Author: "W. Camu" - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"W. Camu"' showing total 239 results

Start Over Author "W. Camu"

239 results on '"W. Camu"'

1. Therapeutic tools for familial ALS

Author: W, Camu, E, De La Cruz, and F, Esselin
Subjects: Neurology, Neurology (clinical)
Abstract: Familial ALS (FALS) accounts for 10 to 15% of ALS cases. In more than 70% of FALS patients, a causal gene is identified and animal models have been developed for a subset of them, mainly for the most frequently mutated genes. Therapeutic tools to treat those patients are dominated by gene-specific therapy and the most advanced approaches target the SOD1 gene mutations. Either by direct delivery of antisense oligonucleotides (ASO) or using viral vectors such as adenoviruses (AAV) to deliver ASOs, gene specific therapies have shown promising results in animal models. The recent use of subpial injections of AAV9+anti SOD1 ASO now shows that the disease is completely prevented or stopped in the animal, depending on the moment of injection, e.g., before or after disease onset. However, the use of viral vectors in humans seems to be limited at least by their immunogenicity. Antibody-based therapies are also efficient to treat animal models, but to a lesser extent. Most of the experiments targeted the SOD1 protein in its misfolded conformation. This approach seems better tolerated than the AAV one, an important limit being the choice of the epitope. Unexpectedly, some advances in treating the C9ORF72 animal model have been obtained using a modulation of microbiota, and this strategy has the great advantage to have an easy route of administration and a good safety profile. The landscape of experimental FALS treatment is rapidly evolving and results are promising. This is an important unmet need for ALS patients and several human phase I, II and III trials are ongoing.
Published: 2023
Full Text: View/download PDF

2. Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy

Author: Claire Guissart, M. Planes, Michel Koenig, P. Damier, Steeve Genestet, W. Camu, Lise Larrieu, Cecilia Marelli, Stéphanie Badiou, Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service de neurologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Hôpital Guillaume-et-René-Laennec [Saint-Herblain], Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hôpital Morvan - CHRU de Brest (CHU - BREST ), and MORNET, Dominique
Subjects: medicine.medical_specialty, Neurology, Metabolic diseases (inherited), [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Dermatology, Disease, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Variable Expression, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Pregnancy, Internal medicine, Genetics, medicine, Citrulline, Spastic, Humans, 030212 general & internal medicine, Child, Arthrogryposis, Paraplegia, Spastic Paraplegia, Hereditary, business.industry, Spastic paraplegia, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, General Medicine, Aldehyde Dehydrogenase, medicine.disease, Pedigree, 3. Good health, Psychiatry and Mental health, Endocrinology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, chemistry, Biomarker (medicine), Female, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract: International audience; INTRODUCTION: The ALDH18A1 gene, encoding delta-1-pyrroline-5-carboxylate synthase (P5CS), is responsible for an autosomal recessive disease with severe developmental delay; more recently, ALDH18A1 was found to be responsible for SPG9, an autosomal dominant (AD) spastic paraplegia.CASE REPORT: We report a three-generation family with AD SPG9, initially suspected because of low citrulline on fasting plasma amino acid chromatography (AAC). Interestingly, in two patients, the spastic paraplegia appeared during pregnancy. One subject presented a severe childhood-onset form while another subject had a mild late-onset disease.CONCLUSION: The description of this family is of particular interest: it highlights the possibility of transient or permanent aggravation of spastic paraplegia due to SPG9 during pregnancy, suggesting a direct link between neurological symptoms and amino acid defect in a period of higher requirements and the potential benefit of amino acid supplementation; it underscores the value of plasma citrulline on fasting plasma AAC as a biomarker for this disease; it shows the variable expression of the disease.
Published: 2020
Full Text: View/download PDF

3. Treatment of post-poliomyelitis syndrome by intravenous immunoglobulin: A retrospective study of clinical criteria

Author: V. Moiziard, C. Palayer, C. Cortez, W. Camu, Isabelle Laffont, C. Jourdan, A. Pellegrin, and R Morales
Subjects: Immunoglobulin A, medicine.medical_specialty, biology, Walking test, business.industry, Visual analogue scale, Rehabilitation, Retrospective cohort study, medicine.disease, Poliomyelitis, Preferred walking speed, Intravenous Immunoglobulin Therapy, Internal medicine, medicine, biology.protein, Orthopedics and Sports Medicine, business, Therapeutic strategy
Abstract: Introduction/Background We investigated the efficacy of intravenous immunoglobulin therapy in the treatment of post-poliomyelitis syndrome (PPS) of clinical criteria. Material and method We realised an unicentric retrospective descriptive study at the CHU of Montpellier, involving patients with PPS treated with intravenous immunoglobulin (IG), between 2009 and 2017. The doses administered were 0.4 mg/kg/day for 5 days, once a month for 3 consecutive months. Patients were evaluated on pre- and post-therapy on clinical and functional aspects using validated scales: pain Visual Analog Scale, 6 Minutes Walking Test, walking speed. Results Seventeen patients, 9 men and 8 women were included, some patients receiving multiple courses. All patients had lower limb involvement. The walking perimeter was improved in 67% of the patients studied (P = 0.320), the walking speed increased in 71% (P = 0.541) of the patients and the progression of the pain was favorable in 71% (P = 0.586) cases studied. One patient experienced a deterioration of functional abilities during walking after treatment. We will graphically represent the evolution of variables, before and after IG IV treatment. Conclusion Our analysis seems to show a favorable evolution of the PPS after treatment with IG on clinical data related to the pain and function of walking. This treatment could thus represent an effective therapeutic strategy in the management of PPS.
Published: 2018
Full Text: View/download PDF

4. Fasting plasma and CSF amino acid levels in amyotrophic lateral sclerosis: a subtype analysis

Author: W. Camu, M. Billiard, and Baldy-Moulinier M
Subjects: Male, medicine.medical_specialty, Glutamine, Serine, Plasma, chemistry.chemical_compound, Cerebrospinal fluid, Glutamates, Internal medicine, Blood plasma, medicine, Humans, Amino Acids, Hereditary Sensory and Autonomic Neuropathies, Amyotrophic lateral sclerosis, Alanine, Methionine, Amyotrophic Lateral Sclerosis, Parkinson Disease, Fasting, General Medicine, medicine.disease, Endocrinology, Neurology, chemistry, Biochemistry, Female, Neurology (clinical), Leucine
Abstract: Data from the literature about plasma and CSF amino acid (AA) levels in amyotrophic lateral sclerosis (ALS) remain controversial. To refine such analyses we used HPLC, and report a study of plasma and CSF AA concentrations in patients with ALS, the type of the disease (spinal and bulbar onset) being precisely determined. In ALS, there is a decrease in the plasma levels of the large neutral amino acids (LNAA) alanine, isoleucine, leucine, methionine and tyrosine which was particularly striking in the bulbar type (p < 0.05). Plasma glutamate levels do not differ between ALS and controls, but are significantly increased in ALS with spinal onset and decreased in the bulbar type (p < 0.05 vs controls, p < 0.001 bulbar vs spinal). In CSF, the analysis of the whole ALS group shows no difference from controls. However, there is an increase of CSF serine, glutamine and alanine in ALS with spinal onset (p < 0.05). Our results do not support an abnormal profile of excitatory AA concentrations in ALS. The heterogeneous changes we observed, mainly concerning LNAAs, may be explained by a blood-CSF barrier disturbance in the disease. As AA levels clearly differ between ALS types, with low concentrations in bulbar ALS, this dual profile probably explains some of the discrepancies between previous studies.
Published: 2009
Full Text: View/download PDF

5. [Living Lab MACVIA. Disability]

Author: I, Laffont, C, Jourdan, F, Coroian, H, Blain, V, Carre, E, Viollet, I, Tavares, C, Fattal, A, Gelis, F, Nouvel, K, Bakhti, V, Cros, K, Patte, L, Schifano, M, Porte, E, Galano, G, Dray, M, Fouletier, F, Rivier, R, Morales, P, Labauge, W, Camu, B, Combe, J, Morel, J, Froger, B, Coulet, J, Cottalorda, P, Kouyoumdjian, O, Jonquet, L, Landreau, H-Y, Bonnin, O, Hantkié, P, Nicolas, M, Enjalbert, C, Leblond, B, Soua, P, Coignard, D, Guiraud, C, Azevedo, D, Mottet, P, Fraisse, E, Pastor, J, Mercier, R, Bourret, J, Bousquet, J, Pélissier, B, Bardy, C, Herisson, and A, Dupeyron
Subjects: Adult, Aging, Social Work, Biomedical Research, Frail Elderly, Health Personnel, Health Promotion, Regional Medical Programs, Public-Private Sector Partnerships, Ambulatory Care, Humans, Disabled Persons, Aged, Patient Care Team, Delivery of Health Care, Integrated, Health Policy, Malnutrition, Social Support, Middle Aged, Self-Help Devices, Home Care Services, Europe, Chronic Disease, Accidental Falls, France, Independent Living
Published: 2015

6. Quelle est la place de l’enquête génétique ?

Author: W. Camu
Subjects: Neurology, Neurology (clinical)
Abstract: Resume L’enquete genetique dans le contexte diagnostique de la sclerose laterale amyotrophique (SLA), est un moment important pour au moins trois aspects : 1) le diagnostic differentiel de ce qui n’est pas une SLA, 2) le diagnostic differentiel avec les autres maladies du motoneurone d’origine hereditaire, 3) le diagnostic precis d’une forme familiale hereditaire liee a une mutation du gene SOD1. Dans chacun de ces cas, l’enquete pourra mener a une analyse genetique precise et eventuellement diagnostique. Le cas des mutations du gene SOD1 differe significativement des autres recherches genetiques dans le sens ou les mutations sont multiples et ou toutes n’ont pas ete demontrees causales. C’est une evaluation clinique, genetique, en fonction de la litterature et assez souvent d’apres l’analyse genetique de la famille qui seule pourra permettre de tirer des conclusions qui devront etre donnees au patient avec, toutefois, la prudence qui sied a un contexte medico-scientifique dont les connaissances sont en perpetuelle evolution.
Published: 2006
Full Text: View/download PDF

7. Prise en charge psychologique du patient et de son entourage y compris à long terme

Author: S. Roy-Bellina and W. Camu
Subjects: Neurology, Political science, Neurology (clinical), Humanities, Psychological treatment
Abstract: Resume Durant ces cinq dernieres annees, avec la creation des centres experts labellises, la prise en charge des patients SLA et de leur entourage s’est considerablement amelioree. Cet accompagnement multidisciplinaire a comme objectif, la mise en place d’un projet de soin commun, global et personnalise. Il est a l’interface du medical, du psychologique et du social, prenant en compte la famille comme un pont necessaire. C’est dans un tel contexte que s’est imposee la necessite d’elaborer des reponses concretes pour tenter d’aboutir a des recommandations consensuelles, a l’echelle de notre nation. Concernant plus specifiquement la question de « la prise en charge psychologique », nous nous proposons de definir le positionnement et le role du psychologue aupres des differentes populations approchees, et ses possibilites d’action, tout en abordant les exigences en terme de support psychologique pour promouvoir leur autonomie. Loin des resultats scientifiques, ces pistes de reflexions montrent a quel point l’interet d’une prise charge aussi specifique peut permettre le maintien de la vie psychique des patients et de leur entourage. Le psychologue a travers ses diverses interventions doit pouvoir repondre aux multiples demandes d’aides et aux questionnements individuels.
Published: 2006
Full Text: View/download PDF

8. Neuropathie axonale sévère et léflunomide

Author: A. Gabelle, D. Hillaire-Buys, W. Camu, E. Coudeyre, and J.C. Antoine
Subjects: Gynecology, Axonal neuropathy, medicine.medical_specialty, Neurology, Leflunomida, business.industry, Rheumatoid arthritis, medicine, Neurology (clinical), medicine.disease, business, Leflunomide, medicine.drug
Abstract: Resume Introduction Le leflunomide est une nouvelle therapeutique de la polyarthrite rhumatoide agissant par inhibition lymphocytaire. Ses effets secondaires sont le plus souvent consideres comme moderes et transitoires. Nous rapportons deux cas de neuropathie axonale imputables au leflunomide. Observation Deux femmes, âgees de 61 et 70 ans, ont presente une neuropathie axonale sensitivomotrice severe dans les 5 mois qui ont suivi le debut d’un traitement par leflunomide. Le bilan etiologique fut negatif et l’amelioration clinique fut rapide apres l’arret du traitement. Discussion L’analyse des donnees de la banque nationale francaise de pharmacovigilance a permis de recenser 12 cas jusqu’en septembre 2003, dont 10 patients âges de plus de 60 ans. La neuropathie etait diagnostiquee dans les 9 mois suivant l’instauration du traitement. Sept patients sur 12 ont recupere apres l’arret du traitement. Conclusion Le leflunomide est une cause de neuropathie axonale evolutive et invalidante dont la prevalence reste a determiner.
Published: 2005
Full Text: View/download PDF

9. Les amyotrophies spinales de l’adulte

Author: W. Camu
Subjects: Neurology, Neurology (clinical)
Abstract: Resume Les amyotrophies spinales de l’adulte sont un groupe tres heterogene de maladies. Le processus diagnostique necessite d’etre tres methodique pour ne pas passer a cote des grands diagnostics differentiels et pour ne pas meconnaitre une forme familiale. Le phenotype clinique est tres variable et, dans le cas de formes familiales de SLA avec mutations SOD1, peut prendre la forme d’une amyotrophie spinale. C’est donc a la suite d’un interrogatoire minutieux, d’un examen electroneuromyographique complet que l’orientation des explorations suivantes pourra etre prise : biopsie nerveuse ou musculaire, IRM, analyse genetique, en particulier.
Published: 2004
Full Text: View/download PDF

10. Introduction

Author: J. Bousquet, R. Bourret, T. Camuzat, P. Augé, P. Domy, J. Bringer, N. Best, O. Jonquet, J.-E. de la Coussaye, M. Noguès, J.-M. Robine, A. Avignon, H. Blain, B. Combe, G. Dray, V. Dufour, M. Fouletier, N. Giraudeau, D. Hève, C. Jeandel, I. Laffont, D. Larrey, D. Laune, C. Laurent, P. Mares, C. Marion, E. Pastor, J.-Y. Pélissier, F. Radier-Pontal, J. Reynes, E. Royère, M. Ychou, A. Bedbrook, S. Granier, F. Abecassis, S. Albert, P.-A. Adnet, B. Alomène, M. Amouyal, S. Arnavielhe, T. Asteriou, V. Attalin, P. Aubas, C. Azevedo, M. Badin, null Bakhti, G. Baptista, B. Bardy, M.-P. Battesti, O. Bénézet, P.-L. Bernard, C. Berr, J. Berthe, X. Bobia, J. Bockaert, C. Boegner, S. Boichot, H.-Y. Bonnin, P. Boulet, S. Bouly, C. Boubakri, A. Bourdin, J.-L. Bourrain, G. Bourrel, V. Bouix, C. Breuker, V. Bruguière, J. Burille, S. Cade, D. Caimmi, M.-V. Calmels, W. Camu, G. Canovas, V. Carre, G. Cavalli, G. Cayla, R. Chiron, P.-G. Claret, P. Coignard, F. Coroian, D.-J. Costa, P. Costa, null Cottalorda, B. Coulet, A.-L. Coupet, M.-C. Courrouy-Michel, P. Courtet, J.-P. Cristol, V. Cros, F. Cuisinier, C. Daien, M. Danko, P. Dauenhauer, M. Dauzat, M. David, J.-M. Davy, D. Delignières, P. Demoly, J. Desplan, H. Dhivert-Donnadieu, P. Dujols, A. Dupeyron, G. Dupeyron, O. Engberink, M. Enjalbert, C. Fattal, J. Fernandes, P. Fesler, P. Fraisse, J. Froger, P. Gabrion, E. Galano, M. Gellerat-Rogier, A. Gellis, A.-Y. Goucham, F. Gouzi, F. Gressard, J.-C. Gris, B. Guillot, D. Guiraud, V. Handweiler, H. Hantkié, M. Hayot, C. Hérisson, C. Heroum, D. Hoa, S. Jacquemin, S. Jaber, D. Jakovenko, C. Jorgensen, L. Journot, M. Kaczorek, P. Kouyoudjian, P. Labauge, L. Landreau, M. Lapierre, C. Leblond, M.-S. Léglise, J.-M. Lemaitre, V. Le Moing, A. Le Quellec, F. Leclercq, S. Lehmann, B. Lognos, J.-M. Lussert, A. Makinson, K. Mandrick, V. Marmelat, P. Martin-Gousset, A. Matheron, G. Mathieu, M. Meissonnier, G. Mercier, P. Messner, C. Meunier, M. Mondain, R. Morales, J. Morel, D. Morquin, D. Mottet, P. Nérin, P. Nicolas, G. Ninot, F. Nouvel, J.-P. Ortiz, D. Paccard, G. Pandraud, M.-P. Pasdelou, J.-L. Pasquié, K. Patte, S. Perrey, Y.-M. Pers, M.-C. Picot, J.-P. Pin, N. Pinto, E. Porte, F. Portejoie, J.-L. Pujol, X. Quantin, I. Quéré, N. Raffort, S. Ramdani, J. Ribstein, I. Rédini-Martinez, S. Richard, K. Ritchie, J.-P. Riso, F. Rivier, C. Rolland, F. Roubille, D. Sablot, J.-L. Savy, L. Schifano, P. Senesse, R. Sicard, B. Soua, Y. Stephan, D. Strubel, A. Sultan, null Taddei-Ologeanu, G. Tallon, M. Tanfin, H. Tassery, I. Tavares, K. Torre, J. Touchon, V. Tribout, A. Uziel, P. Van de Perre, X. Vasquez, J.-M. Verdier, C. Vergne-Richard, G. Vergotte, L. Vian, C. Viarouge-Reunier, F. Vialla, F. Viart, M. Villain, M. Villiet, E. Viollet, A. Wojtusciszyn, M. Aoustin, C. Bourquin, J. Mercier, Département pneumologie et addictologie [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Région Languedoc-Roussillon-Midi-Pyrénées, Centre de pharmacologie et innovation dans le diabète (CPID), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Centre National de la Recherche Scientifique (CNRS), CERMES3 - Centre de recherche Médecine, sciences, santé, santé mentale, société (CERMES3 - UMR 8211 / U988 / UM 7), École des hautes études en sciences sociales (EHESS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Department of Geriatrics - Efficiency and Deficiency Laboratory, Hôpital Lapeyronie [Montpellier] (CHU), Laboratoire de Génie Informatique et Ingénierie de Production (LGI2P), IMT - MINES ALES (IMT - MINES ALES), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), Euromov (EuroMov), Université de Montpellier (UM), Hôpital Saint Eloi (CHRU Montpellier), Institut de Recherche en Infectiologie de Montpellier (IRIM), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Centre d'Estudis del Risc Tecnològic, Universitat Politècnica de Catalunya [Barcelona] (UPC), UNICANCER - Institut régional du Cancer Montpellier Val d'Aurelle (ICM), CRLCC Val d'Aurelle - Paul Lamarque, Laboratorium für Physikalische Chemie (ETH-LPC), Eidgenössische Technische Hochschule - Swiss Federal Institute of Technology [Zürich] (ETH Zürich), Kyomed, Montpellier Research in Management (MRM), Université Paul-Valéry - Montpellier 3 (UPVM)-Université de Perpignan Via Domitia (UPVD)-Groupe Sup de Co Montpellier (GSCM) - Montpellier Business School-Université de Montpellier (UM), ONERA - The French Aerospace Lab [Lille], ONERA, Institut de Génomique Fonctionnelle (IGF), Société Publique Locale d'Exploitation de Balaruc-les-Bains, Balaruc-Les-Bains, Chimie, biologie et radicaux libres - UMR 6517 (CBRL), Université de la Méditerranée - Aix-Marseille 2-Université Paul Cézanne - Aix-Marseille 3-Université de Provence - Aix-Marseille 1-Centre National de la Recherche Scientifique (CNRS), Département de dermatologie [CHU de Montpellier], Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Recherches Translationnelles sur le VIH et les maladies infectieuses endémiques et émergentes (TransVIHMI), Institut de Recherche pour le Développement (IRD)-Université de Yaoundé I-Université Cheikh Anta Diop [Dakar, Sénégal] (UCAD)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Médecine interne, maladies multi-organiques de l'adulte [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Saint Eloi (CHRU Montpellier), Département Maladies Infectieuses et Tropicales, Hôpital Universitaire, Montpellier, France, Aix-Marseille Université - Faculté des Sciences du Sport (AMU FSS), Aix Marseille Université (AMU), Dynamique des capacités humaines et des conduites de santé (EPSYLON), Université Montpellier 1 (UM1)-Université Paul-Valéry - Montpellier 3 (UPVM)-Université de Montpellier (UM), Contre les MAladies Chroniques pour un VIeillissement Actif en Languedoc-Roussillon (MACVIA-LR), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de Nîmes (CHU Nîmes)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-European Innovation Partnership on Active and Healthy Ageing Reference Site (EIP on AHA), Commission Européenne-Commission Européenne-Organisation Mondiale de la Santé / World Health Organization Office (OMS / WHO), Département Médecine interne, Hôpital Lapeyronie, Agence Régionale de la Santé (ARS), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire de magnétisme et d'optique de Versailles (LMOV), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Centre National de la Recherche Scientifique (CNRS), GEOMAR LEGOS, Laboratoire d'études en Géophysique et océanographie spatiales (LEGOS), Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire Midi-Pyrénées (OMP), Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Université Fédérale Toulouse Midi-Pyrénées-Météo-France -Institut de Recherche pour le Développement (IRD)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Météo-France -Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Université Fédérale Toulouse Midi-Pyrénées-Météo-France -Institut de Recherche pour le Développement (IRD)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Météo-France -Centre National de la Recherche Scientifique (CNRS), CHU Saint-Eloi, Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Recherches Translationnelles sur le VIH et les maladies infectieuses endémiques er émergentes (TransVIHMI), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-CHU Saint-Eloi, Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Université Montpellier 1 (UM1)-Groupe Sup de Co Montpellier (GSCM) - Montpellier Business School-Université Paul-Valéry - Montpellier 3 (UPVM)-Université de Montpellier (UM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Université de Perpignan Via Domitia (UPVD), Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université Cheikh Anta Diop [Dakar, Sénégal] (UCAD)-Institut de Recherche pour le Développement (IRD)-Université de Yaoundé I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Université Montpellier 1 (UM1), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Centre Hospitalier Universitaire de Nîmes (CHU Nîmes)-European Innovation Partnership on Active and Healthy Ageing Reference Site (EIP on AHA), Commission Européenne-Commission Européenne-Organisation Mondiale de la Santé / World Health Organization Office (OMS / WHO)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), and Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: 03 medical and health sciences, 0302 clinical medicine, 030228 respiratory system, 030212 general & internal medicine, General Medicine, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience
Published: 2015
Full Text: View/download PDF

