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1. Combined tendon reflex and motor evoked potential recordings in amyotrophic lateral sclerosis

Author: André Truffert, Eglė Sukockienė, Annaïck Desmaison, Miglė Ališauskienė, Ruxandra Iancu Ferfoglia, and Nathalie Guy
Subjects: Neurology, Physiology (medical), Neurology (clinical), Sensory Systems
Published: 2023
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2. Hemiplegic Migraine Associated With PRRT2 Variations

Author: Florence Riant, Sylvain Redon, Christian Lucas, Laurence Le Moigno, Stéphane Auvin, Diana Ratiu, Agathe Roubertie, Nathalie Guy, Anne Donnet, Antoine Defo, Caroline Roos, Guillaume Baille, François Viallet, Elisabeth Tournier-Lasserve, Cecile Barbance, Alice Cahn, Nicolas Gaillard, Christel Thauvin, Caroline Rey, Florina Cata, Cécile Boulanger, Jessica Hadjadj, Evelyne Massardier, Emmanuel Cheuret, Sylvie Lamoureux, Geneviève Demarquay, Jean-Christophe Cuvellier, Anne Ducros, and Marion Beltramone
Subjects: Proband, medicine.medical_specialty, Sleep disorder, business.industry, Paroxysmal dyskinesia, medicine.disease, Epilepsy, Migraine, ATP1A2, Internal medicine, medicine, Neurology (clinical), business, PRRT2, Familial hemiplegic migraine
Abstract: Background and ObjectivePRRT2 variants have been reported in a few cases of patients with hemiplegic migraine. To clarify the role of PRRT2 in familial hemiplegic migraine, we studied this gene in a large cohort of affected probands.MethodsPRRT2 was analyzed in 860 probands with hemiplegic migraine, and PRRT2 variations were identified in 30 probands. Genotyping of relatives identified a total of 49 persons with variations whose clinical manifestations were detailed.ResultsPRRT2 variations were found in 12 of 163 probands who previously tested negative for CACNA1A, ATP1A2, and SCN1A variations and in 18 of 697 consecutive probands screened simultaneously on the 4 genes. In this second group, pathogenic variants were found in 105 individuals, mostly in ATP1A2 (42%), followed by CACNA1A (26%), PRRT2 (17%), and SCN1A (15%). The PRRT2 variations included 7 distinct variants, 5 of which have already been described in persons with paroxysmal kinesigenic dyskinesia and 2 new variants. Eight probands had a deletion of the whole PRRT2 gene. Among the 49 patients with variations in PRRT2, 26 had pure hemiplegic migraine and 16 had hemiplegic migraine associated with another manifestation: epilepsy (8), learning disabilities (5), hypersomnia (4), or abnormal movement (3). Three patients had epilepsy without migraine: 2 had paroxysmal kinesigenic dyskinesia without migraine, and 1 was asymptomatic.DiscussionPRRT2 should be regarded as the fourth autosomal dominant gene for hemiplegic migraine and screened in any affected patient, together with the 3 other main genes. Further studies are needed to understand how the same loss-of-function PRRT2 variations can lead to a wide range of neurologic phenotypes, including paroxysmal movement disorder, epilepsy, learning disabilities, sleep disorder, and hemiplegic migraine.
Published: 2021
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3. Assessing the upper motor neuron in amyotrophic lateral sclerosis using the triple stimulation technique: A multicenter prospective study

Author: Aude-Marie Grapperon, Annie Verschueren, Elisabeth Jouve, Régine Morizot-Koutlidis, Timothée Lenglet, Pierre-François Pradat, François Salachas, Emilien Bernard, Stéphanie Delstanche, Alain Maertens de Noordhout, Nathalie Guy, Véronique Danel, Arnaud Delval, Emilien Delmont, Anne-Sophie Rolland, null PULSE Study Group, Laurent Jomir, David Devos, François Wang, and Shahram Attarian
Subjects: Male, medicine.medical_specialty, medicine.medical_treatment, Physical medicine and rehabilitation, Physiology (medical), Humans, Medicine, Prospective Studies, Motor Neuron Disease, Amyotrophic lateral sclerosis, Prospective cohort study, Ulnar Nerve, Aged, Motor Neurons, business.industry, Upper motor neuron, Stimulation technique, Amyotrophic Lateral Sclerosis, Middle Aged, Evoked Potentials, Motor, bacterial infections and mycoses, medicine.disease, Transcranial Magnetic Stimulation, Electric Stimulation, Sensory Systems, Transcranial magnetic stimulation, medicine.anatomical_structure, Neurology, Multicenter study, Diagnostic assessment, Female, Neurology (clinical), business, Conduction time
Abstract: Objective To evaluate the relevance of transcranial magnetic stimulation (TMS) using triple stimulation technique (TST) to assess corticospinal function in amyotrophic lateral sclerosis (ALS) in a large-scale multicenter study. Methods Six ALS centers performed TST and conventional TMS in upper limbs in 98 ALS patients during their first visit to the center. Clinical evaluation of patients included the revised ALS Functional Rating Scale (ALSFRS-R) and upper motor neuron (UMN) score. Results TST amplitude ratio was decreased in 62% of patients whereas conventional TMS amplitude ratio was decreased in 25% of patients and central motor conduction time was increased in 16% of patients. TST amplitude ratio was correlated with ALSFRS-R and UMN score. TST amplitude ratio results were not different between the centers. Conclusions TST is a TMS technique applicable in daily clinical practice in ALS centers for the detection of UMN dysfunction, more sensitive than conventional TMS and related to the clinical condition of the patients. Significance This multicenter study shows that TST can be a routine clinical tool to evaluate UMN dysfunction at the diagnostic assessment of ALS patients.
Published: 2021
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4. Hemiplegic Migraine Associated With

Author: Florence, Riant, Caroline, Roos, Agathe, Roubertie, Cécile, Barbance, Jessica, Hadjadj, Stéphane, Auvin, Guillaume, Baille, Marion, Beltramone, Cécile, Boulanger, Alice, Cahn, Florina, Cata, Emmanuel, Cheuret, Jean-Christophe, Cuvellier, Antoine, Defo, Genevieve, Demarquay, Anne, Donnet, Nicolas, Gaillard, Evelyne, Massardier, Nathalie, Guy, Sylvie, Lamoureux, Laurence, Le Moigno, Christian, Lucas, Diana, Ratiu, Sylvain, Redon, Caroline, Rey, Christel, Thauvin, François, Viallet, Elisabeth, Tournier-Lasserve, and Anne, Ducros
Subjects: Migraine Disorders, Migraine with Aura, Mutation, Humans, Membrane Proteins, Hemiplegia, Nerve Tissue Proteins, Pedigree
Published: 2021

5. Effect of familial clustering in the genetic screening of 235 French ALS families

Author: Vincent Meininger, Sylviane Marouillat, François Salachas, Nathalie Guy, Emilien Bernard, Pierre-François Pradat, Annie Verschueren, Patrick Vourc'h, Stéphane Beltran, Pascal Cintas, Christian R. Andres, Débora Lanznaster, William Camu, Rudolph Hergesheimer, Céline Brulard, Sophie Pittion-Vouyovitch, Gwendal Le Masson, Frédéric Laumonnier, Philippe Couratier, Jean-Philippe Camdessanché, Marie-Céline Fleury, Philippe Corcia, Julien Cassereau, Marie-Hélène Soriani, Claude Desnuelle, Fausto Viader, Veronique Danel, Ivan Kolev, Hélène Blasco, Service de Neurologie, CHU Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), UMR U 1253, Université de Montpellier (UM), Service de Neurologie [CHU Limoges], CHU Limoges, Neuroépidémiologie Tropicale (NET), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), CHRU de l'Hôpital de Bellevue, Services de Neurologie [CHU Toulouse], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], centre de références des maladies neuromusculaires, Centre Hospitalier Universitaire de Nice (CHU Nice), Service de Neurologie [CHU Strasbourg], Hôpital de Hautepierre [Strasbourg]-Centre Hospitalier Universitaire de Strasbourg (CHU de Strasbourg ), Centre de compétence de la Sclérose Latérale Amyotrophique [CHU Clermont-Ferrand] (SLA), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Unité de Neurologie, Département de Neurologie, CHU d’Angers, Angers, France, Neuropsychologie et imagerie de la mémoire humaine (NIMH), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Centre Hospitalier Universitaire de Nancy (CHU Nancy), Département de Pharmacologie Médicale [Lille] (Pôle Recherche), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université Lille 2 - Faculté de Médecine, Unite de Neurophysiologie Clinique, Hopital Yves Le Foll, Saint-Brieuc, Service de neurologie [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Université Francois Rabelais [Tours], 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), Hopital universitaire de Lyon, Hôpital Universitaire de Lyon, Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Médecine Nucléaire [Tours], CHU Trousseau [APHP], Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurologie 1 [CHU Pitié-Salpétrière], 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), 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 Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département Neurologie [CHU Toulouse], Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Normandie Université (NU)-Normandie Université (NU)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Faculté de Médecine Henri Warembourg - Université de Lille, and Grelier, Elisabeth
Subjects: Proband, Male, Genotype, DNA Mutational Analysis, Pedigree chart, Biology, TARDBP, 03 medical and health sciences, 0302 clinical medicine, Superoxide Dismutase-1, C9orf72, medicine, Cluster Analysis, Humans, Genetic Testing, Amyotrophic lateral sclerosis, 030304 developmental biology, Aged, Genetics, 0303 health sciences, C9orf72 Protein, Amyotrophic Lateral Sclerosis, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Pedigree, DNA-Binding Proteins, Psychiatry and Mental health, Phenotype, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Mutation (genetic algorithm), Mutation, RNA-Binding Protein FUS, Surgery, Female, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neurology (clinical), Age of onset, 030217 neurology & neurosurgery
Abstract: ObjectivesTo determine whether the familial clustering of amyotrophic lateral sclerosis (ALS) cases and the phenotype of the disease may help identify the pathogenic genes involved.MethodsWe conducted a targeted next-generation sequencing analysis on 235 French familial ALS (FALS), unrelated probands to identify mutations in 30 genes linked to the disease. The genealogy, that is, number of cases and generations with ALS, gender, age, site of onset and the duration of the disease were analysed.ResultsRegarding the number of generations, 49 pedigrees had only one affected generation, 152 had two affected generations and 34 had at least three affected generations. Among the 149 pedigrees (63.4%) for which a deleterious variant was found, an abnormal G4C2 expansion in C9orf72 was found in 98 cases as well as SOD1, TARBP or FUS mutations in 30, 9 and 7 cases, respectively. Considering pedigrees from the number of generations, abnormal G4C2 expansion in C9orf72 was more frequent in pedigrees with pairs of affected ALS cases, which represented 65.2% of our cohort. SOD1 mutation involved all types of pedigrees. No TARDBP nor FUS mutation was present in monogenerational pedigrees. TARDBP mutation predominated in bigenerational pedigrees with at least three cases and FUS mutation in multigenerational pedigrees with more than seven cases, on average, and with an age of onset younger than 45 years.ConclusionOur results suggest that familial clustering, phenotypes and genotypes are interconnected in FALS, and thus it might be possible to target the genetic screening from the familial architecture and the phenotype of ALS cases.
Published: 2021
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6. Medication overuse reinstates conditioned pain modulation in women with migraine

