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637 results on '"Thobois, Stéphane"'

1. Psychiatric phenotype in neurodevelopmental myoclonus-dystonia is underpinned by abnormality of cerebellar modulation on the cerebral cortex

Author

Tarrano, Clément, Galléa, Cécile, Delorme, Cécile, McGovern, Eavan M., Atkinson-Clement, Cyril, Brochard, Vanessa, Thobois, Stéphane, Tranchant, Christine, Grabli, David, Degos, Bertrand, Corvol, Jean Christophe, Pedespan, Jean-Michel, Krystkowiak, Pierre, Houeto, Jean-Luc, Degardin, Adrian, Defebvre, Luc, Beranger, Benoit, Martino, Davide, Apartis, Emmanuelle, Vidailhet, Marie, Roze, Emmanuel, and Worbe, Yulia

Published
2024
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2. Volumetric changes and clinical trajectories in Parkinson’s disease: a prospective multicentric study

Author

Marques, Ana, Macias, Elise, Pereira, Bruno, Durand, Elodie, Chassain, Carine, Vidal, Tiphaine, Defebvre, Luc, Carriere, Nicolas, Fraix, Valerie, Moro, Elena, Thobois, Stéphane, Metereau, Elise, Mangone, Graziella, Vidailhet, Marie, Corvol, Jean-Christophe, Lehéricy, Stéphane, Menjot de Champfleur, Nicolas, Geny, Christian, Spampinato, Umberto, Meissner, Wassilios G., Frismand, Solène, Schmitt, Emmanuelle, Doé de Maindreville, Anne, Portefaix, Christophe, Remy, Philippe, Fénelon, Gilles, Houeto, Jean Luc, Colin, Olivier, Rascol, Olivier, Peran, Patrice, Bonny, Jean-Marie, Fantini, Maria Livia, and Durif, Franck

Published
2023
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3. Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations

Author

Carneiro, Fábio, Saracino, Dario, Huin, Vincent, Clot, Fabienne, Delorme, Cécile, Méneret, Aurélie, Thobois, Stéphane, Cormier, Florence, Corvol, Jean Christophe, Lenglet, Timothée, Vidailhet, Marie, Habert, Marie-Odile, Gabelle, Audrey, Beaufils, Émilie, Mondon, Karl, Tir, Mélissa, Andriuta, Daniela, Brice, Alexis, Deramecourt, Vincent, and Ber, Isabelle Le

Subjects
Quantitative Biology - Neurons and Cognition
Abstract

Introduction: A phenotype of isolated parkinsonism mimicking Idiopathic Parkinson's Disease (IPD) is a rare clinical presentation of GRN and C9orf72 mutations, the major genetic causes of frontotemporal dementia (FTD). It still remains controversial if this association is fortuitous or not, and which clinical clues could reliably suggest a genetic FTD etiology in IPD patients. This study aims to describe the clinical characteristics of FTD mutation carriers presenting with IPD phenotype, provide neuropathological evidence of the mutation's causality, and specifically address their "red flags" according to current IPD criteria. Methods: Seven GRN and C9orf72 carriers with isolated parkinsonism at onset, and three patients from the literature were included in this study. To allow better delineation of their phenotype, the presence of supportive, exclusion and "red flag" features from MDS criteria were analyzed for each case. Results: Amongst the ten patients (5 GRN, 5 C9orf72), seven fulfilled probable IPD criteria during all the disease course, while behavioral/language or motoneuron dysfunctions occurred later in three. Disease duration was longer and dopa-responsiveness was more sustained in C9orf72 than in GRN carriers. Subtle motor features, cognitive/behavioral changes, family history of dementia/ALS were suggestive clues for a genetic diagnosis. Importantly, neuropathological examination in one patient revealed typical TDP-43-inclusions without alpha-synucleinopathy, thus demonstrating the causal link between FTD mutations, TDP-43-pathology and PD phenotype. Conclusion: We showed that, altogether, family history of early-onset dementia/ALS, the presence of cognitive/behavioral dysfunction and subtle motor characteristics are atypical features frequently present in the parkinsonian presentations of GRN and C9orf72 mutations .

