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1. PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability

Author

Fevga, Christina, Tesson, Christelle, Carreras Mascaro, Ana, Courtin, Thomas, Van Coller, Riaan, Sakka, Salma, Ferraro, Federico, Farhat, Nouha, Bardien, Soraya, Damak, Mariem, Carr, Jonathan, Ferrien, Melanie, Boumeester, Valerie, Hundscheid, Jasmijn, Grillenzoni, Nicola, Kessissoglou, Irini A., Kuipers, Demy J.S., Quadri, Marialuisa, Agid, Yves, Anheim, Mathieu, Borg, Michel, Brice, Alexis, Broussolle, Emmanuel, Corvol, Jean Christophe, Damier, Philippe, Defebvre, Luc, Dürr, Alexandra, Durif, Franck, Houeto, Jean Luc, Krack, Paul, Klebe, Stephan, Lesage, Suzanne, Lohmann, Ebba, Martinez, Maria, Mangone, Graziella, Mariani, Louise Laure, Pollak, Pierre, Rascol, Olivier, Tison, François, Tranchant, Christine, Verin, Marc, Viallet, François, Vidailhet, Marie, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Lu, Bedia Marangozog, Benmahdjoub, Mustapha, Arezki, Mohammed, Bouchetara, Sofiane A., Benhassine, Traki, Tazir, Meriem, Djebara, Mouna Ben, Gouider, Riadh, Romdhan, Sawssan Ben, Mhiri, Chokri, Bouhouche, Ahmed, Bonifati, Vincenzo, Mandemakers, Wim, Kievit, Anneke J.A., Boon, Agnita J.W., Ferreira, Joaquim J., Guedes, Leonor Correia, Hanagasi, Hasmet A., Tufekcioglu, Zeynep, Elibol, Bulent, Dog.u, Okan, Gultekin, Murat, Chien, Hsin F., Barbosa, Egberto, Jardim, Laura Bannach, Rieder, Carlos R.M., Chang, Hsiu Chen, Lu, Chin Song, Wu-Chou, Yah Huei, Yeh, Tu Hsueh, Lopiano, Leonardo, Tassorelli, Cristina, Pacchetti, Claudio, Comi, Cristoforo, Raudino, Francesco, Bertolasi, Laura, Tinazzi, Michele, Bonizzato, Alberto, Ferracci, Carlo, Marconi, Roberto, Guidi, Marco, Onofrj, Marco, Thomas, Astrid, Vanacore, Nicola, Meco, Giuseppe, Fabrizio, Edito, Fabbrini, Giovanni, Berardelli, Alfredo, Stocchi, Fabrizio, Vacca, Laura, Barone, Paolo, Picillo, Marina, De Michele, Giuseppe, Criscuolo, Chiara, De Mari, Michele, Dell'aquila, Claudia, Iliceto, Giovanni, Toni, Vincenzo, Trianni, Giorgio, Saddi, Valeria, Cossu, Gianni, Melis, Maurizio, Hassan, Bassem A., Breedveld, Guido J., Erasmus University Medical Center [Rotterdam] (Erasmus MC), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique médicale [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), Faculty of Health Sciences [Pretoria], University of Pretoria [South Africa], Hopital Habib Bourguiba - Habib Bourguiba Hospital [Sfax], Stellenbosch University, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Motivation, cerveau et comportement = Motivation, Brain and Behavior [ICM Paris] (MBB), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Tesson, Christelle, Clinical Genetics, and Neurology

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, intellectual disability, PTPA, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], PPP2R4, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, parkinsonism, PP2A
Abstract

The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is involved in a number of signalling pathways and functions, including the regulation of crucial proteins for neurodegeneration, such as alpha-synuclein, tau and LRRK2. Here, we report the identification of variants in the PTPA/PPP2R4 gene, encoding a major PP2A activator, in two families with early-onset parkinsonism and intellectual disability. We carried out clinical studies and genetic analyses, including genome-wide linkage analysis, whole-exome sequencing, and Sanger sequencing of candidate variants. We next performed functional studies on the disease-associated variants in cultured cells and knock-down of ptpa in Drosophila melanogaster. We first identified a homozygous PTPA variant, c.893T>G (p.Met298Arg), in patients from a South African family with early-onset parkinsonism and intellectual disability. Screening of a large series of additional families yielded a second homozygous variant, c.512C>A (p.Ala171Asp), in a Libyan family with a similar phenotype. Both variants co-segregate with disease in the respective families. The affected subjects display juvenile-onset parkinsonism and intellectual disability. The motor symptoms were responsive to treatment with levodopa and deep brain stimulation of the subthalamic nucleus. In overexpression studies, both the PTPA p.Ala171Asp and p.Met298Arg variants were associated with decreased PTPA RNA stability and decreased PTPA protein levels; the p.Ala171Asp variant additionally displayed decreased PTPA protein stability. Crucially, expression of both variants was associated with decreased PP2A complex levels and impaired PP2A phosphatase activation. PTPA orthologue knock-down in Drosophila neurons induced a significant impairment of locomotion in the climbing test. This defect was age-dependent and fully reversed by L-DOPA treatment. We conclude that bi-allelic missense PTPA variants associated with impaired activation of the PP2A phosphatase cause autosomal recessive early-onset parkinsonism with intellectual disability. Our findings might also provide new insights for understanding the role of the PP2A complex in the pathogenesis of more common forms of neurodegeneration.

Published
2023

2. Natalizumab treatment shows low cumulative probabilities of confirmed disability worsening to EDSS milestones in the long-term setting