11. Identification of Six Novel SOD1 Gene Mutations in Familial Amyotrophic Lateral Sclerosis

Author: Jawad Khoris, Guy A. Rouleau, Y. Boukaftane, F. Salachas, A. Malafosse, Vincent Meininger, W. Camu, and Bruno Moulard
Subjects: Molecular Sequence Data, SOD1, Gene mutation, Biology, medicine.disease_cause, Polymerase Chain Reaction, Exon, Species Specificity, medicine, Humans, Amino Acid Sequence, Genetic Testing, Amyotrophic lateral sclerosis, Gene, DNA Primers, Genes, Dominant, Genetics, Mutation, Superoxide Dismutase, Amyotrophic Lateral Sclerosis, Autosomal dominant trait, Single-strand conformation polymorphism, DNA, General Medicine, medicine.disease, Neurology, Immunology, Neurology (clinical)
Abstract: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the premature death of motor neurons. In approximately 10% of the cases the disease is inherited as autosomal dominant trait (FALS). It has been found that mutations in the Cu/Zn superoxide dismutase gene (SODl) are responsible for approximately 15% of FALS kindreds. We screened affected individuals from 70 unrelated FALS kindreds and identified 10 mutations, 6 of which are novel. Surprisingly, we have found a mutation in exon 3, which includes most of the active site loop and Zn2+binding sites, a region where no previous SOD1 mutations have been found. Our data increase the number of different SODl mutations causing FALS to 55, a significant fraction of the 154 amino acids of this relatively small protein.
Published: 1998
Full Text: View/download PDF

12. [Awaji criteria: new diagnostic criteria for amyotrophic lateral sclerosis]

Author: A-M, Guennoc, W, Camu, and P, Corcia
Subjects: Adult, Electromyography, Predictive Value of Tests, Amyotrophic Lateral Sclerosis, Diagnostic Techniques, Neurological, Humans, Fasciculation
Abstract: Amyotrophic lateral sclerosis is the most common motor neuron disorder in adults. Although the diagnosis appears obvious in theory, clinical practice shows the contrary as diagnosis is delayed in many patients; the average time between symptom onset and diagnosis can reach 12 months. The delay can be explained by the variability of the clinical presentation and by the absence of diagnostic markers. In order to standardize diagnosis for enrollment in clinical research, diagnostic criteria for ALS were created and revisited during the last 20 years. In 2006, the Awaji criteria for the diagnosis of ALS were proposed, adding two major points to the diagnostic criteria: electromyography is considered equivalent to clinical examination for the identification of LMN signs and fasciculation potentials resume their prominent place in the diagnosis. Comparisons of the accuracy of the revisited El Escorial and Awaji criteria support improved diagnostic sensitivity without any effect on specificity with the new classification. The only weakness of the new classification involves patients with UMN signs in one region and LMN in two regions; these patients were previously classified as laboratory-supported probable ALS and currently as possible ALS, a lower level of diagnostic certainty. In all other instances the accuracy appears to be improved by the Awaji criteria. Nevertheless, there is a body of evidence suggesting the need for a revision of these new criteria, giving more weight to clinical and complementary findings of UMN involvement. The need to diagnose and treat ALS quickly could be facilitated by the inclusion of complementary investigations that detect UMN signs.
Published: 2012

13. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain

Author: H. Hattig, C. Delli Pizzi, M. C. Addonizio, Michelle Davis, A. R. Giovagnoli, L. Florensa, M. Roth, J. de Kruijk, Francisco Lacruz, Ph. Dewailly, A. Toygar, C. Avendano, P.P. De Deyn, J. F. Hurtevent, F. Lomeila, T. W. Wong, Gordon T. Plant, M. Bud, H. J. Willison, DH Miller, D. W. Langdon, R. Cioni, J. Servan, A. Kaygisiz, E. Racadot, D. B. Schens, E. Picciola, L. Falip, C. Bouchard, J. Jotova, A. Jorge-Santamaria, P. Misra, A. Dufour, C. P. Panagopoulos, A. Venneri, B. Sredni, B. Angelard, M. Janelidze, M. Carreno, J. Obenberger, J. Pouget, H. W. Moser, R. Kaufmann, J. A. Molina, D. Linden, A. Martin Urda, E. Uvestad, A. Krone, J. P. Cochin, J. Mallecourt, A. Cambon-Thomsen, K. Violleau, P. Osschmann, A. M. Durocher, E. Bussaglia, D. M. Danielle, H. Efendi, C. Van Broeckhoven, K. G. Jordan, W. Rautenberg, C. Iniguez, J. M. Delgado, Graham Watson, M. Lawden, Gareth J. Barker, K. Stiasny, James T. Becker, G. Campanella, E. Peghi, A. Poli, A. Haddad, T. Yamawaki, Giacomo P. Comi, S. Sotgiu, B. Ersmark, A. Pomes, M. Ziegler, P. Ferrante, P. Ruppi, H. KuÇukoglu, R. Bouton, U. K. Rinne, P. Vieregge, M. Dary, P. Giunti, Peter J. Goadsby, S. Jung, E. Secor, A. Steinberg, N. Vila, M. A. Hernandez, M. Cursi, A. Enqelhardt, A. Engelhardt, J. Veitch, F. Di Silverio, F. Arnaud, B. Neundörfer, R. Brucher, Dominique Caparros-Lefebvre, B. Meyer, Marianne Dieterich, M. H. Snidaro, R. Gomez, R. Cerbo, M. Ragno, J. M. Vance, S. Nemni, A. Caliskan, F. Barros, I. Velcheva, D. Ceballos-Baumann, V. Barak, A. Avila, N. Antonova, F. Resche, S. Pappata, L. Varela, S. R. Silveira Santos, A. Cammarota, L. Naccache, Y. Nara, E. Tournier-Lasserves, R. Mobner, T. Chase, A. Ensenyat, J. Ulrich, G. Giegerich, M. Rother, M. Revilla, N. Nitschke, K. Honczarenko, E. Basart Tarrats, J. Blin, B. Jacob, J. Santamaria, S. Knezevic, J. L. Castillo, M. Antem, J. Colomer, O. Busse, Didier Hannequin, S. Carrier, J. B. Ruidavets, C. Rozman, J. Bogoussslavsky, J. Pascual Calvet, E. Monros, J. M. Polo, M. Zucconl, Javier Muruzabal, R. R. Allen, R. Rivolta, K. Haugaard, A. Nespolo, K. Hoang-Xuang, G. Bussone, T. Avramidis, E. Corsini, Christiana Franke, T. Vinogradova, H. Boot, K. Vestergaard, G. H. Jansen, N. Argentino, M. Raltzig, W. Linssen, Mark B. Pepys, P. Roblot, L. Lauritzen, E. Fainardi, D. Morin, T. X. Arbizu Urdiain, J. Wollenhaupt, S. Bostantjopoulou, G. Pavesi, A. D. Forman, Giovanni Fabbrini, D. Jean, J. J. Archelos, M. I. Blanchs, M. Del Gobbo, Anna Carla Turconi, Ch. Derouesné, Elio Scarpini, A. Visbeck, P. Castejon, J. P. Renou, F. Mounier-Vehier, G. Potagas, Ch. Duyckaerts, A. Filla, R. Schneider, G. Ronen, K. Nagata, J. P. Vedel, A. Henneberg, G. van Melle, C. Baratti, H. Knott, M. C. Prevett, A. Bes, B. Metin, Jos V. Reempts, L. Martorell, Mefkure Eraksoy, H. O. Handwerker, D. S. Younger, O. Oktem, D. Frongillo, C. Soriano-Soriano, L. Niehaus, F. Zipp, A. Tartaro, S Newman, R. H. Browne, P. Davous, R. Sanchez, M. Muros, M. E. Kornhuber, A. Lavarone, M. Mohr, M. R. Garcia, S. Russell, H. Kellar-Wood, M. R. Tola, B. Ostermeyer, Ch. Tzekov, K. Sartor, E. B. Ringelstein, P. P. Gazzaniga, Paul Krack, H. Fidaner, H. Rico, T. Dbaiss, F. Alameda, E. Torchiana, L. Rumbach, I. Charques, J. M. Bogaard, C. D. Frith, L. J. Rappelle, R. Brenner, A. Joutel, K. Fuxe, G. HÄcker, M. J. Blaser, J. Valls-SolÇ, G. Ulm, M. Alberdi, A. Bock, F. W. Bertelsmann, U. Wieshmann, J. Visa, J. R. Lupski, D. D'Amico, L. M. P. Ramos, A. A. Vanderbark, R. Horn, M. Warmuth, Dietmar Kühne, Mark S. Palmer, C. Ehrenheim, E. Canga, S. Viola, O. Scarpino, P. Naldi, R. Almeida, A. A. Raymond, J. Gamez, Stephan Arnold, A. DiGiovanni, J. Dalmau, C. C. Chari, H. F. Beer, J. C. Koetsier, J. Iriarte, E. Yunis, J. Casadevall, E. Le Guern, E. Stenager, S. R. Benbadis, J. M. Warter, F. Burklin, I. Theodorou, L. Johannesen, G. A. Graveland, X. Leclerc, I. Vecchio, L. Ozelius, G. Nicoletti, R. K. Gherardi, E. Esperet, M. L. Delodovici, F. Cattin, F. Paiau, Giorgio Sacilotto, C. A. J. Broere, D. Chavdarov, J. P. Willmer, C. H. Hawkes, Th. Naegele, E. Ellie, E. Dartigues, M. J. Guardiola, S. Hesse, Z. Levic, Marco Rovaris, P. Saugeir-Veber, B. A. Yaqub, H. F. Durwen, R. Larumbe, J. Ballabrina, M. Sendtner, J. Röther, M. Horstink, C. Kluglein, M.P. Montesi, H. Apaydin, J. Montoya, E. Waubant, Ch. Verellen-Dunoulin, A. Nicolai, J. Lopez-Delval, R. Lemon, G. Cantinho, E. Granieri, A. Zeviani, Wolfgang H. Oertel, U. Ficola, V. Di Piero, V. Fragola, K. Sabev, M. V. Guitera, I. Turki, F. Bolgert, P. Ingrand, J. M. Gobernado, L. M. E. Grimaldi, S. Baybas, B. Eymard, Y. Rolland, Y. Robitaille, Ta. Pampols, P. J. Koehler, A. Carroacedo, J. Vilchez, S. Di Vittorio, I. R. Rise, T. Nagy, M. Kuffner, E. Palazzini, A. Ott, J. Pruim, T. X. Arbizu, E. Manetti, C. Cervera, S. Felber, G. Gursoy, J. Scholz, G. A. Buscaino, M. S. Chen, A. Pascual, J. Hazan, J. U. Gajda, J. G. Cea, G. Bottini, G. Damalik, F. Le Doze, G. Bonaldi, J. M. Hew, C. Messina, A. M. Kennedy, J. M. Carney, N. M. F. Murray, M. Parent, M. Koepp, V. Dimova, D. De Leo, K. Jellinger, G. Salemi, S. Mientus, M. L. Hansen, F. Mazzucchelli, J. Vieth, M. Mauri, E. Bartels, L. Johannsen, C. Humphreys, J. Emile, D. N. Landon, E. Kansu, R. Sanchez-Pernaute, Rsj Frackowiak, M. Gonzalez Torres, L. Oller, C. Machedo, J. Kother, M. Billiard, H. Durak, T. Schindler, A. Frank, A. Uncini, A. Sbriccoli, C. Farinas, D. W. Paty, N. Fast, A. T. Zangaladze, A. Kerkhofs, J. M. Pino Garcia, I. De la Fuente, B. Marini, L. Gomez, I. Rubio, Alessandra Bardoni, C. Brodie, P. Acin, U. Sliwka, S. A. Hawkins, S. Tardieu, F. Vitullo, J. M. Pereira Monteino, R. Gagliardi, T. Jezewski, A. Cano, T. Lempert, F. Abad Alegria, G. Rotondo, D. Ince, C. Martinez Parra, Y. Huang, H. Luders, Y. Steinvil, F. G. A. Van Der Meche, R. Bianchi, A. Sanchez, T. Sevilla, J. M. Ketelslegers, A. Domzal-Stryga, M. Pandolfo, M. O. Josse, K. W. Neff, I. Blanco, G. W. Bruyn, O. W. Witte, J. L. Thibault, G. Andersen, J. Pariset, A. Marcone, R. J. M. Lane, A. Hofman, M. Verin, T. Matilla, P. Bedoucha, J. Roche, M. Lai, M. Collard, A. Ugarte, F. Gallecho, D. Silbersweig, C. Kennard, J. P. Azulay, T. W. Ho, P. L. I. Dellemijn, R. Girardello, F. Baas, B. Voss, F. Rozenberg, E. M. Brocker, V. Stanev, A. A. J. Soeterboek, A. Marra, A. Rey, E. Ertem, M. Sawradewicz-Rybak, J. De Keyser, P. Cavallari, F. Proust, Y. Chevalier, H. C. Hansen, D. Leys, C. A. Davie, K. Hoang-Xuan, C. Bairati, H. van Crevel, Thomas T. Warner, B. Bompais, A. Dobbeleir, T Campbell, C. Macko, C. J. M. Klijn, M. Dussallant, T. P. Berlit, W. Rozenbaum, M. J. van den Bent, W. A. Rocca, M. Muller, H. Hundemer, U. Zifko, M. Campera, F. Drislane, D. Ranoux, T. M. Kloss, Anil Kumar, I. Ruolt, C. Bargnani, B. Marescau, N. A. Losseff, S. Notermans, B. Kint, E. T. Burke, C. Aykut, J. Matias Guiu, P. Maquet, T. Drogendijk, M. Leone, K. von Ammon, M. Pepeliarska, C. Prados, L. DiGiamberardino, T. Logtenberg, G. Lenoir, I. Castaldo, Damhaut, M. Radionova, G. Sirabian, R. Navon, Giovanni Antonini, K. Al Moutaery, E. Chamas, R. Schönhuber, M. Giannini, B. Debilly, I. Labatut, H. Henon, J. A. Egido, M. Baudrimont, J. N. Lorenzo, J. E. C. Bromberg, R. Antonacci, J. J. Vilchez, T. Moulin, B. Rautenstrauss, Giovanni Meola, J. Noth, S Mammi, P. Laforet, F. Lopez, C. Gehring, S. Bort, G. Rancurel, D. Decamps, S. Kostadinova, Y. Shapira, B. Neundoerfer, D. Chavrot, M. Solimena, J. P. Salier, W. Deberdt, R. Hoff-Jörgensen, A. Messina, S. Meairs, G. Rosoklija, E. Nelis, I. Bertran, C. Ertekin, J. Lohmeyer, Mitermayer Galvao dos Reis, L. Calo, E. Maccagnano, A. P. Hays, J. Verlooy, M. G. Forno, T. Blanco, L. Bail, Gabriella Silvestri, J. Montero, F. Bertrand, R. T. Ghnassia, C. Besses, T. Sereghy, F. Shalit, G. Bogliun, S. Braghi, St. Baykouchev, C. Franke, A. Lasa, L. C. Archard, J. Kriebel, S. Shaunak, M. Nocito, Alexander Tsiskaridze, E. Manfredini, T. Seigal, David G. Gadian, M. Barlas, J. D. Degos, C. Seeber, J. Caemert, J. L. Mas, R. B. Pepinsky, M. G. D'Angelo, N. Baumann, S. Yorifuji, H. P. Endtz, M. A. Cassatella, R. A. C. Hughes, V. Golzi, A. Bittencourt, A. Ferreira, M. Sanson, C. Alper, M. Vermeulen, M. A. A. van Walderveen, E. Alexiou, C. H. Lucas, M. Fiorelli, Y. N. Debbink, R. Gil, S. Congia, T. Banerjee, J. M. Bouchard, A. N. Pinto, A. Ceballos-Baumann, G. Grollier, P. I. M. Schmitz, M. D. Catata, N. Lahat, N. S. Rao, P. Papathanasopoulos, J. Valls-Solé, D. Claus, G. Schroter, A. Castro, C. Videbaek, R. Martinez Dreke, A. D. Platts, M. Hermesl, A. C. PeÇanha-Martins, M. Cardoso Silva, P. Masnou, M. J. A. Tanner, Ch. Confavreux, B. Mishu, H. Rasmussen, L. Valenciano, Carlo Pozzilli, S. W. Li, V. Salzman, Y. Vashtang, Massimo Franceschi, M. Severo, G. Deuschl, S. Setien, G. Mariani, A. Protti, J. Castillo, M. J. B. Taphoorn, M. Frontali, I. Milonas, D. Decoq, J. A. Navarro, S. Castellvi-Pel, C. Ertikin, M. Urtasun, Y. Lajat, B. E. Kendall, E. Verdu, B. Gueguen, E. Boisen, R. Couderc, A Danek, JM Stevens, F. Nicoli, L. Feltri, M. L. Vazquez-Andre, J. A. Morgan-Hughes, L. D'Angelo, F. Y. Liew, L. F. Pascual, J. Patrignani Ochoa, Vittorio Martinelli, J. Cophignon, L. Zhang, S. Martin, J. F. Meder, H. C. Buschmann, L. Bertin, J. van Gijn, A. Barreiro, A. Cools, C. Leon, A. Berod, E. A. Anllo, E. Zanette, L. Petrov, R. Barona, B. Gallicchio, P. J. Cozzone, N. Diederich, G. Cancel, L. Schelosky, P. Orizaola, K. Yulug, S. Ozer, Valeria A. Sansone, B. Guiraud-Chaumeil, K. Voigt, P. Labauge, M. Eoli, J. Zhu, J. Aguirre, M. Ferrarini, B. Zyluk, E. Planas, A. Cadilha, C. Tortorella, H. Bismuth, C. E. Counsell, A. Laun, A. Ferlini, Rio J. Montalban, N. Biary, L. Becker, M. Fardeau, M. Poloni, V. M. S. de Bruin, C. Fornada, J. Barros, E. Ganzmann, E. Touze, D. Wallach, J. Peila, H. Fujimura, M. T. Iba-Zizen, G. Macchi, C. Villoslada, R. Gouider, Ph. Rondepierre, P. Grummich, P. Chiodi, C. Conte, M. Michels, P. Annunziata, G. Semana, C. Sommer, J. Vajsar, D. Zekin, J. Kulisevsky, David G. Munoz, B. Jacotot, M. Magoni, A. Luxen, T. Garcia-Silva, S. Di Cesare, Christophe Tzourio, M. Gomori, I. Picomell, L. Santoro, F. Villa, Giovanni Pennisi, T. Ribalta, J. M. Molto, L. Marzorati, P. Loiseau, F. Gemignani, A. Gironell, J. Wissel, A. Prusinski, F. Cailloux, P. Villanueva-Hemandez, P. Cozzone, T. Del Ser, J. Sans-Sabrafen, M. Zappia, P. W. A. Willems, G. Tchernia, D. Gardeur, R. Bauer, F. Palomo, H. Metz, S. Lamoureux, C. Chastang, I. Reinhard, A. Goldfarb, S. Harder, Jordi Río, C. Ozkara, E. Tekinsoy, P. Vontobell, J. De Recondo, M. Rabasa, L. Lacomblez, F. Boon, Dgt Thomas, V. Palma, Renato Mantegazza, A. Dervis, M. Nueckel, B. YalÇinerner, I. Duran, G. Dalla Volta, A. Zubimendi, J. Pinheiro, A. Marbini, Xavier Montalban, H. Wekerle, X. Pereira Monteino, F. Crespo, F. Koskas, N. Battistini, C. Ruiz, H. Offner, J. de Pommery, P. Kanovsky, J. Y. Barnett, J. Pardo, G. Tomei, R. Rene, H. M. Lokhorst, P. Thajeb, H. Bilgin, D. McGehee, R. Fahsold, L. Morgante, Katie Sidle, C. Delwaide, M. N. Diaye, P. H. Rice, A. Creange, C. Sabev, K. Stephan, K. WeilBenborn, G. Magnani, L. Grymonprez, F. Cardellach, M. Kaps, N. G. Meco, F. Vega, V. Bonifati, A. Desomer, M. Baldy-Moulinier, G. Kvale, F. J. Authier, B. Yegen, T. Ho, J. M. Rozet, E. A. Cabanis, L. Bruce, L. Ambrosoli, M. A. Petrella, M. Hernandez, P. Timmings, H. B. van der Worp, F. Mahieux, A. Urbano-Marquez, D. A. Krendel, A. A. Garcia, R. Divari, R. Michalowicz, M. R. Piedmonte, M. Bondavalli, M. Zanca, P. F. Ippel, Onofre Combarros, B. Tavitian, E. Hirsch, I. Anastasopoulos, A. Roses, A. Köhler, P. Vienna, V. Timmerman, P. Sergi, F. Cornelio, A. Di Pasquale, R. Verleger, S. Castellvirel, J. Proano, B. van Moll, F. Rubio, W. Hacke, I. Lavenu, L. Zetta, M. W. Tas, N. Bittmann, M. Bonamini, O. R. Hommes, V. Dousset, N. Afsar, S. Belal, R. R. Myers, J. Goes, Giuseppe Vita, E. Clementi, V. G. Karepov, M. Jueptner, A Vincent, P. Emmrich, Th. Heb, A. Caballo, J. Gallego, T. Mokrusch, C. Perla, L. Gebuhrer, O. Titlbach, Alessandro Prelle, A. Czlonkowska, M. Russo, D. Hadjiev, T. S. Chkhikvishvili, M. Oehlschlager, G. Becker, I. Günther, E. N. Stenager, J. Garcia Agundez, J. Casademont, J. Batlle, S. Podobnik-Sarkanji, C. Alonso-Villaverde, B. Delaguillaume, B. Genc, B. Mazoyer, A. Rodriguez-Al-barino, Ch. Hilger, B. Ferrero, R. Price, W. Grisold, L. Fuhry, D. Oulbani, D. Ewing, A. Petkov, W. Walther, A. Gokyigit, John Newsom-Davis, J. Tayot, D. Seliak, G. Pelliccioni, D. Campagne, K. Kessler, F. Boureau, D. Perani, J. P. N'Guyen, N. Tchalucova, B. A. Antin-Ozerkis, C. Lacroix, B. D. Aronovich, I. H. Jenkins, E. A. dos Reis, M. Hortells, H. M. Meinck, H. Ch. Buschmann, S. C. J. M. Jacobs, T. Wetter, P. Creissard, N. Martinez, J. Weidenfeldl, H. J. Sturenburg, G. Damlacik, V. Gracia, J. C. Turpin, A. Pou-Serradell, J. P. Vincent, T. Gagoshidze, U. Ozkutlu, M. McLeod, K. Siegfried, I. Tchaoussoglou, J. Hildebrand, S. Kowalska, M. C. Picot, G. Galardin, L. Crevits, F. Andreetta, S. Larumbe-Lobalde, G. de la Sierra, J. C. Alvarez-Cermeno, R. J. Seitz, P. L. Oey, L. Ptacek, A. M. J. Paans, A. Wirrwar, A. Schmied, J. Uilchez, H. Tounsi, D. Hipola, V. Avoledo, Y. Hirata, P. Vermersch, T. M. Aisonobe, J. Valls-SoIè, H. Staunton, J. Dichgans, R. Karabudak, I. Dones, G. Porta, E. Janssens, Maria Martinez, J. M. Fernandez-Real, R. Villagra, Y. Yoshino, C. Kabus, K. Schimrigk, I. Girard-Buttaz, F. Piccoli, F. Aichner, P. Zuchegna, S. M. Al Deeb, F. Bono, N. Busquets, A. Jobert, Patrizia Ciscato, M. Martin, L. Polman, S. Darbra, V. Le Cam-Duchez, F. Baldissera, B. Baykan-Kurt, D. Guez, M. Bratoeva, H. Matsui, M. Mila, H. Perron, L. Bjorge, G. Husby, Steven T. DeKosky, D. R. Cornblath, J. M. Gabriel, J. J. Poza, Y. Wu, A. Toscano, R. P. Kleyweg, J. Kuhnen, S. O. Confort-Gouny, A. Barcelo, A. M. Conti, C. Fiol, C. Steichen-Wiehn, J. Rodes, M. Cavenaile, C. Vedeler, M. Drlicek, C. Argentino, M. L. Peris, A. Cervello, A. Z. GinaÏ, S. Yancheva, D. Passingham, S. Aoba, D. L. Lopez, T. Rechlin, K. Sonka, L. Grazzi, V. Folnegovic-Smalc, Maurizio Moggio, S. Rivaud, F. G. I. Jennekens, C. H. Hartard, H. Meierkord, G. Stocklin, M. D. Catala, W. C. McKay, E. Salmon, C. Navarro, I. Pastor, L. Canafoglia, M. De Braekeleer, P. K. Thomas, C. Mocellini, C. Pierre-Jerome, M. C. Dalakas, P. Pollak, M. Levivier, Niall Quinn, G. E. Rivolta, Z. Tunca, H. Zeumer, J. Garcia Tena, St. Guily, P. Gaudray, Johannes Kornhuber, V. Petrunjashev, R. Montesanti, R. J. Abbott, H. Petit, G. Kiteva-Trencevska, F. Carletto, C. Ramo, I. M. Pino, P. Beau, G. F. Mennuni, F. Moschian, F. Meneghini, B. Zdziarska, B. Fontaine, C. Stephens, G. Meco, K. Reiners, G. Badlan, M. Sessa, I. Degaey, S. M. Hassan, C. Albani, F. Caroeller, M. Schroeder, G. Savettieri, A. Novelletto, R. Kurita, P. Oschmann, I. Plaza, M. Oliveres, Simone Spuler, A. Molins, M. Schwab, J. R. Kalden, C. P. Gennaula, Y. Baklan, O. Picard, J. M. Léger, B. Mokri, E. Ghidoni, M. Jacob, D. Deplanque, W. JÄnisch, C. De Andres, P. De Deyn, G. Guomundsson, B. Herron, J. Barado, J. L. Gastaut, Guglielmo Scarlato, F. Poron, Nicola Jones, H. Teisserenc, C. P. Hawkins, A. J. Steck, H. C. Chandler, S. Blanc, J. H. Faiss, Jm. Soler Insa, I. Sarova-Ponchas, M. Malberin, A. Sackmann, G. De Vuono, K. Kaiser-Rub, K. Badhia, E. Szwabowska-Orzeszko, S. Ramm, C. Jodice, G. Franck, J. Marta-Moreno, R. Sciolla, C. Fritz, A. Attaccalite, F. Weber, E. Neuman, M. Cannata, A. Rodriguez, I. Nachainkin, R. Raffaele, T. S. Yu, N. Losseff, E. Fabrizio, C. Khati, M. Keipes, M. P. Ortega, M. Ramos-Alvarez, E. Brambilla, A. Tarasov, K. H. Wollinsky, O. B. Paulson, F. Boller, G. Bozzato, H. Wagnur, R. Canton, D. Testa, E. Kutluaye, M. Calopa, D. Smadja, G. Malatesta, F. Baggi, A. Stracciari, G. Daral, G. Avanzini, J. Perret, J. Arenas, P. Boon, I. Gomes, A. Vortmeyer, P. Cesaro, S. Venz, E. Bernd Ringelstein, N. Milani, D. Laplane, P. Seibel, E. Tournier-Lasserve, Alexis Brice, L. Motti, E. Wascher, R. J. Abbot, F. Miralles, A. Turon, P. De Camilli, G. Luz, G. C. Guazzi, S. Tekin, F. Lesoin, T. Kryst, N. Lannoy, F. Gerstenbrand, S. Ballivet, H. A. M. van Diemen, J. Lopez-ArLandis, P. Bell, A. Silvani, M. A. Garcia, S. Vorstrup, D. Langdon, S. Ueno, B. Sander, V. Ozurk, C. Gurses, P. Berlit, J. M. Martinez-Lage, M. Treacy, S. O. Rodiek, S. Cherninkova, J. Grimaud, P. Marozzi, K. Hasert, S. Goldman, S. H. Ingwersen, A. Taghavy, T. Roig, R. Harper, I. Sarova-Pinchas, Anthony H.V. Schapira, R. Lebtahi, A. Vidaller, B. Stankov, D. Link, J. p. Malin, V. Petrova, Ludwig Kappos, J. L. Ochoa, T. Torbergsen, M. Carpo, M. Donato, Simon Shorvon, J. Mieszkowski, J. Perez-Serra, Raymond Voltz, G. Comi, S. Rafique, A. Perez-Sempere, N. Khalfallah, S. Bailleul, M. Borgers, S. Banfi, S. Mossman, A. Laihinen, G. Filippini, R. A. Grunewald, E. Stern, H. D. Herrmann, A. G. Droogan, P. Xue, A. Grilo, L. La Mantia, J. H. J. Wokke, S. Pizzul, Kie Kian Ang, S. Rapaport, W. Szaplyko, B. Romero, P. Brunet, A. Albanese, C. Davie, V. Crespi, F. Birklein, H. Sharif, L. Jose, D. Auer, N. Heye, Martin N. Rossor, C. E. Henderson, M. J. Koepp, J. Rubio, P. L. Baron, S. Mahal, Juha O. Rinne, J. I. Emparanza, S. E. C. Davies, Frederik Barkhof, M. Riva, R. E. Brenner, B. A. Pope, Lemaire, E. Dupont, D. Ulbricht, G. C. Pastorino, R. Retska, E. Chroni, A. Danielli, V. Malashkhia, T. Canet, J. C. Garcia-Valdecasas, J. Serena, R. A. Pfeiffer, B. Wirk, B. Muzzetto, V. Caruso, M. L. Giros, A. Ming Wang, E. L. E. Guern, F. Bille-Turg, Y. Satoh, C. H. Franke, M. Ait-Kaci-Ahmed, D. Genis, T. Pasierski, D. Riva, M. Panisset, A. Chamorro, P.A. van Doorn, S. Schellong, H. Hamer, F. Durif, P. Krauseneck, Y. Bahou, B. A. Pickut, M. Rijnites, H. Nyland, G. Jager, L. L. Serra, A. Rohl, X. P. Li, O. Arena, Hubert Kwieciński, N. Milpied, M. C. Bourdel, S. Assami, L. Law, J. Moszkowski, J. W. Thorpe, M. Aguennouz, R. Martin, D. Hoffmann, P. Morris, A. Destée, D. J. Charron, U. Senin, A. P. SempereE, M. Dreyfus, A. L. Benabid, M. Gomez, S. Heindle, M. C. Morel-Kopp, M. Hennerici, A. I. Santos, M. Djannelidze, N. Artemis, John Collinge, T. Rundek, M. Y. Voloshin, P. de Castro, Th. Wiethege, D. A. S. Compston, D. Schiffer, A. J. Hughes, D. Jimenez, V. Parlato, A. Papadimitriou, J. M. Gergaud, R. Sterzi, J. Arpa, G. de Pinieux, F. Buggle, P. Gimbergues, H. Ruottinen, R. Marzella, W. Koehler, Y. Yurekli, A. Haase, Z. Privorkin, G. K. Harvey, B. Chave, A. J. Grau, E. M. Stadlan, J. List, C. Zorzi, B.W. van Oosten, P. Derkinderen, B. Casati, J. M. Maloteaux, K. Vahedi, W. L. J. van Putten, J. C. Sabourin, D. Lorenzetti, Plenevaux, J. W. B. Moll, A. Morento Fernandez, M. Lema, M. A. Horsfleld, P. De Jongh, S. Gikova, K. Kutluk, Monique M.B. Breteler, P. Saddier, A. Berbinschi, R. E. Cull, P. Echaniz, H. Kober, C. Minault, V. Kramer, A. L. Edal, S. Passero, T. Eckardt, K. E. Davies, A. Salmaggi, R. Kaiser, A. A. Grasso, Claudio Mariani, G. Egersbach, Hakan Gurvit, O. Dereeper, C. Vital, L. Wrabetz, A. Vecino, M. Aguilar, G. Bielicki, H. Becher, J. Castro, S. Iotti, M. G. Natali-Sora, E. Berta, S. Carlomagno, L. Ayuso-Peralta, P. H. Rondepierre, I. Bonaventura, B. V. Deuren, N. Van Blercom, M. Sciaky, J. Faber, M. Alberoni, M. Nieto, F. Sellal, C. Stelmasiak, M. Takao, J. Bradley, D. Zegers de Beyl, H. Porsche, G. Goi, H. Pongratz, F. Chapon, S. Happe, Robin S. Howard, B. Weder, S. Vlaski-Jekic, J. M. Ferro, R. Nemni, A. Daif, Herbert Budka, W. Van Paesschen, B. Waldecker, F. Carceller, J. Lacau, F. Soga, J. Peres Serra, E. Timmerman, A. M. vd Vliet, J. L. Emparanza, N. Vanacore, A. Pizzuti, N. Marti, A. Davalos, N. Ayraud, U. Zettl, J. Vivancos, Z. Katsarou, H. M. Mehdorn, G. Geraud, M. Merlini, M. Schröter, A. Ebner, M. Lanteri-Minet, R. Soler, G. P. Anzola, S. L. Hauser, L. Cahalon, S. DiDonato, R. Cantello, M. Marchau, J. Gioanni, F. Heidenreich, J. Manuel Martinez Lage, P. Descoins, F. Woimant, J. F. Campo, M. H. Verdier-taillefer, M. S. F. Barkhof, G. J. Kemp, A. O. Ceballos-Baumann, J. Berciano, M. Guidi, Tarek A. Yousry, B. Chandra, A. Rapoport, P. Canhao, A. Spitzer, T. Maeda, J. M. Pereira Monteiro, V. Paquis, Th. Mokrusch, F. J. Arrieta, I. Sangla, F. Canizares-Liebana, Lang Chr, André Delacourte, V. Fetoni, P. Kovachev, D. Kidd, L. Ferini-Strambi, E. Donati, E. Idman, A. Chio, C. Queiros, D. Michaelis, S. Boyacigil, A. Rodrigo, S. M. Yelamos, B. Chassande, P. Louwen, C. Tranchant, E. Ciafalon, A. Lombardo, A. Twijnstra, A. L. Fernandez, H. Kott, A. Cannas, N. Zsurger, T. Zileli, E. Metin, P. C. Bain, G. Fromont, B. Tedesi, A. Liberani, X. Navarro, M. C. Rowbotham, V. Hachinski, F. Cavalcanti, W. Rostene, R. M. Gardiner, F. Gonzalez, B. Köster, E. A. van der Veen, J. P. Lefaucheur, C. Marescaux, D. Boucquey, E. Parati, S. Yamaguchi, A. S. Orb, R. Grant, G. D. P. Smith, P. Goethals, M. Haguenau, G. Georgiev, I. N. van Schaik, Guy A. Rouleau, E. Iceman, G. Fayet, M. G. Kaplitt, C. Baracchini, H. Magnusson, G. Meneghetti, N. Malichard, M. L. Subira, D. Mancia, A. Berenguer, D. Navarrete Palau, H. Franssen, G. Kiziltan, M. P. Lopez, J. Montalt, S. Norby, R. Piedra Crespo, T. L. Rothstein, R. Falip, B. YalÇiner, F. Chedru, I. W. Thorpe, F. W. Heatley, D. S. C. Ochoa, C. Labaune, M. Devoti, O. Lider, Jakob Korf, N. Suzuki, E. A. Maguire, A. Moulignier, J. C. van