Published
2022
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4. Efficacy and safety of clonidine for the treatment of impulse control disorder in Parkinson’s disease: a multicenter, parallel, randomised, double-blind, Phase 2b Clinical trial

Author

Laurencin, Chloé, Timestit, Noémie, Marques, Ana, Duchez, Domitille Dilly, Giordana, Caroline, Meoni, Sara, Huddlestone, Marine, Danaila, Teodor, Anheim, Mathieu, Klinger, Hélène, Vidal, Tiphaine, Fatisson, Marion, Caire, Catherine, Nourredine, Mikail, Boulinguez, Philippe, Dhelens, Carole, Ballanger, Bénédicte, Prange, Stéphane, Bin, Sylvie, and Thobois, Stéphane

Published
2023
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5. Imbalanced motivated behaviors according to motor sign asymmetry in drug-naïve Parkinson’s disease

Author

Béreau, Matthieu, Castrioto, Anna, Servant, Mathieu, Lhommée, Eugénie, Desmarets, Maxime, Bichon, Amélie, Pélissier, Pierre, Schmitt, Emmanuelle, Klinger, Hélène, Longato, Nadine, Phillipps, Clélie, Wirth, Thomas, Fraix, Valérie, Benatru, Isabelle, Durif, Franck, Azulay, Jean-Philippe, Moro, Elena, Broussolle, Emmanuel, Thobois, Stéphane, Tranchant, Christine, Krack, Paul, and Anheim, Mathieu

Published
2023
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6. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

Author

Méreaux, Jean-Loup, Davoine, Claire-Sophie, Pellerin, David, Coarelli, Giulia, Coutelier, Marie, Ewenczyk, Claire, Monin, Marie-Lorraine, Anheim, Mathieu, Le Ber, Isabelle, Thobois, Stéphane, Gobert, Florent, Guillot-Noël, Léna, Forlani, Sylvie, Jornea, Ludmila, Heinzmann, Anna, Sangare, Aude, Gaymard, Bertrand, Guyant-Maréchal, Lucie, Charles, Perrine, Marelli, Cecilia, Honnorat, Jérôme, Degos, Bertrand, Tison, François, Sangla, Sophie, Simonetta-Moreau, Marion, Salachas, François, Tchikviladzé, Maya, Castelnovo, Giovanni, Mochel, Fanny, Klebe, Stephan, Castrioto, Anna, Fenu, Silvia, Méneret, Aurélie, Bourdain, Frédéric, Wandzel, Marion, Roth, Virginie, Bonnet, Céline, Riant, Florence, Stevanin, Giovanni, Noël, Sandrine, Fauret-Amsellem, Anne-Laure, Bahlo, Melanie, Lockhart, Paul J., Brais, Bernard, Renaud, Mathilde, Brice, Alexis, and Durr, Alexandra

Published
2024
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9. Genetic stratification of motor and QoL outcomes in Parkinson's disease in the EARLYSTIM study

Author

Weiss, Daniel, Landoulsi, Zied, May, Patrick, Sharma, Manu, Schüpbach, Michael, You, Hana, Corvol, Jean Christophe, Paschen, Steffen, Helmers, Ann-Kristin, Barbe, Michael, Fink, Gereon, Kühn, Andrea A., Courbon, Christine Brefel, Wojtecki, Lars, Damier, Philippe, Fraix, Valerie, Houeto, Jean-Luc, Regis, Jean, Sixel-Döring, Friederike, Pinsker, Marcus O., Thobois, Stephane, Gharabaghi, Alireza, Stoker, Valerie, Timmermann, Lars, Schnitzler, Alfons, Krack, Paul, Vidailhet, Marie, Deuschl, Günther, and Krüger, Rejko

Published
2022
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11. Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial

Author

Coarelli, Giulia, Heinzmann, Anna, Ewenczyk, Claire, Fischer, Clara, Chupin, Marie, Monin, Marie-Lorraine, Hurmic, Hortense, Calvas, Fabienne, Calvas, Patrick, Goizet, Cyril, Thobois, Stéphane, Anheim, Mathieu, Nguyen, Karine, Devos, David, Verny, Christophe, Ricigliano, Vito A G, Mangin, Jean-François, Brice, Alexis, Tezenas du Montcel, Sophie, and Durr, Alexandra

Published
2022
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12. Intrasubject subcortical quantitative referencing to boost MRI sensitivity to Parkinson's disease

Author

Khedher, Laila, Bonny, Jean-Marie, Marques, Ana, Durand, Elodie, Pereira, Bruno, Chupin, Marie, Vidal, Tiphaine, Chassain, Carine, Defebvre, Luc, Carriere, Nicolas, Fraix, Valerie, Moro, Elena, Thobois, Stéphane, Metereau, Elise, Mangone, Graziella, Vidailhet, Marie, Corvol, Jean-Christophe, Lehéricy, Stéphane, Menjot de Champfleur, Nicolas, Geny, Christian, Spampinato, Umberto, Meissner, Wassilios, Frismand, Solène, Schmitt, Emmanuelle, Doé de Maindreville, Anne, Portefaix, Christophe, Remy, Philippe, Fénelon, Gilles, Luc Houeto, Jean, Colin, Olivier, Rascol, Olivier, Peran, Patrice, and Durif, Franck

Published
2022
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14. Association of abnormal explicit sense of agency with cerebellar impairment in myoclonus-dystonia

Author

Tarrano, Clément, primary, Galléa, Cécile, additional, Delorme, Cécile, additional, McGovern, Eavan M, additional, Atkinson-Clement, Cyril, additional, Jarratt Barnham, Isaac, additional, Brochard, Vanessa, additional, Thobois, Stéphane, additional, Tranchant, Christine, additional, Grabli, David, additional, Degos, Bertrand, additional, Corvol, Jean Christophe, additional, Pedespan, Jean-Michel, additional, Krystkowiak, Pierre, additional, Houeto, Jean-Luc, additional, Degardin, Adrian, additional, Defebvre, Luc, additional, Valabrègue, Romain, additional, Beranger, Benoit, additional, Apartis, Emmanuelle, additional, Vidailhet, Marie, additional, Roze, Emmanuel, additional, and Worbe, Yulia, additional

Published
2024
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15. Microstructure of the cerebellum and its afferent pathways underpins dystonia in myoclonus dystonia.

Author

Tarrano, Clément, Zito, Giuseppe, Galléa, Cécile, Delorme, Cécile, McGovern, Eavan M., Atkinson‐Clement, Cyril, Brochard, Vanessa, Thobois, Stéphane, Tranchant, Christine, Grabli, David, Degos, Bertrand, Corvol, Jean Christophe, Pedespan, Jean‐Michel, Krystkowiak, Pierre, Houeto, Jean‐Luc, Degardin, Adrian, Defebvre, Luc, Didier, Mélanie, Valabrègue, Romain, and Apartis, Emmanuelle

Abstract

Background and Purpose: Myoclonus dystonia due to a pathogenic variant in SGCE (MYC/DYT‐SGCE) is a rare condition involving a motor phenotype associating myoclonus and dystonia. Dysfunction within the networks relying on the cortex, cerebellum, and basal ganglia was presumed to underpin the clinical manifestations. However, the microarchitectural abnormalities within these structures and related pathways are unknown. Here, we investigated the microarchitectural brain abnormalities related to the motor phenotype in MYC/DYT‐SGCE. Methods: We used neurite orientation dispersion and density imaging, a multicompartment tissue model of diffusion neuroimaging, to compare microarchitectural neurite organization in MYC/DYT‐SGCE patients and healthy volunteers (HVs). Neurite density index (NDI), orientation dispersion index (ODI), and isotropic volume fraction (ISOVF) were derived and correlated with the severity of motor symptoms. Fractional anisotropy (FA) and mean diffusivity (MD) derived from the diffusion tensor approach were also analyzed. In addition, we studied the pathways that correlated with motor symptom severity using tractography analysis. Results: Eighteen MYC/DYT‐SGCE patients and 24 HVs were analyzed. MYC/DYT‐SGCE patients showed an increase of ODI and a decrease of FA within their motor cerebellum. More severe dystonia was associated with lower ODI and NDI and higher FA within motor cerebellar cortex, as well as with lower NDI and higher ISOVF and MD within the corticopontocerebellar and spinocerebellar pathways. No association was found between myoclonus severity and diffusion parameters. Conclusions: In MYC/DYT‐SGCE, we found microstructural reorganization of the motor cerebellum. Structural change in the cerebellar afferent pathways that relay inputs from the spinal cord and the cerebral cortex were specifically associated with the severity of dystonia. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations

Author

Carneiro, Fábio, Saracino, Dario, Huin, Vincent, Clot, Fabienne, Delorme, Cécile, Méneret, Aurélie, Thobois, Stéphane, Cormier, Florence, Corvol, Jean Christophe, Lenglet, Timothée, Vidailhet, Marie, Habert, Marie-Odile, Gabelle, Audrey, Beaufils, Émilie, Mondon, Karl, Tir, Mélissa, Andriuta, Daniela, Brice, Alexis, Deramecourt, Vincent, and Le Ber, Isabelle

Published
2020
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18. Early cognitive decline after bilateral subthalamic deep brain stimulation in Parkinson's disease patients with GBA mutations

Author

Benchetrit, Eve, Delaby, Laure, Berthet, Deborah, Danjou, Fabrice, Vidaihlet, Marie, Krack, Paul, Pelissier, Pierre, Morand, Dominique, Delaigue, Christine, Barun, Nadia, Anheim, Mathieu, Pleuvret, Marie, Destée, Alain, Defebvre, Luc, Moreau, Caroline, Simonin, Clémence, Ryckewaert, Gilles, Kreisler, Alexandre, Mutez, Eugénie, Carrière, Nicolas, Hopes, Lucie, Tard, Céline, Grolez, Guillaume, Dujardin, Kathy, Pecheux, Nathalie, Delliaux, Marie, Rolland, Anne-Sophie, Broussolle, Emmanuel, Laurencin, Chloè, Tison, François, Burbaud, Pierre, Mangone, Graziella, Bekadar, Samir, Cormier-Dequaire, Florence, Tahiri, Khadija, Welaratne, Arlette, Czernecki, Virginie, Pineau, Fanny, Karachi, Carine, Castrioto, Anna, Durif, Frank, Tranchant, Christine, Devos, David, Thobois, Stéphane, Meissner, Wassilios G, Navarro, Maria Soledad, Cornu, Philippe, Lesage, Suzanne, Brice, Alexis, Welter, Marie Laure, and Corvol, Jean-Christophe

Published
2020
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21. Programming parameters of subthalamic deep brain stimulators in Parkinson's disease from a controlled trial

Author

Knudsen, K., Krack, P., Tonder, L., Houeto, J.-L., Rau, J., Schade-Brittinger, C., Hartmann, A., Hälbig, Thomas D., Paschen, Stephen, Barbe, Michael T., Kühn, Andrea, Fraix, Valerie, Brefel-Courbon, Christine, Vesper, Jan, Maltête, David, Sixel-Döring, Friederike, Weiss, Daniel, Witjas, Tatiana, Thobois, Stephane, Agid, Yves, Schnitzler, A., Schuepbach, W.M.M., Timmermann, L., Damier, Philippe, Vidailhet, M., and Deuschl, G.

Published
2019
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22. Descriptive analysis of the French NS-Park registry: Towards a nation-wide Parkinson's disease cohort?