Author: Radhouane Dallel, Nathalie Guy, Daniel L. Voisin, Pierre Clavelou, Aurélien Mulliez, Neuro-Dol (Neuro-Dol), Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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 Gabriel Montpied [Clermont-Ferrand], and CHU Clermont-Ferrand
Subjects: Adult, Pain Threshold, medicine.medical_specialty, Migraine Disorders, Summation, Pain processing, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, 030202 anesthesiology, Headache Disorders, Secondary, medicine, Humans, Prescription Drug Overuse, ComputingMilieux_MISCELLANEOUS, business.industry, General Medicine, medicine.disease, Substance Withdrawal Syndrome, Migraine, Conditioned pain modulation, Anesthesia, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Thermal pain, Neurology (clinical), business, Medication overuse, 030217 neurology & neurosurgery
Abstract: Background This study investigated the effects of medication overuse and withdrawal on modulation of pain processing in women with migraine. Temporal summation of laser-evoked thermal pain was used to measure the effects of conditioned pain modulation. Methods 36 female participants (12 healthy volunteers, 12 with episodic migraine and 12 with medication overuse headache) were included in a two session protocol. Medication overuse headache subjects were also tested three weeks after medication overuse headache withdrawal. Mechanical and laser-evoked thermal pain thresholds were measured on the back of the non-dominant hand where, later, temporal summation of laser-evoked thermal pain to repetitive thermal stimuli was elicited for 30 min, at an intensity producing moderate pain. Between the 10th and 20th minutes, the contralateral foot was immersed into a water bath at a not painful (30℃) or painfully cold (8℃; conditioned pain modulation) temperature. Results Episodic migraine, medication overuse headache and medication overuse headache withdrawal were associated with an increase in extracephalic temporal summation of laser-evoked thermal pain as compared to healthy volunteer subjects, while there was no alteration of laser-evoked thermal and mechanical extracephalic pain thresholds in these subjects. Conditioned pain modulation was highly efficient in temporal summation of laser-evoked thermal pain in healthy volunteer subjects, with a solid post-effect (reduction of pain). Conditioned pain modulation was still present, but reduced, in episodic migraine. By contrast, conditioned pain modulation was normal in medication overuse headache and strongly reduced in medication overuse headache withdrawal. Furthermore, in medication overuse headache withdrawal, the post-effect was no longer a decrease, but a facilitation of pain. Conclusions These data show that a decrease in conditioned pain modulation does not underlie medication overuse headache in women. On the contrary, medication overuse reinstated conditioned pain modulation in female migraine patients. They also identify different phenotypes of pain modulation in migraine patients. Registration number N° 2008-A00471-54.
Published: 2017
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7. Forme juvénile de SLA : l’idée doit FUSer !