Swieten, F. Monaco, J. Cartron, A. Steck, B. Uludag, M. Alexandra, H. Reichmann, T. Rossi, L. E. Claveria, A. M. Crouzel, M. A. Mena, J. Gasnault, J. W. Kowalski, S. I. Mellgren, V. Feigin, L. Demisch, J. Montalban, J. Renato, J. Mathieu, N. Goebels, L. Bava, K. Kunre, M. Pulik, S. Di Donato, C. Tzekov, H. Veldman, S. Giménez-Roldan, B. Lechevalier, L. Redondo, B. Pillon, M. Gugenheim, E. Roullet, J. M. Valdueza, C. Gori, H. J. Friedrich, L. de Saint Martin, F. Block, E. Basart, M. Heilmann, B. Becq Giraudon, C. Rodolico, G. Stevanin, Elizabeth K. Warrington, A. T. M. Willemsen, K. Kunze, C. Ben Hamida, M. Alam, J. R. ùther, A. Battistel, G. Della Marca, Richard S. J. Frackowiak, F. Palau, T. Brandt, Chicoutimi, L. Bove, L. Callea, A. Jaspert, T. Klopstock, K. Fassbender, Alan J. Thomas, A. Ferbert, V. Nunes, Douglas Russell, P. Garancini, C. Sanz-Sebastian, O. Santiag, G. Dhaenens, G. Seidel, I. Savic, A. Florea-Strat, M. Rousseaux, N. Catala, E. O'Sullivan, M. J. Manifacier, H. Kurtel, T. Mendel, P. Chariot, M. Salas, D. Brenton, R. Lopez, J. Thorpe, Jimmy D. Bell, E. Hofmann, E. Botia, J. Pacquereau, A. Struppler, C. d'Aniello, D. Conway, A. Garcia-Merino, K. Toyooka, S. Hodgkinson, E. Ciusani, Stefano Bastianello, A. Andrade Filho, M. Zaffaroni, G. Pleiffer, F. Coria, A. Schwartz, D. Baltadjiev, I. Rother, K. Joussen, J. Touchon, K. Kutlul, P. Praamstra, H. Sirin, S. Richard, C. Mariottu, L. Frattola, S. T. Dekesky, G. Wieneke, M. Chatel, O. Godefroy, C. Desnuelle, S. OzckmekÇi, C. H. Zielinski, P. van Deventer, S. Jozwiak, I. Galan, J. M. Grau, V. Vieira, T. A. Treves, S. Ertan, A. Pujol, S. Blecic, E. M. Zanette, F. Ceriani, W. Camu, L. Aquilone, A. Benomar, F. Greco, A. Pascual-Leone Pascual, T. Yanagihara, F. A. Delfino, R. Damels, S. Merkelbach, J. Beltran, A. Barrientos, S. Brugge, B. Hildebrandt-Müller, M. H. Nascimento, M. Rocchi, F. Cervantes, E. Castelli, R. M. Pressler, S. Yeil, A. del Olmo, J. L. Herranz, L. J. Kappelle, Y. Demir, N. Inoue, R. Hershkoviz, A. Luengo, S. Bien, F. Viallet, P. Malaspina, G. De Michele, G. Nolfe, P. Adeleine, T. Liehr, G. Fenelon, H. Masson, Kailash P. Bhatia, W. Haberbosch, S. Mederer, R. S. J. Frackowiak, Tanya Stojkovic, S. Previtali, A. E. Harding, W. Kohler, N. P. Quin, T. R. Marra, J. P. Moisan, A. Melchor, M. L. Viguera, Mary G. Sweeney, G. L. Romani, J. Hezel, R. A. Dierckx, R. Torta, A. Kratzer, T. Pauwels, D. Decoo, Adriana Campi, Neil Kitchen, J. Haas, U. Neubauer, J. J. Merland, A. Yagiz, A. Antonuzzo, A. Zangaladze, J. Parra, Pablo Martinez-Lage, D. J. Brooks, S. Hauser, R. Di Pierri, M. Campero, R. Caldarelli-Stefano, A. M. Colangelo, J. L. Pozo, C. Estol, F. Picard, A. Palmieri, J. Massons, JT Phillips, G. B. Groozman, R. Pentore, L. M. Ossege, C. Bayon, Hans-Peter Hartung, R. Konyalioglu, R. Lampis, D. Ancri, M. Miletta, F. J. Claramonte, W. Retz, F. Hentges, JM Cooper, M. Cordes, M. Limburg, M. Brock, G. R. Coulton, K. Helmke, Rosa Larumbe, A. Ohly, F. Landgraf, A. M. Drewes, Claudia Trenkwalder, M. Keidel, T. Segura, C. Scholz, J. HÄgele, D. Baudoin-Martin, P. Manganelli, J. Valdueza, M. Farinotti, U. Zwiener, M. P. Schiavalla, Y. P. Young, O. Barlas, G. Hertel, E. H. Weiss, M. Eiselt, A. Lossos, M. Bartoli, L. Krolicki, W. Villafana, W. Peterson, Nicoletta Meucci, C. Agbo, R. Luksch, F. Fiacco, G. Ponsot, M. Lopez, Howard L. Weiner, M. D. Alonso, K. Petry, Sanjay M. Sisodiya, P. Giustini, S. Tyrdal, R. Poupon, J. Blanke, P. Oubary, A. A. Kruize, H. Trabucchi, R. R. C. Stewart, H. Grehl, B. M. Kulig, V. Vinhas, D. Spagnoli, B. Mahe, J. Tatay, C. Hess, M. D. Albadalejo, G. Birbamer, M. Alonso, F. Valldeoriola, J. Figols, I. Wirguin, E. Diez Tejedor, C. S. Weiller, L.H. van den Berg, P. Barreiro, L. Pianese, S. Cocozza, R. Kohnen, E. Redolfi, F. Faralli, G. Gosztonyl, A. J. Gur, A. Keyser, V. Fichter-Gagnepain, B. Wildemann, E. Omodeo-Zorini, Gregoire, J. Schopohl, F. Fraschini, G. Wunderlich, B. Jakubowska, F. P. Serra, N. B. Jensen, O. Delattre, C. Leno, A. Dario, P. Grafe, F. Graus, M. C. Vigliani, J. L. Dobato, Philip N. Hawkins, R. Marés, A. Rimola, N. Meussi, G. Aimard, W. Hospers, A. M. Robertson, C. Kaplan, W. Lamadé, Karen E. Morrison, Amadio, E. Kieffer, F. Dromer, P. Bernasconi, M. Repeto, Davide Pareyson, Jeremy Rees, A. Guarneri, P. Odin, P. Bouche, L. Nogueira, J. Munoz, L. Leocani, M. J. Arcusa, R. S. J. Frackowiack, John S. Duncan, D. Karacostas, D. Edwin, I. Costa, M. Menetrey, P. Grieb, A. M. Salvan, S. Cunha, P. Merel, P. Pfeiffer, A. Astier, F. Federico, A. Mrabet, M. G. Buzzi, L. Knudsen, I. F. Pye, L. Falqui, C. R. Hornig, C. E. Shaw, C. Brigel, T. C. Britton, R. Codoceo, T. Pampols, Vincent J. Cunningham, N. Archidiacono, G. Chazot, J. B. Posner, L. L. O. Befalo, M. Monclus, C. Cabezas, H. Moser, H. Stodal, J. Ley-Pozo, L. Brusa, R. Di Mascio, P. Giannini, J. Fernandez, R. Santiago Luis, J. Garcia Tigera, J. Wilmink, P. Pignatelli, M. El Amrani, V. Lucivero, M. Baiget, R. Lodi, P. H. Cabre, L. Grande, A. Korczyn, R. Fahlbusch, C. Milanese, W. Huber, J. Susseve, H. C. Nahser, K. Mondrup, X. O. Breakefield, J. Sarria, T. H. Vogt, A. Alessandri, M. Daffertshofer, I. Nelson, M. L. Monticelli, O. Dammann, G. G. Farnarier, G. Felisari, A. Quattrini, A. Boiardi, P. Mazetti, H. Liu, J. Duarte, M. E. Gaunt, H. Strik, N. Yulug, A. Urman, J. Posner, Aida Suarez Gonzalez, Ma. L. Giros, Z. Matkovic, D. Kompf, A. D. Korczyn, A. Steinbrecher, R. Wenzel, M. C. de Rijk, R. Doronzo, J. Julien, O. Hasegawa, M. Kramer, V. Collado-Scidel, M. Alonso de Lecinana, L. Dell'Arciprete, S. Rapuzzi, S. Bahar, H. Willison, M. T. Ramacci, J.J. Martin, Lopez-Bresnahan, C. Malapani, R. Haaxma, T. Rosenberg, J. Patrignani, R. Vichi, Martin R. Farlow, J. Roquer, L. Krols, M. Pimenta, C. Bucka, U. Klose, M. Roberts, J. Salas-Puig, R. Ghnassia, A. Mercuri, C. Maltempo, I. Tournev, P. Homeyer, D. Caparros-Lefevre, E. P. O. Sullivan, T. Vashadze, Ph. Lyrer, A. Deltoro, H. Kondo, M. Steinling, A. Graham, G. C. Miescher, A. Pace, D. Branca, G. Avello, H. H. Kornhuber, D. Fernandes, H. Friedrich, R. Chorao, H. O. Lüders, R. T. Bax, J. A. Macias, N. Yilmaz, J. Veroust, M. Miller, S. Confort-Gouny, J. L. Sastre, D. Servello, G. Boysen, S. Koeppen, V. Planté-Bordeneuve, H. Albrecht, R. H. M. King, G. Orkodashili, R. Doornbos, H. Toyooka, V. Larrue, M. Sabatelli, K. Williams, M. Stevens, V. Maria, M. Comabella, C. Lammers, R. M. L. Poublon, E. Tizzano, P. Pazzaglia, F. Zoeller, M. B. Delisle, J. P. Goument, J. M. Minderhoud, A. Sghirlanzoni, V. Meininger, M. Al Deeb, C. Bertelt, A. Cagni, A. Algra, F. Morales, K. A. Flugel, M. Maidani, M. Noya, Z. Seidl, U. Roelcke, D. Cannata, E. Katiane EmbiruÇu, E. M. Wicklein, K. Willmes, L. Hanoglu, J. F. Pellissier, Yves Agid, E. Cuadrado, S. Brock, D. Maimone, Z. G. Nadareishvili, E. Matta, S. Hilmi, V. Assuerus, F. Lomena, R. Springer, F. Cabrera-Valdivia, Oscar L. Lopez, M. Casazza, F. Vivancos, Ralf Gold, T. Crawford, B. Moulard, M. Poisson, W. l. McDonald, D. E. Grobbe, Alan Connelly, H. Ozcan, S. Abeta, H. Severo Ochoa, A. C. van Loenen, E. Libson, M. J. Marti, B. George, C. Ferrarese, B. Jacobs, L. Divano, T. Ben-Hur, A. L. Bootsma, V. Martinez, A. Conti, R. P. Maguire, B. Schmidt, D. M. Campos, D. A. Guzman, E. Meary, C. Richart, P. B. Christensen, T. Schroeder, Massimo Zeviani, K. Jensen, R. Aliaga, S. Seitz-Dertinger, J. W. Griffin, C. Fryze, H. Baas, S. Braun, A. M. Porrini, B. Yemez, M. J. Sedano, C. Creisson, A. Del Santo, A. Mainz, R. Kay, S. Livraghi, R. de Waal, D. Macgregor, H. Hefter, R. Garghentino, U. Ruotsalainen, M. Matsumoto, M. G. Beaudry, P. M. Morrison, J. C. Petit, C. Walon, Ph. Chemouilli, F. Henderson, R. Massa, A. Cruz Martinez, U. Liska, F. Hecht, Ernst Holler, V. S. de Bruin, B. B. Sheitman, S. M. Bentzen, C. Bayindir, F. Pallesta, P. E. Roland, J. Parrilla, P. Zunker, L. F. Burchinskaya, G. Mellino, S. Ben Ayed, D. Bonneau, P. Nowacki, M. Goncalves, P. Riederer, N. Mavroudakis, J. Togores, L. Rozewicz, S. Robeck, Y. Perez Gilabert, L. Rampello, A. Rogopoulos, S. Martinez, F. Schildermans, C. Radder, P. B. Hedlund, J. Cambier, M. Aabed, G. D. Jackson, P. Gasparini, P. Santacruz, J. Vandevivere, H. Dural, A. Mantel, W. Dorndorf, N. Ediboglu, A. Lofgren, J. Bogousslavsky, P. Thierauf, L. Goullard, R. Maserati, B. Moering, M. Ryba, J. Serra, G. G. Govan, A. Pascual-Leone, S. Schaeffer, M. R. Rosenfeld, A. P. Correia, K. Ray Chaudhuri, L. Campbell, R. Spreafico, B. Genetet, A. M. Tantot, R. A. G. Hughes, J. A. Vidal, G. Erkol, J. Y. Delattre, B. Yaqub, B. K. Hecht, E. Mayayo, Ph. Scheltens, J. Corral, M. Calaf, L. Henderson, C. Y. Li, U. Bogdahn, R. Sanchez-Roy, M. Navasa, J. Ballabriga, G. Broggi, T. Gudeva, C. Rose, J. Vion-Dury, J. A. Gastaut, J. Pniewski, Nicola J. Robertson, G. Kohncke, M. Billot, S. Gok, E. Castellli, F. Denktas, P. Bazzi, F. Spinelli, I. F. Moseley, C. D. Mardsen, B. Barbiroli, O. M. Koriech, A. Miller, Hiroaki Yoshikawa, F. X. Borruat, J. Zielasek, P. Le Coz, J. Pascual, A. Drouet, L. T. Giron, F. Schondube, R. Midgard, M. Alizadeh, M. Liguori, Lionel Ginsberg, L. Harms, C. Tilgner, G. Tognoni, F. Molteni, Mar Tintoré, M. Psylla, C. Goulon-Goeau, M. V. Aguilar, Massimo Filippi, K. H. Mauritz, Thomas V. Fernandez, C. Basset, S. Rossi, P. Meneses, B. Jandolo, T. Locatelli, D. Shechtcr, C. Magnani, R. Ferri, Bruno Dubois, J. M. Warier, S. Berges, F. Idiman, M. Schabet, R. R. Diehl, P. D'aurelio, M. Musior, Reinhard Hohlfeld, P. Smeyers, M. Olivé, A. Riva, C. A. Broere, N. Egund, S. Franceschetti, V. Bonavita, Nicola Canal, E. Timmermans, M. Ruiz, S. Barrandon, G. Vasilaski, B. Deweer, L. Galiano, S. F. T. M. de Bruijn, L. Masana, A. Goossens, B. Heye, K. Lauer, Heinz Gregor Wieser, Stephen R. Williams, B. Garavaglia, A. P. Sempere, F. Grigoletto, P. Poindron, R. Lopez-Pajares, I. Leite, T. A. McNell, C. Caucheteur, J. M. Giron, A. D. Collins, P. Freger, J. Sanhez Del Rio, D. A. Harn, K. Lindner, S. S. Scherer, G. Serve, M. Juncadella, X. Estivill, R. Binkhorst, M. Anderson, B. Tekinsoy, C. Sagan, T. Anastopoulos, G. Japaridze, S. Guillou, F. Erminio, Jon Sussman, P. G. Oomes, D. S. Rust, S. Mascheroni, O. Berger, M. Peresson, K. V. Toyka, T. W. Polder, M. Huberman, B. Arpaci, H. Ramtami, I. Martinez, Ph. Violon, P. P. Gazzaniga Pozzill, R. Ruda, P. Auzou, J. Parker, S. P. Morrissey, Jiahong Zhu, F. Rotondi, P. Baron, W. Schmid, P. Doneda, M. Spadaro, M. C. Nargeot, I. Banchs, J.S.P. van den Berg, R. Ferrai, M. Robotti, M. Fredj, Pedro M. Rodríguez Cruz, B. Erne, D. G. Piepgras, M. C. Arne-Bes, J. Escudero, C. Goetz, A. R. Naylor, M. Hallett, O. Abramsky, E. Bonifacio, L. E. Larsson, R. Pellikka, P. Valalentino, D. Guidetti, B. Buchwald, C. H. Lücking, D. Gauvreau, F. Pfaff, A. Ben Younes-Chennoufi, R. Kiefer, R. Massot, K. A. Hossmann, L. Werdelin, P. J. Baxter, U. Ziflo, S. Allaria, C. D. Marsden, M. Cabaret, S. P. Mueller, E. Calabrese, R. Colao, S. I. Bekkelund, M. Yilmaz, O. Oktem-Tanor, R. Gine, M. E. Scheulen, J. Beuuer, A. Melo, Z. Gulay, M. D. Have, C. Frith, D. Liberati, J. Gozlan, P. Rondot, Ch. Brunholzl, M. Pocchiari, J. Pena, L. Moiola, C. Salvadori, A. Cabello, T. Catarci, S. Webb, C. Dettmers, N. A. Gregson, Alexandra Durr, F. Iglesias, U. Knorr, L. Ferrini-Strambi, F. Kruggel, P. Allard, A. Coquerel, P. Genet, F. Vinuels, C. Oberwittler, A. Torbicki, P. Leffers, B. Renault, B. Fauser, C. Ciano, G. Uziel, J. M. Gibson, F. Anaya, C. Derouesné, C. N. Anagnostou, M. Kaido, W. Eickhoff, G. Talerico, M. L. Berthier, A. Capdevila, M. Alons, D. Rezek, E. Wondrusch, U. Kauerz, D. Mateo, M. A. Chornet, Holon, N. Pinsard, I. Doganer, E. Paoino, H. Strenge, C. Diaz, J. R. Brasic, W. Heide, I. Santilli, W. M. Korn, D. Selcuki, M. J. Barrett, D. Krieger, T. Leon, T. Houallah, M. Tournilhac, C. Nos, D. Chavot, F. Barbieri, F. J. Jimenez-Jimenez, J. Muruzabal, K. Poeck, A. Sennlaub, L. M. Iriarte, L. G. Lazzarino, C. Sanz, P. A. Fischer, S. D. Shorvon, R. Hoermann, F. Delecluse, M. Krams, O. Corabianu, F. H. Hochberg, Christopher J. Mathias, B. Debachy, C. M. Poser, L. Delodovici, A. Jimenez-Escrig, F. Baruzzi, F. Godenberg, D. Cucinotta, P. J. Garcia Ruiz, K. Maier-Hauff, P. R. Bar, R. Mezt, R. Jochens, S. Karakaneva, C. Roberti, E. Caballero, Joseph E. Parisi, M. Zamboni, T. Lacasa, B. Baklan, J. C. Gautier, J. A. Martinez-Matos, W. Pollmann, G. Thomas, L. Verze, E. Chleide, R. Alvarez Sala, I. Noel, E. Albuisson, O. Kastrup, S. I. Rapoport, H. J. Braune, H. Lörler, M. Le Merrer, A. Biraben, S. Soler, S. J. Taagholt, U. Meyding-Lamadé, K. Bleasdale-Barr, Isabella Moroni, Y. Campos, J. Matias-Guiu, G. Edan, M. G. Bousser, John B. Clark, J. Garcia de Yebenes, N. K. Olsen, P. Hitzenberger, S. Einius, Aj Thompson, Ch. J. Vecht, T. Crepin-Leblond, Klaus L. Leenders, A. Di Muzio, L. Georgieva, René Spiegel, K. Sabey, D. Ménégalli, J. Meulstee, U. Liszka, P. Giral, C. Sunol, J. M. Espadaler, A. D. Crockar, K. Varli, G. Giraud, P. J. Hülser, A. Benazzouz, A. Reggio, M. Salvatore, K. Genc, M. Kushnir, S. Barbieri, J. Ph. Azulay, M. Gianelli, N. Bathien, A. AlMemar, F. Hentati, I. Ragueneau, F. Chiarotti, R. C. F. Smits, A. K. Asbury, F. Lacruz, B. Muller, Alan J. Thompson, Gordon Smith, K. Schmidt, C. Daems Monpeun, Juergen Weber, A. Arboix, G. R. Fink, A. M. Cobo, M. Ait Kaci Ahmed, E. Gencheva, Israel-Biet, G. Schlaug, P. De Jonghe, Philip Scheltens, K. Toyka, P. Gonzalez-Porque, A. Cila, J. M. Fernandez, P. Augustin, J. Siclia, S. Medaglini, D. E. Ziogas, A. Feve, L. Kater, G. J. E. Rinkel, D. Leppert, Rüdiger J. Seitz, S. Ried, C. Turc-Carel, G. Smeyers, F. Godinho, M. Czygan, M. Rijntjes, E. Aversa, M. Frigo, Leif Østergaard, J. L. Munoz Blanco, A. Cruz-Matinez, J. De Reuck, C. Theillet, T. Barroso, V. Oikonen, Florence Lebert, M. Kilinc, C. Cordon-Cardon, G. Stoll, E. Thiery, F. Pulcinelli, J. Solski, M. Schmiegelow, L. J. Polman, P. Fernandez-Calle, C. Wikkelso, M. Ben Hamida, M. Laska, E. Kott, W. Sulkowski, C. Lucas, N. M. Bornstein, D. Schmitz, M. W. Lammers, A. de Louw, R. J. S. Wise, P. A. van Darn, C. Antozzi, P. Villanueva, P. H. E. Hilkens, C. Constantin, W. Ricart, A. Wolf, M. Gamba, P. Maguire, Alessandro Padovani, B. M. Patten, Marie Sarazin, H. Ackermann, L. Durelli, S. Timsit, Sebastian Jander, B. W. Scheithauer, G. Demir, J. P. Neau, P. Barbanti, A. Brand, N. AraÇ, V. Fischer-Gagnepain, R. Marchioli, G. Serratrice, C. Maugard-Louboutin, G. T. Spencer, D. Lücke, G. Mainardi, K. Harmant Van Rijckevorsel, G. B. Creel, R. Manzanares, Francesco Fortunato, A. May, J. Workman, K. Johkura, E. Fernandez, Carlo Colosimo, L. Calliauw, L. Bet, Félix F. Cruz-Sánchez, M. Dhib, H. Meinardi, F. Carrara, J. Kuehnen, C. Peiro, H. Lassmann, K. Skovgaard Olsen, A. McDonald, L. Sciulli, A. Cobo, A. Monticelli, B. Conrad, J. Bagunya, J. Benitez, V. Desnizza, B. Dupont, O. Delrieu, D. Moraes, J. J. Heimans, F. Garcia Rio, M. Matsumto, A. Fernandez, R. Nermni, R. Chalmers, M. J. Marchau, F. Aguado, P. Velupillai, P. J. Martin, P. Tassan, V. Demarin, A. Engelien, T. Gerriets, Comar, J. L. Carrasco, J. P. Pruvo, A. Lopez de Munain, D. Pavitt, J. Alarcon, Chris H. Polman, B. Guldin, N. Yeni, Hartmut Brückmann, N. Wilczak, H. Szwed, R. Causaran, G. Kyriazis, M. E. Westarp, M. Gasparini, N. Pecora, J. M. Roda, E. Lang, V. Scaioli, David R. Fish, D. Caputo, O. Gratzl, R. Mercelis, A. Perretti, G. Steimetz, I. Link, C. Rigoletto, A. Catafau, G. Lucotte, M. Buti, G. Fagiolari, A. Piqueras, C. Godinot, J. C. Meurice, Erodriguez J. Dominigo, F. Lionnet, H. Grzelec, David J. Brooks, P. M. G. Munro, F. X. Weilbach, M. Maiwald, W. Split, B. Widjaja-Cramer, V. Ozturk, J. Colas, E. Brizioli, J. Calleja, L. Publio, M. Desi, R. Soffietti, P. Cortinovis-Tourniaire, E. F. Gonano, G. Cavaletti, S. Uselli, K. Westerlind, H. Betuel, C. O. Dhiver, H. Guggenheim, M. Hamon, R. Fazio, P. Lehikoinen, A. Esser, B. Sadzot, G. Fink, Angelo Antonini, D. Bendahan, V. Di Carlo, G. Galardi, A. F. Boller, M. Aksenova, Del Fiore, V. de la Sayette, H. Chabriat, A. Nicoletti, A. Dilouya, M. L. Harpin, E. Rouillet, J. Stam, A. Wolters, M. R. Delgado, Eduardo Tolosa, G. Said, A. J. Lees, L. Rinaldi, A. Schulze-Bonhage, MA Ron, C. Lefebvre, E. W. Radü, R. Alvarez, M. L. Bots, P. Reganati, S. Palazzi, A. Poggi, N. J. Scolding, V. Sazdovitch, T. Moreau, E. Maes, M. A. Estelies, P. Petkova, Jose-Felix Marti-Masso, G De La Meilleure, N. Mullatti, M. Rodegher, N. C. Notermans, T. A. T. Warner, S. Aktan, J. P. Louboutin, L. Volpe, C. Scheidt, W. Aust, C. M. Wiles, U. Schneider, S. K. Braekken, W. R. Willems, K. Usuku, Peter M. Rothwell, C. Talamon, M. L. Sacchetti, A. Codina, M. H. Marion, A. Santoro, J. Roda, A. Bordoni, D. J. Taylor, S. Ertas, H. H. Emmen, J. Vichez, V. BesanÇon, R. E. Passingham, M. L. Malosio, A. Vérier, M. Bamberg, A. W. Hansen, E. Mostacero, G. Gaudriault, Marie Vidailhet, B. Birebent, K. Strijckmans, F. Giannini, T. Kammer, I. Araujo, J. Nowicki, E. Nikolov, A. Hutzelmann, R. Gherardi, J. Verroust, L. Austoni, A. Scheller, A. Vazquez, S. Matheron, H. Holthausen, J. M. Gerard, M. Bataillard, S. Dethy, V. H. Patterson, V. Ivanez, N. P. Hirsch, F. Ozer, M. Sutter, C. Jacomet, M. Mora, Bruno Colombo, A. Sarropoulos, T. H. Papapetropoulos, M. Schwarz, D. S. Dinner, N. Acarin, B. Iandolo, J. O. Riis, P. R. J. Barnes, F. Taroni, J. Kazenwadel, L. Torre, A. Lugaresi, I. L. Henriques, S. Pauli, S. Alfonso, Pedro Quesada, A. S. T. Planting, J. M. Castilla, Thomas Gasser, M. Van der Linden, A. Alfaro, E. Nobile-Orazio, G. Popova, W. Vaalburg, F. G. A. van der Mech, L. Williams, F. Medina, J. P. Vernant, J. Yaouanq, B. Storch-Hagenlocher, A. Potemkowski, R. Riva, M. H. Mahagne, M. Ozturk, Ve. Drory, N. Konic, C. Jungreis, A. Pou Serradell, J. L. Gauvrit, G. J. Chelune, S. Hermandez, T. Dingus, L. Hewer, Ch. Koch, M. N. Metz-Lutz, G. Parlato, M. Sinaki, Charles Pierrot-Deseilligny, H. C. Diener, J. Broeckx, J. Weill-Fulazza, M. L. Villar, M. Rizzo, O. Ganslandt, C. Duran, N. A. Fletcher, G. Di Giovacchino, Susan T. Iannaccone, C. Kolig, N. Fabre, H. A. Crockard, Rita Bella, M. Tazir, E. Papagiannuli, K. Overgaard, Emma Ciafaloni, I. Lorenzetti, F. Viader, P. A. H. Millac, I. Montiel, L. H. Visser, M. Palomar, P. L. Murgia, H. Pedersen, Rafael Blesa, S. Seddigh, W. O. Renier, I. Lemahieu, H. M. L. Jansen, L. Rosin, J. Galofre, K. Mattos, M. Pondal, G. M. Hadjigeorgiou, D. Francis, L. Cantin, D. Stegeman, M. Rango, A. B. M. F. Karim, S. Schraff, B. Castellotti, I. Iriarte, E. Laborde, T. J. Tjan, R. Mutani, D. Toni, B. Bergaasco, J. G. Young, C. Klotzsch, A. Zincone, X. Ducrocq, M. Uchuya, O. J. Kolar, A. Quattrone, T. Bauermann, Nereo Bresolin, J. Vallée, B. C. Jacobs, A. Campos, Werner Poewe, J. A. Villanueva, A. W. Kornhuber, A. Malafosse, E. Diez-Tejedor, G. Jungreia, M. J. A. Puchner, A. Komiyama, O. Saribas, V. Volpini, L. Geremia, S. Bressi, A. Nibbio, Timothy E. Bates, T. z. Tzonev, E. Ideman, G. A. Damlacik, G. Martino, G. Crepaldi, T. Martino, Kjell Någren, E. Idiman, D. Samuel, J. M. Perez Trullen, Y. van der Graaf, J. O. Thorell, M. J. M. Dupuis, E. Sieber, R. D'Alessandro, C. Cazzaniga, J. Faiss, A. Tanguy, A. Schick, I. Hoksergen, A. Cardozo, R. Shakarishvili, G. K. Wennlng, J. L. Marti-Vilalta, J. Weissenbach, I. L. Simone, Amalia C. Bruni, Darius J. Adams, C. Weiller, A. Pietrangeli, F. Croria, C. Vigo-Pelfrey, Patricia Limousin, A. Ducros, G. Conti, O. Lindvall, E. Richter, M. Zuffi, A. Nappo, T. Riise, J. Wijdenes, M. J. Fernandez, J. Rosell, P. Vermersh, S. Servidei, M. S. C. Verdugo, F. Gouttiere, W. Solbach, M. Malbezin, I. S. Watanabe, A. Tumac, W. I. McDonald, D. A. Butterfield, P. P. Costa, F. deRino, F. Bamonti, J. M. Cesar, C. H. Lahoz, I. Mosely, M. Starck, M. H. Lemaitre, K. M. Stephan, S. Tex, R. Bokonjic, I. Mollee, L. Pastena, M. Gutierrez, F. Boiler, M. C. Martinez-Para, M. Velicogna, O. Obuz, A. Grinspan, M. Guarino, L. M. Cartier, E. Ruiz, D. Gambi, S. Messina, M. Villa, Michael G. Hanna, J. Valk, Leone Pascual, M. Clanet, Z. Argov, B. Ryniewicz, E. Magni, B. Berlanga, K. S. Wong, C. Gellera, C. Prevost, F. Gonzalez-Huix, R. Petraroli, J. E. G. Benedikz, I. Kojder, C. Bommelaer, L. Perusse, M. R. Bangioanni, Guy M. McKhann, A. Molina, C. Fresquet, E. Sindern, Florence Pasquier, M. J. Rosas, M. Altieri, O. Simoncini, M. Koutroumanidis, C. A. F. Tulleken, M. Dary-Auriol, S. Oueslati, H. Kruyer, I. Nishisho, C. R. Horning, A. Vital, G. V. Czettritz, J. Ph. Neau, B. Mihout, A. Ameri, M. Francis, S. Quasthoff, D. Taussig, S. Blunt, P. Valentin, C. Y. Gao, O. Heinzlef, H. d'Allens, C. Coudero, M. Erfas, G. Borghero, P. J. Modrego Pardo, M. C. Patrosso, N. L. Gershfeld, P. A. J. M. Boon, O. Sabouraud, M. Lara, J. Svennevig, G. L. Lenzi, A. Barrio, H. Villaroya, JosÇ M. Manubens, O. Boespflug-Tanguy, M. Carreras, D. A. Costiga, J. P. Breux, S. Lynn, C. Oliveras Ley, A. G. Herbaut, J. Nos, C. Tornali, Y. A. Hekster, J. L. Chopard, J. M. Manubens, P. Chemouilli, A. Jovicic, F. Dworzak, S. Smirne, S. E. Soudain, B. Gallano, D. Lubach, G. Masullo, G. Izquierdo, A. Pascual Leone Pascual, A. Sessa, V. Freitas, O. Crambes, L. Ouss, G. W. Van Dijk, P. Marchettini, P. Confalonieri, M. Donaghy, A. Munnich, M. Corbo, and M. E. L. van der Burg
Subjects: Neurology, business.industry, Media studies, Library science, Medicine, Neurology (clinical), business
Published: 1994
Full Text: View/download PDF