Author

Mariani, Louise-Laure, Doulazmi, Mohamed, Chaigneau, Véronique, Brefel-Courbon, Christine, Carrière, Nicolas, Danaila, Teodor, Defebvre, Luc, Defer, Gilles, Dellapina, Estelle, Doé de Maindreville, Anne, Geny, Christian, Maltête, David, Meissner, Wassilios G., Rascol, Olivier, Thobois, Stéphane, Torny, Frederic, Tranchant, Christine, Vidailhet, Marie, Corvol, Jean-Christophe, and Degos, Bertrand

Published
2019
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24. Trial of Deferiprone in Parkinson’s Disease

Author

Devos, David, Labreuche, Julien, Dušek, Petr, Post, Bart, Bloem, Bastiaan R, Berg, Daniela, Maetzler, Walter, Otto, Markus, Habert, Marie-Odile, Lehericy, Stéphane, Ferreira, Joaquim, Dodel, Richard, Rascol, Olivier, Tranchant, Christine, Eusebio, Alexandre, Thobois, Stéphane, Marques, Ana-Raquel, Meissner, Wassilios G, Ory-Magne, Fabienne, Walter, Uwe, de Bie, Rob M A, Gago, Miguel, Vilas, Dolores, Corvol, Jean-Christophe, Kulisevsky, Jaime, Januario, Cristina, Coelho, Miguel V S, Behnke, Stefanie, Worth, Paul, Seppi, Klaus, Ouk, Thavarak, Potey, Camille, Leclercq, Céline, Viard, Romain, Duhamel, Alain, Kuchcinski, Gregory, Lopes, Renaud, Pruvo, Jean-Pierre, Pigny, Pascal, Garçon, Guillaume, Simonin, Ophélie, Carpentier, Jessica, Rolland, Anne-Sophie, Nyholm, Dag, Scherfler, Christoph, Guyon Delannoy, Pauline, Mangin, Jean-François, Chupin, Marie, Bordet, Régis, Dexter, David T, Fradette, Caroline, Spino, Michael, Tricta, Fernando, Ayton, Scott, Bush, Ashley I, Devedjian, Jean-Christophe, Poewe, Werner, Duce, James A, Cabantchik, Ioav, Defebvre, Luc, Deplanque, Dominique, Moreau, Caroline, Group, FAIRPARK-II Study, Compta, Yaroslau, Pavese, Nicola, Růžička, Evžen, Basenau, Sandra, Beliveau, Vincent, Benchetrit, Eve, Best, Laura, Bloem, Bas, Bonicel, Robin, Boraud, T., Bordet, Regis, Bouca, Raquel, Bourdain, Frédéric, Bouzas, Jimena, Brefel-Courbon, Christine, Bubenheim, Michael, Burn, David, Bush, Ashley I, Cabantchik, Ioav, Calvas, Fabienne, Cámara, Ana, Campolongo, Antonia, Carrière, Nicolas, Chaigneau, Véronique, Matthieu, Collin, Compta, Yaroslau, Connelly, John, Cormier-Dequaire, Florence, Cranston, Amy, Dean, Rory, De Marzi, Roberto, Degos, Bertrand, Demotes, Jacques, Dellapina, Estelle, Deplanque, Dominique, Devedjian, Jean-Christophe, Devos, David, Dexter, David, Dodel, Richard, Dongmo, Carole, Duce, James, Duhamel, Alain, Dupouy, Julia, Dusek, Petr, El Mountassir, Fouzia, Eyvrard, Frédéric, Fernández, Manel, Ferreira, Joaquim, Forni, Gian Luca, Foster, Victoria, Foubert-Samier, Alexandra, Fradette, Caroline, Fréville, Laëtitia, Galitzky, Monique, Gaudebout, Cecile, Gelé, Patrick, Giladi, Nir, Grabli, David, Gleixner, Franck, Grolez, Guillaume, Guyon, Pauline, Habert, Marie-Odile, Harroch, Estelle, Hartmann, Andreas, Hirsch, Denise, Hisbergues, Michael, Hobert, Markus A, Hopfner, Franziska, Jurado, Camille, Kaiser, Andreas, Keen, Gill, Klaus, Seppi, Kouassi, Nadège, Labreuch, Julien, Lacomblez, Lucette, Lagha Boukbiza, Ouhaid, Lanthaler, Barbara, Lechatellier, Gilles, Le Forestier, Nadine, Lehmann, Fred, Lloret, Teresa, Le Naour, J., Le Toullec, Benjamin, Locatelli, Maxime, Löhle, Matthias, Lomeña, F., Longato, Nadine, Lützen, Ulf, McNichol, Ann, Maetzler, Corina, Maetzler, Walter, Mahlknecht, Philipp, Mangone, Graziella, Marín-Lahoz, Juan, Mariani, Louise-Laure, Marques, Ana, Matei, Mihaela, Matthias, Löhle, Maucourt Bacchi, Emilie, Meissner, Wassilios, Michon, Amelie, Moreau, Caroline, Nardocci, Nardo, Nosal, Florence, Nyholm, Dag, Oeckl, Patrick, Oravska, Irena, Ory, Fabienne, Otto, Markus, Ouk, Thavarak, Pagonabarraga, Javier, Pascual-Sedano, Berta, Peball, Marina, Phillips, Clélie, Pineau, Fanny, Planellas, Lluís, Pop-Ilieva, Chiesi, Rabier, Aurélie, Olivier, D., Riedel, Christian, Rodrigues, Maura, Roullet-Solignac, Isabelle, Rose, Christian, Rozova, Anna, Růžička, Evžen, Salis, Alexandra, Schäffer, Eva, Scherfler, Christoph, Schiefermeier, Natalia, Seppi, Klaus, Smagghe, Delphine, Silva, Tânia, Silva, Pedro, Socha, Julie, Souyris, Corinne, Spampinato, Umberto, Spino, Michael, Steel, Alison, Sweta, Bajaj, Thalamas, Claire, Teodor, Danaila, Teresa, Anna, Tison, François, Tolosa, Eduardo, Tricta, Fernando, Trifirò Trifirò, Gianluca, Vidailhet, Marie, Wang, Yi, Werkmann, Mario, Yilmas, Rezzak, You, Hana, Zeuner, Kirsten, Defebvre, Luc, Rascol, Olivier, Tranchant, Christine, Eusebio, Alexandre, Thobois, Stéphane, Corvol, Jean-Christophe, Durif, Franck, Meissner, Wassilos, Yaroslau, Compta, Vilas, Dolores, Kulisevsky, Jaime, Poewe, Werner, Ruzicka, Evzen, Gago, Miguel, Januario, Cristina, Vilhena Soares Coelho, Miguel, Berg, Daniela, Behnke, Stefanie, Walter, Uwe, Worth, Paul, Pavese, Nicola, Post, Bart, de Bie, Rob M A, Abbruzzese, Giovanni, Accart, Bertrand, Allain, Marie-Anne, Anheim, Mathieu, Ardigo, Diego, Aracil-Bolaños, Ignacio, Baba, Paul, Bakker, Martijn, Balzer-Geldsetzer, Monika, Bargalló, Núria, Barone, Paolo, Neurology, ANS - Neurodegeneration, and APH - Aging & Later Life

