Author: "TISON F" - Searchworks@Jio Institute Digital Library Search Results

Author: IbaA[+ or -]ez, P., Bonnet, A-M, Debarges, B., Lohmann, E., Tison, F., Pollak, P., Agid, Y., Durr, A., and Brice, A.
Subjects: Nerve proteins -- Physiological aspects, Nerve proteins -- Genetic aspects, Nerve proteins -- Research, Parkinson's disease -- Causes of, Parkinson's disease -- Genetic aspects, Parkinson's disease -- Research, Polymerase chain reaction -- Usage, Polymerase chain reaction -- Research
Published: 2004

59. [alpha]-synuclein locus duplication as a cause of familial Parkinson's disease

Author: To]ez, P IbaN[Approximately Equal, Bonnet, A-M, Debarges, B., Lohmann, E., Tison, F., Pollak, P., Agid, Y., Durr, A., and Brice, A.
Published: 2004

60. A Double-Blind, Delayed-Start Trial of Rasagiline in Parkinson's Disease

Author: Olanow, Cw, Rascol, O, Hauser, R, Feigin, Pd, Jankovic, J, Lang, A, Langston, W, Melamed, E, Poewe, W, Stocchi, F, Tolosa, E, ADAGIO STUDY INVESTIGATORS, Collaborators, Bueri, J, Garretto, N, Gershanik, O, Giannaula, R, Micheli, F, Wolf, E, Guttman, M, Hobson, D, Jog, M, King, D, Mendis, T, Miyasaki, J, Panisset, M, Pourcher, E, Rajput, A, Ranawaya, R, Tsui, J, Cesaro, P, Damier, P, Destee, A, Durif, F, Slaoui, T, Tison, F, Viallet, F, Deuschl, G, Gasser, T, Ludolph, A, Oehlwein, C, Przuntek, H, Reifschneider, G, Schnitzler, A, Trenkwalder, C, Bokor, M, Katona, A, Lajtos, J, Nikl, J, Takats, A, Valikovics, A, Badarny, S, Djaldetti, R, Giladi, N, Hassin, S, Rabey, Jm, Reches, A, Schwartz, M, Wirguin, I, Albanese, A, Bentivoglio, A, Bonuccelli, U, Calzetti, S, Comi, G, Curatola, L, Ferrarese, C, Lamberti, P, Marconi, R, Martignoni, E, Meco, Giuseppe, Ruggieri, Stefano, Bomhof, Ma, Hovestadt, A, Krul, Jm, Leenders, Kl, Cunha, L, Ferreira, J, Bajenaru, Oa, Carciumaru, N, Bulboaca, Ac, Pascu, I, Simu, M, Calopa, M, FERNÁNDEZ GARCÍA JM, Kulisevsky, J, Linazasoro, C, Miquel, F, Posada, Ij, Martí, Mj, Burn, D, Macmahon, D, Barker, R, Allen, N, Barbour, P, Bertoni, J, Bharucha, K, Bose, S, Drasby, E, Elble, R, Elmer, L, Evans, B, Factor, S, Fernandez, H, Friedman, J, Hull, K, Golbe, L, Goudreau, J, Guttuso, T, Hassan, M, Hermanowicz, N, Houser, M, Hurtig, H, Isaacson, S, Jennings, D, Kompoliti, A, Morgan, J, Murphy, J, Nausieda, P, Pahwa, R, Parashos, S, O'Suilleabhain, P, Racette, B, Reich, S, Roberts, J, Rothstein, T, Sahay, A, SAINT HILAIRE, M, Schiess, M, Scott, B, Shahed, J, Simuni, T, Singer, C, Smith, R, Struck, L, Sutton, J, Swope, D, Tagliati, M, Tetrud, J, Togasaki, D, Watts, R., Olanow, C, Rascol, O, Hauser, R, Feigin, P, Jankovic, J, Lang, A, Langston, W, Melamed, E, Poewe, W, Stocchi, F, Tolosa, E, ADAGIO Study, I, Bueri, J, Garretto, N, Gershanik, O, Giannaula, R, Micheli, F, Wolf, E, Guttman, M, Hobson, D, Jog, M, King, D, Mendis, T, Miyasaki, J, Panisset, M, Pourcher, E, Rajput, A, Ranawaya, R, Tsui, J, Cesaro, P, Damier, P, Destee, A, Durif, F, Slaoui, T, Tison, F, Viallet, F, Deuschl, G, Gasser, T, Ludolph, A, Oehlwein, C, Przuntek, H, Reifschneider, G, Schnitzler, A, Trenkwalder, C, Bokor, M, Katona, A, Lajtos, J, Nikl, J, Takats, A, Valikovics, A, Badarny, S, Djaldetti, R, Giladi, N, Hassin, S, Rabey, J, Reches, A, Schwartz, M, Wirguin, I, Albanese, A, Bentivoglio, A, Bonuccelli, U, Calzetti, S, Comi, G, Curatola, L, Ferrarese, C, Lamberti, P, Marconi, R, Martignoni, E, Meco, G, Ruggieri, S, Bomhof, M, Hovestadt, A, Krul, J, Leenders, K, Cunha, L, Ferreira, J, Bajenaru, O, Carciumaru, N, Bulboaca, A, Pascu, I, Simu, M, Calopa, M, Fernández García, J, Kulisevsky, J, Linazasoro, C, Miquel, F, Posada, I, Martí, M, Burn, D, Macmahon, D, Barker, R, Allen, N, Barbour, P, Bertoni, J, Bharucha, K, Bose, S, Drasby, E, Elble, R, Elmer, L, Evans, B, Factor, S, Fernandez, H, Friedman, J, Hull, K, Golbe, L, Goudreau, J, Guttuso, T, Hassan, M, Hermanowicz, N, Houser, M, Hurtig, H, Isaacson, S, Jennings, D, Kompoliti, A, Morgan, J, Murphy, J, Nausieda, P, Pahwa, R, Parashos, S, O'Suilleabhain, P, Racette, B, Reich, S, Roberts, J, Rothstein, T, Sahay, A, Saint Hilaire, M, Schiess, M, Scott, B, Shahed, J, Simuni, T, Singer, C, Smith, R, Struck, L, Sutton, J, Swope, D, Tagliati, M, Tetrud, J, Togasaki, D, and Watts, R
Subjects: Adult, Male, medicine.medical_specialty, Monoamine Oxidase Inhibitors, Parkinson's disease, Neuroprotective Agent, Severe disease, Placebo, Severity of Illness Index, Placebo group, Drug Administration Schedule, Central nervous system disease, Double blind, chemistry.chemical_compound, Double-Blind Method, Severity of illness, Humans, Rasagiline, Medicine, Monoamine Oxidase Inhibitor, Aged, Dose-Response Relationship, Drug, business.industry, Indan, Parkinson Disease, General Medicine, Middle Aged, medicine.disease, Surgery, Neuroprotective Agents, chemistry, Research Design, Anesthesia, Indans, Female, business, Human
Abstract: BACKGROUND: A therapy that slows disease progression is the major unmet need in Parkinson's disease. METHODS: In this double-blind trial, we examined the possibility that rasagiline has disease-modifying effects in Parkinson's disease. A total of 1176 subjects with untreated Parkinson's disease were randomly assigned to receive rasagiline (at a dose of either 1 mg or 2 mg per day) for 72 weeks (the early-start group) or placebo for 36 weeks followed by rasagiline (at a dose of either 1 mg or 2 mg per day) for 36 weeks (the delayed-start group). To determine a positive result with either dose, the early-start treatment group had to meet each of three hierarchical end points of the primary analysis based on the Unified Parkinson's Disease Rating Scale (UPDRS, a 176-point scale, with higher numbers indicating more severe disease): superiority to placebo in the rate of change in the UPDRS score between weeks 12 and 36, superiority to delayed-start treatment in the change in the score between baseline and week 72, and noninferiority to delayed-start treatment in the rate of change in the score between weeks 48 and 72. RESULTS: Early-start treatment with rasagiline at a dose of 1 mg per day met all end points in the primary analysis: a smaller mean (+/-SE) increase (rate of worsening) in the UPDRS score between weeks 12 and 36 (0.09+/-0.02 points per week in the early-start group vs. 0.14+/-0.01 points per week in the placebo group, P=0.01), less worsening in the score between baseline and week 72 (2.82+/-0.53 points in the early-start group vs. 4.52+/-0.56 points in the delayed-start group, P=0.02), and noninferiority between the two groups with respect to the rate of change in the UPDRS score between weeks 48 and 72 (0.085+/-0.02 points per week in the early-start group vs. 0.085+/-0.02 points per week in the delayed-start group, P
Published: 2009