Author

Correale, Jorge, Caride, Alejandro, Deri, Norma H., Ballario, Carlos, Broadley, Simon, Kneebone, Chris, Barnett, Michael, Pollard, John, Hodgkinson, Suzanne, Kermode, Allan, Macdonell, Richard, King, John, Butzkueven, Helmut, Lechner-Scott, Jeannette, Saines, Noel, Slee, Mark, Plummer, Chris, Willekens, Barbara, Vanopdenbosch, Ludo, Belachew, Shibeshih, Phan-Ba, Rémy, Delvaux, Valérie, Bissay, Veronique, Debruyne, Jan, Decoo, Danny, Crols, Roeland, Symons, Anoek, Nagels, Guy, Van Pesch, Vincent, Sindic, Christian, Dubois, Benedicte, Medaer, Robert, D'Hooghe, Marie, Guillaume, Daniel, De Smet, Eric, Seeldrayers, Pierrette, Lysandropoulos, Andreas, Vokaer, Mathieu, Geens, Karine, Willems, Christina, Denayer, Pierre, Bureau, Michel, Retif, Cecile, Dupuis, Michel, Bouquiaux, Olivier, Vanderdonckt, Patrick, van Landegem, William, Caekebeke, Jo, Van Ingelghem, Erwin, Peeters, Katelijne, Gerard, Pascale, de Noordhout, Alain Maertens, Desfontaines, Philippe, Urbain, Etienne, Declercq, Inge, Van Wijmeersch, Bart, Vanroose, Erwin, Wibail, Alain, Barthomolé, Emmanuel, Ursell, Melanie, Sweet, Margaret Elizabeth, Howse, David, Jichici, Draga, Shawush, Melad, Namaka, Mike, Traboulsee, Anthony, Hashimoto, Stan, Lo, Raymond, Marchetti, Paul, Lapierre, Yves, Jacques, Francois, MacLean, Gregg, Bhan, Virender, Duquette, Pierre, Stewart, Bradley, Paulseth, John, Kremenchutzky, Marcelo, Vorobeychik, Galina, O'Connor, Paul, Grand'Maison, François, Havrdova, Eva, Meluzinová, Eva, Valis, Martin, Talab, Radomír, Stourac, Pavel, Zapletalová, Olga, Dufek, Michal, Sládková, Vladimíra, Novotna, Alena, Vancurová, Romana, Lhotaková, Libuse, Fiedler, Jiri, Vachova, Marta, Dolezil, David, Stetkarova, Ivana, Rehankova, Adela, Psenica, Petr, Ulehlova, Veronika, Feketova, Sona, Skoda, Ondrej, Färkkilä, Markus, Taneli, Sarasoja, Koivisto, Keijo, Seppä, Juha Matti, Airas, Laura, Elovaara, Irina, Hartikainen, Päivi, Pirttila, Tuula, Louchart, Pierre, Ille, Olivier, Thenint, Jean philippe, Godet, Etienne, Vioud, Marcel Maillet, Colamarino, Renato, Gugenheim, Michel, Grimaud, Jerome, Kopf, Audrey, Billy, Christophe, Huttin, Bernard, Borsotti, Jean paul, Devos, Philippe, Kendjuo, Jean bertin N, Verier, Albert, Chapuis, Stephane, Daluzeau, Nathalie, Angibaud, Gilles, Uriot, Marie-Sylvie Artaud, Ziegler, François, Sellal, François, Moulignier, Antoine, Lavenu, Isabelle, Ismail, Samir, Devy, Richard, Suceveanu, Manuel, Wagner, Marc, Marcel, Sebastien, Derouiche, Faycal, Mostoufizadehghalamfarsa, Sohrab, Delalande, Sophie, Ruggieri, Irene, Van Nieuwenhuyse, Catherine Bossu, Nifle, Chantal, Ondze, Basile, Vasilescu, Carmen Gurau, Vongsouthi, Cyrille, Coustans, Marc, Anne, Olivier, Amevigbe, Josephine, Servan, Jerome, Merienne, Marc, Eck, Philippe, Berroir, Stephane, Busson, Philippe, Barroso, Bruno, Larrieu, Jean-Marc, Giendaj, Catherine Louvet, Malkoun, Imad, Hautecoeur, Patrick, Kwiatkowski, Arnaud, Pouliquen, Andre, Garrigues, Guillaume, Delerue, Olivier, Giraud, Pierric, Gere, Julien, Vaunaize, Jean, Dereeper, Olivier, Seiller, Nicolas, Alsassa, Roger, Vlaicu, Mihaela, Neuville, Veronique, Faucheux, Jean Marc, Bernady, Patricia, Fanjaud, Guy, Viallet, François, Schroeter, Michael, Schlemilch-Paschen, Sylke, Lange, Thomas, Bohr, Kin-Arno, Jendroska, Klaus, Rehkopf, Elisabeth, Bergmann, Arnfin, Kleinschnitz, Christoph, Postert, Thomas, Scholz, Peter, Mauz, Uwe, Stratmann, Hubert, Siefjediers, Veneta, Prantl, Martin, Gehring, Klaus, Zellner, Ruth, Junge, Kathrin, Zellner, Anton, Bacay, Valerina, Schlegel, Eugen, Polzer, Udo, Strauss, Erik, Link, Andreas, Stenzel, Christoph, Freidel, Matthias, Drews, Joachim, Neudert, Christian, Schmitz, Frank, Jaeger, Joachim, Masri, Said, Heuberger, Wolfgang, Trausch, Beate, Ruhnke, Oliver, Scarel, Serena, Bach, Kathlen, Ernst, Michael, Landefeld, Harald, Richter, Nils, Schmidt, Stephan, Krause, Michaela, Dressel, Alezander, Ruth, Roland, Anvari, Kerstin, Gossling, Jens, Schenk, Christoph, Tiedge, Oliver, Bode, Lutz, Eder, Hans-Thomas, Pfeffer, Oliver, Krug, Reinhard, Lassek, Christoph, Fleischer, Eberhard, Meuth, Sven, Klotz, Luisa Hildegard, Peglau, Ines, Kukowski, Borries, Herting, Birgit, Guthke, Kersten, Schierenbeck, Jurgen, Brockmeier, Bernd, Albrecht, Holger, Wuttke, Matthias, Augspach-Hofmann, Regine, Gunther, Stefan, Redbrake, Martin, Franke, Christian, Buchner, Klaus, Gratz, Thomas, Horn, Rolf, Doemges, Frank, Schreiber, Martin, Brosch, Thomas, Horn, Markus, Kittlitz, Matthias, Vulturius, Gabriele, Hinse, Paul, Malessa, Rolf, Wiehler, Stephan, Katsarava, Zaza, Kastrup, Oliver, Kausch, Ulrich, Gullekes, Martin, Fickinger, Markus, Wenzel, Wilhelm, Botefur, Ingolf C., Reifschneider, Gerd, Rauer, Sebastian, Lang, Michael, Harms, Lutz, Eckhardt, Ulrich, Cursiefen, Simone, Linker, Ralf, Angstwurm, Klemens, Haas, Judith, Schuetze, Ivo, Rohm, Eva, Stienker-Fisse, H., Sailer, Michael, Bohringer, Johannes, Maurer, Mathias, Bause, Eberhard, Wersching, Ronald, Dachsel, Reinhardt, Domke, Sylke, Hoffman, Frank, Tackenberg, Bjorn, Roch, Kerstin, Ziebold, Uwe, Kallmann, Boris, Buehler, Bernhard, Faiss, Judith, Faiss, Juergen, Schimrigk, Sebastian, Menges, Christian, Knop, Karl Christian, Koehler, Wolfgang, Siever, Arno, Bufler, Johannes, Gramsl, Georg, Kuhnler, Benedicta, Maschke, Matthias, Stogbauer, Florian, Staude, Lisa, Bethke, Florian, Bitsch, Andreas, Harmjanz, Arndt D., Windsheimer, Jorg, Kieseier, Bernd C., Berkenfeld, Ralf, Tumani, Hayrettin, Kirsch, Michael, Wildemann, Brigitte, Daniels, Regina, Gottwald, Klaus, Elias, Wolfgang-Gerhard, Hoffmann, Olaf, Schwab, Matthias, Pilz, Christopher, Klostermann, Fabian, Hellwig, Kerstin, Berthele, Achim, Bayas, Antonios, Molitor, Daniel, Grothe, Christoph, Wagner, Bert, Karageorgiou, Klimentini, Mitsikostas, Dimosthenis, Kodounis, Antonios, Plaitakis, Andreas, Papadimitriou, Alexandros, Grigoriadis, Nikolaos, Vlaikidis, Nikolaos, Koutlas, Evaggelos, Kyritsis, Athanassios, Papathanassopoulos, Panagiotis, Makris, Nikolaos, Tavernarakis, Antonios, Scarpini, Elio, Montanari, Enrico, Marrosu, Maria Giovanna, Trojano, Maria, Amato, Maria Pia, Rottoli, Mariarosa, Lugaresi, Alessandra, Florio, Ciro, Gasperini, Claudio, Grimaldi, Luigi, Millefiorini, Enrico, Koudriavtseva, Tatiana, Perla, Franco, Mantegazza, Renato, Bertolotto, Antonio, Ghezzi, Angelo, Aguilar, Sandra Quinones, Eisenberg, Eli Skromne, Lopez, Leondardo Llamas, Estudillo, Rocio Marquez, Schrijver, H.M., Wittebol, M.C., Baart, J.C., van Golde, A.E.L., Hengstman, G.J.D., Pop, P.H.M., Bos (Geldrop), M., Medaer, R., Schyns-Soeterboek, Angelique, van der Zwart, A., van Diepen, A.J.H., Verheul, G.A.M., Verhagen, W.I.M., Bos (Helmond), M., Witjes, R.J.G.M., Sinnige, L.G.F., van Munster, E.Th.L., Sanders, E.A.C.M., van Dijl, Ron, Hupperts, R.M.M., Frequin, S.T.F.M., Visser, L.H., Henselmans, J.M.L., Moll, J.W.B., Midgard, Rune, Myhr, Kjell Morten, Edland, Astrid, Telstad, Wenche, Hognestad, Tone, Lund, Christian, Hovdal, Harald, Kamaljit, Kaur, Schepel, Jan, Hogenesch, Roelfien Ida, Schüler, Stephan, Odeh, Francis, Alstadhaug, Karl B., Korsgaard, Olav, Farbu, Elisabeth, Ingvaldsen, Teis Barclay, Soares (SCO), Diana, Rente, José, Guerra, José Manuel Costa, Morganho, Armando, Leitão, António, de Sá, João, Sá, Maria José, Marques, Pinto, Veloso, Mário, Baptista, Miguel Viana, Szilasiová, Jarmila, Copikova-Cudrakova, Daniela, Prochazkova, Lubica, Klimová, Eleonóra, Donath, Vladimir, Brozman, Miroslav, Ramo, Cristina, Ruiz, Domingo Pérez, Hernández, Carmen Calles, Sola, María Eugenia Marzo, Moro, Roberto Suarez, Vidal, Jose Antonio, Rodríguez, Ana Belén Caminero, Ozaeta, Gisela Martin, Nadal, Jordi Batlle, Esquide, Amaya Alvarez de Arcaya, Urtaza, Javier Olascoaga, Martínez-Yélamos, Sergio, Arbizu, Txomin, Torrenta, Lluis Ramio i, Boggild, Mike, Wilson, Martin, Al-Araji, Adnan, Nicholas, Richard, Harrower, Timothy, Redmond, Ian, Wolf, Tilo, Osei-Bonsu, Michael, Mazibrada, Gordon, Rog, David, Cottrell, David, Constantinescu, Cris, Gray, Orla, Belhag, Mohamed, Shehu, Abdullah, Rashid, Waqar, Duddy, Martin, Kappos, Ludwig, Wiendl, Heinz, Spelman, Tim, Pellegrini, Fabio, Chen, Yi, Dong, Qunming, and Koendgen, Harold

