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52. Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

Author

Coutelier, M. Hammer, M.B. Stevanin, G. Monin, M.-L. Davoine, C.-S. Mochel, F. Labauge, P. Ewenczyk, C. Ding, J. Gibbs, J.R. Hannequin, D. Melki, J. Toutain, A. Laugel, V. Forlani, S. Charles, P. Broussolle, E. Thobois, S. Afenjar, A. Anheim, M. Calvas, P. Castelnovo, G. De Broucker, T. Vidailhet, M. Moulignier, A. Ghnassia, R.T. Tallaksen, C. Mignot, C. Goizet, C. Le Ber, I. Ollagnon-Roman, E. Pouget, J. Brice, A. Singleton, A. Durr, A. Belarabi, S. Hamri, A. Tazir, M. Boesch, S. Pandolfo, M. Ullmann, U. Jardim, L. Guergueltcheva, V. Tournev, I. Soong, B.-W. Linarès, O.L.P. Nielsen, J.E. Svenstrup, K. Zaki, M. Azulay, J.-P. Banneau, G. Boesfplug-Tanguy, O. Burgo, A. Cazeneuve, C. Darios, F. Depienne, C. Duyckaerts, C. Fontaine, B. Hazan, J. Koenig, M. Marelli, C. N'guyen, K. Rodriguez, D. Sittler, A. Verny, C. Bauer, P. Schöls, L. Schüle, R. Koutsis, G. Lossos, A. Antenora, A. Bassi, M.T. Basso, M. Bertini, E. Brusco, A. Casali, C. Casari, G. Criscuolo, C. Filla, A. Lieto, M. Orsi, L. Santorelli, F.M. Valente, E.M. Vavla, M. Vazza, G. Megarbane, A. Benomar, A. Roxburgh, R. Erichsen, A.K. Alonso, I. Coutinho, P. Loureiro, J.L. Sequeiros, J. Salih, M. Kostic, V.S. Axpe, I.R. Roumani, S. Kremer, B. Van Roon-Mom, W. Boukhris, A. Mhiri, C. Karabay, A. Nethisinghe, S. Okane, C. Oliva, M. Reid, E. Warner, T. Wood, N. Spastic Paraplegia Ataxia Network

Abstract

IMPORTANCE Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arrays do not allow investigators to reach a genetic conclusion. OBJECTIVES To assess the efficacy of exome-targeted capture sequencing to detect mutations in genes broadly linked to CA in a large cohort of undiagnosed patients and to investigate their prevalence. DESIGN, SETTING, AND PARTICIPANTS Three hundred nineteen index patients with CA and without a history of dominant transmission were included in the this cohort study by the Spastic Paraplegia and Ataxia Network. Centralized storage was in the DNA and cell bank of the Brain and Spine Institute, Salpetriere Hospital, Paris, France. Patients were classified into 6 clinical groups, with the largest being those with spastic ataxia (ie, CA with pyramidal signs [n = 100]). Sequencing was performed from January 1, 2014, through December 31, 2016. Detected variants were classified as very probably or definitely causative, possibly causative, or of unknown significance based on genetic evidence and genotype-phenotype considerations. MAIN OUTCOMES AND MEASURES Identification of variants in genes broadly linked to CA, classified in pathogenicity groups. RESULTS The 319 included patients had equal sex distribution (160 female [50.2%] and 159 male patients [49.8%]; mean [SD] age at onset, 27.9 [18.6] years). The age at onset was younger than 25 years for 131 of 298 patients (44.0%) with complete clinical information. Consanguinity was present in 101 of 298 (33.9%). Very probable or definite diagnoses were achieved for 72 patients (22.6%), with an additional 19 (6.0%) harboring possibly pathogenic variants. The most frequently mutated genes were SPG7 (n = 14), SACS (n = 8), SETX (n = 7), SYNE1 (n = 6), and CACNA1A (n = 6). The highest diagnostic rate was obtained for patients with an autosomal recessive CA with oculomotor apraxia-like phenotype (6 of 17 [35.3%]) or spastic ataxia (35 of 100 [35.0%]) and patients with onset before 25 years of age (41 of 131 [31.3%]). Peculiar phenotypes were reported for patients carrying KCND3 or ERCC5 variants. CONCLUSIONS AND RELEVANCE Exome capture followed by targeted analysis allows the molecular diagnosis in patients with highly heterogeneous mendelian disorders, such as CA, without prior assumption of the inheritance mode or causative gene. Being commonly available without specific design need, this procedure allows testing of a broader range of genes, consequently describing less classic phenotype-genotype correlations, and post hoc reanalysis of data as new genes are implicated in the disease. © 2018 American Medical Association. All rights reserved.

Published
2018

53. Microstructural changes in white and grey matter related to apathy, depression and anxiety in de novo Parkinson's disease patients

Author

Prange, S., primary, Metereau, E., additional, Maillet, A., additional, Lhommée, E., additional, Klinger, H., additional, Pellissier, P., additional, Ibarrola, D., additional, Heckemann, R.A., additional, Broussolle, E., additional, Castrioto, A., additional, Tremblay, L., additional, Sgambato, V., additional, Krack, P., additional, and Thobois, S., additional

Published
2019
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56. Rotigotine transdermal system for long-term treatment of patients with advanced Parkinson’s disease: results of two open-label extension studies, CLEOPATRA-PD and PREFER

Author

Lewitt, P, Boroojerdi, B, Surmann, E, Poewe, W, Calabrese, V, Cleeremans, B, Curran, T, Chang, F, Dewey, R, Elmer, L, Higgins, D, Gazda, S, Glyman, S, Golbe, L, Grimes, D, Kostyk, S, Jankovic, J, Jennings, D, Taber, L, Kishner, R, Singer, C, Leopold, N, Margolin, D, Martin, W, Camicioli, R, Murphy, J, Panisset, M, Truong, D, Patton, J, Petzinger, G, Lew, M, Racette, B, Rajput, A, Rao, J, Scott, B, Singer, R, Samanta, J, Suchowersky, O, Tarsy, D, Waters, C, Evatt, M, Wendt, J, Pahwa, R, Siegel, K, Banas, T, Nausieda, P, Hull, K, Hull, R, Chumley, W, Cohen, S, Brew, B, Crimmins, D, Fung, V, Hayes, M, Thyagarajan, D, Brinar, V, Demarin, V, Bar, M, Ehler, E, Polivka, J, Rektor, I, Ruzicka, E, Svatova, J, Broussolle, E, Destee, A, Viallet, F, Jolma, T, Myllyla, V, Kronenbuerger, M, Mueller, T, Rózsa, C, Pal, E, Takacs, A, Valikovics, A, Djaldetti, R, Giladi, N, Anderson, T, Mossman, S, Snow, B, Aasly, J, Hestnes, A, Larsen, J, Tysnes, O, Chmielewska, B, Kotowicz, J, Nyka, W, Pruchnik Wolinska, D, Szczudlik, A, Tutaj, A, Badenhorst, F, Carr, J, Fine, J, Guldenphennig, W, Kies, B, Smuts, J, Hallström, Y, Barone, P, Battistin, U, Bonucceli, L, Pezzoli, G, Ruggieri, S, Stanzione, P, Aguilar, M, Balaguer, M, Francesc, E, Grandas, F, Kulisevsky, J, Linazasoro, G, Tolosa, E, Boothman, B, Grosset, D, and Sagar, H

Subjects
Male, Time Factors, Parkinson's disease, Severity of Illness Index, law.invention, Randomized controlled trial, law, Outcome Assessment, Health Care, Activities of Daily Living, 80 and over, Medicine, Open-label, Longitudinal Studies, Rotigotine transdermal system, Aged, 80 and over, Administration, Cutaneous, Double-Blind Method, Humans, Aged, Outcome Assessment (Health Care), Thiophenes, Dopamine Agonists, Parkinson Disease, Adult, Tetrahydronaphthalenes, Middle Aged, Female, Clinical trial, Psychiatry and Mental health, Neurology, Tolerability, Administration, Settore MED/26 - Neurologia, medicine.symptom, Somnolence, medicine.drug, medicine.medical_specialty, Clinical Neurology, Neurology and Preclinical Neurological Studies - Original Article, rotigotine, Parkinson´s disease, cleopatra-pd study, prefer study, Internal medicine, Severity of illness, Adverse effect, Biological Psychiatry, business.industry, Rotigotine, medicine.disease, Cutaneous, Parkinson’s disease, Physical therapy, Neurology (clinical), business
Abstract