61. Mesure de la densité mimérale osseuse par absorptiométrie biphotonique

Author: Marchandise, X., Cortet, B., and Tison, F.
Published: 2000
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62. Journées d’enseignement supérieur de neurologie – Bordeaux 2018

Author: Tison, F., primary
Published: 2018
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63. Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

Author: Jansen, I. (Iris), Ye, H. (Hui), Heetveld, S. (Sasja), Lechler, M.C. (Marie C.), Michels, H. (Helen), Seinstra, R.I. (Renée I.), Lubbe, S.J. (Steven J.), Drouet, V. (Valérie), Lesage, S. (Suzanne), Majounie, E. (Elisa), Gibbs, J.R. (J.Raphael), Nalls, M.A. (Michael), Ryten, M. (Mina), Botia, J.A. (Juan A.), Vandrovcova, J. (Jana), Simón-Sánchez, J. (Javier), Castillo-Lizardo, M. (Melissa), Rizzu, P. (Patrizia), Blauwendraat, C. (Cornelis), Chouhan, A.K. (Amit K.), Li, Y. (Yarong), Yogi, P. (Puja), Amin, N. (Najaf), Duijn, C.M. (Cornelia) van, Morris, H.R. (Huw R.), Brice, A. (Alexis), Singleton, A. (Andrew), David, D.C. (Della C.), Nollen, E.A. (Ellen A.), Jain, A. (Ashok), Shulman, J.M., Heutink, P. (Peter), Hernandez, D.G. (Dena), Arepalli, S. (Sampath), Brooks, J. (Janet), Price, R. (Ryan), Nicolas, A. (Aude), Chong, S. (Sean), Cookson, M.R. (Mark), Dillman, A. (Allissa), Moore, M. (Matt), Traynor, B.J. (Bryan), Plagnol, V. (Vincent), Nicholas W Wood, Sheerin, U.-M. (Una-Marie), Jose M Bras, Charlesworth, K. (Kate), Gardner, M. (Mac), Guerreiro, R. (Rita), Trabzuni, D. (Danyah), Hardy, J. (John), Sharma, M., Saad, M. (Mohamad), Javier Simón-Sánchez, Schulte, C. (Claudia), Corvol, J.C. (Jean-Christophe), Dürr, A. (Alexandra), Vidailhet, M. (M.), Sveinbjörnsdóttir, S. (Sigurlaug), Barker, R.A. (Roger), Caroline H Williams-Gray, Ben-Shlomo, Y., Berendse, H.W. (Henk W.), Dijk, K.D. (Karin) van, Berg, D. (Daniela), Brockmann, K., Wurster, K.D. (Kathrin), Mätzler, W. (Walter), Gasser, T. (Thomas), Martinez, M. (Maria), Bie, R.M.A. (Rob) de, Biffi, A. (Alessandro), Velseboer, D. (Daan), Bloem, B.R. (Bastiaan), Post, B. (Bart), Wickremaratchi, M. (Mirdhu), Warrenburg, B. (Bart) van de, Bochdanovits, Z. (Zoltan), Bonin, M. (Malte) von, Pétursson, H. (Hjörvar), Riess, O. (Olaf), Burn, D.J. (David), Lubbe, S. (Steven), Cooper, J.M. (J Mark), McNeill, N.H. (Nathan), Schapira, A. (Anthony), Lungu, C. (Codrin), Chen, H. (Honglei), Dong, J. (Jing), Chinnery, P.F. (Patrick F.), Hudson, G. (Gavin), Clarke, C.E. (Carl E.), Moorby, C. (Catriona), Counsell, C. (Carl), Damier, P. (Philippe), Dartigues, J.-F., Deloukas, P. (Panagiotis), Gray, E. (Emma), Edkins, T. (Ted), Hunt, S.E. (Sarah E.), Potter, S.C. (Simon), Tashakkori-Ghanbaria, A. (Avazeh), Deuschl, G. (Günther), Lorenz, D. (Delia), Dexter, D.T. (David), Durif, F. (Frank), Evans, J. (Jonathan Mark), Langford, C. (Cordelia), Foltynie, T. (Thomas), Goate, A.M. (Alison), Harris, C. (Clare), Hilten, J.J. (Jacobus) van, Hofman, A. (Albert), Hollenbeck, J.R. (John R.), Holton, J.L. (Janice), Hu, M. (Michele), Huang, X. (Xiaohong), Illig, T. (Thomas), Jónsson, P.V. (Pálmi), Lambert, J.-C., O'Sullivan, S.S. (Sean), Revesz, T. (Tamas), Shaw, K. (Karen), Lees, A.J. (Andrew), Lichtner, P. (Peter), Limousin, P. (Patricia), Lopez, G., Escott-Price, V. (Valentina), Pearson, J. (Justin), Williams, N. (Nigel), Mudanohwo, E. (Ese), Perlmutter, J.S. (Joel), Pollak, P. (Pierre), Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Sawcer, S.J. (Stephen), Scheffer, H. (Hans), Shoulson, I. (Ira), Shulman, L. (Lee), Smith, C. (Colin), Walker, R. (Robert), Spencer, C.C.A. (Chris C.), Strange, A. (Amy), Stefansson, H. (Hreinn), Bettella, F. (Francesco), Zwart, J-A. (John-Anker), Stockton, J.D. (Joanna D.), Talbot, D., Tanner, C.M. (Carlie), Tison, F. (François), Winder-Rhodes, S. (Sophie), Bhatia, K.P. (Kailash), Jansen, I. (Iris), Ye, H. (Hui), Heetveld, S. (Sasja), Lechler, M.C. (Marie C.), Michels, H. (Helen), Seinstra, R.I. (Renée I.), Lubbe, S.J. (Steven J.), Drouet, V. (Valérie), Lesage, S. (Suzanne), Majounie, E. (Elisa), Gibbs, J.R. (J.Raphael), Nalls, M.A. (Michael), Ryten, M. (Mina), Botia, J.A. (Juan A.), Vandrovcova, J. (Jana), Simón-Sánchez, J. (Javier), Castillo-Lizardo, M. (Melissa), Rizzu, P. (Patrizia), Blauwendraat, C. (Cornelis), Chouhan, A.K. (Amit K.), Li, Y. (Yarong), Yogi, P. (Puja), Amin, N. (Najaf), Duijn, C.M. (Cornelia) van, Morris, H.R. (Huw R.), Brice, A. (Alexis), Singleton, A. (Andrew), David, D.C. (Della C.), Nollen, E.A. (Ellen A.), Jain, A. (Ashok), Shulman, J.M., Heutink, P. (Peter), Hernandez, D.G. (Dena), Arepalli, S. (Sampath), Brooks, J. (Janet), Price, R. (Ryan), Nicolas, A. (Aude), Chong, S. (Sean), Cookson, M.R. (Mark), Dillman, A. (Allissa), Moore, M. (Matt), Traynor, B.J. (Bryan), Plagnol, V. (Vincent), Nicholas W Wood, Sheerin, U.-M. (Una-Marie), Jose M Bras, Charlesworth, K. (Kate), Gardner, M. (Mac), Guerreiro, R. (Rita), Trabzuni, D. (Danyah), Hardy, J. (John), Sharma, M., Saad, M. (Mohamad), Javier Simón-Sánchez, Schulte, C. (Claudia), Corvol, J.C. (Jean-Christophe), Dürr, A. (Alexandra), Vidailhet, M. (M.), Sveinbjörnsdóttir, S. (Sigurlaug), Barker, R.A. (Roger), Caroline H Williams-Gray, Ben-Shlomo, Y., Berendse, H.W. (Henk W.), Dijk, K.D. (Karin) van, Berg, D. (Daniela), Brockmann, K., Wurster, K.D. (Kathrin), Mätzler, W. (Walter), Gasser, T. (Thomas), Martinez, M. (Maria), Bie, R.M.A. (Rob) de, Biffi, A. (Alessandro), Velseboer, D. (Daan), Bloem, B.R. (Bastiaan), Post, B. (Bart), Wickremaratchi, M. (Mirdhu), Warrenburg, B. (Bart) van de, Bochdanovits, Z. (Zoltan), Bonin, M. (Malte) von, Pétursson, H. (Hjörvar), Riess, O. (Olaf), Burn, D.J. (David), Lubbe, S. (Steven), Cooper, J.M. (J Mark), McNeill, N.H. (Nathan), Schapira, A. (Anthony), Lungu, C. (Codrin), Chen, H. (Honglei), Dong, J. (Jing), Chinnery, P.F. (Patrick F.), Hudson, G. (Gavin), Clarke, C.E. (Carl E.), Moorby, C. (Catriona), Counsell, C. (Carl), Damier, P. (Philippe), Dartigues, J.-F., Deloukas, P. (Panagiotis), Gray, E. (Emma), Edkins, T. (Ted), Hunt, S.E. (Sarah E.), Potter, S.C. (Simon), Tashakkori-Ghanbaria, A. (Avazeh), Deuschl, G. (Günther), Lorenz, D. (Delia), Dexter, D.T. (David), Durif, F. (Frank), Evans, J. (Jonathan Mark), Langford, C. (Cordelia), Foltynie, T. (Thomas), Goate, A.M. (Alison), Harris, C. (Clare), Hilten, J.J. (Jacobus) van, Hofman, A. (Albert), Hollenbeck, J.R. (John R.), Holton, J.L. (Janice), Hu, M. (Michele), Huang, X. (Xiaohong), Illig, T. (Thomas), Jónsson, P.V. (Pálmi), Lambert, J.-C., O'Sullivan, S.S. (Sean), Revesz, T. (Tamas), Shaw, K. (Karen), Lees, A.J. (Andrew), Lichtner, P. (Peter), Limousin, P. (Patricia), Lopez, G., Escott-Price, V. (Valentina), Pearson, J. (Justin), Williams, N. (Nigel), Mudanohwo, E. (Ese), Perlmutter, J.S. (Joel), Pollak, P. (Pierre), Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Sawcer, S.J. (Stephen), Scheffer, H. (Hans), Shoulson, I. (Ira), Shulman, L. (Lee), Smith, C. (Colin), Walker, R. (Robert), Spencer, C.C.A. (Chris C.), Strange, A. (Amy), Stefansson, H. (Hreinn), Bettella, F. (Francesco), Zwart, J-A. (John-Anker), Stockton, J.D. (Joanna D.), Talbot, D., Tanner, C.M. (Carlie), Tison, F. (François), Winder-Rhodes, S. (Sophie), and Bhatia, K.P. (Kailash)
Abstract: Background: Whole-exome sequencing (WES) has been successful in identifying genes that cause familial Parkinson's disease (PD). However, until now this approach has not been deployed to study large cohorts of unrelated participants. To discover rare PD susceptibility variants, we performed WES in 1148 unrelated cases and 503 control participants. Candidate genes were subsequently validated for functions relevant to PD based on parallel RNA-interference (RNAi) screens in human cell culture and Drosophila and C. elegans models. Results: Assuming autosomal recessive inheritance, we identify 27 genes that have homozygous or compound heterozygous loss-of-function variants in PD cases. Definitive replication and confirmation of these findings were hindered by potential heterogeneity and by the rarity of the implicated alleles. We therefore looked for potential genetic interactions with established PD mechanisms. Following RNAi-mediated knockdown, 15 of the genes modulated mitochondrial dynamics in human neuronal cultures and four candidates enhanced α-synuclein-induced neurodegeneration in Drosophila. Based on complementary analyses in independent human datasets, five functionally validated genes-GPATCH2L, UHRF1BP1L, PTPRH, ARSB, and VPS13C-also showed evidence consistent with genetic replication. Conclusions: By integrating human genetic and functional evidence, we identify several PD susceptibility gene candidates for further investigation. Our approach highlights a powerful experimental strategy with broad applicability for future studies of disorders with complex genetic etiologies.
Published: 2017
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64. The chorea of McLeod syndrome