Published
2018
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4. Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

Author

Depienne, Christel, primary, Ciura, Sorana, additional, Trouillard, Oriane, additional, Bouteiller, Delphine, additional, Leitão, Elsa, additional, Nava, Caroline, additional, Keren, Boris, additional, Marie, Yannick, additional, Guegan, Justine, additional, Forlani, Sylvie, additional, Brice, Alexis, additional, Anheim, Mathieu, additional, Agid, Yves, additional, Krack, Paul, additional, Damier, Philippe, additional, Viallet, François, additional, Houeto, Jean-Luc, additional, Durif, Franck, additional, Vidailhet, Marie, additional, Worbe, Yulia, additional, Roze, Emmanuel, additional, Kabashi, Edor, additional, and Hartmann, Andreas, additional

Published
2023
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6. Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

Author

Depienne, Christel, Ciura, Sorana, Trouillard, Oriane, Bouteiller, Delphine, Leitão, Elsa, Nava, Caroline, Keren, Boris, Marie, Yannick, Guegan, Justine, Forlani, Sylvie, Brice, Alexis, Anheim, Mathieu, Agid, Yves, Krack, Paul, Damier, Philippe, Viallet, François, Houeto, Jean-Luc, Durif, Franck, Vidailhet, Marie, Worbe, Yulia, Roze, Emmanuel, Kabashi, Edor, and Hartmann, Andreas

Subjects
610 Medicine & health
Abstract

[This corrects the article DOI: 10.5334/tohm.464.].

Published
2023

7. Fiche technique EVA

Author

Ghio, Alain, primary, Teston, Bernard, additional, Giovanni, Antoine, additional, Viallet, François, additional, Meynadier, Yohann, additional, and Demolin, Didier, additional

Published
2022
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8. 30 ans de recherches en phonétique clinique au LPL

Author

Ghio, Alain, primary, Meunier, Christine, additional, Petrone, Caterina, additional, Lalain, Muriel, additional, Meynadier, Yohann, additional, Marczyk, Anna, additional, Duez, Danielle, additional, Robert, Danièle, additional, Revis, Joana, additional, Viallet, François, additional, and Giovanni, Antoine, additional

Published
2022
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9. Analyse macroscopique des variations et modulations de F0 en lecture dans la maladie de Parkinson : données sur 320 locuteurs

Author

Vaysse, Robin, Ghio, Alain, Astésano, Corine, Farinas, Jérôme, Viallet, François, Équipe Structuration, Analyse et MOdélisation de documents Vidéo et Audio (IRIT-SAMoVA), Institut de recherche en informatique de Toulouse (IRIT), Université Toulouse 1 Capitole (UT1), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse 1 Capitole (UT1), Université Fédérale Toulouse Midi-Pyrénées, Laboratoire Parole et Langage (LPL), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Unité de Recherche Interdisciplinaire Octogone-Lordat (Octogone-Lordat), Université Toulouse - Jean Jaurès (UT2J), Association Française de la Communication Parlée, AFCP, ANR-18-CE45-0008,RUGBI,Recherche d'unités linguistiques pertinentes pour améliorer la mesure de l'intelligibilité de la parole altérée par des troubles de production pathologique(2018), Université Toulouse Capitole (UT Capitole), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Toulouse Mind & Brain Institut (TMBI), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université Toulouse Capitole (UT Capitole), Université de Toulouse (UT), and Université de Toulouse (UT)-Université de Toulouse (UT)