14. APOE ε4 allele is associated with an increased risk of bulbar-onset amyotrophic lateral sclerosis in men

Author: J, Praline, H, Blasco, P, Vourc'h, M-A, Garrigue, P H, Gordon, W, Camu, P, Corcia, and C R, Andres
Subjects: Male, Genotype, Amyotrophic Lateral Sclerosis, Apolipoprotein E4, Bulbar Palsy, Progressive, Middle Aged, Cohort Studies, Sex Factors, Gene Frequency, Cytoprotection, Risk Factors, Case-Control Studies, Androgens, Humans, Female, Genetic Predisposition to Disease, Aged, Signal Transduction
Abstract: Several association studies have identified possible susceptibility factors for sporadic amyotrophic lateral sclerosis (SALS). Studies on the APOE gene provided conflicting results, especially about the effect on bulbar onset. We assessed the possible role of APOE gene in a large cohort of patients with ALS and matched controls. The APOE alleles were determined in 1482 patients with SALS and 955 controls and analysed by univariate and multivariate statistics, taking into account gender, site-of-onset and age-at-onset. Patients with bulbar onset were more likely to be women [odds ratio (OR)=2.17; 95% CI: 1.74-2.72] and to be older (OR=3.47; 95% CI: 2.58-4.67). The ε4-carriers were more frequent in the bulbar-onset group than in the limb-onset group (OR=1.39 bulbar onset versus limb onset; 95% CI: 1.08-1.80) but this association was observed amongst men (OR=1.78; 95% CI: 1.25-2.53) and not women (OR=1.09; 95% CI: 0.75-1.59). Our study provides evidence for a contribution of the ε4 allele in the occurrence of bulbar-onset ALS amongst men. We propose that men are normally protected by androgens against bulbar onset and that the ε4 allele inhibits this protection, perhaps by interfering with the androgen pathway.
Published: 2011

15. Quel avenir pour le traitement de la SLA

Author: W. Camu
Subjects: Neurology, Neurology (clinical)
Published: 2014
Full Text: View/download PDF

16. [Demyelinating disease affecting both central and peripheral nervous system]

Author: C, Carra-Dallière, A, Mania, B, Carlander, W, Camu, and R, Juntas-Morales
Subjects: Adult, Male, Polyneuropathies, Central Nervous System Diseases, Humans, Peripheral Nervous System Diseases, Ataxia, Demyelinating Diseases
Abstract: Demyelinating disease affecting both the central and the peripheral nervous systems has rarely been reported.A 30-year-old man, presented with ataxia and diffuse areflexia due to polyneuropathy fullfilling demyelination criteria. His medical history was notable for central nervous system demyelination compatible with multiple sclerosis. He improved transiently with intravenous immunoglobulin and then stabilized with methotrexate.This case report distinguishes a new kind of inflammatory disease affecting both central and peripheral nervous system. It seems to be different from multiple sclerosis and chronic immune demyelinating polyneuropathy, because of high hyperproteinorachia and absence of oligoclonal bands in the cerebrospinal fluid.
Published: 2010

17. [Longitudinal study of health related quality of life in multiple sclerosis: correlation with MRI parameters]

Author: M, Cohen, C, Lebrun, D, Aufauvre, S, Chanalet, C, Filleau-Bertogliatti, W, Camu, P, Thomas, G, Malandain, and P, Clavelou
Subjects: Adult, Male, Adolescent, Brain, Contrast Media, Gadolinium, Middle Aged, Multiple Sclerosis, Chronic Progressive, Neuropsychological Tests, Magnetic Resonance Imaging, Recombinant Proteins, Young Adult, Cognition, Interferon Type I, Disease Progression, Image Processing, Computer-Assisted, Quality of Life, Humans, Female, Longitudinal Studies, Atrophy
Abstract: Health related quality of life (HRQOL) is often affected in multiple sclerosis (MS). Nevertheless, to our knowledge, there is no longitudinal study in the literature about the correlation between MRI parameters and HRQOL in MS patients.We included 28 patients with clinically definite relapsing remitting MS. All patients initiated subcutaneous interferon beta-1a therapy. To assess HRQOL, we used the SEP-59 scale, the French validated translation of MSQOL-54, and the MusiQoL scale. Conventional MRI was performed every year. Lesion load (LL) and brain atrophy were automatically measured using SepINRIA, a free software developed by INRIA in Sophia Antipolis.The mean EDSS score was 1.7 and disease duration was 2.5 years. Our results revealed that HRQOL was significantly correlated to T1 and T2-LL with both SEP-59 and MusiQoL scales. T1-LL was better correlated with physical dimensions and T2-LL was better correlated with mental components. At 1-year follow-up, patients whose MRI showed either an increase of T1 LL or at least one gadolinium enhancing lesion had a worse HRQOL at the end of the study. Initial brain parenchymal fraction (BPF) measure was also correlated with the long-term follow-up HRQOL. EDSS scored at the end of the study had not significantly changed (1.3; P0.05).Our study revealed pertinent clinicoradiological correlations between HRQOL and MRI parameters in our cohort.
Published: 2009

18. [Recurrent Guillain-Barré syndrome after surgery]

Author: N, Olivier, H, Laribi, M, Pages, W, Camu, and R, Juntas Morales
Subjects: Anesthesia, Epidural, Male, Electromyography, Arthroplasty, Replacement, Hip, Molecular Mimicry, Neural Conduction, Guillain-Barre Syndrome, Diagnosis, Differential, Postoperative Complications, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Recurrence, Reaction Time, Humans, Female
Abstract: Recurrent Guillain-Barré syndrome is a very rare entity. Few cases have been reported.We report two patients who have developed a recurrent Guillain-Barré syndrome where one or even two episodes occurred after the same type of surgery, a hip prosthesis replacement.Occurrence of Guillain-Barré syndrome after surgery has mainly been reported in relation to epidural anesthesia and less frequently general anesthesia. Although underlying pathogenic mechanisms remain unknown, a molecular mimicry phenomenon has been proposed.
Published: 2009

19. Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

Author: I, Le Ber, A, Camuzat, E, Berger, D, Hannequin, A, Laquerrière, V, Golfier, D, Seilhean, G, Viennet, P, Couratier, P, Verpillat, S, Heath, W, Camu, O, Martinaud, L, Lacomblez, M, Vercelletto, F, Salachas, F, Sellal, M, Didic, C, Thomas-Anterion, M, Puel, B-F, Michel, C, Besse, C, Duyckaerts, V, Meininger, D, Campion, B, Dubois, A, Brice, Patrice, Verpillat, 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), Service de Neurologie [CHU Limoges], and CHU Limoges
Subjects: Male, Candidate gene, Pathology, Genetic Linkage, DNA Mutational Analysis, Penetrance, MESH: Genetic Markers, MESH: Genotype, 0302 clinical medicine, MESH: Genetic Screening, MESH: Aged, 80 and over, MESH: Penetrance, MESH: Motor Neuron Disease, Copy-number variation, MESH: DNA Mutational Analysis, Age of Onset, Genetics, MESH: Aged, Aged, 80 and over, 0303 health sciences, MESH: Middle Aged, MESH: Genetic Predisposition to Disease, Autosomal dominant trait, Chromosome Mapping, Middle Aged, MESH: Dementia, Pedigree, MESH: Young Adult, Female, Psychology, Chromosomes, Human, Pair 9, Frontotemporal dementia, Adult, Genetic Markers, medicine.medical_specialty, MESH: Mutation, Genotype, MESH: Pedigree, MESH: Age of Onset, Locus (genetics), 03 medical and health sciences, Young Adult, medicine, Dementia, Humans, Genetic Predisposition to Disease, Genetic Testing, Motor Neuron Disease, 030304 developmental biology, Aged, MESH: Humans, MESH: Adult, medicine.disease, MESH: Male, Mutation, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neurology (clinical), Age of onset, MESH: Chromosome Mapping, MESH: Chromosomes, Human, Pair 9, MESH: Linkage (Genetics), MESH: Female, 030217 neurology & neurosurgery
Abstract: International audience; BACKGROUND: Frontotemporal dementia associated with motor neuron disease (FTD-MND) is a rare neurodegenerative disorder that may be inherited by autosomal dominant trait. No major gene has been identified but a locus was mapped on chromosome 9 (9p21.3-p13.3). METHODS: Ten French families with FTD-MND were tested for linkage to the 9p21.3-p13.3 region. We report extensive mutation screening in 9p-linked families and their clinical characteristics. RESULTS: We identified six new families with evidence for linkage to the chromosome 9p. Cumulative multipoint LOD score values were positive between markers D9S1121 and D9S301, reaching a peak of 8.0 at marker D9S248. Haplotype reconstruction defined the telomeric boundary at marker AFM218xg11, slightly narrowing the candidate interval. We found no disease-causing mutations by sequencing 29 candidate genes including IFT74 and no copy number variations in the 9p region. The mean age at onset was 57.9 +/- 10.3 years (range, 41-84), with wide heterogeneity within and among families suggesting age-dependant penetrance. The patients presented isolated FTD (32%), isolated MND (29%), or both disorders (39%). The general characteristics of the disease did not differ, except for an older age at onset and shorter disease duration in the 9p-linked compared to nonlinked families. TDP-43-positive neuronal cytoplasmic inclusions were found in cortex and spinal cord in 3 patients. CONCLUSIONS: This study increases the number of 9p-linked families now reported and shows that this locus may have a major effect on frontotemporal dementia (FTD) and motor neuron disease (MND). Considering our results, the causative gene might be implicated in at least 60% of the families with FTD-MND disorder.
Published: 2009
Full Text: View/download PDF

20. [Sensory-motor neuropathy: a slow and misleading case of leprosy]

Author: A, Gabelle, J M, Vallat, B, Flageul, P, Andre, W, Camu, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [CHU Limoges], CHU Limoges, Biomolécules Thérapies anti-tumorales (EA4021), and Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)
Subjects: [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Mycobacterium lepraemurium, MESH: Clofazimine, Leprostatic Agents, Clofazimine, Diagnosis, Differential, MESH: Adrenal Cortex Hormones, Adrenal Cortex Hormones, MESH: Diagnosis, Differential, Leprosy, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, MESH: Aspirin, Aged, MESH: Aged, MESH: Dapsone, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Aspirin, MESH: Mycobacterium lepraemurium, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, MESH: Rifampin, MESH: Leprosy, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Macrophages, Peritoneal, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Rifampin, MESH: Leprostatic Agents, Dapsone, MESH: Macrophages, Peritoneal, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; The diagnostic process of sensory-motor neuropathies is difficult. Atypical variants and rare etiologies also contribute to delay the diagnosis. We report the case of a 70-year-old woman with slowly progressive asymmetric axonal sensory-motor neuropathy. Leprosy was identified after an eight-year delay. Nerve biopsy was required to establish the diagnosis: electron microscopy revealed debris of Hansen's bacillus in the nerve. Treatment was fully curative after several months. Leprosy is a rare cause of neuropathy in Europeans. Systematic inquiry about travel to endemic areas would be helpful in establishing the diagnosis. In such cases, nerve biopsy is crucial.
Published: 2008
Full Text: View/download PDF

21. [Psychological treatment for the patient and caregivers during the course of amyotrophic lateral sclerosis]

Author: S, Roy-Bellina and W, Camu
Subjects: Family Health, Psychotherapy, Caregivers, Amyotrophic Lateral Sclerosis, Humans
Abstract: Amyotrophic lateral sclerosis is a devastating disorder for which the psychological consequences of both the diagnosis announcement and the evolution of paralysis not only concern the patient but also his family. The role of the psychologist is to develop an individualized follow up considering the patient in his globality. The first consultation is, ideally, initiated after a medical consultation explaining the importance of the psychological area in ALS patient care. The psychological follow up will consist in an empathic listening of history and problems. Information will also be given to the patient by the psychologist who's role should not be only passive. When talking about "globality" of the psychological intervention for a given patient, his family takes a determinant place. The psychologist should be able to establish a contact with the family members concerned by the daily support to the patient. The psychological processes through which a patient will evolve should be explained to the family. Depression frequently affects family members, and a specific follow up in those cases has to be undertaken as soon as possible. Such a depressive reaction may also take place after death and a psychological follow up do not end after the death of a patient. The role of a psychologist in ALS care ideally takes places in the context of a multidisciplinary team such as a motoneuron clinic now largely available in our country. The burden of care is frequently heavy both for the family and the team of professional carers into and outside the hospital. The psychologist has a role of mediation between those persons, facilitating verbal exchanges, paying attention to specific difficulties and maintaining a fruitful exchange between the carers, the patient and his family. More prospectively, the psychologist also has a pedagogic role for the carers explaining psychological processes and giving clues for a constructive relationship between the patient and his family and also between this patient and his carers.
Published: 2006

22. [What is the role of the genetic survey in amyotrophic lateral sclerosis?]

Author: W, Camu
Subjects: Diagnosis, Differential, Amyotrophic Lateral Sclerosis, Humans, Genetic Testing
Abstract: The genetic inquiry in the diagnostic process of amyotrophic lateral sclerosis (ALS) need to be precise and systematic. Several hereditary neurologic disorders may initially mimic ALS, such as dominant spino-cerebellar ataxia or spastic paraplegia. Other hereditary motor neuron disorders are clinically more difficult to distinct from ALS such as Kennedy's disease, adult-onset spinal muscular atrophies or juvenile ALS. When a final diagnostic of ALS is established, the genetic inquiry aims at identifying a familial ALS (FALS) case. Almost 10 to 20 percent of ALS cases are familial. It is now admitted that 10 to 20 percent of those cases are due to SOD1 gene mutations. Such mutations may have a dominant or recessive inheritance. They are mainly found in multigenerational families. In 80 percent of the FALS cases, only two ALS cases are found in the pedigree. One cannot know whether this represent dominant cases with low penetrance, recessive inheritance or a multigenic, hereditary complex, disorder. More other, not all the SOD1 mutations have been demonstrated as causal. These elements are strong enough to suggest to precisely study, in the presence of a given SOD1 mutation, both the clinical phenotype, the data from the literature and, as often as possible, the segregation of the mutation into the family, before ascertaining that the mutation is responsible for a hereditary case of ALS. In every case, the genetic inquiry together with its conclusions should be done with caution, taking into account both the patient's need of a clear information and his anxiety regarding his descent.
Published: 2006

23. [Leflunomide-related severe axonal neuropathy]

Author: A, Gabelle, J C, Antoine, D, Hillaire-Buys, E, Coudeyre, and W, Camu
Subjects: Arthritis, Rheumatoid, Anti-Inflammatory Agents, Non-Steroidal, Humans, Female, Isoxazoles, Middle Aged, Severity of Illness Index, Axons, Cranial Nerve Diseases, Leflunomide, Aged
Abstract: Leflunomide is a new drug for the treatment of rheumatoid arthritis. Its mechanism of action is based on lymphocyte inhibition. We report the cases of two patients treated with leflunomide who developed severe sensory-motor axonal polyneuropathy.Two women (61- and 70-year-old) presented with a sensory-motor axonal polyneuropathy beginning 5 months after onset of leflunomide treatment. Etiologic investigations were negative. The symptoms rapidly improved after withdrawing leflunomide.The analysis of drug watch data found twelve patients with leflunomide-related neuropathy. Ten of them were more than 60 years old. The mean delay for onset of neuropathy was 9 months. The neuropathy improved after treatment withdrawal in seven patients.We consider these data strongly suggest that leflunomide is a cause of axonal sensory-motor neuropathy. The prevalence of such adverse events is still unknown.
Published: 2005

24. [Spinal muscular atrophies in the adult]

Author: W, Camu
Subjects: Adult, Diagnosis, Differential, Muscular Atrophy, Spinal, Humans, Syndrome, Prognosis, Case Management
Abstract: Spinal muscular atrophies are heterogeneous group. The diagnostic process should be careful to uncover the main differential diagnoses and to identify familial cases. Clinical phenotype is highly variable. In familial ALS cases with SOD1 mutation, the clinical scene may mimic spinal muscular atrophy. A careful questionning and a complete electroneuromyographic exam are warranted to allow the neurologist to choose among more invasive investigations for differential and positive diagnosis such as MRI, nerve or muscle biopsy, genetic analysis.
Published: 2004

25. [Superoxyde dismutase 1 gene abnormalities in familial amyotrophic lateral sclerosis: phenotype/genotype correlations. The French experience and review of the literature]

Author: H F, Jafari-Schluep, J, Khoris, V, Mayeux-Portas, C, Hand, G, Rouleau, and W, Camu
Subjects: Phenotype, Superoxide Dismutase-1, Genotype, Superoxide Dismutase, Humans, Family, Motor Neuron Disease
Abstract: About 20 p. cent of cases of amyotrophic lateral sclerosis are familial (FALS). Fifteen percent of FALS cases are associated with an abnormality in the superoxide dismutase 1 (SOD1) gene. To date, more than 100 different genetic abnormalities have been reported, all except two are autosomal dominant. The clinical characteristics of patients presenting with FALS associated with an SOD1 abnormality is homogeneous when there is no doubt about the hereditary aspect of the genetic abnormality: mean age at onset 42 years, limb onset, slow evolution. Except when present in the setting of a clearly inherited disease (FALS) (several patients through several generations), the causality of a given SOD1 mutation often remains an open question. Consequently, search for SOD1 mutation is not warranted when atypical features such as young age at onset or slow progression are present. Conversely, a complete family study is justified to determine the precise role of a given SOD1 mutation because of the large number of potential SOD1 mutations, the variability of the transmission mode, and the non-exceptional absence of proven causality for ALS. Specific cases where a frequent SOD1 mutation with a recognized causal effect is recognized (no more than 15 out of more than 90 mutations) would be an exception.
Published: 2004

26. [Respiratory disorders during sleep in amyotrophic lateral sclerosis]

Author: W, Camu
Subjects: Polysomnography, Humans, Sleep, REM, Motor Neuron Disease, Respiratory Center, Prognosis, Sleep Apnea, Central
Abstract: Amyotropic lateral sclerosis is a severe degenerative disease of the nervous system. Progressive death of central and peripheral motor neurons leads to rapidly extensive paralysis of the four limbs, the bulbar region and the respiratory system. Sleep respiratory disorders is a useful sign to follow in these patients. Apnea is generally central rather than obstructive. Hypoventilation, particularly during REM sleep has been reported and causes nocturnal desaturation. These patients also appear to have a disrupted sleep pattern with a longer phase I and a shorter total duration of sleep. These nocturnal respiratory disorders observed in amyotropic lateral sclerosis are similar to those observed in muscle diseases. Management must however be undertaken very early in these patients because outcome can be rapidly fatal after the development of significant desaturation. Nasal ventilation can improve not only quality of life but also life expectancy for these patients.
Published: 2002

27. [Acute motor axonal neuropathy and aseptic meningitis due to Staphylococcus aureus endocarditis]

Author: P, Corne, P, Massanet, L, Amigues, W, Camu, J J, Béraud, and O, Jonquet
Subjects: Staphylococcus aureus, Fever, Endocarditis, Bacterial, Meningitis, Meningococcal, Staphylococcal Infections, Quadriplegia, Axons, Anti-Bacterial Agents, Polyneuropathies, Fatal Outcome, Acute Disease, Humans, Female, Meningitis, Aseptic, Diagnostic Errors, Purpura, Aged
Abstract: Central nervous system complications are commonly described in Staphylococcus aureus endocarditis but peripheral nervous system involvement is rare.We report the case of a 65-year-old woman who had tetraparesia and aseptic meningitis revealing S. aureus endocarditis. The presence of purpura on the lower limbs led to an initial diagnosis of meningococcal meningitis. Tetraparesia was due to an acute motor axonal neuropathy. Anti-GM1 antibodies were negative. Meningitis and tetraparesia improved with antibiotic therapy.Acute motor axonal neuropathy may be a presenting symptom of S. aureus endocarditis.
Published: 2001

28. Monofocal motor neuropathy responsive to intravenous immunoglobulins

Author: H, Jafari, B, Carlander, and W, Camu
Subjects: Male, Humans, Immunoglobulins, Intravenous, Motor Neuron Disease, Aged
Published: 2000

29. [Adverse efects of riluzole (Rilutek) in the treatment of amyotrophic lateral sclerosis]

Author: I, Roch-Torreilles, W, Camu, and D, Hillaire-Buys
Subjects: Male, Neuroprotective Agents, Riluzole, Amyotrophic Lateral Sclerosis, Product Surveillance, Postmarketing, Humans, Female, Middle Aged, Aged
Abstract: Amyotrophic lateral sclerosis (ALS) is a rapidly fatal degenerative disorder of the motoneurones which was without any effective therapy until 1997. Riluzole (Rilutek) has been the first patented drug used in its specific treatment. In order to evaluate the tolerability profile of this molecule, a Pharmacovigilance study was undertaken in the Department of Neurology B at the Montpellier University Hospital. A total of 153 patients were studied and all observed side-effects were listed in the French bank of Pharmacovigilance. Riluzole induced one or more adverse effects in 50.3 per cent of patients. The most frequent were gastrointestinal disturbances, hepatotoxicity and asthenia. Dermatological, haematological, neuropsychiatric and metabolic side-effects were also reported. This study shows an acceptable safety profile for riluzole. Due to its mode of action, riluzole could potentially be used in the treatment of other neurodegenerative diseases involving glutamate excitotoxicity. Subsequently, Pharmacovigilance will have to be carried out to establish the proper use of riluzole.
Published: 2000

30. Cutaneous adverse events related to glatiramer acetate injection (copolymer-1, Copaxone®)

Author: E Thouvenot, W Camu, N Kluger, and Bernard Guillot
Subjects: business.industry, Glatiramer Acetate, Dermatology, Pharmacology, Drug Hypersensitivity, Infectious Diseases, Copolymer, Humans, Medicine, Glatiramer acetate, Peptides, business, Adverse effect, Immunosuppressive Agents, Skin, medicine.drug
Published: 2009
Full Text: View/download PDF

31. Genetics of familial ALS and consequences for diagnosis. French ALS Research Group

Author: W, Camu, J, Khoris, B, Moulard, F, Salachas, V, Briolotti, G A, Rouleau, and V, Meininger
Subjects: Adult, Diagnosis, Differential, Male, Phenotype, Amino Acid Substitution, Superoxide Dismutase, Amyotrophic Lateral Sclerosis, Humans, Point Mutation, Female, Exons, Pedigree
Abstract: Familial amyotrophic lateral sclerosis (fALS) is a well-recognised condition that accounts for almost 10% of all cases of ALS. Most cases are now known to be transmitted by an autosomal dominant trait. When fALS is compared clinically to sporadic ALS, 20% of cases manifest atypical features such as pain, paraesthesia or urgency micturition. Moreover, a disease duration of over 10 years, with very slow progression, appears to occur almost exclusively in cases of fALS. Studies of superoxide dismutase (SOD1) mutations in fALS have shown that the disease may be multidegenerative, with oculomotor or cerebellar involvement. Molecular genetics has also demonstrated that not all SOD1 mutations have a dominant influence, and the detailed description of the Scandinavian D90A homozygous mutation is very informative in this regard. Misdiagnosis of fALS can be attributed to one of the following situations: (i) atypical phenotype ALS with a multidegenerative profile; (ii) unusually long lasting ALS with mild motor neuron involvement; (iii) significant clinical heterogeneity between affected family members; (iv) low reliability of family history; (v) existence of an unknown or unexpected mode of transmission; and (vi) other multidegenerative disorders with motor neuron involvement. Pedigrees and fALS cases corresponding to these situations are presented.
Published: 1999

32. [Clinical study of familial forms of amyotrophic lateral sclerosis. Review of the literature]

Author: B, Moulard, W, Camu, A, Malafosse, M, Billiard, and M, Baldy-Moulinier
Subjects: Causality, Amyotrophic Lateral Sclerosis, Age Factors, Humans
Abstract: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder involving both upper and lower motor neurons. The disease is possibly due to several factors, including a genetic one. This is supported by the existence of 5 to 10 p. 100 familial cases. In these pedigrees, the transmission is autosomal dominant, with a high penetrance (90 p. 100). We studied the phenotypes of these familial cases, in reviewing the literature on familial ALS (FALS). It has been noted that FALS are heterogeneous, with different age of onset, site of onset and disease duration. Moreover, in FALS, onset is earlier than in the sporadic form (48 vs 60 years, as usually reported in the literature). We also frequently noted sensory disorders (20 p. 100), onset on the lower limbs (46 p. 100) and decreased or absent ankle-jerks (75 p. 100) in FALS patients.
Published: 1997

33. Motor evoked potentials (MEPs): evaluation of the different types of responses in amyotrophic lateral sclerosis and primary lateral sclerosis