Subjects
administration & dosage [Deferiprone], Dopamine, Dopamine Agents, Medizin, Administration, Oral, Levodopa, Antiparkinson Agents, therapeutic use [Dopamine Agents], therapeutic use [Deferiprone], Deferiprone, metabolism [Iron], adverse effects [Deferiprone], Geriatrics/Aging, Parkinson Disease, General Medicine, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hematology/Oncology, chemistry [Substantia Nigra], adverse effects [Dopamine Agents], Disease Progression, administration & dosage [Dopamine Agents], physiopathology [Parkinson Disease], adverse effects [Iron Chelating Agents], Neutropenia, analysis [Iron], administration & dosage [Antiparkinson Agents], Iron, metabolism [Parkinson Disease], Neurology/Neurosurgery, therapeutic use [Levodopa], Iron Chelating Agents, pharmacology [Iron Chelating Agents], Double-Blind Method, adverse effects [Antiparkinson Agents], Genetics, diagnostic imaging [Substantia Nigra], metabolism [Substantia Nigra], Humans, ddc:610, diagnostic imaging [Brain], therapeutic use [Antiparkinson Agents], Brain Chemistry, pharmacology [Antiparkinson Agents], therapeutic use [Iron Chelating Agents], Hematology/Oncology General, chemically induced [Neutropenia], pharmacology [Deferiprone], drug therapy [Parkinson Disease], administration & dosage [Iron Chelating Agents], Geriatrics/Aging General, pharmacology [Dopamine Agents], drug effects [Substantia Nigra], Neuroscience
Abstract