Subjects
Parkinson disease, dysphonia, dysarthria, [INFO.INFO-TS]Computer Science [cs]/Signal and Image Processing, [INFO.INFO-LG]Computer Science [cs]/Machine Learning [cs.LG], L-dopa, maladie de Parkinson, dysarthrie, fundamental frequency, dysphonie, [INFO.INFO-CL]Computer Science [cs]/Computation and Language [cs.CL], fréquence fondamentale
Abstract

National audience; People with Parkinson’s disease (PD) usually suffer from laryngeal disorders involving fundamental frequency (F0) abnormalities. Despite the large number of studies of F0 on PD patients, no global consensus exists regarding the effects of this disease. This study aims to clarify these effects using a large corpora of read speech containing 320 speakers. The results show an increase in F0 for PD men compared to controls. A decrease in F0 variations is also observed for the patients regardless of gender. We also studied the effect of dopaminergic treatment inducing a slight increase in F0 and reducing the loss of F0 modulations in severely affected patients. Patient age appears to have the same impact on F0 in PD and healthy individuals. Our results are in partial agreement with pathophysiological models and contradict in some aspects studies done on smaller corpora.; Les personnes atteintes de la maladie de Parkinson (MDP) souffrent généralement de troubles d'origine laryngée impliquant des anomalies de fréquence fondamentale (F0). Malgré le nombre important d'études de la F0 chez les patients MDP, aucun consensus global n'existe concernant les effets de cette maladie. Cette étude cherche à clarifier ces effets grâce à un large corpus de parole lue (320 locuteurs). Les résultats montrent une élévation de F0 chez les hommes MDP. Nous observons également une réduction des modulations de F0 chez les patients indépendamment du sexe. L'effet du traitement dopaminergique induit une légère augmentation de F0 et réduit la perte des modulations de F0 chez les patients sévèrement atteints. L'âge des patients semble avoir le même impact sur la F0 des personnes MDP et saines. Nos résultats sont en accord partiel avec les modèles physiopathologiques et contredisent sur certains aspects des études faites sur des corpora plus petits.

Published
2022

12. Effects of age, disease, and L-dopa on estimated subglottic pressure in parkinsonian dysarthria

Author

Ponchard, Clara, Ghio, Alain, Viallet, François, Crevier-Buchman, Lise, Demolin, Didier, Ponchard, Clara, LPP - Laboratoire de Phonétique et Phonologie - UMR 7018 (LPP), Université Sorbonne Nouvelle - Paris 3-Centre National de la Recherche Scientifique (CNRS), Laboratoire Parole et Langage (LPL), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier du Pays d'Aix, Hôpital Foch [Suresnes], and Université Paris-Saclay

Subjects
[SCCO.COMP] Cognitive science/Computer science, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, [SCCO.COMP]Cognitive science/Computer science, [SCCO.LING]Cognitive science/Linguistics, [SCCO.LING] Cognitive science/Linguistics
Abstract

International audience; Introduction Parkinson’s disease (PD) represents a specific disorder of the central nervous system, characterized by chronic dysfunction of the basal ganglia, which plays an essential role in controlling the execution of learned motor plans. If the motor expression of the symptoms involves mainly the limbs, the muscles involved in speech production are also subject to specific dysfunctions grouped under the term dysarthria (Pinto & Ghio, 2008). The main objective of our study is to compare the aerodynamic performances between healthy and pathological subjects in order to identify if the aerodynamic pa- rameters allow to characterize the parkinsonian speech and what are the parameters of variations (disease, age, sex, L-DOPA treatment).Methods Our corpus consists of 40 speakers (20 parkinsonian patients + 20 control subjects) recorded in the Neurology Department of the Centre Hospitalier du Pays d’Aix in Aix-en-Provence (Ghio et al., 2012). The speakers were native French-speaking women aged 40 to 90 years. There was no significant difference in age between the two groups. We analyzed subglottic pressure measurements estimated from the peak of intraoral pres- sure during the production of the consonant [p] as well as the pressure decay during the sentence "papa ne m’a pas parlé de beau papa". For Parkinsonian subjects, data were analyzed in the two pharmacological states: with L-DOPA (ON-DOPA) and with with- drawal (OFF-DOPA).Results & Discussion OFF-DOPA patients have a significantly lower subglottic pressure than controls showing that PD has an impact on the sound pressure level which is significantly lower. In ON-DOPA, the values are similar to those of the controls but only in subjects under 60 years old, after which the pressure is lower. Thus, L-DOPA treatment increases the sound pressure level in subjects under 60 years old but would not improve it consistently. The drop in pressure is greater in the OFF-DOPA condition, particularly at the end of production, indicating a lesser control of pneumo-phonic coordination.Older healthy subjects produce higher pressure levels than younger healthy subjects with a mean difference of 2 hPa. This increase may be due to two factors: (1) a decrease in lung elasticity that may result in an increase in the value of the pressure measured in the lung volume (Bouhuys, 1977), (2) the need for higher subglottic pressures due to changes in laryngeal airway resistance and vocal fold closure. This increase is not present in ON-DOPA subjects. In contrast, in OFF-DOPA there is an average increase of 0.8 hPa which suggests that people with PD are still able to compensate in vocal efficiency but at much lower levels than control subjects.

Published
2022

14. Hemiplegic Migraine Associated With PRRT2 Variations

Author

Riant, Florence, primary, Roos, Caroline, additional, Roubertie, Agathe, additional, Barbance, Cécile, additional, Hadjadj, Jessica, additional, Auvin, Stéphane, additional, Baille, Guillaume, additional, Beltramone, Marion, additional, Boulanger, Cécile, additional, Cahn, Alice, additional, Cata, Florina, additional, Cheuret, Emmanuel, additional, Cuvellier, Jean-Christophe, additional, Defo, Antoine, additional, Demarquay, Genevieve, additional, Donnet, Anne, additional, Gaillard, Nicolas, additional, Massardier, Evelyne, additional, Guy, Nathalie, additional, Lamoureux, Sylvie, additional, Le Moigno, Laurence, additional, Lucas, Christian, additional, Ratiu, Diana, additional, Redon, Sylvain, additional, Rey, Caroline, additional, Thauvin, Christel, additional, Viallet, François, additional, Tournier-Lasserve, Elisabeth, additional, and Ducros, Anne, additional

Published
2022
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19. Liste des auteurs