Author: Danek, A, Tison, F, Rubio, J, Oechsner, M, Kalckreuth, W, and Monaco, AP
Abstract: Among the movement disorders associated with acanthocytosis, McLeod syndrome (McKusick 314850) is the one that is best characterized on the molecular level. Its defining feature is low reactivity of Kell erythrocyte antigens. This is due to absence of membrane protein KX that forms a complex with the Kell protein. KX is coded for by the XK gene on the X-chromosome. We present six males (aged 29 to 60 years), with proven XK mutations, to discuss the chorea associated with McLeod syndrome. The movement disorder commonly develops in the fifth decade and is progressive. It affects the limbs, the trunk and the face. In addition to facial grimacing, involuntary vocalization can be present. In early stages there may only be some restlessness or slight involuntary distal movements of ankles and fingers. Lip-biting and facial tics seem more common in autosomal recessive choreoacanthocytosis linked to chromosome 9. This, together with the absence of dysphagia in McLeod syndrome, may help in differential diagnosis. Recent findings suggest a role for the endothelin system of the striatum in the pathogenesis of McLeod syndrome.
Published: 2016

65. 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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66. 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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67. Conditions d’utilisation en vie réelle du Pylera ® en France à partir des données de l’assurance maladie

Author: Blin, P., primary, Rouyer, M., additional, Guiard, E., additional, Zerbib, F., additional, Diquet, B., additional, Mégraud, F., additional, Tison, F., additional, Abouelfath, A., additional, Lassalle, R., additional, Droz-Perroteau, C., additional, and Moore, N., additional
Published: 2017
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68. Étude pharmacocinétique et de sécurité du Pylera ® en pratique courante en France : étude SAPHARY

Author: Blin, P., primary, Lelièvre, B., additional, Rouyer, M., additional, Zerbib, F., additional, Diquet, B., additional, Mégraud, F., additional, Tison, F., additional, Guiard, E., additional, Bignon, E., additional, Barbet, V., additional, Lassalle, R., additional, Droz-Perroteau, C., additional, and Moore, N., additional
Published: 2017
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69. Causal relation between a-synuclein gene duplication and familial Parkinson's disease

Author: Ibanez, P., Bonnet, A.-M., Debarges, B., Lohmann, E., Tison, F., Pollak, P., Agid, Y., Durr, A., and Brice, A.
Subjects: Parkinson's disease -- Causes of, Parkinson's disease -- Genetic aspects
Published: 2004

70. French consensus procedure for assessing cognitive function in Parkinson's disease

Author: Dujardin, K., Auzou, N., Lhommée, E., Czernecki, V., Dubois, B., Fradet, A., Maltete, D., Meyer, M., Pineau, F., Schmitt, E., Sellal, F., Tison, F., Vidal, T., Azulay, J.-P., Welter, M.-L., Corvol, J.-C., Durif, F., and Rascol, O.
Abstract: One of the objectives of the French expert centers for Parkinson's disease (NS-Park) network was to determine a consensus procedure for assessing cognitive function in patients with Parkinson's. This article presents this procedure and briefly describes the selected tests.
Published: 2024
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71. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Author: Lesage, S., Drouet, V., Majounie, E., Deramecourt, V., Jacoupy, M., Nicolas, A., Cormier-Dequaire, F., Hassoun, S.M., Pujol, C., Ciura, S., Erpapazoglou, Z., Usenko, T., Maurage, C.A., Sahbatou, M., Liebau, S., Ding, J., Bilgic, B., Emre, M., Erginel-Unaltuna, N., Guven, G., Tison, F., Tranchant, C., Vidailhet, M., Corvol, J.C., Krack, P., Leutenegger, A.L., Nalls, M.A., Hernandez, D.G., Heutink, P., Gibbs, J.R., Hardy, J., Wood, N.W., Gasser, T., Durr, A., Deleuze, J.F., Tazir, M., Destee, A., Lohmann, E., Kabashi, E., Singleton, A., Corti, O., Brice, A., Scheffer, H., Bloem, B.R., et al., Lesage, S., Drouet, V., Majounie, E., Deramecourt, V., Jacoupy, M., Nicolas, A., Cormier-Dequaire, F., Hassoun, S.M., Pujol, C., Ciura, S., Erpapazoglou, Z., Usenko, T., Maurage, C.A., Sahbatou, M., Liebau, S., Ding, J., Bilgic, B., Emre, M., Erginel-Unaltuna, N., Guven, G., Tison, F., Tranchant, C., Vidailhet, M., Corvol, J.C., Krack, P., Leutenegger, A.L., Nalls, M.A., Hernandez, D.G., Heutink, P., Gibbs, J.R., Hardy, J., Wood, N.W., Gasser, T., Durr, A., Deleuze, J.F., Tazir, M., Destee, A., Lohmann, E., Kabashi, E., Singleton, A., Corti, O., Brice, A., Scheffer, H., Bloem, B.R., and et al.
Abstract: Contains fulltext : 167923.pdf (publisher's version ) (Open Access), Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subjects, homozygous or compound heterozygous truncating mutations in vacuolar protein sorting 13C (VPS13C). VPS13C mutations are associated with a distinct form of early-onset parkinsonism characterized by rapid and severe disease progression and early cognitive decline; the pathological features were striking and reminiscent of diffuse Lewy body disease. In cell models, VPS13C partly localized to the outer membrane of mitochondria. Silencing of VPS13C was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of PARK2 in response to mitochondrial damage. This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression.
Published: 2016

72. Prevalence of multiple system atrophy

Author: Tison, F, Yekhlef, F, Chrysostome, V, and Sourgen, C
Subjects: Atrophy -- Varieties, Parkinson's disease -- Diagnosis
Published: 2000

73. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

Author: Nalls, M.A. Pankratz, N. Lill, C.M. Do, C.B. Hernandez, D.G. Saad, M. Destefano, A.L. Kara, E. Bras, J. Sharma, M. Schulte, C. Keller, M.F. Arepalli, S. Letson, C. Edsall, C. Stefansson, H. Liu, X. Pliner, H. Lee, J.H. Cheng, R. Ikram, M.A. Ioannidis, J.P.A. Hadjigeorgiou, G.M. Bis, J.C. Martinez, M. Perlmutter, J.S. Goate, A. Marder, K. Fiske, B. Sutherland, M. Xiromerisiou, G. Myers, R.H. Clark, L.N. Stefansson, K. Hardy, J.A. Heutink, P. Chen, H. Wood, N.W. Houlden, H. Payami, H. Brice, A. Scott, W.K. Gasser, T. Bertram, L. Eriksson, N. Foroud, T. Singleton, A.B. Plagnol, V. Sheerin, U.-M. Simón-Sánchez, J. Lesage, S. Sveinbjörnsdóttir, S. Barker, R. Ben-Shlomo, Y. Berendse, H.W. Berg, D. Bhatia, K. de Bie, R.M.A. Biffi, A. Bloem, B. Bochdanovits, Z. Bonin, M. Bras, J.M. Brockmann, K. Brooks, J. Burn, D.J. Charlesworth, G. Chinnery, P.F. Chong, S. Clarke, C.E. Cookson, M.R. Cooper, J.M. Corvol, J.C. Counsell, C. Damier, P. Dartigues, J.-F. Deloukas, P. Deuschl, G. Dexter, D.T. van Dijk, K.D. Dillman, A. Durif, F. Dürr, A. Edkins, S. Evans, J.R. Foltynie, T. Dong, J. Gardner, M. Gibbs, J.R. Gray, E. Guerreiro, R. Harris, C. van Hilten, J.J. Hofman, A. Hollenbeck, A. Holton, J. Hu, M. Huang, X. Wurster, I. Mätzler, W. Hudson, G. Hunt, S.E. Huttenlocher, J. Illig, T. Jónsson, P.V. Lambert, J.-C. Langford, C. Lees, A. Lichtner, P. Limousin, P. Lopez, G. Lorenz, D. McNeill, A. Moorby, C. Moore, M. Morris, H.R. Morrison, K.E. Mudanohwo, E. O’sullivan, S.S. Pearson, J. Pétursson, H. Pollak, P. Post, B. Potter, S. Ravina, B. Revesz, T. Riess, O. Rivadeneira, F. Rizzu, P. Ryten, M. Sawcer, S. Schapira, A. Scheffer, H. Shaw, K. Shoulson, I. Sidransky, E. Smith, C. Spencer, C.C.A. Stefánsson, H. Bettella, F. Stockton, J.D. Strange, A. Talbot, K. Tanner, C.M. Tashakkori-Ghanbaria, A. Tison, F. Trabzuni, D. Traynor, B.J. Uitterlinden, A.G. Velseboer, D. Vidailhet, M. Walker, R. van de Warrenburg, B. Wickremaratchi, M. Williams, N. Williams-Gray, C.H. Winder-Rhodes, S. Stefánsson, K. Hardy, J. Factor, S. Higgins, D. Evans, S. Shill, H. Stacy, M. Danielson, J. Marlor, L. Williamson, K. Jankovic, J. Hunter, C. Simon, D. Ryan, P. Scollins, L. Saunders-Pullman, R. Boyar, K. Costan-Toth, C. Ohmann, E. Sudarsky, L. Joubert, C. Friedman, J. Chou, K. Fernandez, H. Lannon, M. Galvez-Jimenez, N. Podichetty, A. Thompson, K. Lewitt, P. Deangelis, M. O'brien, C. Seeberger, L. Dingmann, C. Judd, D. Marder, K. Fraser, J. Harris, J. Bertoni, J. Peterson, C. Rezak, M. Medalle, G. Chouinard, S. Panisset, M. Hall, J. Poiffaut, H. Calabrese, V. Roberge, P. Wojcieszek, J. Belden, J. Jennings, D. Marek, K. Mendick, S. Reich, S. Dunlop, B. Jog, M. Horn, C. Uitti, R. Turk, M. Ajax, T. Mannetter, J. Sethi, K. Carpenter, J. Dill, B. Hatch, L. Ligon, K. Narayan, S. Blindauer, K. Abou-Samra, K. Petit, J. Elmer, L. Aiken, E. Davis, K. Schell, C. Wilson, S. Velickovic, M. Koller, W. Phipps, S. Feigin, A. Gordon, M. Hamann, J. Licari, E. Marotta-Kollarus, M. Shannon, B. Winnick, R. Simuni, T. Videnovic, A. Kaczmarek, A. Williams, K. Wolff, M. Rao, J. Cook, M. Fernandez, M. Kostyk, S. Hubble, J. Campbell, A. Reider, C. Seward, A. Camicioli, R. Carter, J. Nutt, J. Andrews, P. Morehouse, S. Stone, C. Mendis, T. Grimes, D. Alcorn-Costa, C. Gray, P. Haas, K. Vendette, J. Sutton, J. Hutchinson, B. Young, J. Rajput, A. Klassen, L. Shirley, T. Manyam, B. Simpson, P. Whetteckey, J. Wulbrecht, B. Truong, D. Pathak, M. Frei, K. Luong, N. Tra, T. Tran, A. Vo, J. Lang, A. Kleiner-Fisman, G. Nieves, A. Johnston, L. So, J. Podskalny, G. Giffin, L. Atchison, P. Allen, C. Martin, W. Wieler, M. Suchowersky, O. Furtado, S. Klimek, M. Hermanowicz, N. Niswonger, S. Shults, C. Fontaine, D. Aminoff, M. Christine, C. Diminno, M. Hevezi, J. Dalvi, A. Kang, U. Richman, J. Uy, S. Sahay, A. Gartner, M. Schwieterman, D. Hall, D. Leehey, M. Culver, S. Derian, T. Demarcaida, T. Thurlow, S. Rodnitzky, R. Dobson, J. Lyons, K. Pahwa, R. Gales, T. Thomas, S. Shulman, L. Weiner, W. Dustin, K. Singer, C. Zelaya, L. Tuite, P. Hagen, V. Rolandelli, S. Schacherer, R. Kosowicz, J. Gordon, P. Werner, J. Serrano, C. Roque, S. Kurlan, R. Berry, D. Gardiner, I. Hauser, R. Sanchez-Ramos, J. Zesiewicz, T. Delgado, H. Price, K. Rodriguez, P. Wolfrath, S. Pfeiffer, R. Davis, L. Pfeiffer, B. Dewey, R. Hayward, B. Johnson, A. Meacham, M. Estes, B. Walker, F. Hunt, V. O'neill, C. Racette, B. Swisher, L. Dijamco, C. Conley, E.D. Dorfman, E. Tung, J.Y. Hinds, D.A. Mountain, J.L. Wojcicki, A. Lew, M. Klein, C. Golbe, L. Growdon, J. Wooten, G.F. Watts, R. Guttman, M. Goldwurm, S. Saint-Hilaire, M.H. Baker, K. Litvan, I. Nicholson, G. Nance, M. Drasby, E. Isaacson, S. Burn, D. Pramstaller, P. Al-Hinti, J. Moller, A. Sherman, S. Roxburgh, R. Slevin, J. Perlmutter, J. Mark, M.H. Huggins, N. Pezzoli, G. Massood, T. Itin, I. Corbett, A. Chinnery, P. Ostergaard, K. Snow, B. Cambi, F. Kay, D. Samii, A. Agarwal, P. Roberts, J.W. Higgins, D.S. Molho, E. Rosen, A. Montimurro, J. Martinez, E. Griffith, A. Kusel, V. Yearout, D. Factor, S. Zabetian, C. Clark, L.N. Liu, X. Lee, J.H. Cheng Taub, R. Louis, E.D. Cote, L.J. Waters, C. Ford, B. Fahn, S. Vance, J.M. Beecham, G.W. Martin, E.R. Nuytemans, K. Pericak-Vance, M.A. Haines, J.L. Destefano, A. Seshadri, S. Choi, S.H. Frank, S. Bis, J.C. Psaty, B.M. Rice, K. Longstreth, W.T., Jr. Ton, T.G.N. Jain, S. van Duijn, C.M. Uitterlinden, A.G. Verlinden, V.J. Koudstaal, P.J. Singleton, A. Cookson, M. Gibbs, J.R. Hernandez, D. Nalls, M. Zonderman, A. Ferrucci, L. Johnson, R. Longo, D. O'brien, R. Traynor, B. Troncoso, J. van der Brug, M. Zielke, R. Weale, M. Ramasamy, A. Dardiotis, E. Tsimourtou, V. Spanaki, C. Plaitakis, A. Bozi, M. Stefanis, L. Vassilatis, D. Koutsis, G. Panas, M. Hadjigeorgiou, G.M. Lunnon, K. Lupton, M. Powell, J. Parkkinen, L. Ansorge, O. International Parkinson's Disease Genomics Consortium (IPDGC) Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI) 23andMe GenePD NeuroGenetics Research Consortium (NGRC) Hussman Institute of Human Genomics (HIHG) The Ashkenazi Jewish Dataset Investigator Cohorts for Health Aging Research in Genetic Epidemiology (CHARGE) North American Brain Expression Consortium (NABEC) United Kingdom Brain Expression Consortium (UKBEC) Greek Parkinson's Disease Consortium Alzheimer Genetic Analysis Group
Abstract: We conducted a meta-analysis of Parkinson's disease genome-wide association studies using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty-six loci were identified as having genome-wide significant association; these and 6 additional previously reported loci were then tested in an independent set of 5,353 cases and 5,551 controls. Of the 32 tested SNPs, 24 replicated, including 6 newly identified loci. Conditional analyses within loci showed that four loci, including GBA, GAK-DGKQ, SNCA and the HLA region, contain a secondary independent risk variant. In total, we identified and replicated 28 independent risk variants for Parkinson's disease across 24 loci. Although the effect of each individual locus was small, risk profile analysis showed substantial cumulative risk in a comparison of the highest and lowest quintiles of genetic risk (odds ratio (OR) = 3.31, 95% confidence interval (CI) = 2.55-4.30; P = 2 × 10-16). We also show six risk loci associated with proximal gene expression or DNA methylation. © 2014 Nature America, Inc. All rights reserved.
Published: 2014

74. Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes

Author: Walker RH, Danek A, Dobson-Stone C, Guerrini R, Jung HH, Lafontaine AL, Rampoldi L, Tison F, Andermann E, Walker, Rh, Danek, A, Dobson-Stone, C, Guerrini, R, Jung, Hh, Lafontaine, Al, Rampoldi, L, Tison, F, and Andermann, E
Abstract: As with other neurodegenerative disorders, research into the group of diseases known under the umbrella term of "neuroacanthocytosis" has greatly benefited from the identification of causative genes. The distinct and unifying aspect of these disorders is the presence of thorny deformations of circulating erythrocytes. This may be due to abnormal properties of red cell membranes, which could lead to insights into mechanisms of neurodegeneration. Research approaches in this field, in addition to examining functions and protein interactions of the affected proteins with particular respect to neurons, have also drawn upon the expertise of hematologists and red cell membrane biologists. In this article, recent developments in the field are presented. (c) 2006 Movement Disorder Society
Published: 2006