Open-label extensions [studies SP516 (NCT00501969) and SP715 (NCT00594386)] of the CLEOPATRA-PD and PREFER studies were conducted to evaluate the safety, tolerability and efficacy of the dopaminergic agonist, rotigotine, over several years of follow-up in patients with advanced Parkinson’s disease (PD). Eligible subjects completing the double-blind trials received open-label adjunctive rotigotine (≤16 mg/24 h) for up to 4 and 6 years in Studies SP516 and SP715, respectively. Safety and tolerability were assessed using adverse events, vital signs and laboratory parameters, and efficacy assessed using the unified Parkinson’s disease rating scale (UPDRS). Of the 395 and 258 patients enrolled in the SP516 and SP715 studies, 48 and 45 % completed, respectively. Adverse events were typically dopaminergic effects [e.g., somnolence (18–25 %/patient-year), insomnia (5–7 %/patient-year), dyskinesias (4–8 %/patient-year) and hallucinations (4–8 %/patient-year)], or related to the transdermal application of a patch (application site reactions: 14–15 %/patient-year). There were no clinically relevant changes in vital signs or laboratory parameters in either study. Mean UPDRS part II (activities of daily living) and part III (motor function) total scores improved from double-blind baseline during dose titration, then gradually declined over the maintenance period. In study SP516, mean UPDRS part II and III total scores were 0.8 points above and 2.8 points below double-blind baseline, respectively, at end of treatment. In study SP715, mean UPDRS part II and III total scores were 4.1 points above and 0.2 points below baseline, respectively, at end of treatment. In these open-label studies, adjunctive rotigotine was efficacious with an acceptable safety and tolerability profile in patients with advanced PD for up to 6 years.

Published
2012
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57. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

Author

Healy, Daniel G., Mario, Falchi, O'Sullivan, Sean S., Bonifati, Vincenzo, Alexandra, Durr, Susan, Bressman, Alexis, Brice, Jan, Aasly, Zabetian, Cyrus P., Stefano, Goldwurm, Ferreira, Joaquim J., Eduardo, Tolosa, Kay, Denise M., Christine, Klein, Williams, David R., Connie, Marras, Lang, Anthony E., Wszolek, Zbigniew K., Jose, Berciano, Schapira, Anthony H. V., Timothy, Lynch, Bhatia, Kailash P., Thomas, Gasser, Lees, Andrew J., Wood, Nicholas W., International Lrrk Consortium, Collaborators, Tazir, M., Ysmail Dahlouk, F., Belarbi, S., Hecham, N., Barbosa, E., Chien, H. F., Rieder, C. R., Jardim, L. B., Rogaeva, E., Lesage, S., Lohmann, E., Vidailhet, M., Bonnet, A. M., Agid, Y., Pollak, P., Tison, F., Durif, F., Broussolle, E., Berg, D., Hagenah, J., Gosal, D., Gibson, M., Vanacore, Nicola, Berardelli, Alfredo, Fabbrini, Giovanni, Fabrizio, E., Meco, Giuseppe, Stocchi, F., Dalla Libera, A., De Mari, M., Lamberti, P., Cossu, G., Pezzoli, G., Zini, M., Tesei, S., Zecchinelli, A., Sironi, F., Antonini, A., Mariani, C., Sacilotto, G., Meucci, N., Canesi, M., Di Fonzo, A., Oostra, B., Correia Guedes, L., Rosa, Mm, Coelho, M., Sampaio, C., Gaig, C., C. S., Lu, Wu Chou, Y. H., Quinn, N. P., Abou Sleiman, P. M., Muqit, M. M., Khan, N. L., Gandhi, S., Vaughan, J., Payami, H., Nutt, J. J., Factor, S. A., Higgins, D. S., Farrer, M. J., Hulihan, M., Brown, L., Mata, I. F., Samii, A., Yearout, D., Griffith, A., Leis, B. C., Roberts, J. W., Clinical Genetics, Department of Clinical Neurosciences, University College of London [London] (UCL)-Institute of Neurology, Genomic Medicine, Imperial College London-Kings College, Reta Lila Weston Institute for Neurological Studies, Queen Mary University of London (QMUL), Department of Clinical Genetics (DCG), Erasmus University Medical Centre, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Neurology, Beth Israel Medical Centre- Albert Einstein College of Medicine [New York], St. Olav's Hospital, University of Washington [Seattle], Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Parkinson Institute, Istituti Clinici di Perfezionamento, Neurological Clinic Research Unit, Institute of Molecular Medicine-Lisbon School of Medicine, Neurology Service, Institut Clinic Maltias del Sistema Nervios-Hospital Clinic Universitari-University of Barcelona, Division of Genetic Disorders, New York State Department of Health [Albany], University of Luebeck, Faculty of Medicine (Neurosciences), Monash University [Clayton], University of Toronto, Mayo Clinic Jacksonville, Service of Neurology, Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III [Madrid] (ISC)-Instituto de Salud Carlos III [Madrid] (ISC), Mater Misericordiae University Hospital (The Mater Hospital), Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Department of Neurodegenerative Diseases, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen-Hertie-Institut for Clinical Brain Research, Department of Molecular Pathogenesis, UK Medical Research Council, UK Parkinson's Disease Society, UK Brain Research Trust, Internationaal Parkinson Fonds, Volkswagen Foundation, National Institutes of Health: National Institute of Neurological Disorders and Stroke and National Institute of Aging, Udall Parkinson's Disease Centre of Excellence, Pacific Alzheimer Research Foundation Centre, Italian Telethon Foundation, Fondazione Grigioni per il Morbo di Parkinson, Michael J Fox Foundation for Parkinson's Research, Safra Global Genetics Consortium, US Department of Veterans Affairs, French Agence Nationale de la Recherche., ANR-05-NEUR-0019,LRRK2 in PD,Pathologie moléculaire et modèles murins du gène LRRK2, impliqué dans la maladie de Parkinson(2005), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Beth Israel Medical Centre- Albert Einstein College of Medicine, CIBER de Enfermedades Neurodegenerativas (CIBERNED), Mater Misericordiae University Hospital, Eberhard Karls Universität Tübingen-Hertie-Institut for Clinical Brain Research, ANR-05-NEURO-019,ANR-05-NEURO-019, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

Subjects
Gerontology, Male, Risk, Pediatrics, medicine.medical_specialty, Parkinson's disease, Genotype, International Cooperation, DNA Mutational Analysis, Glycine, Clinical Neurology, Penetrance, Disease, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, medicine, Serine, Humans, Genetic Predisposition to Disease, Genetic Testing, Age of Onset, 030304 developmental biology, Genetic testing, Family Health, 0303 health sciences, medicine.diagnostic_test, business.industry, Case-control study, Age Factors, Parkinson Disease, medicine.disease, LRRK2, 3. Good health, nervous system diseases, Dyskinesia, Case-Control Studies, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Neurology (clinical), genetics, parkinson, Age of onset, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Summary Background Mutations in LRRK2 , the gene that encodes leucine-rich repeat kinase 2, are a cause of Parkinson's disease (PD). The International LRRK2 Consortium was established to answer three key clinical questions: can LRRK2 -associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2 ? Methods Researchers from 21 centres across the world collaborated on this study. The frequency of the common LRRK2 Gly2019Ser mutation was estimated on the basis of data from 24 populations worldwide, and the penetrance of the mutation was defined in 1045 people with mutations in LRRK2 from 133 families. The LRRK2 phenotype was defined on the basis of 59 motor and non-motor symptoms in 356 patients with LRRK2 -associated PD and compared with the symptoms of 543 patients with pathologically proven idiopathic PD. Findings Six mutations met the consortium's criteria for being proven pathogenic. The frequency of the common LRRK2 Gly2019Ser mutation was 1% of patients with sporadic PD and 4% of patients with hereditary PD; the frequency was highest in the middle east and higher in southern Europe than in northern Europe. The risk of PD for a person who inherits the LRRK2 Gly2019Ser mutation was 28% at age 59 years, 51% at 69 years, and 74% at 79 years. The motor symptoms (eg, disease severity, rate of progression, occurrence of falls, and dyskinesia) and non-motor symptoms (eg, cognition and olfaction) of LRRK2 -associated PD were more benign than those of idiopathic PD. Interpretation Mutations in LRRK2 are a clinically relevant cause of PD that merit testing in patients with hereditary PD and in subgroups of patients with PD. However, this knowledge should be applied with caution in the diagnosis and counselling of patients. Funding UK Medical Research Council; UK Parkinson's Disease Society; UK Brain Research Trust; Internationaal Parkinson Fonds; Volkswagen Foundation; National Institutes of Health: National Institute of Neurological Disorders and Stroke and National Institute of Aging; Udall Parkinson's Disease Centre of Excellence; Pacific Alzheimer Research Foundation Centre; Italian Telethon Foundation; Fondazione Grigioni per il Morbo di Parkinson; Michael J Fox Foundation for Parkinson's Research; Safra Global Genetics Consortium; US Department of Veterans Affairs; French Agence Nationale de la Recherche.

Published
2008
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60. On-line motor control in patients with Parkinson's disease

Author

Desmurget, M., Gaveau, V., Vindras, P., Turner, R. S., Broussolle, E., Thobois, S., Desmurget, M., Gaveau, V., Vindras, P., Turner, R. S., Broussolle, E., and Thobois, S.

Abstract

Recent models based, in part on a study of Huntington's disease, suggest that the basal ganglia are involved in on-line movement guidance. Two experiments were conducted to investigate this idea. First, we studied advanced Parkinson's disease patients performing a reaching task known to depend on on-line guidance. The task was to ‘look and point' in the dark at visual targets displayed in the peripheral visual field. In some trials, the target location was slightly modified during saccadic gaze displacement (when vision is suppressed). In both patient and control groups, the target jump induced a gradual modification of the movement which diverged smoothly from its original path to reach the new target location. No deficit was found in the patients, except for an increased latency to respond to the target jump (Parkinson's disease: 243 ms; controls: 166 ms). A computational simulation indicated that this response slowing was likely to be a by-product of bradykinesia. The unexpected inconsistency between this result and previous reports was investigated in a second experiment. We hypothesized that the relevant factor was the characteristics of the corrections to be performed. To test this prediction, we investigated a task requiring corrections of the same type as investigated in Huntington's disease, namely large, consciously detected errors induced by large target jumps at hand movement onset. In contrast with the smooth adjustments observed in the first experiment, the subjects responded to the target jump by generating a discrete corrective sub-movement. While this iterative response was relatively rapid in the control subjects (220 ms), Parkinson's disease patients exhibited either dramatically late (>730 ms) or totally absent on-line corrections. When on-line corrections were absent, the initial motor response was completed before a second corrective response was initiated (the latency of the corrective response was the same as the latency of the initial respon

Published
2017

63. A Placebo-Controlled Trial of AQW051 in Patients With Moderate to Severe Levodopa-Induced Dyskinesia

Author

Trenkwalder, C, Berg, D, Rascol, O, Eggert, K, Ceballos-Baumann, A, Corvol, J-C, Storch, A, Zhang, L, Azulay, J-P, Broussolle, E, Defebvre, L, Geny, C, Gostkowski, M, Stocchi, F, Tranchant, C, Derkinderen, P, Durif, F, Espay, AJ, Feigin, A, Houeto, J-L, Schwarz, J, Di Paolo, T, Feuerbach, D, Hockey, H-U, Jaeger, J, Jakab, A, Johns, D, Linazasoro, G, Maruff, P, Rozenberg, I, Sovago, J, Weiss, M, Gomez-Mancilla, B, Trenkwalder, C, Berg, D, Rascol, O, Eggert, K, Ceballos-Baumann, A, Corvol, J-C, Storch, A, Zhang, L, Azulay, J-P, Broussolle, E, Defebvre, L, Geny, C, Gostkowski, M, Stocchi, F, Tranchant, C, Derkinderen, P, Durif, F, Espay, AJ, Feigin, A, Houeto, J-L, Schwarz, J, Di Paolo, T, Feuerbach, D, Hockey, H-U, Jaeger, J, Jakab, A, Johns, D, Linazasoro, G, Maruff, P, Rozenberg, I, Sovago, J, Weiss, M, and Gomez-Mancilla, B

Published
2016

64. How much phenotypic variation can be attributed to parkin genotype?

Author

LOHMANN E, PERIQUET M, BONIFATI V, WOOD NW, BONNET AM, FRAIX V, BROUSSOLLE E, HORSTINK MW, VIDAILHET M, VERPILLAT P, GASSER T, NICHOLL D, TEIVE H, RASKIN S, RASCOL O, DESTEE A, RUBERG M, GASPARINI F, MECO G, AGID Y, DURR A, BRICE A, FRENCH PARKINSON'S DISEASE GENETICS STUDY GROUP, EUROPEAN CONSORTIUM ON GENETIC SUSCEPTIBILITY IN PARKINSON'S DISEASE, DE MICHELE, GIUSEPPE, Lohmann, E, Periquet, M, Bonifati, V, Wood, Nw, DE MICHELE, Giuseppe, Bonnet, Am, Fraix, V, Broussolle, E, Horstink, Mw, Vidailhet, M, Verpillat, P, Gasser, T, Nicholl, D, Teive, H, Raskin, S, Rascol, O, Destee, A, Ruberg, M, Gasparini, F, Meco, G, Agid, Y, Durr, A, Brice, A, FRENCH PARKINSON'S DISEASE GENETICS STUDY, Group, and EUROPEAN CONSORTIUM ON GENETIC SUSCEPTIBILITY IN PARKINSON'S, Disease

Published
2003

66. Placebo effect characteristics observed in a single, international, longitudinal study in Huntington's disease

Author

Cubo, E, González, M, del Puerto, I, de Yébenes, Jg, Arconada, Of, Gabriel Galán, Jm, Ehdi, Sg, Zangerl, A, Seppi, K, Wenning, G, Poewe, W, Foeldy, D, Auff, E, Schober, T, Wenzel, K, Ott, E, Walli, J, Leblhuber, F, Dürr, A, Bloch, F, Messouak, O, Tallaksen, C, Dubois, B, Guillamo, Js, Bachoud Lévi, Ac, Engles, A, Krystkowiak, P, Destée, A, Memin, A, Thibaut Tanchou, S, Pasquier, F, Azulay, Jp, Demonet, Jf, Galitzky, M, Rascol, O, Mollion, H, Broussolle, E, Madigand, M, Lallement, F, Goizet, C, Tison, F, Arguillère, S, Viallet, F, Bakchine, S, Khoris, J, Pages, M, Camu, W, Resch, F, Hannequin, D, Durif, F, Saudeau, D, Autret, A, Andrich, J, Saft, C, Kraus, Ph, Przuntek, H, Ecker, D, Kramer, B, Landwehrmeyer, Gb, Ludolph, Ac, Priller, J, Meierkord, H, Kuznik, D, Dose, M, Squitieri, F, Albanese, A, Abbruzzese, Giovanni, Filla, A, van de Warrenburg, B, de Jong, D, Kremer, H, van Vugt, J, Grimbergen, Y, Roos, R, Gawel, M, Janik, P, Kowalczys, H, Pilczuk, B, Kwiecinski, H, Świat, M, Ochudło, S, Modestowicz, R, Niezgoda, A, Łukasik, M, Lukasik, M, García Ruiz, P, Descals, Am, Rojo, A, Fontán, A, Hernández, J, Cantarero, S, Fanjul, S, Alegre, J, Roldán, Sg, Mateo, D, Burguera, Ja, Solis, P, Calopa, M, Jaumà, S, Bas, J, Tolosa, E, Muñoz, Je, Gámez, J, Cervera, C, Zarranz, Jj, Lezcano, E, Gómez, Jc, Chacón, J, Dinca, L, Gamero, Ma, Redondo, L, Castro, A, Sesar, A, López del Val, J, López, E, Ríos, C, Castillio, V, Burgunder, Jm, Nirkko, A, Kälin, A, Vingerhoets, F, and Wider, C.

Published
2012

67. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study

Author

Ross, Owen A, Soto-Ortolaza, Alexandra I, Brighina, Laura, Riess, Olaf, Klein, Christine, Djarmati, Ana, Hagenah, Johann, Lohmann, Katja, van de Loo, Simone, Abahuni, Nadine, Gispert-Sánchez, Suzana, Hilker, Rüdiger, Auburger, Georg, Van Broeckhoven, Christine, Xiromerisiou, Georgia, Tsimourtou, Vaia, Ralli, Styliani, Kountra, Persa, Markou, Katerina, Patramani, Gianna, Vogiatzi, Christina, Lynch, Tim, Gibson, J Mark, Craig, Dr David, Carr, Jonathan, Valente, Enza Maria, Ferraris, Alessandro, Bentivoglio, Anna Rita, Ialongo, Tamara, Guidubaldi, Arianna, Piano, Carla, Ferrarese, Carlo, Tarantino, Patrizia, Annesi, Ferdinanda, Chartier-Harlin, Marie-Christine, Annesi, Grazia, Quattrone, Aldo, Hattori, Nobutaka, Tomiyama, Hiroyuki, Funayama, Manabu, Yoshino, Hiroyo, Li, Yuanzhe, Imamichi, Yoko, Toda, Tatsushi, Satake, Wataru, Dardiotis, Efthimios, Aasly, J., Opala, Grzegorz, Jasinska-Myga, Barbara, Boczarska-Jedynak, Magdalena, Tan, Eng King, Bardien, Soraya, Jeon, Beom Seok, Park, Sung Sup, Kim, Yun Joong, Dickson, Dennis W, Sohn, Young Ho, Belin, Andrea Carmine, Olson, Lars, Galter, Dagmar, Westerlund, Marie, Sydow, Olof, Pedersen, Nancy L, Wirdefeldt, Karin, Nilsson, Christer, Puschmann, Andreas, Diehl, Nancy N, Wu, Ruey-Meei, Maraganore, Demetrius M, Ahlskog, Eric, de Andrade, Mariza, Lesnick, Timothy G, Rocca, Walter A, Checkoway, Harvey, Farrer, M., Elbaz, Alexis, Heckman, Michael G, Fiske, Brian, Gibson, Rachel, Hadjigeorgiou, Georgios M, Ioannidis, John P A, Jeon, Beom S, Aasly, Jan O, Kruger, Rejko, Kyratzi, Elli, Lesage, Suzanne, Lin, Chin-Hsien, Lynch, Timothy, Mellick, George D, Mutez, Eugénie, Sharma, Manu, Silburn, Peter A, Stefanis, Leonidas, Tadic, Vera, Theuns, Jessie, Uitti, Ryan J, Vassilatis, Demetrios K, Vilariño-Güell, Carles, White, Linda R, Wszolek, Zbigniew K, Farrer, Matthew J, Bacon, Justin A, Disease, Genetic Epidemiology Of Parkinson's, Sutherland, G. T., Siebert, G. A., Nuytemans, Karen, Meeus, Bram, Crosiers, David, Pickut, Barbara, Engelborghs, Sebastiaan, De Deyn, Peter P, Cras, Patrick, Rogaeve, Ekaterina, Destée, A., Agid, Y., Anheim, M., Bonnet, A-M, Borg, M., Bozi, Maria, Brice, A., Broussolle, E., Corvol, J. C., Damier, P., Dürr, A., Durif, F., Lesage, S., Lohmann, E., Pollak, P., Brice, Alexis, Rascol, O., Tison, F., Tranchant, C., Viallet, F., Vidailhet, M., Gasser, Thomas, Krüger, Rejko, Berg, Daniela, Schulte, Claudia, Ross, O, Soto Ortolaza, A, Heckman, M, Aasly, J, Abahuni, N, Annesi, G, Bacon, J, Bardien, S, Bozi, M, Brice, A, Brighina, L, Van Broeckhoven, C, Carr, J, Chartier Harlin, M, Dardiotis, E, Dickson, D, Diehl, N, Elbaz, A, Ferrarese, C, Ferraris, A, Fiske, B, Gibson, J, Gibson, R, Hadjigeorgiou, G, Hattori, N, Ioannidis, J, Jasinska Myga, B, Jeon, B, Kim, Y, Klein, C, Kruger, R, Kyratzi, E, Lesage, S, Lin, C, Lynch, T, Maraganore, D, Mellick, G, Mutez, E, Nilsson, C, Opala, G, Park, S, Puschmann, A, Quattrone, A, Sharma, M, Silburn, P, Sohn, Y, Stefanis, L, Tadic, V, Theuns, J, Tomiyama, H, Uitti, R, Valente, E, van de Loo, S, Vassilatis, D, Vilariño Güell, C, White, L, Wirdefeldt, K, Wszolek, Z, Wu, R, Farrer, M, Engelborghs, Sebastiaan, De Deyn, Peter Paul, Cras, Patrick, Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium, Pathologic Biochemistry and Physiology, and Pollak, Pierre

Subjects
Male, Polymorphism, Single Nucleotide/*genetics, International Cooperation, Ethnic Groups/genetics, Ethnic Group, Genome-wide association study, Protein-Serine-Threonine Kinase, methods [Genome-Wide Association Study], genetics [Ethnic Groups], 0302 clinical medicine, Gene Frequency, genetics [Parkinson Disease], Risk Factors, Exons/genetics, Ethnicity, Parkinson Disease/genetics, Medicine(all), Genetics, Aged, 80 and over, 0303 health sciences, Parkinson Disease, Exons, genetics [Exons], Middle Aged, Polymorphism, Single Nucleotide/genetics, Protein-Serine-Threonine Kinases, LRRK2, 3. Good health, genetics [Polymorphism, Single Nucleotide], Genome-Wide Association Study/methods, Female, Case-Control Studie, Human, Adult, Parkinson Disease/*genetics, Genotype, Adolescent, Protein-Serine-Threonine Kinases/*genetics, Protein-Serine-Threonine Kinases/genetics, Exon, Protein Serine-Threonine Kinases, Biology, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, genetics [Protein-Serine-Threonine Kinases], Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, Humans, Genetic Predisposition to Disease, ddc:610, LRRK2 protein, human, Risk factor, Allele frequency, 030304 developmental biology, Aged, Risk Factor, Case-control study, Exons/*genetics, Odds ratio, nervous system diseases, ddc:616.8, Minor allele frequency, Genetic epidemiology, Case-Control Studies, Neurology (clinical), Human medicine, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

BACKGROUND: Background The leucine-rich repeat kinase 2 gene (LRRK2) harbours highly penetrant mutations that are linked to familial parkinsonism. However, the extent of its polymorphic variability in relation to risk of Parkinson's disease (PD) has not been assessed systematically. We therefore assessed the frequency of LRRK2 exonic variants in individuals with and without PD, to investigate the role of the variants in PD susceptibility. METHODS: LRRK2 was genotyped in patients with PD and controls from three series (white, Asian, and Arab-Berber) from sites participating in the Genetic Epidemiology of Parkinson's Disease Consortium. Genotyping was done for exonic variants of LRRK2 that were identified through searches of literature and the personal communications of consortium members. Associations with PD were assessed by use of logistic regression models. For variants that had a minor allele frequency of 0.5% or greater, single variant associations were assessed, whereas for rarer variants information was collapsed across variants. FINDINGS: 121 exonic LRRK2 variants were assessed in 15 540 individuals: 6995 white patients with PD and 5595 controls, 1376 Asian patients and 962 controls, and 240 Arab-Berber patients and 372 controls. After exclusion of carriers of known pathogenic mutations, new independent risk associations were identified for polymorphic variants in white individuals (M1646T, odds ratio 1.43, 95% CI 1.15-1.78; p=0.0012) and Asian individuals (A419V, 2.27, 1.35-3.83; p=0.0011). A protective haplotype (N551K-R1398H-K1423K) was noted at a frequency greater than 5% in the white and Asian series, with a similar finding in the Arab-Berber series (combined odds ratio 0.82, 0.72-0.94; p=0.0043). Of the two previously reported Asian risk variants, G2385R was associated with disease (1.73, 1.20-2.49; p=0.0026), but no association was noted for R1628P (0.62, 0.36-1.07; p=0.087). In the Arab-Berber series, Y2189C showed potential evidence of risk association with PD (4.48, 1.33-15.09; p=0.012). INTERPRETATION: The results for LRRK2 show that several rare and common genetic variants in the same gene can have independent effects on disease risk. LRRK2, and the pathway in which it functions, is important in the cause and pathogenesis of PD in a greater proportion of patients with this disease than previously believed. These results will help discriminate those patients who will benefit most from therapies targeted at LRRK2 pathogenic activity. FUNDING: Michael J Fox Foundation and National Institutes of Health. Lancet Neurol

Published
2011
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68. Liver Transplantation in Severe Neurological Forms of Wilson Disease; The French Experience

Author

Sobesky, R., primary, Poujois, A., additional, Brunet, A.S., additional, Broussolle, E., additional, Guillaud, O., additional, Salame, E., additional, Maillot, F., additional, Vanlemmens, C., additional, Hermeziu, B., additional, Meissner, W., additional, De Ledinghen, V., additional, Adam, R., additional, Cherqui, D., additional, Castaing, D., additional, Samuel, D., additional, Woimant, F., additional, and Vallée, J.C.D., additional

Published
2016
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69. How to Capitalize on the Retest Effect in Future Trials on Huntington's Disease.

Author

European Huntington's Disease Initiative Study Group, the Multicentre Intracerebral Grafting in Huntington's Disease Group, Bachoud-Lévi, AC., Boissé, MF., Lemoine, L., Verny, C., Aubin, G., Demonet, JF., Calvas, F., Krystkowiak, P., Simonin, C., Delliaux, M., Damier, P., Renou, P., Supiot, F., Slama, H., Guillamo, J., Dürr, A., Bloch, F., Messouak, O., Tallaksen, C., Dubois, B., Engles, A., Destee, A., Memin, A., Thibaut-Tanchou, S., Pasquier, F., Galitzky, M., Rascol, O., Mollion, H., Broussolle, E., Madigand, M., Lallement, F., Goizet, C., Tison, F., Arguillère, S., Bakchine, S., Khoris, J., Camu, W., Resch, F., Hannequin, D., Durif, F., Saudeau, D., Autret, A., Schramm, C., Katsahian, S., Youssov, K., Démonet, J.F., Cleret de Langavant, L., Bachoud-Lévi, A.C., European Huntington's Disease Initiative Study Group, the Multicentre Intracerebral Grafting in Huntington's Disease Group, Bachoud-Lévi, AC., Boissé, MF., Lemoine, L., Verny, C., Aubin, G., Demonet, JF., Calvas, F., Krystkowiak, P., Simonin, C., Delliaux, M., Damier, P., Renou, P., Supiot, F., Slama, H., Guillamo, J., Dürr, A., Bloch, F., Messouak, O., Tallaksen, C., Dubois, B., Engles, A., Destee, A., Memin, A., Thibaut-Tanchou, S., Pasquier, F., Galitzky, M., Rascol, O., Mollion, H., Broussolle, E., Madigand, M., Lallement, F., Goizet, C., Tison, F., Arguillère, S., Bakchine, S., Khoris, J., Camu, W., Resch, F., Hannequin, D., Durif, F., Saudeau, D., Autret, A., Schramm, C., Katsahian, S., Youssov, K., Démonet, J.F., Cleret de Langavant, L., and Bachoud-Lévi, A.C.

Abstract

The retest effect-improvement of performance on second exposure to a task-may impede the detection of cognitive decline in clinical trials for neurodegenerative diseases. We assessed the impact of the retest effect in Huntington's disease trials, and investigated its possible neutralization. We enrolled 54 patients in the Multicentric Intracerebral Grafting in Huntington's Disease (MIG-HD) trial and 39 in the placebo arm of the Riluzole trial in Huntington's Disease (RIL-HD). All were assessed with the Unified Huntington's Disease Rating Scale (UHDRS) plus additional cognitive tasks at baseline (A1), shortly after baseline (A2) and one year later (A3). We used paired t-tests to analyze the retest effect between A1 and A2. For each task of the MIG-HD study, we used a stepwise algorithm to design models predictive of patient performance at A3, which we applied to the RIL-HD trial for external validation. We observed a retest effect in most cognitive tasks. A decline in performance at one year was detected in 3 of the 15 cognitive tasks with A1 as the baseline, and 9 of the 15 cognitive tasks with A2 as the baseline. We also included the retest effect in performance modeling and showed that it facilitated performance prediction one year later for 14 of the 15 cognitive tasks. The retest effect may mask cognitive decline in patients with neurodegenerative diseases. The dual baseline can improve clinical trial design, and better prediction should homogenize patient groups, resulting in smaller numbers of participants being required.

Published
2015

71. [Internet and amyotrophic lateral sclerosis treatment: What is wrong?]

Author

Meininger, V., Antoine, J.-C., Arne-Bes, M. C., Broussolle, E., Bruneteau, G., Camdessanche, J. P., Camu, W., Carluer, L., Cintas, P., Clavelou, Pierre, Corcia, P., Couratier, Philippe, Danel-Brunaud, V., Desnuelle, C., Destée, A., Dib, M., Fleury, M.-C., Furby, A., Giroud, M., Gonzales, J., Guy, N., Kolev, I., Lacomblez, Lucette, Lardillier-Noel, D., Le Forestier, N., Maugin, D., Nicolas, G., Pittion, S., Pouget, Jean, Pradat, P. F., Rousso, E., Salachas, F., Soriani, M. H., Tranchant, C., Vandenberghe, N., Verschueren, A., Viader, F., Vial, C., Service de Neurologie [CHU Limoges], CHU Limoges, Neuroépidémiologie Tropicale et Comparée (NETEC), and Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Université de Limoges (UNILIM)

Subjects
Internet, United States Food and Drug Administration, Amyotrophic Lateral Sclerosis, Drug Evaluation, Preclinical, Lithium Compounds, Humans, Intercellular Signaling Peptides and Proteins, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, France, Insulin-Like Growth Factor I, Drug Approval, United States, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2009
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73. Weight loss in Huntington disease increases with higher CAG repeat number

Author

Aziz, Na, van der Burg, Jm, Landwehrmeyer, Gb, Brundin, P, Stijnen, T, Ehdi, Sg, Roos, Ra, Zangerl, A, Seppi, K, Wenning, G, Poewe, W, Foeldy, D, Auff, E, Schober, T, Wenzel, K, Ott, E, Walli, J, Leblhuber, F, Dürr, A, Bloch, F, Messouak, O, Tallaksen, C, Dubois, B, Guillamo, Js, Bachoud Lévi, Ac, Engles, A, Krystkowiak, P, Destée, A, Memin, A, Thibaut Tanchou, S, Pasquier, F, Azulay, Jp, Demonet, Jf, Galitzky, M, Rascol, O, Mollion, H, Broussolle, E, Madigand, M, Lallement, F, Goizet, C, Tison, F, Arguillère, S, Viallet, F, Bakchine, S, Khoris, J, Pages, M, Camu, W, Resch, F, Hannequin, D, Durif, F, Saudeau, D, Autret, A, Andrich, J, Saft, C, Kraus, Ph, Przuntek, H, Ecker, D, Kramer, B, Ludolph, Ac, Priller, J, Meierkord, H, Kuznik, D, Dose, M, Squitieri, F, Albanese, A, Abbruzzese, Giovanni, Filla, A, van de Warrenburg, B, de Jong, D, Kremer, H, van Vugt, J, Grimbergen, Y, Roos, R, Gawel, M, Janik, P, Kowalczys, H, Pilczuk, B, Kwiecinski, H, Swiat, M, Ochudło, S, Modestowicz, R, Niezgoda, A, Łukasik, M, Garcia de Yébenes, J, García Ruiz, P, Martínez Descals, A, Rojo, A, Fontán, A, Hernández, J, Cantarero, S, Fanjul, S, Alegre, J, Giménez Roldán, S, Mateo, D, Burguera, Ja, Solis, P, Calopa, M, Jaumà, S, Bas, J, Tolosa, E, Muñoz, Je, Gámez, J, Cervera, C, Zarranz, Jj, Lezcano, E, Gómez, Jc, Chacón, J, Dinca, L, Gamero, Ma, Redondo, L, Castro, A, Sesar, A, López del Val, J, López, E, Ríos, C, Castillio, V, Burgunder, Jm, Nirkko, A, Kälin, A, Vingerhoets, F, Wider, C., N. A., Aziz, J. M., M, G. B., Landwehrmeyer, P., Brundin, T., Stijnen, E. H. D., R. A. C., and Filla, Alessandro

Subjects
Male, Pathology, therapeutic use, Nuclear Protein, Neurology, Disease, Body Mass Index, Placebos, Mice, Degenerative disease, Trinucleotide Repeats, Weight loss, genetics, Huntingtin Protein, Riluzole, Nuclear Proteins, Middle Aged, Huntington Disease, Neuroprotective Agents, Inbred C57BL, Mice, genetics/metabolism, Placebos, Riluzole, Female, medicine.symptom, Psychology, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Mice, Transgenic, Nerve Tissue Proteins, Animal, Energy Intake, Female, Humans, Huntington Disease, Central nervous system disease, therapeutic use, Trinucleotide Repeats, Weight Lo, Internal medicine, Weight Loss, mental disorders, medicine, Animals, Humans, Hereditary Neurodegenerative Disorder, Transgenic, Middle Aged, Nerve Tissue Protein, Aged, drug therapy/genetics/physiopathology, Male, Mice, Mice, Body Weight, medicine.disease, Adult, Aged, Animals, Body Mass Index, Body Weight, Disease Model, Mice, Inbred C57BL, Disease Models, Animal, Endocrinology, genetics/metabolism, Neuroprotective Agent, Neurology (clinical), Energy Intake, Body mass index
Abstract