Author

Defebvre, Luc, primary, Vérin, Marc, additional, Anheim, Mathieu, additional, Azulay, Jean-Philippe, additional, Bleton, Jean-Pierre, additional, Brefel-Courbon, Christine, additional, Broussolle, Emmanuel, additional, Chrysostome, Virginie, additional, Corvol, Jean-Christophe, additional, Damier, Philippe, additional, Defebvre, Luc, additional, Derkinderen, Pascal, additional, Dujardin, Kathy, additional, Dürr, Alexandra, additional, Duyckaerts, Charles, additional, Fénelon, Gilles, additional, Fraix, Valérie, additional, Joyon, Natacha, additional, Krystkowiak, Pierre, additional, Lohmann, Ebba, additional, Maltête, David, additional, Moreau, Caroline, additional, Ory-Magne, Fabienne, additional, Robert, Gabriel, additional, Thobois, Stéphane, additional, Tison, François, additional, Viallet, François, additional, Vidailhet, Marie, additional, and Witjas, Tatiana, additional

Published
2015
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20. L'effet de l'âge sur les variations de la pression sousglottique estimée chez les sujets parkinsoniens et sains

Author

Ponchard, Clara, Ghio, Alain, Viallet, François, Crevier Buchman, Lise, Demolin, Didier, LPP - Laboratoire de Phonétique et Phonologie - UMR 7018 (LPP), Université Sorbonne Nouvelle - Paris 3-Centre National de la Recherche Scientifique (CNRS), Laboratoire Parole et Langage (LPL), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier d'Aix en Provence [Aix-en-Provence] (CHIAP ), Hôpital Foch [Suresnes], ANR-10-LABX-0083,EFL,Empirical Foundations of Linguistics : data, methods, models(2010), ANR-18-IDEX-0001,Université de Paris,Université de Paris(2018), Ponchard, Clara, Empirical Foundations of Linguistics : data, methods, models - - EFL2010 - ANR-10-LABX-0083 - LABX - VALID, and Université de Paris - - Université de Paris2018 - ANR-18-IDEX-0001 - IDEX - VALID

Subjects
[SHS.LANGUE]Humanities and Social Sciences/Linguistics, [SHS.LANGUE] Humanities and Social Sciences/Linguistics, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2021

23. Clopidogrel Plus Aspirin Versus Warfarin in Patients With Stroke and Aortic Arch Plaques

Author

Amarenco, Pierre, Davis, Stephen, Jones, Elizabeth F., Cohen, Ariel A., Heiss, Wolf-Dieter, Kaste, Markku, Laouénan, Cédric, Young, Dennis, Macleod, Malcolm, Donnan, Geoffrey A., Bladin, Christopher F., Chambers, Brian R., Frayne, Judith, Hankey, Graeme J., Levi, Christopher R., Read, Stephen J., Ravaud, Philippe, Tatlisumak, Turgut, Soinne, Lauri, Laine, Mika, Syvänne, Mikko, Vikatmaa, Pirkka, Lepäntalo, Mauri, Mentré, France, Gosset, Simon, Churilov, Leonid, De Broucker, Thomas, Favrole, Pascal, Mawet, Jérôme, Mocquard, Yves, Obadia, Michael, Godefroy, Olivier, Hosseini, Hassan, Pico, Fernando, Garnier, Pierre, Malbec, Marcel, Pinel, Jean-François, Ille, Olivier, Vadamme, Xavier, Macian-Montoro, Francisco, Servan, Jérôme, Viallet, François, Rosolacci, Thierry, Lecoz, Patrick, Clavelou, Pierre, Detante, Olivier, Cho, Tae-Hee, Saudeau, Denis, Michel, Patrik, D’Ombrogio, Suzette, Serisier, David, Sturm, Jonathon, Kimber, Thomas, Marcus, Romesh, Schwartz, Ray, Helme, Rob, Blacker, David, and Wood, Jonathan

Published
2014
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25. Genetic and phenotypic basis of autosomal dominant Parkinson's disease in a large multi-center cohort

Author

Lesage, Suzanne, Houot, Marion, Mangone, Graziella, Tesson, Christelle, Bertrand, Hélène, Forlani, Sylvie, Anheim, Mathieu, Brefel-Courbon, Christine, Broussolle, Emmanuel, Thobois, Stephane, Damier, Philippe, Durif, Franck, Roze, Emmanuel, Tison, François, Grabli, David, Ory-Magne, Fabienne, Degos, Bertrand, Viallet, François, Cormier-Dequaire, Florence, Ouvrard-Hernandez, Anne-Marie, Vidailhet, Marie, Lohmann, Ebba, Singleton, Andrew, Corvol, Jean-Christophe, Brice, Alexis, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SCCO]Cognitive science, Genotype-Phenotype correlations, [SCCO.NEUR]Cognitive science/Neuroscience, Autosomal dominant inheritance, Parkinson’s disease, G2019S, LRRK2, SNCA, MESH: Parkinson’s disease, SNCA, VPS35, VPS35
Abstract

International audience; LRRK2, SNCA and VPS35 are unequivocally associated with autosomal dominant Parkinson’s disease (PD). We evaluated the prevalence of LRRK2, SNCA and VPS35 mutations and associated clinical features in a large French multi-center cohort of PD patients. Demographic and clinical data were collected for 1805 index cases (592 with autosomal dominant inheritance and 1213 isolated cases) since 1990. All probands were screened with TaqMan assays for LRRK2 Gly2019Ser. In the absence of this mutation, the coding sequences of the three genes were analyzed by Sanger sequencing and/or next-generation sequencing. The data for the three genes were analyzed according to age at onset, family history, ethnic origin and clinical features. We identified 160 index cases (8.9%) with known pathogenic variants: 138 with pathogenic LRRK2 variants (7.6%), including 136 with the Gly2019Ser mutation, 19 with SNCA point mutations or genomic rearrangements (1.1%), and three with the VPS35 Asp620Asn mutation (0.16%). Mutation frequencies were higher in familial than isolated cases, consistent with autosomal dominant inheritance (12.0% vs. 7.3%; OR 1.7, 95% CI [1.2-2.4], p = 0.003). PD patients with LRRK2 variants were more likely to have higher rates of late-onset PD (> 50 years; OR 1.5, 95% CI [1.0-2.2], p = 0.03), whereas those with SNCA mutations tended to have earlier age at onset disease (≤ 50 years, p = 0.06). The clinical features of LRRK2 carriers and those without any pathogenic variants in known PD-associated genes were similar. The likelihood of detecting disease-causing mutations was higher in cases compatible with autosomal dominant inheritance.

Published
2020

26. Characterization of recessive Parkinson's disease in a large multicenter study

Author

Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Romdhan, Sawssan, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Le Toullec, Benjamin, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohammed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, François, Tison, François, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Tazir, Meriem, Djebara, Mouna, Gouider, Riadh, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andrew, Corvol, Jean-Christophe, Brice, Alexis, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Mohammed V de Rabat [Agdal] (UM5), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Laboratoire Parole et Langage (LPL), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (ISC-MJ), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Istanbul University, and National Institutes of Health [Bethesda] (NIH)

Subjects
[SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], genotype-phenotype correlations, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, PINK1, [SCCO.NEUR]Cognitive science/Neuroscience, Parkinson’s disease, PRKN, autosomal recessive inheritance
Abstract

International audience; Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene‐targeting approaches for Parkinson disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ‐1 mutations in a cohort of 1,587 cases. Mutations were found in 14.1% of patients; 27.6% were familial and 8% were isolated. PRKN was the gene most frequently mutated in Caucasians, whereas PINK1 mutations predominated in Arab‐Berber individuals. Patients with PRKN mutations had an earlier age at onset, and less asymmetry, levodopa‐induced motor complications, dysautonomia, and dementia than those without mutations

Published
2020

28. Liste des auteurs

Author

Azulay, Jean-Philippe, primary, Bleton, Jean-Pierre, additional, Broussolle, Emmanuel, additional, Chrysostome, Virginie, additional, Damier, Philippe, additional, Defebvre, Luc, additional, Derkinderen, Pascal, additional, Dujardin, Kathy, additional, Dürr, Alexandra, additional, Ewenczyk, Claire, additional, Fénelon, Gilles, additional, Fraix, Valérie, additional, Krystkowiak, Pierre, additional, Lohmann, Ebba, additional, Thobois, Stéphane, additional, Tison, François, additional, Vérin, Marc, additional, Viallet, François, additional, Vidailhet, Marie, additional, and Witjas, Tatiana, additional

Published
2011
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31. Large-scale screening of the Gaucherʼs disease-related glucocerebrosidase gene in Europeans with Parkinsonʼs disease

Author

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

Published
2011
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32. Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations

Author

Bergametti, Françoise, primary, Viot, Geraldine, additional, Verny, Christophe, additional, Brechard, Marie Pierre, additional, Denier, Christian, additional, Labauge, Pierre, additional, Petit, Paul, additional, Nouet, Aurélien, additional, Viallet, François, additional, Chaussenot, Annabelle, additional, Hervé, Dominique, additional, Tournier-Lasserve, Elisabeth, additional, and Riant, Florence, additional

Published
2020
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33. Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

Author

Depienne, Christel, primary, Ciura, Sorana, additional, Trouillard, Oriane, additional, Bouteiller, Delphine, additional, Leitão, Elsa, additional, Nava, Caroline, additional, Keren, Boris, additional, Marie, Yannick, additional, Guegan, Justine, additional, Forlani, Sylvie, additional, Brice, Alexis, additional, Anheim, Mathieu, additional, Agid, Yves, additional, Krack, Paul, additional, Damier, Philippe, additional, Viallet, François, additional, Houeto, Jean-Luc, additional, Durif, Franck, additional, Vidailhet, Marie, additional, Worbe, Yulia, additional, Roze, Emmanuel, additional, Kabashi, Edor, additional, and Hartmann, Andreas, additional

Published
2019
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34. Effect of linguistic context on the perception of consonants in Parkinsonian Read French speech.

Author

Duez, Danielle, Ghio, Alain, and Viallet, François

Subjects
VOWELS, PHYSIOLOGICAL aspects of speech, LINGUISTICS, SPEECH evaluation, CONSONANTS, PARKINSON'S disease, DESCRIPTIVE statistics, RESEARCH funding, DATA analysis software
Abstract

We examined the effect of linguistic factors on the perceptual identification of intervocalic consonants produced by speakers with Parkinson's Diseases (PD). To neutralize the effect of preceding and following contexts, all the intervocalic consonants were excised with half the preceding and following vowels. We recorded 10 PD and 10 healthy speakers reading a text. An average of 114 VCV sequences per speaker was obtained. In total, our corpus consisted of 2280 stimuli. For the perception test, 20 adults native speakers of French were instructed that they would be presented utterances produced by different speakers and that they were to identify the sequences and write what they heard. No information was given on the sequence type (VCV). The reported consonant was examined in relation to the intended consonant; the score of distorsion was the number of phonetic features differing from the prototypical consonant. The results were examined as a function of the following/or preceding linguistic factors: consonant nature, oral/nasal vocalic context, class of word (function or content) and prosodic position within sentences. Consonant imprecision was confirmed in the speech of PD speakers. Two groups of patients were observed: the former with a low degree of dysarthria severity and scores of consonant identification close to that of healthy speakers; the latter with a high degree of dysarthria severity and a low identification score. Linguistic factors were shown to affect consonant production and perception. In both normal and PD speech, consonants had more features identified when they belonged to content words, word-initial syllables or final-phrase syllables. This suggests that in Parkinson's disease speech disorders relate to motor control and not to a loss of the linguistic knowledge. [ABSTRACT FROM AUTHOR]

Published
2021
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35. LRRK2 Exon 41 Mutations in Sporadic Parkinson Disease in Europeans

Author

Lesage, Suzanne, Janin, Sabine, Lohmann, Ebba, Leutenegger, Anne-Louise, Leclere, Laurence, Viallet, François, Pollak, Pierre, Durif, Franck, Thobois, Stéphane, Layet, Valérie, Vidailhet, Marie, Agid, Yves, Dürr, Alexandra, and Brice, Alexis

Published
2007

36. Head tremor in Parkinsonʼs disease

Author

Roze, Emmanuel, Coêlho-Braga, Maria Clara, Gayraud, Dominique, Legrand, André Pierre, Trocello, Jean-Marc, Fénelon, Gilles, Cochen, Valérie, Patte, Nathalie, Viallet, François, Vidailhet, Marie, Pollak, Pierre, and Apartis, Emmanuelle

Published
2006
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40. Genetic and Phenotypic Characterisation of Autosomal Recessive Parkinson's Disease in a Large Multicentre Cohort

Author

Lesage, Suzanne, primary, Lunati, Ariane, additional, Houot, Marion, additional, Benromdhan, Sawssan, additional, Clot, Fabienne, additional, Tesson, Christelle, additional, Mangone, Graziella, additional, Le Toullec, Benjamin, additional, Courtin, Thomas, additional, Larcher, Kathy, additional, Benmahdjoub, Mustapha, additional, Arezki, Mohammed, additional, Bouhouche, Ahmed, additional, Anheim, Mathieu, additional, Roze, Emmanuel, additional, Viallet, François, additional, Tison, François, additional, Broussolle, Emmanuel, additional, Emre, Murat, additional, Tazir, Meriem, additional, Tranchant, Christine, additional, Vidailhet, Marie, additional, Le Guern, Eric, additional, Corti, Olga, additional, Mhiri, Chokri, additional, Lohmann, Ebba, additional, Singleton, Andrew B., additional, Corvol, Jean-Christophe, additional, Brice, Alexis, additional, and Group (PDG), French Parkinson’s Disease Genetics, additional

Published
2019
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41. LRP10 in α-synucleinopathies