75. 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

76. Inactivation atmosphérique des virus présents dans les eaux usées utilisées en irrigation : suivi en enceinte climatique dédiée

Author: Girardin, Guillaume, Bon, F., Renault, Pierre, Wortham, Henri, CAPOWIEZ, Line, Tison, F., Courault, Dominique, Environnement Méditerranéen et Modélisation des Agro-Hydrosystèmes (EMMAH), and Avignon Université (AU)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
Subjects: [SDU]Sciences of the Universe [physics], ComputingMilieux_MISCELLANEOUS
Abstract: National audience
Published: 2013

77. Caractérisation des chemins d’écoulements préférentiels dans un sol macroporeux par tomographie d’absorption des rayons X et traçage coloré

Author: Girardin, Guillaume, Bon, F., Courault, Dominique, Renault, Pierre, Wortham, Henri, CAPOWIEZ, Line, Tison, F., Environnement Méditerranéen et Modélisation des Agro-Hydrosystèmes (EMMAH), and Avignon Université (AU)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
Subjects: [SDU]Sciences of the Universe [physics], ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2013

78. Survival of Enteric Viruses emitted in the Atmosphere after irrigation by wastewater: experimental assessment in a Lab reactor

Author: Girardin, Guillaume, Bon, F., Courault, Dominique, Renault, Pierre, Wortham, Henri, CAPOWIEZ, Line, Tison, F., Environnement Méditerranéen et Modélisation des Agro-Hydrosystèmes (EMMAH), and Avignon Université (AU)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
Subjects: [SDU]Sciences of the Universe [physics], ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2013

79. A long-term follow-up of weight changes in subthalamic nucleus stimulated Parkinson's disease patients

Author: Foubert-Samier, A., Maurice, S., Hivert, S., Guelh, D., Rigalleau, V., Burbaud, P., Cuny, E., Meissner, W., and Tison, F.
Published: 2012
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80. An experimental setup in Avignon (South of France) for the multiscale study of preferential flow in soil and of groundwater recharge processes

Author: Chapelet, A., Debroux, M., Tison, F., Di Pietro, Liliana, Doussan, Claude, Joelson, Maminirina, Marc, Vincent, Ruy, S., Environnement Méditerranéen et Modélisation des Agro-Hydrosystèmes (EMMAH), Avignon Université (AU)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Unité Climat, Sol et Environnement (CSE), and Institut National de la Recherche Agronomique (INRA)
Subjects: [SDU]Sciences of the Universe [physics], ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2012

81. Identification of VPS35 mutations replicated in French families with Parkinson disease

Author: Lesage, S, Condroyer, C, Klebe, S, Honoré, A, Tison, F, Brefel-Courbon, C, Dürr, A, Brice, A, French Parkinson's Disease Genetics Study Group, INSERM UMR_S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), INSERM UMR_S9745, Service de Neurologie, Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux]-CHU Bordeaux [Bordeaux], Service Pharmacologie Clinique [CHU Toulouse], Pôle Santé publique et médecine publique [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), This project was supported by the National Research Funding Agency (ANR-08-NEUR-004-01) in the ERA-NET NEURON framework., for the French Parkinson's Disease Genetics Study Group, Lesage, Suzanne, Pollak, Pierre, Service de Pharmacologie Médicale et Clinique, CHU Toulouse [Toulouse]-Centre d'Investigation Clinique, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: Male, MESH: Vesicular Transport Proteins, DNA Mutational Analysis, Vesicular Transport Proteins, medicine.disease_cause, Bioinformatics, VPS35, 0302 clinical medicine, VPS35 Gene, Missense mutation, MESH: Genetic Variation, MESH: DNA Mutational Analysis, Vacuolar protein sorting, Genetics, MESH: Aged, 0303 health sciences, Mutation, MESH: Middle Aged, MESH: Genetic Testing, MESH: Polymorphism, Single Nucleotide, Genetic Carrier Screening, Parkinson Disease, Middle Aged, Polymorphism, Single Nucleotide/genetics, Genetic Variation/genetics, Mutation, Missense/genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, France, Adult, Mutation, Missense, MESH: Genetics, Population, Biology, Heterozygote Detection, Polymorphism, Single Nucleotide, DNA sequencing, Vesicular Transport Proteins/genetics, 03 medical and health sciences, medicine, Humans, Parkinson Disease/diagnosis/genetics, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Genetic Testing, Gene, Alleles, 030304 developmental biology, Aged, MESH: Mutation, Missense, MESH: Humans, MESH: Heterozygote Detection, MESH: Alleles, Genetic Variation, MESH: Adult, MESH: Haplotypes, medicine.disease, MESH: Male, ddc:616.8, MESH: France, Miller syndrome, Genetics, Population, Haplotypes, Neurology (clinical), MESH: Female, 030217 neurology & neurosurgery, MESH: Parkinson Disease
Abstract: International audience; Parkinson disease (PD) is a progressive neurodegenerative disorder that mainly affects the elderly. Recently, the groups of Vilariño-Güell (2011) and Zimprich (2011) simultaneously reported identification, using next generation sequencing technologies, of p.Asp620Asn mutations in a novel gene, VPS35, that segregated with autosomal dominant late-onset PD in two large families from Switzerland and Austria, respectively. Screening of the whole gene in additional PD families led to the identification of six more families with the VPS35 p.Asp620Asn mutation (mutation frequencies: 0.0009 and 0.002, respectively). Here we screened the entire VPS35 coding sequence in 246 families with autosomal dominant PD, mostly of French origin. We found the p.Asp620Asn mutation in three French families that was absent in 245 European controls. The mutation frequency, 0.012, is greater than in the previous studies. No other potentially pathogenic VPS35 variants were detected in any of the remaining index cases. The associated phenotype in five patients in the three French families with the VPS35 p.Asp620Asn mutation resembles that of typical, late-onset PD, with a wide range of ages at onset (38 to 67 years).
Published: 2012