Huntington disease (HD) is a hereditary neurodegenerative disorder caused by an expanded number of CAG repeats in the huntingtin gene. A hallmark of HD is unintended weight loss, the cause of which is unknown. In order to elucidate the underlying mechanisms of weight loss in HD, we studied its relation to other disease characteristics including motor, cognitive, and behavioral disturbances and CAG repeat number.In 517 patients with early stage HD, we applied mixed-effects model analyses to correlate weight changes over 3 years to CAG repeat number and various components of the Unified Huntington's Disease Rating Scale (UHDRS). We also assessed the relation between CAG repeat number and body weight and caloric intake in the R6/2 mouse model of HD.In patients with HD, mean body mass index decreased with -0.15 units per year (p < 0.001). However, no single UHDRS component, including motor, cognitive, and behavioral scores, was independently associated with the rate of weight loss. Patients with HD with a higher CAG repeat number had a faster rate of weight loss. Similarly, R6/2 mice with a larger CAG repeat length had a lower body weight, whereas caloric intake increased with larger CAG repeat length.Weight loss in Huntington disease (HD) is directly linked to CAG repeat length and is likely to result from a hypermetabolic state. Other signs and symptoms of HD are unlikely to contribute to weight loss in early disease stages. Elucidation of the responsible mechanisms could lead to effective energy-based therapeutics.

Published
2008

77. The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

Author

Klebe, S. (Stephan), Golmard, L. (Lisa), Nalls, M.A. (Michael), Saad, F. (Fred), Singleton, A. (Andrew), Bras, J. (Jose), Hardy, J. (John), Simón-Sánchez, J. (Javier), Heutink, P. (Peter), Kuhlenbäumer, G. (Gregor), Charfi, R. (Rim), Klein, C. (Christoph), Hagenah, J., Gasser, T. (Thomas), Wurster, K.D. (Kathrin), Lesage, S. (Suzanne), Lorenz, D. (Delia), Deuschl, G. (Günther), Durif, F. (Franck), Pollak, M.N. (Michael), Damier, P. (Philippe), Tison, F. (François), Durr, A., Amouyel, P. (Philippe), Lambert, J.C. (Jean Charles), Tzourio, C. (Christophe), Maubaret, C. (Cécilia), Charbonnier-Beaupel, F. (Fanny), Tahiri, K. (Khadija), Vidailhet, M. (M.), Martinez, M. (Maria), Brice, A., Corvol, J.C. (Jean-Christophe), Agid, Y. (Yves), Anheim, M. (M.), Bonnet, A.-M. (A.), Borg, M. (Michael), Broussolle, E. (E.), Corvol, J.C. (Jean Christophe), Damier, Ph. (Ph), Destée, A. (A.), Durif, F. (F.), Klebe, S. (S.), Lohmann, E. (E.), Penet, C. (C.), Krack, P. (P.), Rascol, O. (O.), Tison, F. (F.), Tranchant, C. (C.), Vérin, M. (M.), Viallet, F. (F.), Vidailhet, M. (Marie), Plagnol, V. (Vincent), Bras, J.M. (Jose), Hernandez, D.G. (Dena), Sharma, M., Sheerin, U.-M. (Una-Marie), Schulte, C. (Claudia), Sveinbjörnsdóttir, S. (Sigurlaug), Arepalli, S. (Sampath), Band, G. (Gavin), Vukcevic, D. (Damjan), Barker, R.A. (Roger), Bellinguez, C. (Céline), Ben-Shlomo, Y., Berendse, H.W. (Henk W.), Berg, D. (Daniela), Bhatia, K.P. (Kailash), Bie, R.M.A. (Rob) de, Biffi, A. (Alessandro), Bloem, B. (Bas), Bochdanovits, Z. (Zoltan), Bonin, M. (Malte) von, Brockmann, K., Brooks, J. (Janet), Burn, D.J. (David), Charlesworth, K. (Kate), Chen, H. (Honglei), Chinnery, P.F. (Patrick), Chong, S. (Sean), Clarke, C.E. (Carl), Cookson, M.R. (Mark), Cooper, J.M. (J. Mark), Counsell, C. (Carl), Dartigues, J.-F., Deloukas, P. (Panagiotis), Dexter, D.T. (David), Dijk, K.D. (Karin) van, Dillman, A. (Allissa), Durif, F. (Frank), Edkins, T. (Ted), Evans, J. (Jonathan Mark), Foltynie, T. (Thomas), Freeman, C. (Colin), Gao, J. (Jianjun), Gardner, M. (Mac), Gibbs, J. (Raphael), Goate, A.M. (Alison), Gray, E. (Emma), Guerreiro, R. (Rita), Gustafsson, O. (Omar), Harris, C. (Clare), Hellenthal, F.A., Hilten, J.J. (Jacobus) van, Hofman, A. (Albert), Hollenbeck, J.R. (John R.), Holton, J.L. (Janice), Hu, M. (Michele), Huang, X. (Xiaohong), Huber, H. (Heiko), Hudson, G. (Gavin), Hunt, S.E. (Sarah), Huttenlocher, J. (Johanna), Illig, T. (Thomas), Jónsson, P.V. (Pálmi), Langford, C. (Cordelia), Lees, A.J. (Andrew), Lichtner, P. (Peter), Limousin, P. (Patricia), Lopez, G., McNeill, N.H. (Nathan), Moorby, C. (Catriona), Moore, M. (Matt), Morris, H. (Huw), Morrison, K.E. (Karen), Mudanohwo, E. (Ese), O'Sullivan, S.S. (Sean), Pearson, J. (Justin), Pearson, R. (Ruth), Perlmutter, J.S. (Joel), Pétursson, H. (Hjörvar), Pirinen, M. (Matti), Post, B. (Bart), Ravina, B. (Bernard), Revesz, T. (Tamas), Riess, O. (Olaf), Rivadeneira Ramirez, F. (Fernando), Rizzu, P. (Patrizia), Ryten, M. (Mina), Sawcer, S.J. (Stephen), Schapira, A.H.V. (Anthony), Scheffer, H. (Hans), Shaw, K. (Karen), Shoulson, I. (Ira), Sidransky, E. (Ellen), Silva, R. (Rohan) de, Smith, C. (Colin), Spencer, C.C.A. (Chris C.), Stefansson, H. (Hreinn), Wolf, C. (Christiane), Stockton, J.D. (Joanna), Strange, A. (Amy), Su, Z. (Zhan), Talbot, D., Tanner, C.M. (Carlie), Tashakkori-Ghanbaria, A. (Avazeh), Trabzuni, D. (Danyah), Traynor, B.J. (Bryan), Uitterlinden, A.G. (André), Vandrovcova, J. (Jana), Velseboer, D. (Daan), Walker, R. (Robert), Warrenburg, B. (Bart) van de, Weale, M.E. (Michael), Wickremaratchi, M. (Mirdhu), Williams, N. (Nigel), Williams-Gray, C.H. (Caroline), Winder-Rhodes, S. (Sophie), Zwart, J-A. (John-Anker), Wood, N.W. (Nicholas), Klebe, S. (Stephan), Golmard, L. (Lisa), Nalls, M.A. (Michael), Saad, F. (Fred), Singleton, A. (Andrew), Bras, J. (Jose), Hardy, J. (John), Simón-Sánchez, J. (Javier), Heutink, P. (Peter), Kuhlenbäumer, G. (Gregor), Charfi, R. (Rim), Klein, C. (Christoph), Hagenah, J., Gasser, T. (Thomas), Wurster, K.D. (Kathrin), Lesage, S. (Suzanne), Lorenz, D. (Delia), Deuschl, G. (Günther), Durif, F. (Franck), Pollak, M.N. (Michael), Damier, P. (Philippe), Tison, F. (François), Durr, A., Amouyel, P. (Philippe), Lambert, J.C. (Jean Charles), Tzourio, C. (Christophe), Maubaret, C. (Cécilia), Charbonnier-Beaupel, F. (Fanny), Tahiri, K. (Khadija), Vidailhet, M. (M.), Martinez, M. (Maria), Brice, A., Corvol, J.C. (Jean-Christophe), Agid, Y. (Yves), Anheim, M. (M.), Bonnet, A.-M. (A.), Borg, M. (Michael), Broussolle, E. (E.), Corvol, J.C. (Jean Christophe), Damier, Ph. (Ph), Destée, A. (A.), Durif, F. (F.), Klebe, S. (S.), Lohmann, E. (E.), Penet, C. (C.), Krack, P. (P.), Rascol, O. (O.), Tison, F. (F.), Tranchant, C. (C.), Vérin, M. (M.), Viallet, F. (F.), Vidailhet, M. (Marie), Plagnol, V. (Vincent), Bras, J.M. (Jose), Hernandez, D.G. (Dena), Sharma, M., Sheerin, U.-M. (Una-Marie), Schulte, C. (Claudia), Sveinbjörnsdóttir, S. (Sigurlaug), Arepalli, S. (Sampath), Band, G. (Gavin), Vukcevic, D. (Damjan), Barker, R.A. (Roger), Bellinguez, C. (Céline), Ben-Shlomo, Y., Berendse, H.W. (Henk W.), Berg, D. (Daniela), Bhatia, K.P. (Kailash), Bie, R.M.A. (Rob) de, Biffi, A. (Alessandro), Bloem, B. (Bas), Bochdanovits, Z. (Zoltan), Bonin, M. (Malte) von, Brockmann, K., Brooks, J. (Janet), Burn, D.J. (David), Charlesworth, K. (Kate), Chen, H. (Honglei), Chinnery, P.F. (Patrick), Chong, S. (Sean), Clarke, C.E. (Carl), Cookson, M.R. (Mark), Cooper, J.M. (J. Mark), Counsell, C. (Carl), Dartigues, J.-F., Deloukas, P. (Panagiotis), Dexter, D.T. (David), Dijk, K.D. (Karin) van, Dillman, A. (Allissa), Durif, F. (Frank), Edkins, T. (Ted), Evans, J. (Jonathan Mark), Foltynie, T. (Thomas), Freeman, C. (Colin), Gao, J. (Jianjun), Gardner, M. (Mac), Gibbs, J. (Raphael), Goate, A.M. (Alison), Gray, E. (Emma), Guerreiro, R. (Rita), Gustafsson, O. (Omar), Harris, C. (Clare), Hellenthal, F.A., Hilten, J.J. (Jacobus) van, Hofman, A. (Albert), Hollenbeck, J.R. (John R.), Holton, J.L. (Janice), Hu, M. (Michele), Huang, X. (Xiaohong), Huber, H. (Heiko), Hudson, G. (Gavin), Hunt, S.E. (Sarah), Huttenlocher, J. (Johanna), Illig, T. (Thomas), Jónsson, P.V. (Pálmi), Langford, C. (Cordelia), Lees, A.J. (Andrew), Lichtner, P. (Peter), Limousin, P. (Patricia), Lopez, G., McNeill, N.H. (Nathan), Moorby, C. (Catriona), Moore, M. (Matt), Morris, H. (Huw), Morrison, K.E. (Karen), Mudanohwo, E. (Ese), O'Sullivan, S.S. (Sean), Pearson, J. (Justin), Pearson, R. (Ruth), Perlmutter, J.S. (Joel), Pétursson, H. (Hjörvar), Pirinen, M. (Matti), Post, B. (Bart), Ravina, B. (Bernard), Revesz, T. (Tamas), Riess, O. (Olaf), Rivadeneira Ramirez, F. (Fernando), Rizzu, P. (Patrizia), Ryten, M. (Mina), Sawcer, S.J. (Stephen), Schapira, A.H.V. (Anthony), Scheffer, H. (Hans), Shaw, K. (Karen), Shoulson, I. (Ira), Sidransky, E. (Ellen), Silva, R. (Rohan) de, Smith, C. (Colin), Spencer, C.C.A. (Chris C.), Stefansson, H. (Hreinn), Wolf, C. (Christiane), Stockton, J.D. (Joanna), Strange, A. (Amy), Su, Z. (Zhan), Talbot, D., Tanner, C.M. (Carlie), Tashakkori-Ghanbaria, A. (Avazeh), Trabzuni, D. (Danyah), Traynor, B.J. (Bryan), Uitterlinden, A.G. (André), Vandrovcova, J. (Jana), Velseboer, D. (Daan), Walker, R. (Robert), Warrenburg, B. (Bart) van de, Weale, M.E. (Michael), Wickremaratchi, M. (Mirdhu), Williams, N. (Nigel), Williams-Gray, C.H. (Caroline), Winder-Rhodes, S. (Sophie), Zwart, J-A. (John-Anker), and Wood, N.W. (Nicholas)