Author

Tesson, Christelle, primary, Brefel-Courbon, Christine, additional, Corvol, Jean-Christophe, additional, Lesage, Suzanne, additional, Brice, Alexis, additional, Agid, Yves, additional, Anheim, Mathieu, additional, Bonnet, A.-M., additional, Borg, Michel, additional, Broussolle, Emmanuel, additional, Damier, Philippe, additional, Destée, Alain, additional, Dürr, Alexandra, additional, Durif, Franck, additional, Lohmann, Ebba, additional, Martinez, Maria, additional, Pollak, Pierre, additional, Rascol, Olivier, additional, Tison, François, additional, Tranchant, Christine, additional, Vérin, Marc, additional, Viallet, François, additional, and Vidailhet, Marie, additional

Published
2018
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42. Deep brain stimulation does not enhance neuroinflammation in multiple system atrophy

Author

Lopez-Cuina, Miguel, primary, Fernagut, Pierre-Olivier, additional, Canron, Marie-Hélène, additional, Vital, Anne, additional, Lannes, Béatrice, additional, De Paula, André Maues, additional, Streichenberger, Nathalie, additional, Guehl, Dominique, additional, Damier, Philippe, additional, Eusebio, Alexandre, additional, Houeto, Jean-Luc, additional, Tison, François, additional, Tranchant, Christine, additional, Viallet, François, additional, Witjas, Tatiana, additional, Thobois, Stéphane, additional, and Meissner, Wassilios G., additional

Published
2018
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43. Natalizumab treatment shows low cumulative probabilities of confirmed disability worsening to EDSS milestones in the long-term setting

Author

Trojano, Maria, primary, Butzkueven, Helmut, additional, Kappos, Ludwig, additional, Wiendl, Heinz, additional, Spelman, Tim, additional, Pellegrini, Fabio, additional, Chen, Yi, additional, Dong, Qunming, additional, Koendgen, Harold, additional, Belachew, Shibeshih, additional, Correale, Jorge, additional, Caride, Alejandro, additional, Deri, Norma H., additional, Ballario, Carlos, additional, Broadley, Simon, additional, Kneebone, Chris, additional, Barnett, Michael, additional, Pollard, John, additional, Hodgkinson, Suzanne, additional, Kermode, Allan, additional, Macdonell, Richard, additional, King, John, additional, Lechner-Scott, Jeannette, additional, Saines, Noel, additional, Slee, Mark, additional, Plummer, Chris, additional, Willekens, Barbara, additional, Vanopdenbosch, Ludo, additional, Phan-Ba, Rémy, additional, Delvaux, Valérie, additional, Bissay, Veronique, additional, Debruyne, Jan, additional, Decoo, Danny, additional, Crols, Roeland, additional, Symons, Anoek, additional, Nagels, Guy, additional, Van Pesch, Vincent, additional, Sindic, Christian, additional, Dubois, Benedicte, additional, Medaer, Robert, additional, D'Hooghe, Marie, additional, Guillaume, Daniel, additional, De Smet, Eric, additional, Seeldrayers, Pierrette, additional, Lysandropoulos, Andreas, additional, Vokaer, Mathieu, additional, Geens, Karine, additional, Willems, Christina, additional, Denayer, Pierre, additional, Bureau, Michel, additional, Retif, Cecile, additional, Dupuis, Michel, additional, Bouquiaux, Olivier, additional, Vanderdonckt, Patrick, additional, van Landegem, William, additional, Caekebeke, Jo, additional, Van Ingelghem, Erwin, additional, Peeters, Katelijne, additional, Gerard, Pascale, additional, de Noordhout, Alain Maertens, additional, Desfontaines, Philippe, additional, Urbain, Etienne, additional, Declercq, Inge, additional, Van Wijmeersch, Bart, additional, Vanroose, Erwin, additional, Wibail, Alain, additional, Barthomolé, Emmanuel, additional, Ursell, Melanie, additional, Sweet, Margaret Elizabeth, additional, Howse, David, additional, Jichici, Draga, additional, Shawush, Melad, additional, Namaka, Mike, additional, Traboulsee, Anthony, additional, Hashimoto, Stan, additional, Lo, Raymond, additional, Marchetti, Paul, additional, Lapierre, Yves, additional, Jacques, Francois, additional, MacLean, Gregg, additional, Bhan, Virender, additional, Duquette, Pierre, additional, Stewart, Bradley, additional, Paulseth, John, additional, Kremenchutzky, Marcelo, additional, Vorobeychik, Galina, additional, O'Connor, Paul, additional, Grand'Maison, François, additional, Havrdova, Eva, additional, Meluzinová, Eva, additional, Valis, Martin, additional, Talab, Radomír, additional, Stourac, Pavel, additional, Zapletalová, Olga, additional, Dufek, Michal, additional, Sládková, Vladimíra, additional, Novotna, Alena, additional, Vancurová, Romana, additional, Lhotaková, Libuse, additional, Fiedler, Jiri, additional, Vachova, Marta, additional, Dolezil, David, additional, Stetkarova, Ivana, additional, Rehankova, Adela, additional, Psenica, Petr, additional, Ulehlova, Veronika, additional, Feketova, Sona, additional, Skoda, Ondrej, additional, Färkkilä, Markus, additional, Taneli, Sarasoja, additional, Koivisto, Keijo, additional, Seppä, Juha Matti, additional, Airas, Laura, additional, Elovaara, Irina, additional, Hartikainen, Päivi, additional, Pirttila, Tuula, additional, Louchart, Pierre, additional, Ille, Olivier, additional, Thenint, Jean philippe, additional, Godet, Etienne, additional, Vioud, Marcel Maillet, additional, Colamarino, Renato, additional, Gugenheim, Michel, additional, Grimaud, Jerome, additional, Kopf, Audrey, additional, Billy, Christophe, additional, Huttin, Bernard, additional, Borsotti, Jean paul, additional, Devos, Philippe, additional, Kendjuo, Jean bertin N, additional, Verier, Albert, additional, Chapuis, Stephane, additional, Daluzeau, Nathalie, additional, Angibaud, Gilles, additional, Uriot, Marie-Sylvie Artaud, additional, Ziegler, François, additional, Sellal, François, additional, Moulignier, Antoine, additional, Lavenu, Isabelle, additional, Ismail, Samir, additional, Devy, Richard, additional, Suceveanu, Manuel, additional, Wagner, Marc, additional, Marcel, Sebastien, additional, Derouiche, Faycal, additional, Mostoufizadehghalamfarsa, Sohrab, additional, Delalande, Sophie, additional, Ruggieri, Irene, additional, Van Nieuwenhuyse, Catherine Bossu, additional, Nifle, Chantal, additional, Ondze, Basile, additional, Vasilescu, Carmen Gurau, additional, Vongsouthi, Cyrille, additional, Coustans, Marc, additional, Anne, Olivier, additional, Amevigbe, Josephine, additional, Servan, Jerome, additional, Merienne, Marc, additional, Eck, Philippe, additional, Berroir, Stephane, additional, Busson, Philippe, additional, Barroso, Bruno, additional, Larrieu, Jean-Marc, additional, Giendaj, Catherine Louvet, additional, Malkoun, Imad, additional, Hautecoeur, Patrick, additional, Kwiatkowski, Arnaud, additional, Pouliquen, Andre, additional, Garrigues, Guillaume, additional, Delerue, Olivier, additional, Giraud, Pierric, additional, Gere, Julien, additional, Vaunaize, Jean, additional, Dereeper, Olivier, additional, Seiller, Nicolas, additional, Alsassa, Roger, additional, Vlaicu, Mihaela, additional, Neuville, Veronique, additional, Faucheux, Jean Marc, additional, Bernady, Patricia, additional, Fanjaud, Guy, additional, Viallet, François, additional, Schroeter, Michael, additional, Schlemilch-Paschen, Sylke, additional, Lange, Thomas, additional, Bohr, Kin-Arno, additional, Jendroska, Klaus, additional, Rehkopf, Elisabeth, additional, Bergmann, Arnfin, additional, Kleinschnitz, Christoph, additional, Postert, Thomas, additional, Scholz, Peter, additional, Mauz, Uwe, additional, Stratmann, Hubert, additional, Siefjediers, Veneta, additional, Prantl, Martin, additional, Gehring, Klaus, additional, Zellner, Ruth, additional, Junge, Kathrin, additional, Zellner, Anton, additional, Bacay, Valerina, additional, Schlegel, Eugen, additional, Polzer, Udo, additional, Strauss, Erik, additional, Link, Andreas, additional, Stenzel, Christoph, additional, Freidel, Matthias, additional, Drews, Joachim, additional, Neudert, Christian, additional, Schmitz, Frank, additional, Jaeger, Joachim, additional, Masri, Said, additional, Heuberger, Wolfgang, additional, Trausch, Beate, additional, Ruhnke, Oliver, additional, Scarel, Serena, additional, Bach, Kathlen, additional, Ernst, Michael, additional, Landefeld, Harald, additional, Richter, Nils, additional, Schmidt, Stephan, additional, Krause, Michaela, additional, Dressel, Alezander, additional, Ruth, Roland, additional, Anvari, Kerstin, additional, Gossling, Jens, additional, Schenk, Christoph, additional, Tiedge, Oliver, additional, Bode, Lutz, additional, Eder, Hans-Thomas, additional, Pfeffer, Oliver, additional, Krug, Reinhard, additional, Lassek, Christoph, additional, Fleischer, Eberhard, additional, Meuth, Sven, additional, Klotz, Luisa Hildegard, additional, Peglau, Ines, additional, Kukowski, Borries, additional, Herting, Birgit, additional, Guthke, Kersten, additional, Schierenbeck, Jurgen, additional, Brockmeier, Bernd, additional, Albrecht, Holger, additional, Wuttke, Matthias, additional, Augspach-Hofmann, Regine, additional, Gunther, Stefan, additional, Redbrake, Martin, additional, Franke, Christian, additional, Buchner, Klaus, additional, Gratz, Thomas, additional, Horn, Rolf, additional, Doemges, Frank, additional, Schreiber, Martin, additional, Brosch, Thomas, additional, Horn, Markus, additional, Kittlitz, Matthias, additional, Vulturius, Gabriele, additional, Hinse, Paul, additional, Malessa, Rolf, additional, Wiehler, Stephan, additional, Katsarava, Zaza, additional, Kastrup, Oliver, additional, Kausch, Ulrich, additional, Gullekes, Martin, additional, Fickinger, Markus, additional, Wenzel, Wilhelm, additional, Botefur, Ingolf C., additional, Reifschneider, Gerd, additional, Rauer, Sebastian, additional, Lang, Michael, additional, Harms, Lutz, additional, Eckhardt, Ulrich, additional, Cursiefen, Simone, additional, Linker, Ralf, additional, Angstwurm, Klemens, additional, Haas, Judith, additional, Schuetze, Ivo, additional, Rohm, Eva, additional, Stienker-Fisse, H., additional, Sailer, Michael, additional, Bohringer, Johannes, additional, Maurer, Mathias, additional, Bause, Eberhard, additional, Wersching, Ronald, additional, Dachsel, Reinhardt, additional, Domke, Sylke, additional, Hoffman, Frank, additional, Tackenberg, Bjorn, additional, Roch, Kerstin, additional, Ziebold, Uwe, additional, Kallmann, Boris, additional, Buehler, Bernhard, additional, Faiss, Judith, additional, Faiss, Juergen, additional, Schimrigk, Sebastian, additional, Menges, Christian, additional, Knop, Karl Christian, additional, Koehler, Wolfgang, additional, Siever, Arno, additional, Bufler, Johannes, additional, Gramsl, Georg, additional, Kuhnler, 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Published
2018
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45. Forward versus backward oriented stepping movements in Parkinsonian patients.