82. 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

83. 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

84. A two-stage meta-analysis identifies several new loci for Parkinson's disease

Author: Plagnol, V., Nalls, M.A., Bras, J.M., Hernandez, D., Sharma, M., Sheerin, U.M., Saad, M., Simon-Sanchez, J., Schulte, C., Lesage, S., Sveinbjornsdottir, S., Amouyel, P., Arepalli, S., Band, G., Barker, R.A., Bellinguez, C., Ben-Shlomo, Y., Berendse, H.W., Berg, D., Bhatia, K.P., Bie, R.M. de, Biffi, A., Bloem, B.R., Bochdanovits, Z., Bonin, M., Brockmann, K., Brooks, J., Burn, D.J., Charlesworth, G., Chen, H., Chinnery, P.F., Chong, S., Clarke, C.E., Cookson, M.R., Cooper, J.M., Corvol, J.C., Counsell, J., Damier, P., Dartigues, J.F., Deloukas, P., Deuschl, G., Dexter, D.T., Dijk, K.D. van, Dillman, A., Durif, F., Durr, A., Edkins, S., Evans, J.R., Foltynie, T., Freeman, C., Gao, J., Gardner, M., Gibbs, J.R., Goate, A., Gray, E., Guerreiro, R., Gustafsson, O., Harris, C., Hellenthal, G., Hilten, J.J. van, Hofman, A., Hollenbeck, A., Holton, J.L., Hu, M., Huang, X., Huber, H, Hudson, G., Hunt, S.E., Huttenlocher, J., Illig, T., Jonsson, P.V., Langford, C., Lees, A.J., Lichtner, P., Limousin, P., Lopez, G., McNeill, A., Moorby, C., Moore, M., Morris, H.A., Morrison, K.E., Mudanohwo, E., O'Sullivan, S.S, Pearson, J., Pearson, R., Perlmutter, J., Petursson, H., Pirinen, M., Polnak, P., Post, B., Potter, S.C., Ravina, B., Revesz, T., Riess, O., Rivadeneira, F., Rizzu, P., Ryten, M., Sawcer, S.J., Schapira, A., Scheffer, H., Shaw, K., Shoulson, I., Sidransky, E., Silva, R. de, Smith, C., Spencer, C.C., Stefansson, H., Steinberg, S., Stockton, J.D., Strange, A., Su, Z., Talbot, K., Tanner, C.M., Tashakkori-Ghanbaria, A., Tison, F., Trabzuni, D., Traynor, B.J., Uitterlinden, A.G., Vandrovcova, J., Velseboer, D., Vidailhet, M., Vukcevic, D., Walker, R., Warrenburg, B.P.C. van de, Weale, M.E., Wickremaratchi, M., Williams, N., Williams-Gray, C.H., Winder-Rhodes, S., Stefansson, K., Martinez, M., Donnelly, P., Singleton, A.B., Hardy, J., Heutink, P., Brice, A., Gasser, T., and Wood, N.W.
Subjects: Functional Neurogenomics Human Movement & Fatigue [DCN 2], Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], Functional Neurogenomics [DCN 2]
Abstract: Contains fulltext : 97597.pdf (Publisher’s version ) (Open Access) A previous genome-wide association (GWA) meta-analysis of 12,386 PD cases and 21,026 controls conducted by the International Parkinson's Disease Genomics Consortium (IPDGC) discovered or confirmed 11 Parkinson's disease (PD) loci. This first analysis of the two-stage IPDGC study focused on the set of loci that passed genome-wide significance in the first stage GWA scan. However, the second stage genotyping array, the ImmunoChip, included a larger set of 1,920 SNPs selected on the basis of the GWA analysis. Here, we analyzed this set of 1,920 SNPs, and we identified five additional PD risk loci (combined p
Published: 2011

85. Does cognitive decline in Parkinson's disease start before diagnosis? A population-based study

Author: Foubert-Samier, A., primary, Le-Goff, M., additional, Helmer, C., additional, Jacqmin-Gadda, H., additional, Dartigues, F., additional, Amieva, H., additional, and Tison, F., additional
Published: 2015
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86. New insights into orthostatic hypotension in multiple system atrophy: a European multicentre cohort study

Author: Pavy-Le Traon, A, primary, Piedvache, A, additional, Perez-Lloret, S, additional, Calandra-Buonaura, G, additional, Cochen-De Cock, V, additional, Colosimo, C, additional, Cortelli, P, additional, Debs, R, additional, Duerr, S, additional, Fanciulli, A, additional, Foubert-Samier, A, additional, Gerdelat, A, additional, Gurevich, T, additional, Krismer, F, additional, Poewe, W, additional, Tison, F, additional, Tranchant, C, additional, Wenning, G, additional, Rascol, O, additional, and Meissner, WG, additional
Published: 2015
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87. Presentation, diagnosis, and management of multiple system atrophy in Europe:final analysis of the European multiple system atrophy registry

Author: Köllensperger, M, Geser, F, Ndayisaba, Jp, Boesch, S, Seppi, K, Ostergaard, K, Dupont, E, Cardozo, A, Tolosa, E, Abele, M, Klockgether, T, Yekhlef, F, Tison, F, Daniels, C, Deuschl, G, Coelho, M, Sampaio, C, Bozi, M, Quinn, N, Schrag, A, Mathias, Cj, Fowler, C, Nilsson, Cf, Widner, H, Schimke, N, Oertel, W, Del Sorbo, F, Albanese, A, Pellecchia, Maria Teresa, Barone, Paolo, Djaldetti, R, Colosimo, C, Meco, G, Gonzalez-Mandly, A, Berciano, J, Gurevich, T, Giladi, N, Galitzky, M, Rascol, O, Kamm, C, Gasser, T, Siebert, U, Poewe, W, and Wenning, Gk
Published: 2010

88. ON BEHALF OF THE EMSA‐SG. PRESENTATION, DIAGNOSIS, AND MANAGEMENT OF MULTIPLE SYSTEM ATROPHY IN EUROPE: FINAL ANALYSIS OF THE EUROPEAN MULTIPLE SYSTEM ATROPHY REGISTRY

Author: Köllensperger, M, Geser, F, Ndayisaba, Jp, Boesch, S, Seppi, K, Ostergaard, K, Dupont, E, Cardozo, A, Tolosa, E, Abele, M, Klockgether, T, Yekhlef, F, Tison, F, Daniels, C, Deuschl, G, Coelho, M, Sampaio, C, Bozi, M, Quinn, N, Schrag, A, Mathias, Cj, Fowler, C, Nilsson, Cf, Widner, H, Schimke, N, Oertel, W, DEL SORBO, F, Albanese, A, Pellecchia, Mt, Barone, P, Djaldetti, R, Colosimo, Carlo, Meco, Giuseppe, GONZALEZ MANDLY, A, Berciano, J, Gurevich, T, Giladi, N, Galitzky, M, Rascol, O, Kamm, C, Gasser, T, Siebert, U, Poewe, W, and Wenning, Gk
Published: 2010

89. 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

90. Étude pharmacocinétique et de sécurité du Pylera® en pratique courante en France : étude SAPHARY

Author: Blin, P., Lelièvre, B., Rouyer, M., Zerbib, F., Diquet, B., Mégraud, F., Tison, F., Guiard, E., Bignon, E., Barbet, V., Lassalle, R., Droz-Perroteau, C., and Moore, N.
Published: 2017
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91. Conditions d’utilisation en vie réelle du Pylera® en France à partir des données de l’assurance maladie

Author: Blin, P., Rouyer, M., Guiard, E., Zerbib, F., Diquet, B., Mégraud, F., Tison, F., Abouelfath, A., Lassalle, R., Droz-Perroteau, C., and Moore, N.
Published: 2017
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92. Activit� de l�Isoxyl sur Mycobacterium kansasii; Etudes in vitro et chez le cobaye pneumoconiotique

Author: Tacquet, A., primary, Devulder, B., additional, Tison, F., additional, and Martin, J. C., additional
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93. Stimulation cérébrale profonde : collaboration CHU-CHG mise en place d’un travail collaboratif entre Bayonne et Bordeaux

Author: Bannier, S., primary, Guehl, D., additional, Ellie, E., additional, Cuny, E., additional, Burbaud, P., additional, Tison, F., additional, and Meissner, W., additional
Published: 2014
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94. The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