Abstract

The catechol-O-methyltranferase (COMT) is one of the main enzymes that metabolise dopamine in the brain. The Val158Met polymorphism in the COMT gene (rs4680) causes a trimodal distribution of high (Val/Val), intermediate (Val/Met) and low (Met/Met) enzyme activity. We tested whether the Val158Met polymorphism is a modifier of the age at onset (AAO) in Parkinson’s disease (PD). The rs4680 was genotyped in a total of 16 609 subjects from five independent cohorts of European and North American origin (5886 patients with PD and 10 723 healthy controls). The multivariate analysis for comparing PD and control groups was based on a stepwise logistic regression, with gender, age and cohort origin included in the initial model. The multivariate analysis of the AAO was a mixed linear model, with COMT genotype and gender considered as fixed effects and cohort and cohort-gender interaction as random effects. COMT genotype was coded as a quantitative variable, assuming a codominant genetic effect. The distribution of the COMT polymorphism was not significantly different in patients and controls (p=0.22). The Val allele had a significant effect on the AAO with a younger AAO in patients with the Val/Val (57.1±13.9, p=0.03) than the Val/Met (57.4±13.9) and the Met/Met genotypes (58.3±13.5). The difference was greater in men (1.9 years between Val/Val and Met/Met, p=0.007) than in women (0.2 years, p=0.81). Thus, the Val158Met COMT polym

Published
2013
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80. Motor cortex stimulation does not improve dystonia secondary to a focal basal ganglia lesion

Author

Rieu, I., primary, Aya Kombo, M., additional, Thobois, S., additional, Derost, P., additional, Pollak, P., additional, Xie, J., additional, Pereira, B., additional, Vidailhet, M., additional, Burbaud, P., additional, Lefaucheur, J. P., additional, Lemaire, J. J., additional, Mertens, P., additional, Chabardes, S., additional, Broussolle, E., additional, and Durif, F., additional

Published
2013
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84. Absence of Airway Secretion Accumulation Predicts Tolerance of Noninvasive Ventilation in Subjects With Amyotrophic Lateral Sclerosis

Author

Vandenberghe, N., primary, Vallet, A.-E., additional, Petitjean, T., additional, Le Cam, P., additional, Peysson, S., additional, Guerin, C., additional, Dailler, F., additional, Jay, S., additional, Cadiergue, V., additional, Bouhour, F., additional, Court-Fortune, I., additional, Camdessanche, J.-P., additional, Antoine, J.-C., additional, Philit, F., additional, Beuret, P., additional, Bin-Dorel, S., additional, Vial, C., additional, and Broussolle, E., additional

Published
2013
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86. Large-scale replication and heterogeneity in Parkinson disease genetic loci