Author: Annaïck Desmaison, Stéphanie Millecamps, Nathalie Guy, Pierre Clavelou, CHU Clermont-Ferrand, 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), 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: Neurology, [SCCO.NEUR]Cognitive science/Neuroscience, Neurology (clinical), ComputingMilieux_MISCELLANEOUS
Abstract: Introduction Les formes juveniles de sclerose laterale amyotrophique (FJSLA) sont familiales dans la grande majorite des cas. Recemment, des mutations du gene FUS ont ete identifiees dans un sous-groupe de FJSLA. Observation Une femme de 17 ans, sans antecedent notable, developpe des troubles de la marche d’aggravation progressive, associes a une perte de poids et une asthenie. L’examen clinique retrouve un deficit moteur des quatre membres, predominant a gauche, une amyotrophie du quadriceps, des interosseux et de la loge thenar a gauche et une hyperreflexie aux membres superieurs. Elle ne presente ni trouble sensitif ni signe bulbaire. Un premier EMG retrouve une atteinte neurogene des territoires L3-4-5 et S1. Quatre mois plus tard, elle est tetraparetique et a developpe un syndrome pseudo-bulbaire. L’EMG met en evidence un effondrement des amplitudes des reponses motrices et une atteinte neurogene diffuse. Ces resultats confortent le diagnostic de sclerose laterale amyotrophique (SLA). Elle decede dans l’annee suivant le debut des symptomes. Il n’y a pas d’antecedent neuromusculaire dans sa famille. Les analyses genetiques mettent en evidence la presence d’un variant c.1574c > t a l’etat heterozygote dans le dernier exon du gene FUS qui entraine un changement d’acide amine p.P525L (Proline remplacee par une Leucine) dans la proteine FUS. Ce variant n’a pas ete retrouve chez ses parents. Discussion Les FJSLA ont une duree plus longue que les SLA developpees chez les adultes. Or, le variant c.1574c > t du gene FUS est associe a un phenotype clinique de debut precoce et d’evolution rapide de SLA, le plus souvent sporadique. La proteinopathie qui en resulte s’accumule dans le cytoplasme, induisant une degenerescence des neurones moteurs. Conclusion Ce cas clinique illustre l’importance de faire des analyses genetiques chez des patients developpant une FJSLA, meme en l’absence d’antecedent familial, car il peut s’agir de neomutations.
Published: 2020
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8. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author: Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Rivera, Wouter van Rheenen, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. Van der Spek, Hannah A. Pliner, null Shankaracharya, Bradley N. Smith, Giuseppe Marangi, Simon D. Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D. Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L. Conforti, Giuseppe Borghero, Sonia Messina, Isabella L. Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O. Logullo, Sandra D’Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, Aaron D. Gitler, Tim Harris, Richard M. Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C. Zody, Julia Kaye, Steven Finkbeiner, Stacia K. Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James D. Berry, Timothy M. Miller, Stephen J. Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W. Orrell, Katie C. Sidle, Andrea Malaspina, John Hardy, Andrew B. Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, José Luis Muñoz-Blanco, Dena G. Hernandez, Jinhui Ding, J. Raphael Gibbs, Sonja W. Scholz, Mary Kay Floeter, Roy H. Campbell, Francesco Landi, Robert Bowser, Stefan M. Pulst, John M. Ravits, Daniel J.L. MacGowan, Janine Kirby, Erik P. Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L. Dunckley, Christopher B. Brady, Neil W. Kowall, Juan C. Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D. Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H. Baloh, Tim M. Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R. Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L. McLaughlin, Michael A. Van Es, Markus Weber, Kevin B. Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E. Morrison, A. Nazli Basak, Jesús S. Mora, Vivian E. Drory, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Orla Hardiman, Kelly L. Williams, Jennifer A. Fifita, Garth A. Nicholson, Ian P. Blair, Guy A. Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W. Ostrow, Nicholas J. Maragakis, Jeffrey D. Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A. Goutman, Eva L. Feldman, Summer B. Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, William Camu, John Q. Trojanowski, Vivianna M. Van Deerlin, Robert H. Brown, Leonard H. van den Berg, Jan H. Veldink, Matthew B. Harms, Jonathan D. Glass, David J. Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E. Shaw, Bryan J. Traynor, John E. Landers, Isabella Simone, Giancarlo Logroscino, Ilaria Bartolomei, Maria Rita Murru, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Gianluigi Mancardi, Paola Origone, Paola Mandich, Sebastiano Cavallaro, Kalliopi Marinou, Riccardo Sideri, Silvana Penco, Lorena Mosca, Giuseppe Lauria Pinter, Massimo Corbo, Paola Carrera, Nicola Fini, Antonio Fasano, Lucio Tremolizzo, Alessandro Arosio, Carlo Ferrarese, Gioacchino Tedeschi, Maria Rosaria Monsurrò, Giovanni Piccirillo, Cinzia Femiano, Anna Ticca, Enzo Ortu, Rossella Spataro, Tiziana Colletti, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Marialuisa Santarelli, Antonio Petrucci, Maura Pugliatti, Angelo Pirisi, Leslie D. Parish, Patrizia Occhineri, Fabio Giannini, Claudia Ricci, Michele Benigni, Tea B. Cau, Daniela Loi, Cristina Moglia, Maura Brunetti, Marco Barberis, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Canosa, Antonio Ilardi, Umberto Manera, Maurizio Grassano, Raffaella Tanel, Fabrizio Pisano, Neil A. Shneider, Stephen Goutman, Siddharthan Chandran, Suvankar Pal, George Manousakis, Stanley H. Appel, Ericka Simpson, Leo Wang, Summer Gibson, Richard Bedlack, David Lacomis, Dhruv Sareen, Alexander Sherman, Lucie Bruijn, Michelle Penny, Andrew S. Allen, Stanley Appel, Richard S. Bedlack, Braden E. Boone, Robert Brown, John P. Carulli, Alessandra Chesi, Wendy K. Chung, Elizabeth T. Cirulli, Gregory M. Cooper, Julien Couthouis, Aaron G. Day-Williams, Patrick A. Dion, Yujun Han, Sebastian D. Hayes, Angela L. Jones, Jonathan Keebler, Brian J. Krueger, Brittany N. Lasseigne, Shawn E. Levy, Yi-Fan Lu, Tom Maniatis, Slavé Petrovski, Alya R. Raphael, Zhong Ren, Katherine B. Sims, John F. Staropoli, Lindsay L. Waite, Quanli Wang, Jack R. Wimbish, Winnie W. Xin, Justin Kwan, James R. Broach, Ximena Arcila-Londono, Edward B. Lee, Noah Zaitlen, Gregory A. Cox, Steve Finkbeiner, Efthimios Dardiotis, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos A. Patsopoulos, Joshua Dubnau, Avindra Nath, Stacia Wyman, Alexander LeNail, Jenny Van Eyk, Stephan Züchner, Rebecca Schule, Jacob McCauley, Sumaira Hussain, Anne Cooley, Marielle Wallace, Christine Clayman, Richard Barohn, Jeffrey Statland, John Ravits, Andrea Swenson, Carlayne Jackson, Jaya Trivedi, Shaida Khan, Jonathan Katz, Liberty Jenkins, Ted Burns, Kelly Gwathmey, James Caress, Corey McMillan, Lauren Elman, Erik Pioro, Jeannine Heckmann, Yuen So, David Walk, Samuel Maiser, Jinghui Zhang, Fabiola De Marchi, Stefania Corti, Mauro Ceroni, Gabriele Siciliano, Massimiliano Filosto, Maurizio Inghilleri, Silvia Peverelli, Claudia Colombrita, Barbara Poletti, Luca Maderna, Roberto Del Bo, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Viviana Pensato, Barbara Castellotti, Vincent Meininger, Gérard Besson, Emmeline Lagrange, Pierre Clavelou, Nathalie Guy, Philippe Couratier, Patrick Vourch, Véronique Danel, Emilien Bernard, Gwendal Lemasson, Ahmad Al Kheifat, Peter Andersen, Adriano Chio, Jonathan Cooper-Knock, Annelot Dekker, Vivian Drory, Alberto Garcia Redondo, Marc Gotkine, Winston Hide, Alfredo Iacoangeli, Jonathan Glass, Kevin Kenna, Matthew Kiernan, John Landers, Russell McLaughlin, Jonathan Mill, Miguel Mitne Neto, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Susana Pinto, Sara Pulit, Pamela Shaw, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristel van Eijk, Michael van Es, Joke van Vugt, Jan Veldink, Mayana Zatz, Denis C. Bauer, Natalie A. Twine, Department of Neurosciences, Pentti Tienari / Principal Investigator, Neurologian yksikkö, Research Programs Unit, Clinicum, Research Programme for Molecular Neurology, University of Helsinki, Medicum, Department of Pathology, HUS Neurocenter, Nicolas A., Kenna K.P., Renton A.E., Ticozzi N., Faghri F., Chia R., Dominov J.A., Kenna B.J., Nalls M.A., Keagle P., Rivera A.M., van Rheenen W., Murphy N.A., van Vugt J.J.F.A., Geiger J.T., Van der Spek R.A., Pliner H.A., Shankaracharya, Smith B.N., Marangi G., Topp S.D., Abramzon Y., Gkazi A.S., Eicher J.D., Kenna A., Logullo F.O., Simone I.L., Logroscino G., Salvi F., Bartolomei I., Borghero G., Murru M.R., Costantino E., Pani C., Puddu R., Caredda C., Piras V., Tranquilli S., Cuccu S., Corongiu D., Melis M., Milia A., Marrosu F., Marrosu M.G., Floris G., Cannas A., Capasso M., Caponnetto C., Mancardi G., Origone P., Mandich P., Conforti F.L., Cavallaro S., Mora G., Marinou K., Sideri R., Penco S., Mosca L., Lunetta C., Pinter G.L., Corbo M., Riva N., Carrera P., Volanti P., Mandrioli J., Fini N., Fasano A., Tremolizzo L., Arosio A., Ferrarese C., Trojsi F., Tedeschi G., Monsurro M.R., Piccirillo G., Femiano C., Ticca A., Ortu E., La Bella V., Spataro R., Colletti T., Sabatelli M., Zollino M., Conte A., Luigetti M., Lattante S., Santarelli M., Petrucci A., Pugliatti M., Pirisi A., Parish L.D., Occhineri P., Giannini F., Battistini S., Ricci C., Benigni M., Cau T.B., Loi D., Calvo A., Moglia C., Brunetti M., Barberis M., Restagno G., Casale F., Marrali G., Fuda G., Ossola I., Cammarosano S., Canosa A., Ilardi A., Manera U., Grassano M., Tanel R., Pisano F., Mazzini L., Messina S., D'Alfonso S., Corrado L., Ferrucci L., Harms M.B., Goldstein D.B., Shneider N.A., Goutman S.A., Simmons Z., Miller T.M., Chandran S., Pal S., Manousakis G., Appel S.H., Simpson E., Wang L., Baloh R.H., Gibson S.B., Bedlack R., Lacomis D., Sareen D., Sherman A., Bruijn L., Penny M., Moreno C.D.A.M., Kamalakaran S., Allen A.S., Boone B.E., Brown R.H., Carulli J.P., Chesi A., Chung W.K., Cirulli E.T., Cooper G.M., Couthouis J., Day-Williams A.G., Dion P.A., Gitler A.D., Glass J.D., Han Y., Harris T., Hayes S.D., Jones A.L., Keebler J., Krueger B.J., Lasseigne B.N., Levy S.E., Lu Y.-F., Maniatis T., McKenna-Yasek D., Myers R.M., Petrovski S., Pulst S.M., Raphael A.R., Ravits J.M., Ren Z., Rouleau G.A., Sapp P.C., Sims K.B., Staropoli J.F., Waite L.L., Wang Q., Wimbish J.R., Xin W.W., Phatnani H., Kwan J., Broach J., Arcila-Londono X., Lee E.B., Van Deerlin V.M., Fraenkel E., Ostrow L.W., Baas F., Zaitlen N., Berry J.D., Malaspina A., Fratta P., Cox G.A., Thompson L.M., Finkbeiner S., Dardiotis E., Hornstein E., MacGowan D.J.L., Heiman-Patterson T., Hammell M.G., Patsopoulos N.A., Dubnau J., Nath A., Musunuri R.L., Evani U.S., Abhyankar A., Zody M.C., Kaye J., Wyman S.K., LeNail A., Lima L., Rothstein J.D., Svendsen C.N., Van Eyk J.E., Maragakis N.J., Kolb S.J., Cudkowicz M., Baxi E., Benatar M., Taylor J.P., Wu G., Rampersaud E., Wuu J., Rademakers R., Zuchner S., Schule R., McCauley J., Hussain S., Cooley A., Wallace M., Clayman C., Barohn R., Statland J., Swenson A., Jackson C., Trivedi J., Khan S., Katz J., Jenkins L., Burns T., Gwathmey K., Caress J., McMillan C., Elman L., Pioro E.P., Heckmann J., So Y., Walk D., Maiser S., Zhang J., Silani V., Gellera C., Ratti A., Taroni F., Lauria G., Verde F., Fogh I., Tiloca C., Comi G.P., Soraru G., Cereda C., De Marchi F., Corti S., Ceroni M., Siciliano G., Filosto M., Inghilleri M., Peverelli S., Colombrita C., Poletti B., Maderna L., Del Bo R., Gagliardi S., Querin G., Bertolin C., Pensato V., Castellotti B., Camu W., Mouzat K., Lumbroso S., Corcia P., Meininger V., Besson G., Lagrange E., Clavelou P., Guy N., Couratier P., Vourch P., Danel V., Bernard E., Lemasson G., Laaksovirta H., Myllykangas L., Jansson L., Valori M., Ealing J., Hamdalla H., Rollinson S., Pickering-Brown S., Orrell R.W., Sidle K.C., Hardy J., Singleton A.B., Johnson J.O., Arepalli S., Polak M., Asress S., Al-Sarraj S., King A., Troakes C., Vance C., de Belleroche J., ten Asbroek A.L.M.A., Munoz-Blanco J.L., Hernandez D.G., Ding J., Gibbs J.R., Scholz S.W., Floeter M.K., Campbell R.H., Landi F., Bowser R., Kirby J., Pamphlett R., Gerhard G., Dunckley T.L., Brady C.B., Kowall N.W., Troncoso J.C., Le Ber I., Heiman-Patterson T.D., Kamel F., Van Den Bosch L., Strom T.M., Meitinger T., Shatunov A., Van Eijk K.R., de Carvalho M., Kooyman M., Middelkoop B., Moisse M., McLaughlin R.L., Van Es M.A., Weber M., Boylan K.B., Van Blitterswijk M., Morrison K.E., Basak A.N., Mora J.S., Drory V.E., Shaw P.J., Turner M.R., Talbot K., Hardiman O., Williams K.L., Fifita J.A., Nicholson G.A., Blair I.P., Esteban-Perez J., Garcia-Redondo A., Al-Chalabi A., Al Kheifat A., Andersen P.M., Chio A., Cooper-Knock J., Dekker A., Redondo A.G., Gotkine M., Hide W., Iacoangeli A., Kiernan M., Landers J.E., Mill J., Neto M.M., Pardina J.M., Newhouse S., Pinto S., Pulit S., Robberecht W., Shaw C., Sproviero W., Tazelaar G., Van Damme P., van den Berg L.H., van Vugt J., Veldink J.H., Zatz M., Bauer D.C., Twine N.A., Rogaeva E., Zinman L., Brice A., Feldman E.L., Ludolph A.C., Weishaupt J.H., Trojanowski J.Q., Stone D.J., Tienari P., Shaw C.E., Traynor B.J., ITALSGEN Consortium, Genomic Translation ALS Care GTAC, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Fdn, Clinical Res ALS Related Disorders, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consor, Medical Research Council (MRC), ANS - Complex Trait Genetics, Human Genetics, ARD - Amsterdam Reproduction and Development, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Università cattolica del Sacro Cuore [Roma] (Unicatt), Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1), Lunar and Planetary Laboratory [Tucson] (LPL), University of Arizona, Università degli studi di Torino (UNITO), 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], 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), New York Genome Center [New York], New York Genome Center, Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), St Jude Children's Research Hospital, Howard Hughes Medical Institute [Chevy Chase] (HHMI), Howard Hughes Medical Institute (HHMI), Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours] (SLA CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), University College of London [London] (UCL), Synchrotron SOLEIL (SSOLEIL), Centre National de la Recherche Scientifique (CNRS), King‘s College London, University of New Haven [Connecticut], Princeton University, Laboratoire de Biochimie [CHRU Nîmes], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Helmholtz-Zentrum München (HZM), University Medical Center [Utrecht], Deutsches Forschungszentrum für Künstliche Intelligenz GmbH = German Research Center for Artificial Intelligence (DFKI), Mayo Clinic [Jacksonville], Trinity College Dublin, Maurice Wohl Clinical Neuroscience Institut, Tanz Center Research in Neurodegenerative Diseases [Toronto], University of Toronto, Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Repositório da Universidade de Lisboa, Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P, Renton, Alan E, Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A, Kenna, Brendan J, Nalls, Mike A, Keagle, Pamela, Rivera, Alberto M, van Rheenen, Wouter, Murphy, Natalie A, van Vugt, Joke J F A, Geiger, Joshua T, Van der Spek, Rick A, Pliner, Hannah A, Shankaracharya, Null, Smith, Bradley N, Marangi, Giuseppe, Topp, Simon D, Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D, Kenna, Aoife, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L, Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L, Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O, D'Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, Logullo, Fo, Murru, Mr, Marrosu, Mg, Conforti, Fl, Pinter, Gl, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Parish, Ld, Cau, Tb, Moreno, Cristiane de Araujo Martin, Kamalakaran, Sitharthan, Goldstein, David B, Gitler, Aaron D, Harris, Tim, Myers, Richard M, Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K, Lenail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N, Thompson, Leslie M, Van Eyk, Jennifer E, Berry, James D, Miller, Timothy M, Kolb, Stephen J, Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P, Sorarù, Gianni, Cereda, Cristina, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W, Sidle, Katie C, Malaspina, Andrea, Hardy, John, Singleton, Andrew B, Johnson, Janel O, Arepalli, Sampath, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, Baas, Frank, Ten Asbroek, Anneloor L M A, Muñoz-Blanco, José Lui, Hernandez, Dena G, Ding, Jinhui, Gibbs, J Raphael, Scholz, Sonja W, Floeter, Mary Kay, Campbell, Roy H, Landi, Francesco, Bowser, Robert, Pulst, Stefan M, Ravits, John M, Macgowan, Daniel J L, Kirby, Janine, Pioro, Erik P, Pamphlett, Roger, Broach, Jame, Gerhard, Glenn, Dunckley, Travis L, Brady, Christopher B, Kowall, Neil W, Troncoso, Juan C, Le Ber, Isabelle, Mouzat, Kevin, Lumbroso, Serge, Heiman-Patterson, Terry D, Kamel, Freya, Van Den Bosch, Ludo, Baloh, Robert H, Strom, Tim M, Meitinger, Thoma, Shatunov, Aleksey, Van Eijk, Kristel R, de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Ba, Moisse, Matthieu, Mclaughlin, Russell L, Van Es, Michael A, Weber, Marku, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Morrison, Karen E, Basak, A Nazli, Mora, Jesús S, Drory, Vivian E, Shaw, Pamela J, Turner, Martin R, Talbot, Kevin, Hardiman, Orla, Williams, Kelly L, Fifita, Jennifer A, Nicholson, Garth A, Blair, Ian P, Rouleau, Guy A, Esteban-Pérez, Jesú, García-Redondo, Alberto, Al-Chalabi, Ammar, Rogaeva, Ekaterina, Zinman, Lorne, Ostrow, Lyle W, Maragakis, Nicholas J, Rothstein, Jeffrey D, Simmons, Zachary, Cooper-Knock, Johnathan, Brice, Alexi, Goutman, Stephen A, Feldman, Eva L, Gibson, Summer B, Taroni, Franco, Ratti, Antonia, Gellera, Cinzia, Van Damme, Philip, Robberecht, Wim, Fratta, Pietro, Sabatelli, Mario, Lunetta, Christian, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Camu, William, Trojanowski, John Q, Van Deerlin, Vivianna M, Brown, Robert H, van den Berg, Leonard H, Veldink, Jan H, Harms, Matthew B, Glass, Jonathan D, Stone, David J, Tienari, Pentti, Silani, Vincenzo, Chiò, Adriano, Shaw, Christopher E, Traynor, Bryan J, Landers, John E, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), 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), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)
Subjects: Male, Als gene, Genome-wide association study, FAMILIAL ALS, ALS, axonal transport, cargo, GWAS, KIF5A, WES, WGS, 0302 clinical medicine, 80 and over, Psychology, Aetiology, Aged, 80 and over, 0303 health sciences, French ALS Consortium, Kinesin, KINESIN HEAVY-CHAIN, Cognitive Sciences, Human, Hereditary spastic paraplegia, Neuroscience(all), Single-nucleotide polymorphism, TARGETED DISRUPTION, Article, 03 medical and health sciences, Genetics, Humans, Amino Acid Sequence, Loss function, Aged, HEXANUCLEOTIDE REPEAT, Neuroscience (all), MUTATIONS, Amyotrophic Lateral Sclerosis, 3112 Neurosciences, 1702 Cognitive Science, medicine.disease, ITALSGEN Consortium, Answer ALS Foundation, 030104 developmental biology, ALS Sequencing Consortium, Human medicine, 1109 Neurosciences, 030217 neurology & neurosurgery, 0301 basic medicine, [SDV]Life Sciences [q-bio], Kinesins, Neurodegenerative, Genetic analysis, Genome, AMYOTROPHIC-LATERAL-SCLEROSIS, 3124 Neurology and psychiatry, Cohort Studies, Pathogenesis, Loss of Function Mutation, Missense mutation, 2.1 Biological and endogenous factors, Amyotrophic lateral sclerosis, NYGC ALS Consortium, General Neuroscience, ALS, axonal transport, cargo, GWAS, KIF5A, WES, WGS, Middle Aged, Phenotype, Settore MED/26 - NEUROLOGIA, Neurological, Project MinE ALS Sequencing Consortium, Female, Adult, Biology, GENOTYPE IMPUTATION, Genome-Wide Association Study, Young Adult, NO, Rare Diseases, medicine, SLAGEN Consortium, Gene, 030304 developmental biology, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Neurology & Neurosurgery, Human Genome, Neurosciences, AXONAL-TRANSPORT, Brain Disorders, Family member, DNA-DAMAGE, MOTOR-NEURONS, 3111 Biomedicine, Cohort Studie, Genomic Translation for ALS Care (GTAC) Consortium, Amyotrophic Lateral Sclerosi
Abstract: © 2018 Elsevier Inc., To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
Published: 2018
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9. Maladie de Creutzfeld-Jakob unilatérale : à propos d’un cas probable sur les critères électrocliniques, IRM et biologiques

Author: Catherine Cornut-Chauvinc, F. Taithe, Michel Lauxerois, Nathalie Guy, E. Dionet, Pierre Clavelou, Nicolas Vitello, and Xavier Moisset
Subjects: Left temporal region, Cerebellar ataxia, business.industry, animal diseases, Right hemiparesis, Slow background, Anatomy, Lateralization of brain function, nervous system diseases, Neurology, Aphasia, mental disorders, medicine, Neurology (clinical), medicine.symptom, business
Abstract: We report the case of a 70-year-old man who developed probable unilateral Creutzfeldt-Jakob disease. Clinically, he presented with right hemiparesis, progressive aphasia, temporospatial disorientation and cerebellar ataxia and later on, myoclonia. The MRI showed a hypersignal from the left caudate in DWI with decreased ADC. Repeated electroencephalograms showed a slow background rhythm in the left hemisphere with superimposed periodic, biphasic and triphasic sharp-wave complexes in the left temporal region. Death occurred after 5weeks. Although exceptional, unilateral Creutzfeldt-Jakob disease was retained as possible.
Published: 2013
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10. Early diaphragm pacing to delay non-invasive ventilation in patients with amyotrophic lateral sclerosis (RespiStimALS): A multicenter, triple-blind, randomized controlled trial

Author: Thomas Similowski, Valérie Attali, Jesus Gonzalez Bermejo, Vincent Meininger, Capucine Morélot-Panzini, Nathalie Guy, Tanguy Marie Laure, Christophe Perrin, Claude Desnuelle, François Salachas, Hélène Prigent, Nierat Marie-Cecile, and Philippe Couratier
Subjects: medicine.medical_specialty, Vital capacity, Randomization, business.industry, medicine.disease, Surgery, law.invention, Diaphragm pacing, Respiratory failure, Randomized controlled trial, law, Medicine, Respiratory system, Amyotrophic lateral sclerosis, business, Phrenic nerve
Abstract: Background. Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder associated with respiratory muscle weakness and respiratory failure. Non invasive ventilation (NIV) alleviates respiratory symptoms and prolongs life but delaying NIV in ALS is therefore desirable. We aimed to establish whether early diaphragm pacing could achieve this objective. Methods. Multicenter randomized controlled trial involving 12 French multidisciplinary ALS centers. Eligible patients had moderate ALS-related respiratory involvement (forced vital capacity 60-80 % predicted). All patients were operated laparoscopically and received an intradiaphragmatic phrenic nerve stimulator (NeuRxRA4®, Synapse Biomedical, USA). They were then randomly assigned to active or sham stimulation. The primary outcome was NIV free survival. Investigators and patients were blinded to treatment. NIV was decided by an external allocation panel (triple blind design). Results. we randomly assigned 74 participants to active (n=37) or sham (n=37) stimulation. The median NIV free survival since randomization was 6.0 months in the active stimulation group, vs. 8.8 months in the sham stimulation group (p = 0.02). Sixty-five percent of the patients in the active group experienced severe adverse events, vs. 59%. Median overall survival from randomization was 15.6 months (95%CI 9-27) in the active group, vs. more than 33 months (p = 0.007). Conclusions. Early diaphragm pacing in ALS patients with incipient respiratory involvement did not delay NIV and was associated with decreased survival.
Published: 2016
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11. Early diaphragm pacing in patients with amyotrophic lateral sclerosis (RespiStimALS): a randomised controlled triple-blind trial

Author: Christophe Perrin, Marie-Cécile Niérat, Thomas Similowski, Jésus Gonzalez-Bermejo, Philippe Couratier, Catherine Fargeot, Claude Desnuelle, Capucine Morélot-Panzini, Marie-Laure Tanguy, Timothée Lenglet, Gaëlle Bruneteau, Catherine Royer, Valérie Attali, Vincent Meininger, François Salachas, Nathalie Guy, Nadine Le Forestier, Pierre-François Pradat, Hélène Prigent, and Fabrice Menegaux
Subjects: Male, medicine.medical_specialty, Population, Diaphragm, Electric Stimulation Therapy, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Double-Blind Method, law, medicine, Humans, Respiratory system, education, Phrenic nerve, Aged, education.field_of_study, business.industry, Amyotrophic Lateral Sclerosis, Middle Aged, Respiration Disorders, Respiration, Artificial, Hypoventilation, Diaphragm (structural system), Surgery, Phrenic Nerve, Diaphragm pacing, 030228 respiratory system, Respiratory failure, Anesthesia, Early Termination of Clinical Trials, Female, Laparoscopy, Neurology (clinical), medicine.symptom, business, Respiratory Insufficiency, 030217 neurology & neurosurgery
Abstract: Summary Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder associated with respiratory muscle weakness and respiratory failure. Non-invasive ventilation alleviates respiratory symptoms and prolongs life, but is a palliative intervention. Slowing the deterioration of diaphragm function before respiratory failure would be desirable. We aimed to assess whether early diaphragm pacing could slow down diaphragm deterioration and would therefore delay the need for non-invasive ventilation. Methods We did a multicentre, randomised, controlled, triple-blind trial in patients with probable or definite ALS in 12 ALS centres in France. The main inclusion criterion was moderate respiratory involvement (forced vital capacity 60–80% predicted). Other key eligibility criteria were age older than 18 years and bilateral responses of the diaphragm to diagnostic phrenic stimulation. All patients were operated laparoscopically and received phrenic stimulators. Clinicians randomly assigned patients (1:1) to receive either active or sham stimulation with a central web-based randomisation system (computer-generated list). Investigators, patients, and an external outcome allocation committee were masked to treatment. The primary outcome was non-invasive ventilation-free survival, analysed in the intention-to-treat population. Safety outcomes were also assessed in the intention-to-treat population. This trial is registered with ClinicalTrials.gov, number NCT01583088. Findings Between Sept 27, 2012, and July 8, 2015, 74 participants were randomly assigned to receive either active (n=37) or sham (n=37) stimulation. On July 16, 2015, an unplanned masked analysis was done after another trial showed excess mortality with diaphragm pacing in patients with hypoventilation (DiPALS, ISRCTN 53817913). In view of this finding, we analysed mortality in our study and found excess mortality (death from any cause) in our active stimulation group. We therefore terminated the study on July, 16, 2015. Median non-invasive ventilation-free survival was 6·0 months (95% CI 3·6–8·7) in the active stimulation group versus 8·8 months (4·2–not reached) in the control (sham stimulation) group (hazard ratio 1·96 [95% CI 1·08–3·56], p=0·02). Serious adverse events (mainly capnothorax or pneumothorax, acute respiratory failure, venous thromboembolism, and gastrostomy) were frequent (24 [65%] patients in the active stimulation group vs 22 [59%] patients in the control group). No treatment-related death was reported. Interpretation Early diaphragm pacing in patients with ALS and incipient respiratory involvement did not delay non-invasive ventilation and was associated with decreased survival. Diaphragm pacing is not indicated at the early stage of the ALS-related respiratory involvement. Funding Hospital Program for Clinical Research, French Ministry of Health; French Patients' Association for ALS Research (Association pour la Recherche sur la Sclerose Laterale Amyotrophique); and Thierry de Latran Foundation.
Published: 2016

12. La recherche sur la SLA en 2009 : compte rendu du groupe bibliographique de la coordination des centres SLA

Author: P.-F. Pradat, Marie-Hélène Soriani, T. Perez, S. Attarian, Nathalie Guy, J.-P. Camdessanché, Laurence Carluer, Annie Verschueren, Jésus Gonzalez-Bermejo, P. Corcia, Andoni Echaniz-Laguna, Guillaume Nicolas, Pascal Cintas, and Nadia Vandenberghe
Subjects: business.industry, SOD1, Frontotemporal lobar degeneration, Disease, Environmental exposure, Bioinformatics, medicine.disease, Neuroprotection, TARDBP, Neurology, Medicine, Neurology (clinical), Glatiramer acetate, Amyotrophic lateral sclerosis, business, Neuroscience, medicine.drug
Abstract: This paper, written by French amyotrophic lateral sclerosis (ALS) center experts, presents an update of recent advances in fundamental, epidemiological and clinical research in ALS based on a review of the literature between September 2008 and November 2009. Among other pathophysiological mechanisms, the role of stress of the endoplasmic reticulum and the importance of energetic metabolic disturbances have been underscored. In the field of genetics, research has been advanced through the identification of mutations of the gene FUsed in Sarcoma/Translated in LipoSarcoma (FUS/TLS) in individuals with familial and sporadic ALS. This gene is involved in the regulation of transcription, splicing and RNA transport, and has functional homology to another ALS gene, TARDBP, which suggests that a common mechanism may underlie motor neuron degeneration. A report showed that mice expressing a mutant form of human TDP-43 develop a progressive and fatal neurodegenerative disease reminiscent of both ALS and frontotemporal lobar degeneration with ubiquitin aggregates (FTLD-U), providing a new animal model that may help to better understand the pathophysiology and test new therapeutics. Beside genetic studies, several epidemiologic studies have investigated the role of environmental factors. A recent study suggests that smoking is a risk factor for developing ALS and it is hypothesized that this could occur through lipid peroxidation via formaldehyde exposure. From a neuroprotective perspective, trials with IGF-1, sodium valproate, coenzyme Q or glatiramer acetate have failed to demonstrate any beneficial effect. A study published in 2008 argued that lithium may have a neuroprotective effect in ALS mice and also in patients. However, two preclinical studies failed to replicate the neuroprotective effect of lithium in ALS mice. Therapeutic trials have been performed or are currently ongoing in Europe and North America. Their results have not yet been published.
Published: 2010
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13. Are there differences between cephalic and extracephalic cutaneous allodynia in migraine patients?