Author: Klebe, S., Golmard, J.L., Nalls, M.A., Saad, M., Singleton, A.B., Bras, J.M., Hardy, J., Simon-Sanchez, J., Heutink, P., Kuhlenbaumer, G., Charfi, R., Klein, C., Hagenah, J., Gasser, T., Wurster, I., Lesage, S., Lorenz, D., Deuschl, G., Durif, F., Pollak, P., Damier, P., Tison, F., Durr, A., Amouyel, P., Lambert, J.C., Tzourio, C., Maubaret, C., Charbonnier-Beaupel, F., Tahiri, K., Vidailhet, M., Martinez, M., Brice, A., Corvol, J.C., Bloem, B.R., Post, B., Scheffer, H., Warrenburg, B.P.C. van de, et al., Klebe, S., Golmard, J.L., Nalls, M.A., Saad, M., Singleton, A.B., Bras, J.M., Hardy, J., Simon-Sanchez, J., Heutink, P., Kuhlenbaumer, G., Charfi, R., Klein, C., Hagenah, J., Gasser, T., Wurster, I., Lesage, S., Lorenz, D., Deuschl, G., Durif, F., Pollak, P., Damier, P., Tison, F., Durr, A., Amouyel, P., Lambert, J.C., Tzourio, C., Maubaret, C., Charbonnier-Beaupel, F., Tahiri, K., Vidailhet, M., Martinez, M., Brice, A., Corvol, J.C., Bloem, B.R., Post, B., Scheffer, H., Warrenburg, B.P.C. van de, and et al.
Abstract: Item does not contain fulltext, 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 polymorphism is not associated with PD in the Caucasian population but acts as a modifier of the AAO in PD with a sexual dimorphism: the Val allele is associated with a younger AAO in men with idiopathic PD.
Published: 2013

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

Author: Klebe, S, Golmard, JL, Nalls, MA, Saad, M, Singleton, AB, Bras, JM, Hardy, J, Simon-Sanchez, J, Heutink, P, Kuhlenbaumer, G, Charfi, R, Klein, C, Hagenah, J, Gasser, T, Wurster, I, Lesage, S, Lorenz, D, Deuschl, G, Durif, F, Pollak, P, Damier, P, Tison, F, Durr, A, Amouyel, P, Lambert, JC, Tzourio, C, Maubaret, C, Charbonnier-Beaupel, F, Tahiri, K (Khadija), Vidailhet, M, Martinez, M, Brice, A, Corvol, JC, Klebe, S, Golmard, JL, Nalls, MA, Saad, M, Singleton, AB, Bras, JM, Hardy, J, Simon-Sanchez, J, Heutink, P, Kuhlenbaumer, G, Charfi, R, Klein, C, Hagenah, J, Gasser, T, Wurster, I, Lesage, S, Lorenz, D, Deuschl, G, Durif, F, Pollak, P, Damier, P, Tison, F, Durr, A, Amouyel, P, Lambert, JC, Tzourio, C, Maubaret, C, Charbonnier-Beaupel, F, Tahiri, K (Khadija), Vidailhet, M, Martinez, M, Brice, A, and Corvol, JC
Published: 2013

96. The natural history of multiple system atrophy: a prospective European cohort study

Author: Wenning, Gk, Geser, F, Krismer, F, Seppi, K, Duerr, S, Boesch, S, Köllensperger, M, Goebel, G, Pfeiffer, Kp, Barone, P, Pellecchia, Mt, Quinn, Np, Koukouni, V, Fowler, Cj, Schrag, A, Mathias, Cj, Giladi, N, Gurevich, T, Dupont, E, Ostergaard, K, Nilsson, Cf, Widner, H, Oertel, W, Eggert, Km, Albanese, Alberto, Del Sorbo, Francesca, Tolosa, E, Cardozo, A, Deuschl, G, Hellriegel, H, Klockgether, T, Dodel, R, Sampaio, C, Coelho, M, Djaldetti, R, Melamed, E, Gasser, T, Kamm, C, Meco, G, Colosimo, C, Rascol, O, Meissner, Wg, Tison, F, Poewe, W., Albanese, Alberto (ORCID:0000-0002-5864-0006), Wenning, Gk, Geser, F, Krismer, F, Seppi, K, Duerr, S, Boesch, S, Köllensperger, M, Goebel, G, Pfeiffer, Kp, Barone, P, Pellecchia, Mt, Quinn, Np, Koukouni, V, Fowler, Cj, Schrag, A, Mathias, Cj, Giladi, N, Gurevich, T, Dupont, E, Ostergaard, K, Nilsson, Cf, Widner, H, Oertel, W, Eggert, Km, Albanese, Alberto, Del Sorbo, Francesca, Tolosa, E, Cardozo, A, Deuschl, G, Hellriegel, H, Klockgether, T, Dodel, R, Sampaio, C, Coelho, M, Djaldetti, R, Melamed, E, Gasser, T, Kamm, C, Meco, G, Colosimo, C, Rascol, O, Meissner, Wg, Tison, F, Poewe, W., and Albanese, Alberto (ORCID:0000-0002-5864-0006)
Abstract: Multiple system atrophy (MSA) is a fatal and still poorly understood degenerative movement disorder that is characterised by autonomic failure, cerebellar ataxia, and parkinsonism in various combinations. Here we present the final analysis of a prospective multicentre study by the European MSA Study Group to investigate the natural history of MSA.
Published: 2013

97. Standard strategies for diagnosis and treatment of patients with newly diagnosed Parkinson disease: FRANCE

Author: Tison, F., primary and Meissner, W. G., additional
Published: 2013
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98. Age-related motor dysfunction and neuropathology in a transgenic mouse model of multiple system atrophy

Author: Fernagut, P.O., primary, Meissner, W.G., additional, Biran, M., additional, Fantin, M., additional, Bassil, F., additional, Franconi, J.M., additional, and Tison, F., additional
Published: 2013
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99. Burden of L-Dopa-Induced Dyskinesia in Parkinson’s Disease Patients (PD-LID) in France – the Lidia Study Economic Analysis (Levodopa Induced Dyskinesia Impact Evaluation)

Author: Kryskowiak, P., primary, Viallet, F., additional, Brefel-Courbon, C., additional, Durif, F., additional, Ory-Magne, F., additional, Tison, F., additional, Bourdeix, I., additional, Rérat, K., additional, and Willemin, L., additional
Published: 2013
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100. Validation of the French language version of the Parkinson's Disease Questionnaire - PDQ-39

Author: Auquier, P, Sapin, C, Ziegler, M, Tison, F, Destée, A, Dubois, B, Allicar, M, Thibault, J, Jenkinson, C, and Peto, V
Abstract: After Alzheimer's disease, Parkinson's disease (PD) is the second most frequent degenerative disease of the central nervous system. The consequences of PD at the functional, social and emotional levels warrant a better understanding the patient's perceptions as measured using a specific instrument rather than restricting the medical approach to the clinical evaluation of the motor component. In 1996, we began implementation of a project to transculturally validate the single specific instrument that had been published and was available at that time: PDQ-39. The scale consists in a 39-item questionnaire enabling determination of an overall quality-of-life score and scores for 8 specific dimensions: mobility, activities of daily living, emotional well-being, stigma, social support, cognitions, communication and bodily discomfort. Eighty-nine patients taking part in an open-label study of the safety of a combination of pergolide and dopa therapy were included and followed up on D15 and after 8 weeks. The process of "Forward-Backward" translation, conducted in close liaison with the authors, enabled semantic and linguistic validation of the French language version. The content was validated by PD experts. At baseline, the patients presented quality-of-life scores that were particularly impaired for the dimensions exploring Mobility, Emotional well-being and Bodily discomfort. The main metric properties of the scale were confirmed. The PDQ-39 scores were closely correlated with the related concepts investigated by generic scale, SF-36. The PDQ-39 scores were correlated with the "Mental and Mood Status", "Everyday Activities" and "Motor Status" dimensions determined by the UPDRS. The reliability, expressed by Cronbach coefficients alpha, showed strong consistency of the instrument, very similar to the data for the original version. In contrast to what was observed with SF-36, the scale was particularly sensitive to clinical changes. The initial results make PDQ-39 a precious tool for the optimization of management of patients presenting with PD.
Published: 2002

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