Author

Sharma, Manu, primary, Ioannidis, John P.A., additional, Aasly, Jan O., additional, Annesi, Grazia, additional, Brice, Alexis, additional, Van Broeckhoven, Christine, additional, Bertram, Lars, additional, Bozi, Maria, additional, Crosiers, David, additional, Clarke, Carl, additional, Facheris, Maurizio, additional, Farrer, Matthew, additional, Garraux, Gaetan, additional, Gispert, Suzana, additional, Auburger, Georg, additional, Vilariño-Güell, Carles, additional, Hadjigeorgiou, Georgios M., additional, Hicks, Andrew A., additional, Hattori, Nobutaka, additional, Jeon, Beom, additional, Lesage, Suzanne, additional, Lill, Christina M., additional, Lin, Juei-Jueng, additional, Lynch, Timothy, additional, Lichtner, Peter, additional, Lang, Anthony E., additional, Mok, Vincent, additional, Jasinska-Myga, Barbara, additional, Mellick, George D., additional, Morrison, Karen E., additional, Opala, Grzegorz, additional, Pramstaller, Peter P., additional, Pichler, Irene, additional, Park, Sung Sup, additional, Quattrone, Aldo, additional, Rogaeva, Ekaterina, additional, Ross, Owen A., additional, Stefanis, Leonidas, additional, Stockton, Joanne D., additional, Satake, Wataru, additional, Silburn, Peter A., additional, Theuns, Jessie, additional, Tan, Eng-King, additional, Toda, Tatsushi, additional, Tomiyama, Hiroyuki, additional, Uitti, Ryan J., additional, Wirdefeldt, Karin, additional, Wszolek, Zbigniew, additional, Xiromerisiou, Georgia, additional, Yueh, Kuo-Chu, additional, Zhao, Yi, additional, Gasser, Thomas, additional, Maraganore, Demetrius, additional, Krüger, Rejko, additional, Boyle, R.S, additional, Sellbach, A, additional, O'Sullivan, J.D., additional, Sutherland, G.T., additional, Siebert, G.A, additional, Dissanayaka, N.N.W, additional, Pickut, Barbara, additional, Engelborghs, Sebastiaan, additional, Meeus, Bram, additional, De Deyn, Peter P., additional, Cras, Patrick, additional, Lang, Anthony E, additional, Agid, Y, additional, Anheim, M, additional, Bonnet, A-M, additional, Borg, M, additional, Brice, A, additional, Broussolle, E, additional, Corvol, JC, additional, Damier, P, additional, Destée, A, additional, Dürr, A, additional, Durif, F, additional, Lesage, S, additional, Lohmann, E, additional, Pollak, P, additional, Rascol, O, additional, Tison, F, additional, Tranchant, C, additional, Viallet, F, additional, Vidailhet, M, additional, Tzourio, Christophe, additional, Amouyel, Philippe, additional, Loriot, Marie-Anne, additional, Mutez, Eugénie, additional, Duflot, Aurélie, additional, Legendre, Jean-Philippe, additional, Waucquier, Nawal, additional, Riess, Olaf, additional, Berg, Daniela, additional, Schulte, Claudia, additional, Klein, Christine, additional, Djarmati, Ana, additional, Hagenah, Johann, additional, Lohmann, Katja, additional, Hilker, Rüdiger, additional, van de Loo, Simone, additional, Dardiotis, Efthimios, additional, Tsimourtou, Vaia, additional, Ralli, Styliani, additional, Kountra, Persa, additional, Patramani, Gianna, additional, Vogiatzi, Cristina, additional, Funayama, Manabu, additional, Yoshino, Hiroyo, additional, Li, Yuanzhe, additional, Imamichi, Yoko, additional, Lynch, Tim, additional, Gibson, J. Mark, additional, Valente, Enza Maria, additional, Ferraris, Alessandro, additional, Dallapiccola, Bruno, additional, Ialongo, Tamara, additional, Brighina, Laura, additional, Corradi, Barbara, additional, Piolti, Roberto, additional, Tarantino, Patrizia, additional, Annesi, Ferdinanda, additional, Jeon, Beom S., additional, Park, Sung-Sup, additional, Aasly, J, additional, Klodowska-Duda, Gabriela, additional, Boczarska-Jedynak, Magdalena, additional, Tan, Eng King, additional, Belin, Andrea Carmine, additional, Olson, Lars, additional, Galter, Dagmar, additional, Westerlund, Marie, additional, Sydow, Olof, additional, Nilsson, Christer, additional, Puschmann, Andreas, additional, Lin, JJ, additional, Maraganore, Demetrius M., additional, Ahlskog, J, Eric, additional, de Andrade, Mariza, additional, Lesnick, Timothy G., additional, Rocca, Walter A., additional, Checkoway, Harvey, additional, Ross, Owen A, additional, and Wszolek, Zbigniew K., additional

Published
2012
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87. Utilisation et impact des neuroleptiques dans la maladie de Huntington : étude à partir de la cohorte du réseau Huntington de langue française

Author

Désaméricq, G., primary, Dolbeau, G., additional, Durr, A., additional, Verny, C., additional, Azulay, J.-P., additional, Krystkowiak, P., additional, Tranchant, C., additional, Goizet, C., additional, Damier, P., additional, Suplot, F., additional, Broussolle, E., additional, Demonet, J.-F., additional, Marie, R.M., additional, Verin, M., additional, Bachoud-Lévi, A.C., additional, and Maison, P., additional

Published
2011
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90. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

Author

Lesage, Suzanne, primary, Anheim, Mathieu, additional, Condroyer, Christel, additional, Pollak, Pierre, additional, Durif, Franck, additional, Dupuits, Céline, additional, Viallet, François, additional, Lohmann, Ebba, additional, Corvol, Jean-Christophe, additional, Honoré, Aurélie, additional, Rivaud, Sophie, additional, Vidailhet, Marie, additional, Dürr, Alexandra, additional, Brice, Alexis, additional, Agid, Y., additional, Bonnet, A.-M., additional, Borg, M., additional, Brice, A., additional, Broussolle, E., additional, Damier, Ph., additional, Destée, A., additional, Dürr, A., additional, Durif, F., additional, Lesage, S., additional, Lohmann, E., additional, Martinez, M., additional, Pollak, P., additional, Rascol, O., additional, Tison, F., additional, Tranchant, C., additional, Troiano, A., additional, Vérin, M., additional, Viallet, F., additional, and Vidailhet, M., additional

Published
2010
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91. L03 Use and impact of neuroleptics in Huntington's disease: a prospective cohort study of the Huntington French speaking group

Author

Dolbeau, G, primary, Lombard, A, additional, Youssov, K, additional, Dürr, A, additional, Charles, P, additional, Verny, C, additional, Azulay, J-P, additional, Krystkowiak, P, additional, Simonin, C, additional, Tranchant, C, additional, Goizet, C, additional, Damier, P, additional, Supiot, F, additional, Broussolle, E, additional, Démonet, J-F, additional, Marie, R-M, additional, Verin, M, additional, Bachoud-Lévi, A-C, additional, and Maison, P, additional

Published
2010
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93. Severe neonatal episodic laryngospasm due to de novo SCN4A mutations

Author

Lion-Francois, L., primary, Mignot, C., additional, Vicart, S., additional, Manel, V., additional, Sternberg, D., additional, Landrieu, P., additional, Lesca, G., additional, Broussolle, E., additional, Billette de Villemeur, T., additional, Napuri, S., additional, des Portes, V., additional, and Fontaine, B., additional

Published
2010
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95. Non-motor dopamine withdrawal syndrome after surgery for Parkinson's disease: predictors and underlying mesolimbic denervation

Author

Thobois, S., primary, Ardouin, C., additional, Lhommee, E., additional, Klinger, H., additional, Lagrange, C., additional, Xie, J., additional, Fraix, V., additional, Coelho Braga, M. C., additional, Hassani, R., additional, Kistner, A., additional, Juphard, A., additional, Seigneuret, E., additional, Chabardes, S., additional, Mertens, P., additional, Polo, G., additional, Reilhac, A., additional, Costes, N., additional, LeBars, D., additional, Savasta, M., additional, Tremblay, L., additional, Quesada, J. L., additional, Bosson, J. L., additional, Benabid, A. L., additional, Broussolle, E., additional, Pollak, P., additional, and Krack, P., additional

Published
2010
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96. Mécanismes physiopathologiques de l’apathie après stimulation du noyau sous-thalamique dans la maladie de Parkinson

Author

Thobois, S., primary, Lhommée, E., additional, Klinger, H., additional, Ardouin, C., additional, Xie, J., additional, Fraix, V., additional, Reilhac, A., additional, Juphard, A., additional, Lagrange, C., additional, Seigneuret, E., additional, Mertens, P., additional, Chabardes, S., additional, Polo, G., additional, LeBars, D., additional, Savasta, M., additional, Tremblay, L., additional, Pollak, P., additional, Broussolle, E., additional, and Krack, P., additional

Published
2010
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98. Les méfaits d’Internet dans les traitements de la sclérose latérale amyotrophique

Author

Meininger, V., primary, Antoine, J.-C., additional, Arne-Bes, M.C., additional, Broussolle, E., additional, Bruneteau, G., additional, Camdessanche, J.P., additional, Camu, W., additional, Carluer, L., additional, Cintas, P., additional, Clavelou, P., additional, Corcia, P., additional, Couratier, P., additional, Danel-Brunaud, V., additional, Desnuelle, C., additional, Destée, A., additional, Dib, M., additional, Fleury, M.-C., additional, Furby, A., additional, Giroud, M., additional, Gonzales, J., additional, Guy, N., additional, Kolev, I., additional, Lacomblez, L., additional, Lardillier-Noel, D., additional, Le Forestier, N., additional, Maugin, D., additional, Nicolas, G., additional, Pittion, S., additional, Pouget, J., additional, Pradat, P.F., additional, Rousso, E., additional, Salachas, F., additional, Soriani, M.H., additional, Tranchant, C., additional, Vandenberghe, N., additional, Verschueren, A., additional, Viader, F., additional, and Vial, C., additional

Published
2009
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