Author: Pierre Clavelou, Thierry Orliaguet, Michel Lantéri-Minet, Nathalie Guy, Radhouane Dallel, and Ana Marques
Subjects: Adult, Male, Central sensitization, Hyperesthesia, business.industry, Migraine Disorders, Thermal Allodynia, Pain, General Medicine, medicine.disease, Mechanical Allodynia, Migraine, Episodic migraine, Surveys and Questionnaires, Anesthesia, medicine, Humans, Female, Neurology (clinical), business, Head, Skin, Cutaneous allodynia
Abstract: Cutaneous allodynia (CA), pain in response to innocuous cutaneous stimuli, is recognized as a sign of central sensitization during migraine episodes. It is either restricted within the pain area on the ipsilateral head, or extends within and outside the head. Moreover, CA can be elicited in response to thermal (heat or cold) and/or mechanical stimuli. This raises the question as to whether cephalic and extracephalic CAs share the same properties. We assessed cephalic and extracephalic CAs in migraine episodic patients using a questionnaire completed at home during migraine attacks. A total of 67 episodic migraine patients (58 women, nine men; 40 ± 13 years old) addressed all questions in the questionnaire. Forty-nine patients (73%) cited one or more allodynic symptoms during or immediately after the migraine attack. Almost all 49 patients reported cephalic CA, whereas 24 (49%) also reported extracephalic CA. Occurrence and extension of CA correlated ( P = 0.005) with headache intensity. Modalities of cephalic and extracephalic CA were different (χ2 = 12.03; P = 0.002), extracephalic CA being mostly thermal (75%) whereas cephalic CA was mostly mechanical (92%). This suggests that cephalic and extracephalic CAs involve different mechanisms.
Published: 2009
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14. One or Several Types of Triptan Overuse Headaches?

Author: Fatima Nachit-Ouinekh, Michel Lanteri-Minet, Nelly Fabre, Evelyne Guegan-Massardier, Françoise Radat, Nathalie Guy, Christelle Créac’h, Gérard Mick, and Pierric Giraud
Subjects: Adult, Male, medicine.medical_specialty, Pediatrics, Photophobia, Cross-sectional study, Observation, Neurological disorder, Neuropsychological Tests, Young Adult, medicine, Humans, Young adult, Aged, Retrospective Studies, business.industry, Headache, Retrospective cohort study, Middle Aged, medicine.disease, Tryptamines, Serotonin Receptor Agonists, Cross-Sectional Studies, Neurology, Migraine, Physical therapy, Female, International Classification of Headache Disorders, Neurology (clinical), medicine.symptom, Headaches, business
Abstract: Background.—Whereas the clinical features of pure triptan overuse headache (TOH) are well known, there are insufficient data regarding the semiological pattern of headaches when triptan overuse is associated with other types of medication overuse. Objective.—To investigate and compare the clinical characteristics of patients with pure TOH and those with medication overuse headaches associating triptan and other medication overuses (combined TOH). Methods.—This cross-sectional, observational study was conducted in 7 tertiary-care headache centers participating in the French Observatory of Migraine and Headaches. From 2004 to 2006, data from 163 patients with TOH were collected in face-to-face structured interviews (according to the International Classification of Headache Disorders, 2nd edition criteria). Results.—Eighty-two patients fulfilled criteria for pure TOH (pTOH patients) and 81 for combined TOH (cTOH) patients. Continuous headaches were reported in 76% of cTOH patients compared with 32% of pTOH patients. Significantly more frequent and severe headaches and more intense phono-/photophobia between attacks were noted in cTOH patients. More cTOH than pTOH patients reported a history of tension-type headaches and a long-standing history of chronic headaches. Finally, compared with pTOH patients, cTOH patients were characterized by stronger dependence on acute treatments of headaches according to the DSM-IV criteria. Conclusions.—Combined therapy with analgesics and/or the total number of drug units taken per day may cause a shift from a pattern of clear-cut headache attacks in patients with pTOH toward more severe clinical presentation in patients with cTOH. These patients should receive more intensive prophylactic therapy and specific behavioral management.
Published: 2009
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15. Les méfaits d’Internet dans les traitements de la sclérose latérale amyotrophique

Author: I. Kolev, D. Lardillier-Noel, Sophie Pittion, A. Furby, Annie Verschueren, Michel Dib, Marie-Hélène Soriani, J. Gonzales, Véronique Danel-Brunaud, François Salachas, Fausto Viader, Lucette Lacomblez, Pascal Cintas, Maurice Giroud, Christophe Vial, J.-P. Camdessanché, William Camu, Alain Destée, M. C. Arne-Bes, Laurence Carluer, E. Rousso, Christine Tranchant, Jean Pouget, D. Maugin, Philippe Couratier, N. Le Forestier, Guillaume Nicolas, P.-F. Pradat, Nadia Vandenberghe, Nathalie Guy, Jean-Christophe Antoine, Pierre Clavelou, Marie-Céline Fleury, Claude Desnuelle, Gaëlle Bruneteau, Emmanuel Broussolle, P. Corcia, and Vincent Meininger
Subjects: 0303 health sciences, 03 medical and health sciences, 0302 clinical medicine, Neurology, business.industry, Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, 030304 developmental biology
Published: 2009
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16. Behavioral Dependence in Patients With Medication Overuse Headache: A Cross-Sectional Study in Consulting Patients Using the DSM-IV Criteria

Author: Gérard Mick, Françoise Radat, Nathalie Guy, Evelyne Guegan-Massardier, Fatima Nachit-Ouinekh, Nelly Fabre, Christelle Créac’h, Pierric Giraud, and Michel Lanteri-Minet
Subjects: Adult, Male, medicine.medical_specialty, Substance-Related Disorders, Triptans, Hospital Anxiety and Depression Scale, Internal medicine, Headache Disorders, Secondary, medicine, Humans, Psychiatry, Depression (differential diagnoses), Analgesics, Substance dependence, business.industry, Middle Aged, medicine.disease, Behavior, Addictive, Diagnostic and Statistical Manual of Mental Disorders, Cross-Sectional Studies, Neurology, Migraine, Anxiety, Female, International Classification of Headache Disorders, Neurology (clinical), Headaches, medicine.symptom, business, medicine.drug
Abstract: Objective.— The aim of this study was to assess behavioral dependence on migraine abortive drugs in medication-overuse headache (MOH) patients and identify the predisposing factors. Background.— It is common occurrence that MOH patients relapse after medication withdrawal. Behavioral determinants of medication overuse should therefore be identified in MOH patients. Methods.— This was a cross-sectional, multicenter study that included 247 MOH patients (according to International Classification of Headache Disorders, 2nd edition criteria) consulting in French headache specialty centers. Face-to-face interviews were conducted by senior neurologists using a structured questionnaire including the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV) criteria for the evaluation of dependence, Hospital Anxiety and Depression Scale for the evaluation of anxiety and depression, and 6-item short-form Headache Impact Test scale for the determination of functional impact. Results.— Most MOH patients had pre-existing primary migraine (87.4%) and current migraine-type headaches (83.0%). Treatments overused included triptans (45.8%), opioid analgesics alone or in combination (43.3% of patients), and analgesics (27.9%). Nonmigraine abortive substances (tobacco, caffeine, sedatives/anxiolytics) were overused by 13.8% of patients. Two-thirds of MOH patients (66.8%) were considered dependent on acute treatments of headaches according to the DSM-IV criteria. Most dependent MOH patients had migraine as pre-existing primary headache (85.7%) and current migraine-type headaches (87.9%), and most of them overused opioid analgesics. More dependent than nondependent MOH patients were dependent on psychoactive substances (17.6% vs 6.1%). Multivariate logistic analysis indicated that risk factors of dependence on acute treatments of headaches pertained both to the underlying disease (history of migraine, unilateral headaches) and to drug addiction (opioid overuse, previous withdrawal). Affective symptoms did not appear among the predictive factors of dependence. Conclusion.— In some cases, MOH thus appears to belong to the spectrum of addictive behaviors. In clinical practice, behavioral management of MOH should be undertaken besides pharmacological management.
Published: 2008
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17. Evaluation of the application of the European guidelines for the diagnosis and clinical care of amyotrophic lateral sclerosis (ALS) patients in six French ALS centres

Author: Géraldine Lautrette, Jean-Philippe Camdessanché, Nathalie Guy, Philippe Couratier, Pascal Cintas, G Lemasson, E Bernard, Pierre-Marie Preux, Jean-Christophe Antoine, Ettore Beghi, C Vial, Giancarlo Logroscino, Pierre Clavelou, S Debruxelles, and Benoît Marin
Subjects: Clinical audit, Male, medicine.medical_specialty, Referral, 03 medical and health sciences, 0302 clinical medicine, Multidisciplinary approach, Interquartile range, medicine, Humans, 030212 general & internal medicine, Amyotrophic lateral sclerosis, Genetic testing, Aged, medicine.diagnostic_test, business.industry, Amyotrophic Lateral Sclerosis, Middle Aged, medicine.disease, Clinical research, Neurology, Practice Guidelines as Topic, Physical therapy, Observational study, Female, Neurology (clinical), France, Guideline Adherence, business, 030217 neurology & neurosurgery
Abstract: Background and purpose Our objective was to evaluate the extent to which the 2005 recommendations of the European Federation of Neurological Sciences (EFNS) on the multidisciplinary management of amyotrophic lateral sclerosis (ALS) are followed in clinical practice. Methods This was a multicentre observational study involving six French ALS referral centres receiving prevalent and incident cases. Recommendations were translated into ad hoc questions referring to key aspects of management, and their application was evaluated by a clinical research assistant who independently examined the medical charts (MCs). When necessary, an independent board-certified neurologist answered the questions based on examination of the MC and interview of the caring neurologist. Questions regarding diagnosis and communication were put to patients in a self-administered questionnaire. Results In all, 376 patients [176 incident, 200 prevalent cases; median age at diagnosis 62.8 years (interquartile range 55.7–72.3); sex ratio 1.37; 27.3% bulbar onset] were included. All the topics covered in the recommendations were evaluated: diagnostic delay (e.g. mean 13.6 months, associated with age and onset); breaking the news (e.g. criteria for communication quality were satisfactory in more than 90%); multidisciplinary and sustained support (e.g. clinic visits were scheduled every 2–3 months in 90%). Also considered were whether riluzole had been offered, symptom management, genetic testing, ventilation, communication defects, enteral nutrition, palliative and end-of-life care. Characteristics associated with poor compliance with some guidelines (schedule of visits, delayed riluzole initiation) were also identified. Conclusion This is the first evaluation of the application of the EFNS recommendations for the management of ALS in a nationwide sample. The results allow us to highlight areas for improvement.
Published: 2015