Author: A, Salerno, B, Carlander, W, Camu, and M, Georgesco
Subjects: Adult, Male, Rest, Amyotrophic Lateral Sclerosis, Motor Cortex, Neural Conduction, Pyramidal Tracts, Neural Inhibition, Middle Aged, Evoked Potentials, Motor, Spinal Cord Diseases, Reaction Time, Humans, Female, Motor Neuron Disease, Muscle, Skeletal, Aged, Muscle Contraction
Abstract: We studied different motor evoked potential parameters: cortical threshold (CT), primary response (PR) latency and amplitude and central conduction time (CCT) at rest and after maximal voluntary contraction of the target muscles, silent period (SP) and late muscular responses (LMR) in 21 normal subjects 42- to 75-years old and compared the results to those of 17 patients with motor disease (10 amyotrophic lateral sclerosis, ALS and 7 primary lateral sclerosis (PLS). We report for the first time in patients affected by motor diseases, LMRs were similar to controls. We found abnormalities in both ALS and PLS: enhanced cortical threshold, reduced PR amplitude during maximal voluntary contraction of target muscles compared to rest and shorter SP. CCT was slightly different: in ALS it was normal or undetermined (because of lack of the PR), while it was normal, enhanced or undetermined in PLS. We conclude that except for LMR, additional parameters would be useful for studying motor diseases: CT (reflecting excitability of the central cells), PR amplitudes and SP (disclosing inhibitory pathway disturbances in pyramidal tract diseases).
Published: 1996

34. Étude des gènes SMN dans les maladies du motoneurone de l’adulte

Author: P. Corcia, J. Khoris, V. Mayeux-Portas, C. Andres, and W. Camu
Subjects: Neurology, Neurology (clinical), Biology
Published: 2004
Full Text: View/download PDF

35. Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)

Author: G. Raux, Jacques Touchon, J.J. Hauw, Yves Dauvilliers, Florence Portet, W. Camu, O. Lyon-Caen, and Dominique Campion
Subjects: Adult, medicine.medical_specialty, DNA Mutational Analysis, Plaque, Amyloid, Neuropsychological Tests, medicine.disease_cause, Presenilin, Central nervous system disease, Fatal Outcome, Degenerative disease, Alzheimer Disease, Parietal Lobe, Internal medicine, Presenilin-1, medicine, PSEN1, Humans, Gene, Tomography, Emission-Computed, Single-Photon, Mutation, business.industry, Membrane Proteins, Neurofibrillary Tangles, medicine.disease, Magnetic Resonance Imaging, Temporal Lobe, Frontal Lobe, Endocrinology, Amino Acid Substitution, nervous system, Frontal lobe, Disease Progression, Cancer research, Female, Neurology (clinical), Alzheimer's disease, business
Abstract: The authors describe a 28-year-old woman with histopathologically confirmed early onset Alzheimer disease characterized by severe frontal lobe involvement associated with a de novo mutation in the presenilin 1 gene (PSEN1).
Published: 2003
Full Text: View/download PDF

36. [Somatosensory evoked potentials in amyotrophic lateral sclerosis and primary lateral sclerosis]

Author: M, Georgesco, A, Salerno, B, Carlander, J J, Léger, W, Camu, M, Billiard, and J, Cadilhac
Subjects: Adult, Male, Evoked Potentials, Somatosensory, Amyotrophic Lateral Sclerosis, Sensation Disorders, Neural Conduction, Humans, Female, Middle Aged, Aged
Abstract: Somatosensory evoked potentials (SEPs) were studied in 21 cases of amyotrophic lateral sclerosis (ALS) and 7 cases of primary lateral sclerosis (PLS). Despite the lack of clinical sensory abnormalities, SEPs showed abnormalities in both diseases: lack or delay of some components. In ALS these abnormalities indicate widespread sensory disturbance. In PLS only, the Brodmann area 4 seems to be affected.
Published: 1994

37. Maturation and integration of purified foetal neurons transplanted into the adult brain

Author: J, Cadusseau, V, Devignot, W, Camu, C E, Henderson, and M, Peschanski
Subjects: Neurons, Fetal Organ Maturity, Spinal Cord, Fetal Tissue Transplantation, Animals, Brain, Rats
Abstract: Fetal neural transplants presently developed as a therapeutic strategy for neurodegenerative diseases include both the neurons of interest and their cellular environment. These glial and vascular cells may be detrimental by, for instance, expressing foreign MHC antigens. This study was undertaken to determine whether purified neurons would survive transplantation into an adult host brain. Embryonic rat spinal neurons were purified by panning and transplanted into adult hosts' brain. During the first three weeks post-transplantation the grafts contained essentially packed immature neurons. Later transplants contained large, multipolar neurons, demonstrating the ability of transplanted neurons to mature in the adult environment. The adult host appears actively involved in the integration of such a transplant by complementing it with microglial and vascular cells.
Published: 1993

38. Transplantation of serotonergic neurons into the 5,7-DHT-lesioned rat olfactory bulb restores the parameters of kindling

Author: Mireille Lerner-Natoli, Gérard Rondouin, L. Marlier, W. Camu, and Alain Privat
Subjects: Male, medicine.medical_specialty, Serotonin, 5,7-Dihydroxytryptamine, Biology, Serotonergic, Right olfactory bulb, Stereotaxic Techniques, chemistry.chemical_compound, Internal medicine, medicine, Kindling, Neurologic, Animals, Molecular Biology, Cerebral Cortex, Neurons, Kindling, General Neuroscience, Desipramine, Rats, Inbred Strains, Olfactory Bulb, Electric Stimulation, Olfactory bulb, Rats, Transplantation, Endocrinology, chemistry, Olfactory nuclei, Raphe Nuclei, Neurology (clinical), Neuroscience, Developmental Biology
Abstract: In order to restore a normal pattern of kindling, kindled rats, previously lesioned in the olfactory nuclei with 5,7-dihydroxytryptamine, were grafted with serotonin (5-HT) neurons in the right olfactory bulb and then implanted for kindling procedure. It was observed that complete 5-HT lesions accelerated the kindling profile, and that the transplants containing 5-HT neurons restored, in lesioned rats, quite normal parameters.
Published: 1990

39. Les SLA familiales sont-elles cliniquement différentes ?

Author: W. Camu
Subjects: Neurology, Neurology (clinical)
Published: 2007
Full Text: View/download PDF

40. La radiographie thoracique : « fond d'œil des viscères å

Author: P. Céballos, Amadou Konaté, W. Camu, AJ Ciurana, and A. Le Quellec
Subjects: Gastroenterology, Internal Medicine
Published: 2000
Full Text: View/download PDF

41. Tomoscintigraphie cérébrale et potentiels évoqués cognitifs dans la sclérose amyotrophique bulbaire

Author: W. Camu, J. Touchon, F. Portet-Tarodo, and M.C. Gety-Nargeot
Subjects: Neurology, Physiology (medical), Neurology (clinical), General Medicine
Published: 1999
Full Text: View/download PDF

42. Comparative Performances of 4 Serum NfL Assays, pTau181, and GFAP in Patients With Amyotrophic Lateral Sclerosis.

Author: Mondesert E, Delaby C, De La Cruz E, Kuhle J, Benkert P, Pradeilles N, Duchiron M, Morchikh M, Camu W, Cristol JP, Hirtz C, Esselin F, and Lehmann S
Subjects: Humans, Female, Male, Aged, Middle Aged, Phosphorylation, Cohort Studies, Prognosis, Amyotrophic Lateral Sclerosis blood, Amyotrophic Lateral Sclerosis diagnosis, Glial Fibrillary Acidic Protein blood, Neurofilament Proteins blood, tau Proteins blood, Biomarkers blood
Abstract: Background and Objectives: Selecting the most appropriate blood tests is crucial for the management of patients with amyotrophic lateral sclerosis (ALS). This study evaluates the diagnostic and prognostic performance of neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), and phosphorylated tau 181 (pTau181) biomarkers in ALS to establish their clinical relevance and cutoff values., Methods: In a cohort of patients from the ALS center in Montpellier, we conducted a head-to-head comparison of 4 different technologies and 3 distinct serum analytes: NfL was tested using the ultrasensitive Simoa and the microfluidic Ella platforms, along with 2 assays recently set up on clinical-grade platforms: Lumipulse and Elecsys. We also used Elecsys to assess serum GFAP and pTau181., Results: Our cohort included 139 patients with ALS and 70 non-ALS patients, with a mean age of 66.1 ± 11.4 years and 47.4% of women. The mean follow-up was 42 ± 26.3 months for patients with ALS and 141.6 ± 106.3 months for non-ALS patients, with a mortality rate of 85.5% vs 7.7%. There was a high correlation between all methods tested for serum NfL quantification (R 2 = 0.939 to 0.963). The area under the curve (AUC) for ALS diagnosis was 0.889 (0.827-0.932) for NfL Simoa, 0.906 (0.847-0.944) for Ella, 0.912 (0.853-0.948) for Lumipulse, and 0.910 (0.851-0.946) for Elecsys. Serum pTau181 and GFAP showed poor diagnostic performance with AUCs of 0.565 (0.472-0.649) and 0.546 (0.461-0.636), respectively. Kaplan-Meier survival analysis revealed significant hazard ratios (4.4-5.4) for blood NfL. Patients with ALS had a 40%-50% chance of surviving 50 weeks below the prognostic cutoff values while survival rates dropped to near zero above. NfL and GFAP levels were associated with age and body mass index, considered confounding factors. pTau181 levels varied significantly in patients with ALS depending on the site of onset., Discussion: This study demonstrates the consistent performance of 4 immunoassays for serum NfL quantification in ALS. NfL showed high diagnostic and prognostic accuracy, making it suitable for individual assessment, unlike GFAP or pTau181. We propose diagnostic and prognostic cutoff values for serum NfL, providing a basis for wider implementation, especially with the clinically accredited Lumipulse and Elecsys platforms, which are becoming standard practice., Classification of Evidence: This study provides Class II evidence that serum NfL levels are useful in identifying over 80% of patients with ALS and predicting survival in patients with ALS compared with pTau181 and GFAP levels.
Published: 2025
Full Text: View/download PDF

43. Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.

Author: Saez-Atienzar S, Souza CDS, Chia R, Beal SN, Lorenzini I, Huang R, Levy J, Burciu C, Ding J, Gibbs JR, Jones A, Dewan R, Pensato V, Peverelli S, Corrado L, van Vugt JJFA, van Rheenen W, Tunca C, Bayraktar E, Xia M, Iacoangeli A, Shatunov A, Tiloca C, Ticozzi N, Verde F, Mazzini L, Kenna K, Al Khleifat A, Opie-Martin S, Raggi F, Filosto M, Piccinelli SC, Padovani A, Gagliardi S, Inghilleri M, Ferlini A, Vasta R, Calvo A, Moglia C, Canosa A, Manera U, Grassano M, Mandrioli J, Mora G, Lunetta C, Tanel R, Trojsi F, Cardinali P, Gallone S, Brunetti M, Galimberti D, Serpente M, Fenoglio C, Scarpini E, Comi GP, Corti S, Del Bo R, Ceroni M, Pinter GL, Taroni F, Bella ED, Bersano E, Curtis CJ, Lee SH, Chung R, Patel H, Morrison KE, Cooper-Knock J, Shaw PJ, Breen G, Dobson RJB, Dalgard CL, Scholz SW, Al-Chalabi A, van den Berg LH, McLaughlin R, Hardiman O, Cereda C, Sorarù G, D'Alfonso S, Chandran S, Pal S, Ratti A, Gellera C, Johnson K, Doucet-O'Hare T, Pasternack N, Wang T, Nath A, Siciliano G, Silani V, Başak AN, Veldink JH, Camu W, Glass JD, Landers JE, Chiò A, Sattler R, Shaw CE, Ferraiuolo L, Fogh I, and Traynor BJ
Subjects: Humans, Genomics methods, Riluzole therapeutic use, Male, Female, Neuroprotective Agents therapeutic use, Neuroprotective Agents pharmacology, DNA Repeat Expansion genetics, C9orf72 Protein genetics, Amyotrophic Lateral Sclerosis genetics, Amyotrophic Lateral Sclerosis drug therapy, Drug Repositioning, Frontotemporal Dementia genetics, Frontotemporal Dementia drug therapy
Abstract: Repeat expansions in the C9orf72 gene are the most common genetic cause of (ALS) and frontotemporal dementia (FTD). Like other genetic forms of neurodegeneration, pinpointing the precise mechanism(s) by which this mutation leads to neuronal death remains elusive, and this lack of knowledge hampers the development of therapy for C9orf72-related disease. We used an agnostic approach based on genomic data (n = 41,273 ALS and healthy samples, and n = 1,516 C9orf72 carriers) to overcome these bottlenecks. Our drug-repurposing screen, based on gene- and expression-pattern matching and information about the genetic variants influencing onset age among C9orf72 carriers, identified acamprosate, a γ-aminobutyric acid analog, as a potentially repurposable treatment for patients carrying C9orf72 repeat expansions. We validated its neuroprotective effect in cell models and showed comparable efficacy to riluzole, the current standard of care. Our work highlights the potential value of genomics in repurposing drugs in situations where the underlying pathomechanisms are inherently complex. VIDEO ABSTRACT., Competing Interests: Declaration of interests B.J.T. holds patents on clinical testing and therapeutic intervention for the hexanucleotide repeat expansion of C9orf72., (Published by Elsevier Inc.)
Published: 2024
Full Text: View/download PDF

44. Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial.

Author: Koch JC, Leha A, Bidner H, Cordts I, Dorst J, Günther R, Zeller D, Braun N, Metelmann M, Corcia P, De La Cruz E, Weydt P, Meyer T, Großkreutz J, Soriani MH, Attarian S, Weishaupt JH, Weyen U, Kuttler J, Zurek G, Rogers ML, Feneberg E, Deschauer M, Neuwirth C, Wuu J, Ludolph AC, Schmidt J, Remane Y, Camu W, Friede T, Benatar M, Weber M, and Lingor P
Subjects: Humans, Middle Aged, Male, Double-Blind Method, Female, Aged, Adult, Treatment Outcome, Aged, 80 and over, Young Adult, Adolescent, 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine analogs & derivatives, 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine therapeutic use, 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine pharmacology, 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine adverse effects, Amyotrophic Lateral Sclerosis drug therapy, rho-Associated Kinases antagonists & inhibitors, Protein Kinase Inhibitors adverse effects, Protein Kinase Inhibitors therapeutic use, Protein Kinase Inhibitors administration & dosage
Abstract: Background: Fasudil is a small molecule inhibitor of Rho-associated kinase (ROCK) and is approved for the treatment of subarachnoid haemorrhage. In preclinical studies, fasudil has been shown to attenuate neurodegeneration, modulate neuroinflammation, and foster axonal regeneration. We aimed to investigate the safety, tolerability, and efficacy of fasudil in patients with amyotrophic lateral sclerosis., Methods: ROCK-ALS was a phase 2, randomised, double-blind, placebo-controlled trial conducted at 19 amyotrophic lateral sclerosis centres in Germany, France, and Switzerland. Individuals (aged 18-80 years) with at least probable amyotrophic lateral sclerosis (as per the revised El Escorial criteria), a disease duration of 6-24 months, and a slow vital capacity greater than 65% of predicted normal were eligible for inclusion. Patients were randomly assigned (1:1:1) to receive 30 mg (15 mg twice daily) or 60 mg (30 mg twice daily) fasudil or matched placebo intravenously for 20 days over a 4-week period. Follow-up assessments were performed at 45, 90, and 180 days after treatment initiation. The co-primary endpoints were safety until day 180 (defined as the proportion without drug-related serious adverse events) and tolerability during the treatment period (defined as the proportion who did not discontinue treatment due to suspected drug-related adverse events). The primary analyses were carried out in the intention-to-treat population, which included all participants who entered the treatment phase. This trial is registered at ClinicalTrials.gov (NCT03792490) and Eudra-CT (2017-003676-31) and is now completed., Findings: Between Feb 20, 2019, and April 20, 2022, 120 participants were enrolled and randomised; two individuals assigned fasudil 30 mg withdrew consent before the baseline visit. Thus, the intention-to-treat population comprised 35 in the fasudil 30 mg group, 39 in the fasudil 60 mg group, and 44 in the placebo group. The estimated proportion without a drug-related serious adverse event was 1·00 (95% CI 0·91 to 1·00) with placebo, 1·00 (0·89 to 1·00) with fasudil 30 mg, and 1·00 (0·90 to 1·00) with fasudil 60 mg; the difference in proportions was 0·00 (95% CI -0·11 to 0·10; p>0·99) for fasudil 30 mg versus placebo and 0·00 (-0·10 to 0·10; p>0·99) for fasudil 60 mg versus placebo. Treatment tolerability (the estimated proportion who did not discontinue) was 0·93 (95% CI 0·81 to 0·99) with placebo, 1·00 (0·90 to 1·00) with fasudil 30 mg, and 0·90 (0·76 to 0·97) with fasudil 60 mg; the difference in proportions was 0·07 (95% CI -0·05 to 0·20; p=0·25) for fasudil 30 mg versus placebo, and -0·03 (-0·18 to 0·10; p=0·70) for fasudil 60 mg versus placebo. Eight deaths occurred: two in the placebo group, four in the fasudil 30 mg group, and two in the fasudil 60 mg group. The most common serious adverse events were respiratory failure (seven events), gastrostomy (five events), pneumonia (four events), and dysphagia (four events). No serious adverse events or deaths were attributed to study treatment. Adverse events, which were mainly related to disease progression, occurred in 139 participants in the placebo group, 108 in the fasudil 30 mg group, and 105 in the fasudil 60 mg group., Interpretation: Fasudil was well tolerated and safe in people with amyotrophic lateral sclerosis. The effect of fasudil on efficacy outcomes should be explored in larger clinical trials with a longer treatment duration, oral administration, and potentially higher dose of the trial drug., Funding: Framework of the E-Rare Joint Transnational Call 2016 "Clinical research for new therapeutic uses of already existing molecules (repurposing) in rare diseases"., Competing Interests: Declaration of interests JCK reports a grant from the Deutsche Gesellschaft für Muskelkranke and consulting fees from AbbVie, Biogen, Ipsen, Roche, and Zambon. RG reports grants from the Deutsche Gesellschaft für Muskelkranke, Initiative SMA, and Bundesministerium für Bildung und Forschung, as well as consulting fees from Biogen, Roche, ITF Pharma, and Zambon. DZ has received consulting fees from Novartis and Angelini Pharma and has served on an advisory board for Biogen. NB has received compensations from Mitsubishi Tanabe Pharma. PC serves on the editorial advisory boards of ALS and The Revue Neurologique; reports consultancy work or participation on advisory boards for Amylyx, Biogen, Cytokinetics, Ferrer, Mitsubishi Tanabe Pharma, VectorY, and Zambon; serves on the drug safety monitoring board for Quralis, and has received a research grant from Biogen. EDLC has received travel grants from Biogen and EFFIK. PW reports grants from the Boris Canessa Foundation and the Bundesministerium für Bildung and Forschung; and has received consulting fees from ITF Pharma, Zambon, Novartis, Biogen, and Roche. TM reports institutional grants from Cytokinetics, Ferrer, AL-S Pharma, Sanofi, Amylyx, Mitsubishi Tanabe, and Apellis Pharmaceuticals, as well as personal fees from Biogen, Amylyx, and ITF Pharma; and is co-founder and shareholder of the Ambulanzpartner Soziotechnologie APST. JG has received personal fees from UCB, Alexion, Amylyx, Roche, and Zambon; and is a member of advisory boards of the European Network to Cure ALS, Neuroimaging Society in amyotrophic Lateral Sclerosis, EU ALS coalition, and the World Federation of Neurology Motoneuron Disease group. M-HS received compensations for consulting from Amylyx, Zambon, EFFIK-Italfarmaco, and SOS Oxygene. M-LR reports grants from FightMND, MND Research Australia and the US National Institutes of Health. CN has received fees for non-related services for Biogen, Mitsubishi Tanabe, Roche, and Argenx. JW reports grants from the US National Institutes of Health. JS has received payments for participation on advisory boards, talks, travel, and research projects from Abcuro, Alnylam, Argenx, Biotest, CSL Behring, Grifols, Johnson & Johnson, Kezar, LFB, Lupin, Momenta, Novartis, Octapharma, and UCB, all unrelated to the present study. TF has received personal fees from Actimed, Bayer, Bristol Myers Squibb, Cardior, CSLBehring, Daiichi Sankyo, Galapagos, Immunic, KyowaKirin, LivaNova, Minoryx, Novartis, RECARDIO, Relaxera, Roche, Servier, Viatris, Vifor, Fresenius Kabi, PINK gegen Brustkrebs, Aslan, BionsenseWebster, Enanta, VICO Therapeutics, Pharmaceutical Product Development, and IQVIA, as well as institutional grants from Deutsche Forschungsgemeinschaft, Gemeinsamer Bundesausschuss, and the European Commission. MB reports grants from the US National Institutes of Health, the Muscular Dystrophy Association, and the ALS Association; as well as consulting fees for Alector, Alexion, Annexon, Arrowhead, Biogen, Cartesian, Denali, Eli Lilly, Horizon, Immunovant, Novartis, Roche, Sanofi, Takeda, UCB, and uniQure; the University of Miami has licensed intellectual property to Biogen to support the design of the ATLAS trial (NCT04856982), for which MB is academic lead. PL reports grants from the Bundesministerium für Bildung und Forschung and the Deutsche Forschungsgemeinschaft; consulting fees from AbbVie, Amylyx, Bial, Desitin, ITF Pharma, Novartis, Stadapharm, Raya Therapeutic, Woolsey Pharmaceuticals, and Zambon; and is co-inventor on a patent for the use of fasudil in amyotrophic lateral sclerosis (EP 2825175 B1, US 9.980,972 B2). All other authors declare no competing interests., (Copyright © 2024 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY-NC 4.0 license. Published by Elsevier Ltd.. All rights reserved.)
Published: 2024
Full Text: View/download PDF