Author

Gantchev, Nikolai, Viallet, François, Aurenty, Roselyn, Massion, Jean, Gantchev, N, Viallet, F, Aurenty, R, and Massion, J

Subjects
PARKINSON'S disease patients, MOTOR ability, ANALYSIS of variance, COMPARATIVE studies, GAIT disorders, KINEMATICS, MATHEMATICAL models, RESEARCH methodology, MEDICAL cooperation, NEUROLOGICAL disorders, PARKINSON'S disease, POSTURE, RESEARCH, SENSES, VISUAL perception, THEORY, EVALUATION research, CASE-control method, SKELETAL muscle, DISEASE complications
Abstract

The primary purpose of this paper was to compare the effect of reversing the direction of step initiation in Parkinson's disease. Forward (FDS) and backward (BDS) oriented stepping initiation analyses were conducted on combined kinematic and kinetic data recorded on Parkinsonian patients (PD) and healthy age-matched subjects. Two successive phases were examined: a postural phase from T1 (onset of the center of pressure [CP] displacement) to T2 (onset of the malleolus displacement), which was followed by a stepping phase from T2 to T3 (end of the malleolus displacement; i.e., the end of the step). In healthy subjects, the duration of the postural phase remained unchanged regardless of the direction in which the step was initiated. The stepping phase duration and the first step length were reduced in BDS in comparison with FDS. In both tasks, the absolute value of the horizontal force in sagittal plane (Fx) remained unchanged. The maximal velocity of the iliac crest marker (estimated whole body center of gravity [CG]) in the sagittal plane (Vmax CG) remained within the same range regardless of direction of stepping. In Parkinsonian patients, the duration of the postural phase was markedly prolonged in both tasks in comparison with healthy subjects. The mean duration of stepping phase was approximately the same as in normal subjects, but the first step length was considerably reduced, as were horizontal force (Fx) and Vmax CG. This impairment, which was due to a decrease in the propulsive forces, was significantly more pronounced in BDS that in FDS. [ABSTRACT FROM AUTHOR]

Published
2000
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