18. Genetic influence on the clinical characteristics and outcome of febrile seizures—a retrospective study

Author: Patrick Cossette, Nathalie Guy, Anne Lortie, Ala Birca, Isabel Fortier, and Lionel Carmant
Subjects: Male, medicine.medical_specialty, Pediatrics, Medical Records, Seizures, Febrile, Epilepsy, Recurrence, Risk Factors, Epidemiology, medicine, Humans, Genetic Predisposition to Disease, Family history, Generalized epilepsy, Risk factor, Child, Retrospective Studies, Partial epilepsy, business.industry, Retrospective cohort study, General Medicine, medicine.disease, Child, Preschool, Pediatrics, Perinatology and Child Health, Epilepsy, Generalized, Female, Epilepsies, Partial, Neurology (clinical), business
Abstract: Summary Purpose To assess the influence of the family history (FH) of epilepsy or febrile seizures (FSs) on the clinical presentation of FSs and on their outcome. Methods We reviewed the charts of 482 children admitted to the Ste-Justine Hospital with FSs between 3 months and 6 years of age and followed for at least 5 years. Results Children with a positive FH of epilepsy (n=67) showed significantly more focal and recurrent FSs than those without such a FH. The risk of developing partial epilepsy (n=17) or generalized epilepsy (n=19) was significantly greater in children with focal or recurrent FSs, respectively. In children with focal FSs, only two out of 30 (6.7%) children with a negative FH of epilepsy developed partial epilepsy compared with four out of nine (44.4%) children with a positive FH. In children with recurrent FSs, as much as seven out of 34 (20.6%) children with a positive FH of epilepsy developed generalized epilepsy compared to only eight out of 161 (0.05%) of those with a negative FH. Nevertheless, when not taking into account the clinical presentation of FSs, the positive FH of epilepsy constituted a risk factor for developing generalized but not partial epilepsy. Finally, children with a positive FH of FSs (n=120) exhibited significantly more recurrent FSs than those without such a FH, but this did not modify the risk of epilepsy. Conclusion The FH of FSs and/or epilepsy should be taken into account when evaluating the risk of FSs recurrence and of epilepsy.
Published: 2005
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19. Both oral and caudal parts of the spinal trigeminal nucleus project to the somatosensory thalamus in the rat

Author: Nathalie Guy, Maryse Chalus, Daniel L. Voisin, and Radhouane Dallel
Subjects: General Neuroscience, Thalamus, Spinal trigeminal nucleus, Anatomy, Biology, Somatosensory system, Retrograde tracing, Electrophysiology, Nociception, medicine.anatomical_structure, Noxious stimulus, medicine, Brainstem, Neuroscience
Abstract: Recent evidence has been accumulated that not only spinal trigeminal nucleus caudalis (Sp5C) neurons but also spinal trigeminal nucleus oralis (Sp5O) neurons respond to noxious stimuli. It is unknown, however, whether Sp5O neurons project to supratrigeminal structures implicated in the sensory processing of orofacial nociceptive information. This study used retrograde tracing with Fluorogold in rats to investigate and compare the projections from the Sp5O and Sp5C to two major thalamic nuclei that relay ascending somatosensory information to the primary somatic sensory cortex: the ventroposteromedial thalamic nucleus (VPM) and the posterior thalamic nuclear group (Po). Results not only confirmed the existence of contralateral projections from the Sp5C to the VPM and Po, with retrogradely labelled neurons displaying a specific distribution in laminae I, III and V, they also showed consistent and similar numbers of retrogradely labelled cell bodies in the contralateral Sp5O. In addition, a topographic distribution of VPM projections from Sp5C and Sp5O was found: neurons in the dorsomedial parts of Sp5O and Sp5C projected to the medial VPM, neurons in the ventrolateral Sp5O and Sp5C projected to the lateral VPM, and neurons in intermediate parts of Sp5O and Sp5C projected to the intermediate VPM. All together, these data suggest that not only the Sp5C, but also the Sp5O relay somatosensory orofacial information from the brainstem to the thalamus. Furthermore, trigemino-VPM pathways conserve the somatotopic distribution of primary afferents found in each subnucleus. These results thus improve our understanding of trigeminal somatosensory processing and help to direct future electrophysiological investigations.
Published: 2005
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20. Cerebral responses and role of the prefrontal cortex in conditioned pain modulation: an fMRI study in healthy subjects

Author: Volodymyr B. Bogdanov, Radhouane Dallel, Christophe Phillips, Steven Laureys, Jean Schoenen, Olena V. Bogdanova, Alessandro Viganò, Nathalie Guy, Perry F. Renshaw, Quentin Noirhomme, Nutrition et Neurobiologie intégrée (NutriNeuro), Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA)-Université Sciences et Technologies - Bordeaux 1-Institut Polytechnique de Bordeaux-Ecole nationale supérieure de chimie, biologie et physique, Université de Liège, Université de Bordeaux Ségalen [Bordeaux 2], Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Department of Neurology and Psychiatry, Cyclotron Research Centre, University of Utah, Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), CHU Clermont-Ferrand, Neuro-Dol (Neuro-Dol), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Department of Electrical Engineering and Computer Science (Institut Montefiore), National Fund for Scientific Research-Belgium 3.4.650.09, CHU of Clermont-Ferrand-France, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA)-Université Sciences et Technologies - Bordeaux 1 (UB)-Institut Polytechnique de Bordeaux-Ecole nationale supérieure de chimie, biologie et physique, and Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA)
Subjects: Adult, Pain Threshold, Hot Temperature, Individuality, Precuneus, Pain, Brain imaging, Stimulus (physiology), perception, Brain mapping, Prefrontal cortex, noxious inhibitory control, stimulation, Article, Young Adult, Behavioral Neuroscience, Conditioning, Psychological, Threshold of pain, medicine, Humans, Conditioned pain modulation, Habituation, cold pressor challenge, Pain Measurement, Cerebral Cortex, Brain Mapping, musculoskeletal, neural, and ocular physiology, Middle Aged, Magnetic Resonance Imaging, tension-type headache, Healthy Volunteers, placebo analgesia, Cold Temperature, medicine.anatomical_structure, Cerebral cortex, periaqueductal gray, connectivity, brain response, Female, activation, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Psychology, Neuroscience, Insula
Abstract: International audience; The mechanisms underlying conditioned pain modulation (CPM) are multifaceted. We searched for a link between individual differences in prefrontal cortex activity during multi-trial heterotopic noxious cold conditioning and modulation of the cerebral response to phasic heat pain. In 24 healthy female subjects, we conditioned laser heat stimuli to the left hand by applying alternatively ice-cold or lukewarm compresses to the right foot. We compared pain ratings with cerebral fMRI BOLD responses. We also analyzed the relation between CPM and BOLD changes produced by the heterotopic cold conditioning itself, as well as the impact of anxiety and habituation of cold-pain ratings. Specific cerebral activation was identified in precuneus and left posterior insula/SII, respectively, during early and sustained phases of cold application. During cold conditioning, laser pain decreased (n=7), increased (n=10) or stayed unchanged (n=7). At the individual level, the psychophysical effect was directly proportional to the cold-induced modulation of the laser-induced BOLD response in left posterior insula/SII. The latter correlated with the BOLD response recorded 80s earlier during the initial 10-s phase of cold application in anterior cingulate, orbitofrontal and lateral prefrontal cortices. High anxiety and habituation of cold pain were associated with greater laser heat-induced pain during heterotopic cold stimulation. The habituation was also linked to the early cold-induced orbitofrontal responses. We conclude that individual differences in conditioned pain modulation are related to different levels of prefrontal cortical activation by the early part of the conditioning stimulus, possibly due to different levels in trait anxiety.
Published: 2015
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21. Migraine et allodynies sensorielles: aspects cliniques et neurophysiologiques

Author: Pierre Clavelou, Nathalie Guy, and Radhouane Dallel
Subjects: Anesthesiology and Pain Medicine, Philosophy, Humanities
Abstract: La crise de migraine, est souvent accompagnee de nombreux troubles sensoriels. En effet, les patients presentent frequemment une hypersensibilite a de nombreux stimuli tels que le deplacement de la tete, la lumiere ou le bruit, et le tact aussi bien dans qu’a distance du territoire trigeminal. Ces symptomes s’apparentent a une allodynie. L’inflammation neurogene, l’alteration des controles descendants issus des noyaux pontiques et les modifications de l’excitabilite des neurones centraux trigeminaux, thalamiques et corticaux sont actuellement les principales hypotheses physiopathologiques proposees pour expliquer le developpement de la migraine et des symptomes associes. Cependant ces donnees n’expliquent pas encore le mecanisme generateur de la migraine, ni la cascade d’evenements qui aboutit au declenchement de la crise. De meme, les liens entre facteurs declenchant et la crise elle-meme ne sont pas encore clairement etablis.
Published: 2002
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22. Migraine headaches and pain with neuropathic characteristics: comorbid conditions in patients with multiple sclerosis

Author: Lemlih Ouchchane, Nathalie Guy, Dimitri J. Bayle, Xavier Moisset, Radhouane Dallel, Pierre Clavelou, Neuro-Dol (Neuro-Dol), Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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, Image Science for Interventional Techniques (ISIT), Université d'Auvergne - Clermont-Ferrand I (UdA)-Clermont Université-Centre National de la Recherche Scientifique (CNRS), Service d‟Odontologie, CHU Clermont-Ferrand-Université d'Auvergne - Clermont-Ferrand I (UdA)-CHU Estaing [Clermont-Ferrand], and CHU Clermont-Ferrand
Subjects: Male, MESH: Neuralgia, MESH: Comorbidity, Disease, Comorbidity, Neuropathic pain, Cohort Studies, 0302 clinical medicine, Quality of life, Surveys and Questionnaires, 030212 general & internal medicine, 10. No inequality, MESH: Cohort Studies, MESH: Middle Aged, Headache, MESH: Migraine Disorders, Middle Aged, Neurology, Cohort, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, France, Headaches, medicine.symptom, Adult, medicine.medical_specialty, Multiple Sclerosis, Migraine Disorders, Pain, 03 medical and health sciences, Internal medicine, medicine, Humans, Migraine, Expanded Disability Status Scale, MESH: Humans, business.industry, Multiple sclerosis, MESH: Questionnaires, MESH: Adult, MESH: Multiple Sclerosis, medicine.disease, MESH: Male, MESH: France, Anesthesiology and Pain Medicine, Physical therapy, Neuralgia, Neurology (clinical), business, MESH: Female, 030217 neurology & neurosurgery
Abstract: International audience; We conducted a postal survey to assess the prevalence and characteristics of neuropathic pain and migraine in a cohort of multiple sclerosis (MS) patients. Of the 1300 questionnaires sent, 673 could be used for statistical analysis. Among the respondents, the overall pain prevalence in the previous month was 79%, with 51% experiencing pain with neuropathic characteristics (NCs) and 46% migraine. MS patients with both migraine and NC pain (32% of the respondents) reported more severe pain and had lower health-related quality of life than MS patients with either migraine or NC pain. Pain intensity in MS patients with migraine was moderate (6.0 ± 0.1). Migraine was mostly episodic, but headaches were occurring on ≥15 days per month in 15% of those with migraine. MS patients with migraine were younger and had shorter disease durations than those with NC pain. NC pain was most often located in the extremities, back and head, and was frequently described as tingling and pins-and-needles. The intensity of NC pain was low to moderate (4.9 ± 0.1), but positively correlated with the number of painful body sites. Nonetheless, patients with NC pain were more disabled (with a higher Expanded Disability Status Scale and pain interference index) than patients with migraine. Migraine, but not NC pain, was associated with age, disease duration, relapsing-remitting course, and interferon-beta treatment. This suggests that NC pain and migraine are mediated by different mechanisms. Therefore, pain mechanisms that specifically operate in MS patients need to be characterized to design optimal treatments for these individuals.
Published: 2013
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23. Comparison of radiotherapy types in the treatment of sialorrhea in amyotrophic lateral sclerosis