45. Cramp-Fasciculation Syndrome Associated with Natural and Added Chemicals in Popular Food Items.

Author: Lagrange E, Vernoux JP, Chambon C, Camu W, and Spencer PS
Abstract: Cramp-fasciculation syndrome (CFS) is a rare and benign neuromuscular disorder that may initially masquerade as motor neuron disease/amyotrophic lateral sclerosis. While CFS may have a familial disposition, we report on cases associated with high consumption of popular food items. One set of patients reversibly experienced acute onset of headache, flushing, muscle stiffness and fasciculations following the consumption of umami-flavored food containing a large concentration of monosodium glutamate. A second group of patients consuming food derived from lupin seed developed acute cholinergic toxicity, CFS, and, with chronic intake, significant, self-limiting, but incompletely reversible upper and lower motor neuron deficits. While these cases may improve our knowledge about the possible causes of CFS, our series also demonstrates that excessive consumption of some popular foods is not harmless. This warrants further research on their safety at all stages of human development from a neurological point of view.
Published: 2024
Full Text: View/download PDF

46. Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.

Author: Opie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N, Spargo TP, Al-Khleifat A, Williams KL, Jockel-Balsarotti J, Bali T, Self W, Henden L, Nicholson GA, Ticozzi N, McKenna-Yasek D, Tang L, Shaw PJ, Chio A, Ludolph A, Weishaupt JH, Landers JE, Glass JD, Mora JS, Robberecht W, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, and Shaw CE
Published: 2024
Full Text: View/download PDF

47. Safety and efficacy of arimoclomol in patients with early amyotrophic lateral sclerosis (ORARIALS-01): a randomised, double-blind, placebo-controlled, multicentre, phase 3 trial.

Author: Benatar M, Hansen T, Rom D, Geist MA, Blaettler T, Camu W, Kuzma-Kozakiewicz M, van den Berg LH, Morales RJ, Chio A, Andersen PM, Pradat PF, Lange D, Van Damme P, Mora G, Grudniak M, Elliott M, Petri S, Olney N, Ladha S, Goyal NA, Meyer T, Hanna MG, Quinn C, Genge A, Zinman L, Jabari D, Shoesmith C, Ludolph AC, Neuwirth C, Nations S, Shefner JM, Turner MR, Wuu J, Bennett R, Dang H, and Sundgreen C
Subjects: Humans, Male, Female, Double-Blind Method, Middle Aged, Aged, Treatment Outcome, Adult, Hydroxylamines therapeutic use, Hydroxylamines adverse effects, Hydroxylamines pharmacology, Oxadiazoles therapeutic use, Oxadiazoles adverse effects, Amyotrophic Lateral Sclerosis drug therapy, Neuroprotective Agents therapeutic use, Neuroprotective Agents adverse effects
Abstract: Background: Amyotrophic lateral sclerosis is a progressive neurodegenerative disorder leading to muscle weakness and respiratory failure. Arimoclomol, a heat-shock protein-70 (HSP70) co-inducer, is neuroprotective in animal models of amyotrophic lateral sclerosis, with multiple mechanisms of action, including clearance of protein aggregates, a pathological hallmark of sporadic and familial amyotrophic lateral sclerosis. We aimed to evaluate the safety and efficacy of arimoclomol in patients with amyotrophic lateral sclerosis., Methods: ORARIALS-01 was a multinational, randomised, double-blind, placebo-controlled, parallel-group trial done at 29 centres in 12 countries in Europe and North America. Patients were eligible if they were aged 18 years or older and met El Escorial criteria for clinically possible, probable, probable laboratory-supported, definite, or familial amyotrophic lateral sclerosis; had an ALS Functional Rating Scale-Revised score of 35 or more; and had slow vital capacity at 70% or more of the value predicted on the basis of the participant's age, height, and sex. Patients were randomly assigned (2:1) in blocks of 6, stratified by use of a stable dose of riluzole or no riluzole use, to receive oral arimoclomol citrate 1200 mg/day (400 mg three times per day) or placebo. The Randomisation sequence was computer generated centrally. Investigators, study personnel, and study participants were masked to treatment allocation. The primary outcome was the Combined Assessment of Function and Survival (CAFS) rank score over 76 weeks of treatment. The primary outcome and safety were analysed in the modified intention-to-treat population. This trial is registered with ClinicalTrials.gov, NCT03491462, and is completed., Findings: Between July 31, 2018, and July 17, 2019, 287 patients were screened, 245 of whom were enrolled in the trial and randomly assigned. The modified intention-to-treat population comprised 239 patients (160 in the arimoclomol group and 79 in the placebo group): 151 (63%) were male and 88 (37%) were female; mean age was 57·6 years (SD 10·9). CAFS score over 76 weeks did not differ between groups (mean 0·51 [SD 0·29] in the arimoclomol group vs 0·49 [0·28] in the placebo group; p=0·62). Cliff's delta comparing the two groups was 0·039 (95% CI -0·116 to 0·194). Proportions of participants who died were similar between the treatment groups: 29 (18%) of 160 patients in the arimoclomol group and 18 (23%) of 79 patients in the placebo group. Most deaths were due to disease progression. The most common adverse events were gastrointestinal. Adverse events were more often deemed treatment-related in the arimoclomol group (104 [65%]) than in the placebo group (41 [52%]) and more often led to treatment discontinuation in the arimoclomol group (26 [16%]) than in the placebo group (four [5%])., Interpretation: Arimoclomol did not improve efficacy outcomes compared with placebo. Although available biomarker data are insufficient to preclude future strategies that target the HSP response, safety data suggest that a higher dose of arimoclomol would not have been tolerated., Funding: Orphazyme., Competing Interests: Declaration of interests MB reports grants from the National Institutes of Health, the Muscular Dystrophy Association, and the ALS Association; as well as consulting fees from Alector, Alexion, Annexon, Arrowhead, Biogen, Cartesian, Denali, Eli Lilly, Horizon, Immunovant, Novartis, Roche, Sanofi, Takeda, UCB, and UniQure. The University of Miami licensed some of MB's research data to Biogen to aid in the design of the ATLAS trial; MB receives a royalty payment received by the University of Miami as part of this licensing agreement. DR received consulting fees from Orphazyme for biostatistical consulting services for the ORARIALS-01 protocol. LHvdB reports consulting fees from Amylyx, Biogen, Ferrer, Corcept, Orion, and Orphazyme, as well as payment for scientific advisory board activities from Takeda. AC reports grants from the Italian Ministry of Health, the Italian Ministry of University and Research, the European Commission, Biogen, and the ALS Association; as well as consulting fees from Mitsubishi Tanabe, Biogen, Roche, Sanofi, Denali Pharma, Cytokinetics, Eli Lilly, and Amylyx Pharmaceuticals; he has received a research grant from Biogen. PMA report grants from the Swedish Research Council, the Knut and Alice Wallenberg Foundation, the Ulla-Carin Lindquist Foundation, NEURO, the Brain Foundation, and the European Commission; as well as consulting fees from Biogen, Avrion, Arrowhead, Regeneron, uniQure, Orphazyme, and Roche. P-FP reports meeting and travel support from Orphazyme. PVD reports grant from CSL Behring; speakers fees from Biogen and Amylyx; and participation in advisory boards for Biogen, CSL Behring, Alexion Pharmaceuticals, Ferrer, QurAlis, Cytokinetics, Argenx, UCB, Muna Therapeutics, Alector, Augustine Therapeutics, and VectorY. SP reports grants from Cytokinetics, Biogen, and Roche; consulting fees from Cytokinetics, Amylyx, Biogen, Roche, and Zambon; payment or honoraria from Biogen, Zambon, Roche, Amylyx, Italfarmaco, and Desitin; meeting and travel support from Biogen, Desitin, Zambon, Amylyx, Italfarmaco, PTC Therapeutics, and Ferrer; and participation in data safety monitoring boards or advisory boards for ORION Pharma, Amylyx, Biogen, Roche, and Zambon. SL reports consulting fees from Biogen and Amylyx; and participation in a data safety monitoring board (chair) for Neurosense Therapeutics. NAG reports grants from Abcuro, Amylyx, Alexion, Annelixis, Annexon, Brainstorm Cell Therapeutics, Calico, Cytokinetics, Fulcrum, Healey, Janssen, Kezar, Medicinova, MT Pharma, Octapharma, PTC, Sanofi, and Transposon; consulting fees from Abcuro, Alexion, Amylyx, Annexon, Argenx, Astrazeneca, CSL Behring, Fulcrum, Kezar, MT Pharma, Sanofi Genzyme, Sarepta, and UCB; and speakers fees from Argenx and CSL. CQ reports grants from Sanofi, Biogen, and Amylyx; consultant fees from Amylyx and Biogen; and honoraria from Seattle Science Foundation. AG reports consulting fees from Medtronic, Atlantic Research Group, Calico, Apellis, Anexon, ALS Pharmaceuticals, QurAlis, Orion, Sanofi Genzyme, Ionis, Wave Life Therapies, Anelixis, Roche, Cytokinetics, Mitsubishi Tanabe Pharma, Amylyx, Alexion, UCB, Ra Pharmaceuticals (now UCB Biosciences), Biogen, Eli Lilly, and Amicus Therapeutics; support for attending meetings and travel from Amylyx, Mitsubishi Tanabe Pharma, QurAlis, Alexion, and ALS Pharmaceuticals; has a leadership role in ALS Canada; has stock or stock options in QurAlis; and has received equipment, materials, drugs, medical writing, gifts or other services from Amylyx. LZ reports grants from ALS Canada, Amylyx, Biogen, and Mitsubishi Tanabe Pharma; consulting fees from Amylyx, Cytokinetics, Mitsubishi Tanabe Pharma, Neurosense, and Biogen; and participation in a data safety monitoring board (chair) for Amylyx. CS reports speakers fees from Mitsubishi Tanabe Pharma Canada; participation in an advisory board for Biogen; and unpaid roles in Canadian ALS Research Consortium and Scientific Medical Advisory Board for ALS Canada. CN received compensation for consultant fees and training activities by Biogen, Roche, Genzyme, and Mitsubishi Tanabe. JMS reports grants from NINDS, ALS Association, AB Sciences, Acorda Therapeutics, Alector, Amylyx, Biogen, Cytokinetics Incorporated, Ionis, Mitsubishi Tanabe Pharma America, Quralis, PTC, Sanofi, Wave, and Myolex; consulting fees from Amylyx, Cytokinetics, Denali, GSK, Mitsubishi Tanabe Pharma America, Neurosense, Orthogonal, Pinteon, RRD, Acurastem, Revalasio, Apellis, Novartis, Sanofi, and Immunity Pharma; participation in data safety monitoring boards or advisory boards for Swanbio and Braingate; and stock or stock options in Aural Analytics. MRT reports salary support from the Motor Neurone Disease Association; royalties or licences from Oxford University Press, Oneworld, and Karger; speakers' honoraria from University of Miami; and participation in advisory board for Biogen and Novartis. JW reports grants from the National Institutes of Health, the Muscular Dystrophy Association, and the ALS Association. TH, MAG, TB, RB, HD, and CS are previous employees of Orphazyme. MK-K reports research support from the JPND by the National Center for Research and Development, and from E-Rare by the National Science Center of Poland. MK-K also reports paid consulting fees from Amylyx, Ferrer, and Cytokinetics. All other authors declare no competing interests., (Copyright © 2024 Elsevier Ltd. All rights reserved, including those for text and data mining, AI training, and similar technologies.)
Published: 2024
Full Text: View/download PDF

48. Pharmacometabolomics applied to low-dose interleukin-2 treatment in amyotrophic lateral sclerosis.

Author: Alarcan H, Bruno C, Emond P, Raoul C, Vourc'h P, Corcia P, Camu W, Veyrune JL, Garlanda C, Locati M, Juntas-Morales R, Saker S, Suehs C, Masseguin C, Kirby J, Shaw P, Malaspina A, De Vos J, Al-Chalabi A, Leigh PN, Tree T, Bensimon G, and Blasco H
Subjects: Humans, Male, Middle Aged, Female, Kynurenine metabolism, Aged, Metabolome drug effects, Amyotrophic Lateral Sclerosis drug therapy, Amyotrophic Lateral Sclerosis metabolism, Interleukin-2 administration & dosage, Interleukin-2 metabolism, Metabolomics methods, T-Lymphocytes, Regulatory metabolism, T-Lymphocytes, Regulatory drug effects, T-Lymphocytes, Regulatory immunology
Abstract: Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease. The immunosuppressive functions of regulatory T lymphocytes (Tregs) are impaired in ALS, and correlate to disease progression. The phase 2a IMODALS trial reported an increase in Treg number in ALS patients following the administration of low-dose (ld) interleukin-2 (IL-2). We propose a pharmacometabolomics approach to decipher metabolic modifications occurring in patients treated with ld-IL-2 and its relationship with Treg response. Blood metabolomic profiles were determined on days D1, D64, and D85 from patients receiving 2 MIU of IL-2 (n = 12) and patients receiving a placebo (n = 12). We discriminated the three time points for the treatment group (average error rate of 42%). Among the important metabolites, kynurenine increased between D1 and D64, followed by a reduction at D85. The percentage increase of Treg number from D1 to D64, as predicted by the metabolome at D1, was highly correlated with the observed value. This study provided a proof of concept for metabolic characterization of the effect of ld-IL-2 in ALS. These data could present advances toward a personalized medicine approach and present pharmacometabolomics as a key tool to complement genomic and transcriptional data for drug characterization, leading to systems pharmacology., (© 2024 The Authors. Annals of the New York Academy of Sciences published by Wiley Periodicals LLC on behalf of The New York Academy of Sciences.)
Published: 2024
Full Text: View/download PDF

49. Corrected speciation and gyromitrin content of false morels linked to ALS patients with mostly slow-acetylator phenotypes.

Author: Lagrange E, Loriot MA, Chaudhary NK, Schultz P, Dirks AC, Guissart C, James TY, Vernoux JP, Camu W, Tripathi A, and Spencer PS
Abstract: A case-control study of sporadic amyotrophic lateral sclerosis (ALS) in a mountainous village in the French Alps discovered an association of cases with a history of eating wild fungi (false morels) collected locally and initially identified and erroneously reported as Gyromitra gigas . Specialist re-examination of dried specimens of the ALS-associated fungi demonstrated they were members of the G. esculenta group, namely G. venenata and G. esculenta , species that have been reported to contain substantially higher concentrations of gyromitrin than present in G. gigas . Gyromitrin is metabolized to monomethylhydrazine, which is responsible not only for the acute oral toxic and neurotoxic properties of false morels but also has genotoxic potential with proposed mechanistic relevance to the etiology of neurodegenerative disease. Most ALS patients had a slow- or intermediate-acetylator phenotype predicted by N - acetyltransferase-2 ( NAT2 ) genotyping, which would increase the risk for neurotoxic and genotoxic effects of gyromitrin metabolites., Competing Interests: None., (© 2024 The Authors. Published by Elsevier B.V.)
Published: 2024
Full Text: View/download PDF

50. The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering.

Author: Ceprian M, Juntas-Morales R, Campbell G, Walther-Louvier U, Rivier F, Camu W, Esselin F, Echaniz-Laguna A, Stojkovic T, Bouhour F, Latour P, and Tricaud N
Subjects: Adolescent, Adult, Child, Female, Humans, Male, Middle Aged, Young Adult, 5' Untranslated Regions genetics, HEK293 Cells, Mutation, Protein Binding, Calcium metabolism, Charcot-Marie-Tooth Disease genetics, Charcot-Marie-Tooth Disease metabolism, Hexokinase genetics, Hexokinase metabolism, Mitochondria metabolism, Mitochondria genetics, Voltage-Dependent Anion Channel 1 metabolism, Voltage-Dependent Anion Channel 1 genetics
Abstract: Demyelinating Charcot-Marie-Tooth 4G (CMT4G) results from a recessive mutation in the 5'UTR region of the Hexokinase 1 (HK1) gene. HK participates in mitochondrial calcium homeostasis by binding to the Voltage-Dependent Anion Channel (VDAC), through its N-terminal porin-binding domain. Our hypothesis is that CMT4G mutation results in a broken interaction between mutant HK1 and VDAC, disturbing mitochondrial calcium homeostasis. We studied a cohort of 25 CMT4G patients recruited in the French gypsy population. The disease was characterized by a childhood onset, an intermediate demyelinating pattern, and a significant phenotype leading to becoming wheelchair-bound by the fifth decade of life. Co-IP and PLA studies indicated a strong decreased interaction between VDAC and HK1 in the patients' PBMCs and sural nerve. We observed that either wild-type HK1 expression or a peptide comprising the 15 aa of the N-terminal wild-type HK1 administration decreased mitochondrial calcium release in HEK293 cells. However, mutated CMT4G HK1 or the 15 aa of the mutated HK1 was unable to block mitochondrial calcium release. Taken together, these data show that the CMT4G-induced modification of the HK1 N-terminus disrupts HK1-VDAC interaction. This alters mitochondrial calcium buffering that has been shown to be critical for myelin sheath maintenance.
Published: 2024
Full Text: View/download PDF

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Topic

Publication Year Range

Language

Publication Type

Journal

Region

Database

Publisher

239 results on '"W. Camu"'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources