646), including motor-epileptic events (p = 0.585), or the composite score (p = 0.059). CGI-I score did not differ between triheptanoin and placebo periods. Triheptanoin was well tolerated.ConclusionsTriheptanoin does not prevent paroxysmal events in Alternating hemiplegia of childhood. We show the feasibility of a randomized placebo-controlled trial in this setting.Trial registrationThe study has been registered with clinicaltrials.gov (NCT002408354) the 03/24/2015.
Published: 2016
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36. Teaching Video NeuroImages: Hyperekplexia

Author: Louise-Laure Mariani, Marie Mongin, Emmanuelle Apartis, Emmanuel Roze, and Elodie Hainque
Subjects: medicine.medical_specialty, Neurology, Electrical impedance myography, business.industry, Videotape Recording, 020206 networking & telecommunications, 02 engineering and technology, Audiology, Clonazepam, 03 medical and health sciences, 0302 clinical medicine, 0202 electrical engineering, electronic engineering, information engineering, Reflex, Medicine, natural sciences, Neurology (clinical), Hyperekplexia, medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug
Abstract: A 47-year-old man has had pathologic startles (video at [Neurology.org][1]) since early childhood. Unexpected stimuli triggered startles and rigid traumatic falls in full awareness. Clonazepam markedly reduced abnormal startle and limited falls. Two of his children have similar symptoms. [1]: http://neurology.org/lookup/doi/10.1212/WNL.0000000000003766
Published: 2017
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37. Alternating Upper Limb Monoplegia due to ATP1A3 Mutation

Author: Elodie Hainque, Emmanuel Roze, and Cécile Delorme
Subjects: 0301 basic medicine, medicine.medical_specialty, Hemiplegia, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Internal medicine, ATP1A3, medicine, Humans, Treatment Failure, Dystonia, business.industry, Alternating hemiplegia of childhood, Monoplegia, Chorea, Calcium Channel Blockers, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Neurology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Cardiology, Upper limb, Female, Neurology (clinical), Sodium-Potassium-Exchanging ATPase, medicine.symptom, business, Flunarizine, 030217 neurology & neurosurgery
Published: 2017
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38. A simple blood test expedites the diagnosis of GLUT1 deficiency syndrome

Author: L. Da Costa, Stéphane Auvin, Domitille Gras, Elodie Hainque, Vincent Petit, Sandrine Vuillaumier-Barrot, Marie-Pierre Luton, C. Kappeler, N. Essid, Christelle Cousin, Fanny Mochel, Odile Boespflug-Tanguy, and Emmanuel Roze
Subjects: Pediatrics, medicine.medical_specialty, Deficiency syndrome, medicine.diagnostic_test, business.industry, Simple (abstract algebra), Pediatrics, Perinatology and Child Health, medicine, Blood test, Neurology (clinical), General Medicine, business
Published: 2017
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39. Maladie d’Unverricht-Lundborg : une étude clinique et neurophysiologique de la sphère motrice

Author: Emmanuelle Apartis, Anne Blancher, Elodie Hainque, Sophie Rivaud-Péchoux, Emmanuel Flamand-Roze, Isabelle An, and Valérie Mesnage
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction La maladie genetique autosomique recessive d’Unverricht-Lundborg (ULD) est la plus frequente et la moins severe des epilepsies myocloniques progressives ; son diagnostic est parfois retarde. Objectifs Notre objectif est de caracteriser les dysfonctions permanentes alterant le controle moteur qui generent l’handicap et de rechercher ainsi des indices cliniques et neurophysiologiques orientant vers le diagnostic d’ULD. Methodes Cette etude prospective de 9 patients ULD genetiquement definis a comporte : – une evaluation clinique (echelles) avec enregistrement video ; – une etude des myoclonies (polygraphie musculaire des membres superieurs, inferieurs et de la face, exploration neurophysiologique corticale – EEG, correlations cortico-musculaires, potentiels evoques somesthesiques (PES), reflexes trans-corticaux) ; – un enregistrement de l’oculomotricite (MOC) avec etude des pro-saccades horizontales et verticales ; – une IRM cerebrale. Resultats Les patients ULD avaient en moyenne 34 ans, des myoclonies positives de duree breve (38–41 ms) quel que soit le territoire etudie de conduction pyramidale (100 %), un potentiel cortical pre-myoclonique (88,8 %), des PES geants (78 %) et une onde trans-corticale reflexe (78 %). Les myoclonies participaient a la dysarthrie et au desequilibre. Comparativement aux sujets sains apparies, les patients ULD avaient des vitesses des saccades horizontales et verticales diminuees et une dispersion du gain augmentee. Discussion Le spectre moteur est tres homogene, constitue de myoclonies corticales d’action, multifocales touchant les 4 membres et la face inferieure, sans myoclonies sous-corticales, ni dystonie. L’ataxie cerebelleuse est moderee ou d’evaluation biaisee par les myoclonies d’action, mais confirmee par les MOC. Ces derniers revelent egalement une dysfonction du tronc cerebral. Contrairement a l’IRM cerebrale, les MOC revelent ces deux dysfonctions. Conclusion L’enregistrement des mouvements anormaux et oculaires pourrait etre un element d’orientation diagnostique important dans les epilepsies juveniles pour lesquelles se pose la question d’une forme debutante d’ULD.
Published: 2015
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40. Analysis of pathological tremor behavior: Application to design a passive tremor attenuator

Author: Sarah Gebai, Elodie Hainque, Emmanuel Flamand-Roze, Gilles Foret, Emmanuelle Apartis, Gwendal Cumunel, and Mohammad Hammoud
Subjects: Attenuator (electronics), medicine.medical_specialty, medicine.anatomical_structure, Physical medicine and rehabilitation, Computer science, Work (physics), medicine, Statistical analysis, Wrist, Accelerometer, Passive tremor
Abstract: A total of 144 measurements of the left-hand finger-posture is processed for 3 neurodegenerative disordered patients. The current work concentrates on analyzing the changes in the tremor behavior within the same patient for different hand postural positions repeated for 3 days. The measured datasets represent the 3-directional accelerometer’s signals in addition to the electromyographic (EMG) measurements of the wrist antagonist muscles. The study shows the effect of the muscles behavior on the shape of the tremor movement, the identification of the muscles signals damping ratios, and provides a statistical analysis of the frequency and amplitude of the dominant peak. The obtained measurements serve in providing information useful in the specification of the undesired frequencies for a patient and the design of a tremor suppression device.

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