Author: Pierre Clavelou, Pierre Verrelle, Natacha Bourry, Christian Dualé, Nathalie Guy, Radhouane Dallel, and Michel Lapeyre
Subjects: Male, medicine.medical_specialty, medicine.medical_treatment, Difficulty swallowing, Drooling, Salivary Glands, Outcome Assessment, Health Care, medicine, Humans, Amyotrophic lateral sclerosis, General Nursing, Aged, Sialorrhea, Salivary gland, Radiotherapy, business.industry, Amyotrophic Lateral Sclerosis, Dose-Response Relationship, Radiation, General Medicine, Middle Aged, medicine.disease, Surgery, Radiation therapy, Anesthesiology and Pain Medicine, medicine.anatomical_structure, Observational study, Female, Radiology, France, medicine.symptom, business, After treatment
Abstract: Many patients with amyotrophic lateral sclerosis (ALS) develop progressive difficulty swallowing secretions, leading to drooling. Although external beam radiation is considered to be an effective and well-tolerated treatment, the optimum schedule in terms of dose, target, radiation type, and number of fractions is unknown. The aim of this observational study was to define the most effective schedule for salivary gland irradiation and to compare electron and photon radiotherapy.Sixteen patients with ALS (12 females and 4 males) with drooling, enrolled for external radiation of salivary glands between 2002 and 2007, were included. Patients received different treatment protocols according to the decision of their radiotherapist. Efficacy and safety were assessed at 1 and 6 months after treatment by a neurologist and a radiotherapist using a 4-point Likert patient improvement scale, as follows: 0 (no change), 1 (slight improvement), 2 (good improvement), and 3 (very good improvement).Radiotherapy for drooling was shown to be safe and effective in ALS patients with duration of effect expected up to 6 months. Eighty percent of patients felt improved at 1 month and 43% at 6 months after external radiation. Patients with sustained improvement at 6 months were treated with electron therapy (8 MeV; p = 0.02).Electron-based radiotherapy, delivered as five 4Gy fractions to a total dose of 20 Gy, encompassing the whole of the submandibular gland and sparing the upper part of the parotid gland, can be proposed as a safe and effective schedule for the treatment of sialorrhea in patients with ALS.
Published: 2011

24. Safety of home parenteral nutrition in patients with amyotrophic lateral sclerosis: a French national survey

Author: Paul H. Gordon, Myriam Chalbi, Claude Desnuelle, François Salachas, Gaëlle Bruneteau, Annie Verschueren, Jean Pouget, Pierre-François Pradat, Marie-Hélène Soriani, Timothée Lenglet, Nadine Le Forestier, Vincent Meininger, Nathalie Guy, Maya Abdelnour-Mallet, and Pierre Clavelou
Subjects: Adult, Male, medicine.medical_specialty, Catheterization, Central Venous, medicine.medical_treatment, Kaplan-Meier Estimate, Risk Assessment, Port (medical), Medicine, Humans, Risk factor, Aged, Retrospective Studies, Aged, 80 and over, business.industry, Incidence (epidemiology), Amyotrophic Lateral Sclerosis, General Medicine, Middle Aged, Confidence interval, Surgery, Catheter, Parenteral nutrition, Neurology, Relative risk, Female, Neurology (clinical), France, Safety, business, Parenteral Nutrition, Home, Central venous catheter
Abstract: We carried out a retrospective multicentre study to assess the safety of home parenteral nutrition (HPN) in patients with ALS. We reviewed the case records of patients from French ALS centres treated with HPN by central venous catheter (CVC) using an implantable port between January 2005 and October 2009. Seventy-three patients received HPN for a total of 11,908 catheter days. Twenty-seven patients experienced a total of 37 CVC related complications resulting in an incidence rate of 3.11 CVC complications/1000 catheter days, including 1.93 septic complications and 1.09 mechanical complications/1000 catheter days. Metabolic complications were frequent but without serious consequences on mortality. The use of the catheter for intravenous therapies in addition to HPN was identified as a septicaemia's risk factor (relative risk (RR) = 2.54, confidence interval (CI) 1.56-4.14, p = 0.04). In conclusion, HPN is an alternative procedure to PEG in advanced ALS patients. The incidence of complications appears to be comparable to data from the literature on HPN in other diseases. A prospective study comparing HPN and radiologic inserted gastrostomy (RIG) would allow comparison of the relative risk-benefit and survival of these procedures. The relation of CVC and RIG placement timing and the complications' occurrence should also be investigated.
Published: 2010

25. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

Author: Véronique Danel-Brunaud, Nadine Le Forestier, Nadia Vandenberghe, Stéphanie Millecamps, Agnès Camuzat, Gaëlle Bruneteau, Didier Hannequin, Isabelle Le Ber, Philippe Couratier, François Salachas, Alexis Brice, Paul H. Gordon, Vincent Meininger, Guy A. Rouleau, Bernard Bricka, Christel Thauvin-Robinet, Nathalie Guy, William Camu, Philippe Corcia, Eric LeGuern, Danielle Seilhean, Lucette Lacomblez, Odile Russaouen, Pierre-François Pradat, Cécile Cazeneuve, Lena Guillot-Noel, 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), Fédération des Maladies du Système Nerveux, 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 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 Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Service de neurologie et pathologie du mouvement, Hôpital Roger Salengro [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de compétence de la Sclérose Latérale Amyotrophique [CHU Clermont-Ferrand] (SLA), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Neuroépidémiologie Tropicale et Comparée (NETEC), Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Université de Limoges (UNILIM), Centre référent Sclérose Latérale Amyotrophique et autres maladies du motoneurone [CHU Limoges] (SLA CHU Limoges), CHU Limoges, Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Neuropathologie Raymond Escourolle, Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours] (SLA CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1), Center of Excellence in Neuromics, Antenne ORL, Hôpital Henri Mondor-Hôpital Albert Chenevier-Groupe Hospitalier Universitaire Sud, Centre SLA, Hospices Civils de Lyon (HCL)-Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hôpital Roger Salengro-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Neuro-Dol (Neuro-Dol), Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire d'Imagerie Fonctionnelle (LIF), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-IFR49-Institut National de la Santé et de la Recherche Médicale (INSERM), Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Center of Excellence in Neuromics, University of Montreal, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Limoges (UNILIM)-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Hôpital Roger Salengro, Service d'anatomie pathologique neurologique [CHU Pitié-Salpêtrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Grelier, Elisabeth, Laboratoire de Neuropathologie Raymond Escourolle [CHU Pitié-Salpétriêre], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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 Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Hôpital Roger Salengro [Lille]
Subjects: Male, MESH: Vesicular Transport Proteins, MESH: Ribonuclease, Pancreatic, Vesicular Transport Proteins, medicine.disease_cause, 0302 clinical medicine, MESH: Aged, 80 and over, Genotype, Missense mutation, Molecular genetics, Age of Onset, Amyotrophic lateral sclerosis, Genetics (clinical), MESH: Amyotrophic Lateral Sclerosis, MESH: Superoxide Dismutase, MESH: Genetic Association Studies, Aged, 80 and over, Genetics, MESH: Aged, 0303 health sciences, Mutation, MESH: Middle Aged, MESH: RNA-Binding Protein FUS, Middle Aged, VAPB, Neuromuscular disease, 3. Good health, DNA-Binding Proteins, MESH: Longevity, Female, Adult, medicine.medical_specialty, MESH: Mutation, MESH: Age of Onset, Longevity, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, TARDBP, 03 medical and health sciences, Age Distribution, Motor neurone disease, medicine, Humans, Family, Clinical genetics, MESH: Age Distribution, MESH: Family, Genetic Association Studies, Aged, 030304 developmental biology, MESH: Humans, Superoxide Dismutase, [SCCO.NEUR]Cognitive science/Neuroscience, Amyotrophic Lateral Sclerosis, [SCCO.NEUR] Cognitive science/Neuroscience, MESH: Adult, Ribonuclease, Pancreatic, medicine.disease, MESH: Male, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Clinical genetics, Molecular genetics, Motor neurone disease, Neuromuscular disease, RNA-Binding Protein FUS, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Age of onset, MESH: Female, 030217 neurology & neurosurgery, MESH: DNA-Binding Proteins
Abstract: International audience; BACKGROUND: Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified in amyotrophic lateral sclerosis (ALS). METHODS: The relative contributions of the different mutations to ALS were estimated by systematically screening a cohort of 162 families enrolled in France and 500 controls (1000 chromosomes) using molecular analysis techniques and performing phenotype-genotype correlations. RESULTS: 31 pathogenic missense mutations were found in 36 patients (20 SOD1, 1 ANG, 1 VAPB, 7 TARDBP and 7 FUS). Surprisingly two FUS mutation carriers also harboured ANG variants. One family of Japanese origin with the P56S VAPB mutation was identified. Seven novel mutations (three in SOD1, two in TARDBP, two in FUS) were found. None of them was detected in controls. Segregation of detected mutations with the disease was confirmed in 11 families including five pedigrees carrying the novel mutations. Clinical comparison of SOD1, TARDBP, FUS and other familial ALS patients (with no mutation in the screened genes) revealed differences in site of onset (predominantly lower limbs for SOD1 and upper limbs for TARDBP mutations), age of onset (younger with FUS mutations), and in lifespan (shorter for FUS carriers). One third of SOD1 patients survived more than 7 years: these patients had earlier disease onset than those presenting with a more typical course. Differences were also observed among FUS mutations, with the R521H FUS mutation being associated with longer disease duration. CONCLUSIONS: This study identifies new genetic associations with ALS and provides phenotype-genotype correlations with both previously reported and novel mutations.
Published: 2010
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26. Causes of death amongst French patients with amyotrophic lateral sclerosis: a prospective study

Author: G. Le Masson, G. Nicolas, Benoît Funalot, C. Maugras, Marie-Céline Fleury, J. Gil, Nadia Vandenberghe, Jean-Philippe Camdessanché, Véronique Danel-Brunaud, Nathalie Guy, Philippe Couratier, Claude Desnuelle, L. Carluer, Gérard Besson, William Camu, S. Pittion, Annie Verschueren, Pascal Cintas, and Philippe Corcia
Subjects: Male, medicine.medical_specialty, Pediatrics, Heart Diseases, Comorbidity, Sudden death, Asphyxia, Epidemiology, Medicine, Humans, Prospective Studies, Amyotrophic lateral sclerosis, Prospective cohort study, Cause of death, Aged, business.industry, Amyotrophic Lateral Sclerosis, Pneumonia, Middle Aged, medicine.disease, Respiratory Paralysis, Surgery, Pulmonary embolism, Hospice Care, Neurology, Respiratory failure, Quality of Life, Female, Neurology (clinical), France, medicine.symptom, business, Pulmonary Embolism, Respiratory Insufficiency
Abstract: Background and purpose: To prospectively investigate causes of death and the circumstances surrounding death in 302 patients with amyotrophic lateral sclerosis (ALS). The functional status of patients immediately before death was also determined. Methods: Information was obtained from neurologists at ALS centres, patients’ files, and, when deaths occurred outside a medical facility, attending physicians. Results: Most patients (63%) died in a medical facility. The most frequently reported cause of death was respiratory failure (77%), including terminal respiratory insufficiency (58%), pneumonia (14%), asphyxia due to a foreign body (3%) and pulmonary embolism (2%). Ten per cent of patients died from other causes: post-surgical or traumatic conditions (5%), cardiac causes (3.4%), suicide (1.3%) and sudden death of unknown origin (0.7%). The cause of death could not be determined in 13% of cases (6% inside a medical facility and 25% outside). At the time of death, only 55% of patients were receiving riluzole, 33% were undergoing non-invasive ventilation, 3% had a tracheotomy and 37% a gastrostomy. Conclusion: The information provided by this study helps to improve our understanding of the natural history of the disease and may help optimize the quality of care we can offer patients at the end of life.
Published: 2008

27. Both oral and caudal parts of the spinal trigeminal nucleus project to the somatosensory thalamus in the rat

Author: Nathalie, Guy, Maryse, Chalus, Radhouane, Dallel, and Daniel L, Voisin
Subjects: Male, Rats, Sprague-Dawley, Trigeminal Caudal Nucleus, Thalamus, Evoked Potentials, Somatosensory, Neural Pathways, Animals, Trigeminal Nucleus, Spinal, Rats
Abstract: Recent evidence has been accumulated that not only spinal trigeminal nucleus caudalis (Sp5C) neurons but also spinal trigeminal nucleus oralis (Sp5O) neurons respond to noxious stimuli. It is unknown, however, whether Sp5O neurons project to supratrigeminal structures implicated in the sensory processing of orofacial nociceptive information. This study used retrograde tracing with Fluorogold in rats to investigate and compare the projections from the Sp5O and Sp5C to two major thalamic nuclei that relay ascending somatosensory information to the primary somatic sensory cortex: the ventroposteromedial thalamic nucleus (VPM) and the posterior thalamic nuclear group (Po). Results not only confirmed the existence of contralateral projections from the Sp5C to the VPM and Po, with retrogradely labelled neurons displaying a specific distribution in laminae I, III and V, they also showed consistent and similar numbers of retrogradely labelled cell bodies in the contralateral Sp5O. In addition, a topographic distribution of VPM projections from Sp5C and Sp5O was found: neurons in the dorsomedial parts of Sp5O and Sp5C projected to the medial VPM, neurons in the ventrolateral Sp5O and Sp5C projected to the lateral VPM, and neurons in intermediate parts of Sp5O and Sp5C projected to the intermediate VPM. All together, these data suggest that not only the Sp5C, but also the Sp5O relay somatosensory orofacial information from the brainstem to the thalamus. Furthermore, trigemino-VPM pathways conserve the somatotopic distribution of primary afferents found in each subnucleus. These results thus improve our understanding of trigeminal somatosensory processing and help to direct future electrophysiological investigations.
Published: 2005

28. Effets de la gastrostomie sur la survie et la qualité de vie des patients atteints de sclérose latérale amyotrophique (SLA)

Author: L. Ouchachne, C. Bouteloup, Nathalie Guy, Gérard Besson, Jean Claude Desport, Philippe Couratier, and Pierre Clavelou
Subjects: Neurology, business.industry, Medicine, Neurology (clinical), business
Published: 2009
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29. Observatoire des migraines et céphalées de la SFEMC

Author: Evelyne Guegan-Massardier, H. Massiou, A. Autret, G. Baudesson, M.-G. Bousser, A Pradalier, Christelle Créac’h, Christian Lucas, M. Navez, Nathalie Guy, G. Giraud, Nelly Fabre, Françoise Radat, Michel Lantéri-Minet, Anne Donnet, Vincent Dousset, G. Mick, D. Valade, and Gilles Géraud
Subjects: Neurology, Neurology (clinical)
Published: 2005
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30. Mechanisms of individual differences in heterotopic noxious analgesia (DNIC), an fMRI study

Author: C J C Phillips, Steven Laureys, Quentin Noirhomme, Jean Schoenen, Radhouane Dallel, Volodymyr B. Bogdanov, Alessandro Viganò, and Nathalie Guy
Subjects: medicine.medical_specialty, Cold stimulation, Pathology, Neurology, business.industry, musculoskeletal, neural, and ocular physiology, Diffuse noxious inhibitory control, Pain medicine, Clinical Neurology, food and beverages, General Medicine, nervous system diseases, Pain responses, Anesthesiology and Pain Medicine, nervous system, Anesthesia, Poster Presentation, medicine, Neurology (clinical), business, psychological phenomena and processes
Abstract: Pain responses can be suppressed by heterotopic continuous noxious conditioning, e.g. continuous noxious cold stimulation.
Published: 2013

31. [Symptomatic treatments in amyotrophic lateral sclerosis]

Author: Clavelou P and nathalie guy
Subjects: Muscle Spasticity, Amyotrophic Lateral Sclerosis, Humans, Sialorrhea
Abstract: ALS is a progressive, fatal, degenerative motor neuron disease of unknown cause. Although advances in understanding pathophysiology of ALS have stimulated the development of new therapies, most of them remain few efficient or ineffective and the main management of ALS patient, to improve quality of life by alleviating symptoms, is symptomatic treatment. This article discusses the approaches now in use to manage some of the most common symptoms of ALS including the following: spasticity, cramps, pain, laryngospasm, pseudobulbar syndrome, salivation and drooling, sleep disorders and fatigue, constipation and trophic troubles.

32. FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis

Author: Broustal O, Camuzat A, Guillot-Noël L, nathalie guy, Millecamps S, Deffond D, Lacomblez L, Golfier V, Hannequin D, Salachas F, Camu W, Didic M, Dubois B, and Ftd Ftd-Mnd, French Clinical And Genetic Research Network On

33. Intérêt diagnostique du Test Combiné du Quadriceps dans la Sclérose Latérale Amyotrophique : étude de cohorte

Author: Desmaison, Annaïck, Faculté de Médecine - Clermont-Auvergne (FM - UCA), Université Clermont Auvergne (UCA), and Nathalie Guy
Subjects: Gold coast criteria, Motoneurone central, Facteur pronostique, Potentiels Évoqués Moteurs, Amyotrophic lateral sclerosis, Awaji criteria, Électroneuromyogramme, Upper motor neuron, T-MEP-LL, Electrophysiological diagnosis, Triple Simulation Transcrânienne, Motor evoked potential, Sclérose Latérale Amyotrophique, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: ObjectiveTo evaluate whether Combined Patellar Tendon Reflex-Motor Evoked Potentials to Lower Limb (T-MEP-LL) is relevant to assess corticospinal function in amyotrophic lateral sclerosis (ALS), in a monocentric retrospective study.MethodsT-MEP-LL was performed on 100 patients with motor neuron disease (MND) and 35 patients with other neurological pathologies, during routine diagnosis explorations. Clinical evaluation of the patients included neurological examination, the revised ALS Functional Rating Scale (ALSFRS-R) and Medical Research Council (MRC) score. Awaji and Gold Coast criteria were determined for each patient. Survival was calculated if death occurred.ResultsT-MEP-LL shows a sensitivity of 66% and a specificity of 68.6% to detect MND. T-MEP-LL was abnormal in 66% of the MND patients and 31.43% of patients with other neurological pathologies (p
Published: 2021

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33 results on '"Nathalie Guy"'

1. Combined tendon reflex and motor evoked potential recordings in amyotrophic lateral sclerosis

2. Hemiplegic Migraine Associated With PRRT2 Variations

3. Assessing the upper motor neuron in amyotrophic lateral sclerosis using the triple stimulation technique: A multicenter prospective study

4. Hemiplegic Migraine Associated With

5. Effect of familial clustering in the genetic screening of 235 French ALS families

6. Medication overuse reinstates conditioned pain modulation in women with migraine

7. Forme juvénile de SLA : l’idée doit FUSer !

8. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

9. Maladie de Creutzfeld-Jakob unilatérale : à propos d’un cas probable sur les critères électrocliniques, IRM et biologiques

10. Early diaphragm pacing to delay non-invasive ventilation in patients with amyotrophic lateral sclerosis (RespiStimALS): A multicenter, triple-blind, randomized controlled trial

11. Early diaphragm pacing in patients with amyotrophic lateral sclerosis (RespiStimALS): a randomised controlled triple-blind trial

12. La recherche sur la SLA en 2009 : compte rendu du groupe bibliographique de la coordination des centres SLA

13. Are there differences between cephalic and extracephalic cutaneous allodynia in migraine patients?

14. One or Several Types of Triptan Overuse Headaches?

15. Les méfaits d’Internet dans les traitements de la sclérose latérale amyotrophique

16. Behavioral Dependence in Patients With Medication Overuse Headache: A Cross-Sectional Study in Consulting Patients Using the DSM-IV Criteria

17. Evaluation of the application of the European guidelines for the diagnosis and clinical care of amyotrophic lateral sclerosis (ALS) patients in six French ALS centres

18. Genetic influence on the clinical characteristics and outcome of febrile seizures—a retrospective study

19. Both oral and caudal parts of the spinal trigeminal nucleus project to the somatosensory thalamus in the rat

20. Cerebral responses and role of the prefrontal cortex in conditioned pain modulation: an fMRI study in healthy subjects

21. Migraine et allodynies sensorielles: aspects cliniques et neurophysiologiques

22. Migraine headaches and pain with neuropathic characteristics: comorbid conditions in patients with multiple sclerosis

23. Comparison of radiotherapy types in the treatment of sialorrhea in amyotrophic lateral sclerosis

24. Safety of home parenteral nutrition in patients with amyotrophic lateral sclerosis: a French national survey

25. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

26. Causes of death amongst French patients with amyotrophic lateral sclerosis: a prospective study

27. Both oral and caudal parts of the spinal trigeminal nucleus project to the somatosensory thalamus in the rat

28. Effets de la gastrostomie sur la survie et la qualité de vie des patients atteints de sclérose latérale amyotrophique (SLA)

29. Observatoire des migraines et céphalées de la SFEMC

30. Mechanisms of individual differences in heterotopic noxious analgesia (DNIC), an fMRI study

31. [Symptomatic treatments in amyotrophic lateral sclerosis]

32. FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis

33. Intérêt diagnostique du Test Combiné du Quadriceps dans la Sclérose Latérale Amyotrophique : étude de cohorte

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33 results on '"Nathalie Guy"'

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