Contains fulltext : 287484.pdf (Publisher’s version ) (Open Access) BACKGROUND: Iron content is increased in the substantia nigra of persons with Parkinson's disease and may contribute to the pathophysiology of the disorder. Early research suggests that the iron chelator deferiprone can reduce nigrostriatal iron content in persons with Parkinson's disease, but its effects on disease progression are unclear. METHODS: We conducted a multicenter, phase 2, randomized, double-blind trial involving participants with newly diagnosed Parkinson's disease who had never received levodopa. Participants were assigned (in a 1:1 ratio) to receive oral deferiprone at a dose of 15 mg per kilogram of body weight twice daily or matched placebo for 36 weeks. Dopaminergic therapy was withheld unless deemed necessary for symptom control. The primary outcome was the change in the total score on the Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS; range, 0 to 260, with higher scores indicating more severe impairment) at 36 weeks. Secondary and exploratory clinical outcomes at up to 40 weeks included measures of motor and nonmotor disability. Brain iron content measured with the use of magnetic resonance imaging was also an exploratory outcome. RESULTS: A total of 372 participants were enrolled; 186 were assigned to receive deferiprone and 186 to receive placebo. Progression of symptoms led to the initiation of dopaminergic therapy in 22.0% of the participants in the deferiprone group and 2.7% of those in the placebo group. The mean MDS-UPDRS total score at baseline was 34.3 in the deferiprone group and 33.2 in the placebo group and increased (worsened) by 15.6 points and 6.3 points, respectively (difference, 9.3 points; 95% confidence interval, 6.3 to 12.2; P

Published
2022

26. Noradrenergic alterations in Parkinson's disease: a combined 11C-yohimbine PET/neuromelanin MRI study.

Author

Laurencin, Chloé, Lancelot, Sophie, Brosse, Sarah, Mérida, Inés, Redouté, Jérôme, Greusard, Elise, Lamberet, Ludovic, Liotier, Véronique, Bars, Didier Le, Costes, Nicolas, Thobois, Stéphane, Boulinguez, Philippe, and Ballanger, Bénédicte

Subjects
PARKINSON'S disease, APATHY, TEMPORAL lobe, LOCUS coeruleus, MAGNETIC resonance imaging, MOTOR cortex
Abstract

Degeneration of the noradrenergic system is now considered a pathological hallmark of Parkinson's disease, but little is known about its consequences in terms of parkinsonian manifestations. Here, we evaluated two aspects of the noradrenergic system using multimodal in vivo imaging in patients with Parkinson's disease and healthy controls: the pigmented cell bodies of the locus coeruleus with neuromelanin sensitive MRI; and the density of α2-adrenergic receptors (ARs) with PET using 11C-yohimbine. Thirty patients with Parkinson's disease and 30 age- and sex-matched healthy control subjects were included. The characteristics of the patients' symptoms were assessed using the Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS). Patients showed reduced neuromelanin signal intensity in the locus coeruleus compared with controls and diminished 11C-yohimbine binding in widespread cortical regions, including the motor cortex, as well as in the insula, thalamus and putamen. Clinically, locus coeruleus neuronal loss was correlated with motor (bradykinesia, motor fluctuations, tremor) and non-motor (fatigue, apathy, constipation) symptoms. A reduction of α2-AR availability in the thalamus was associated with tremor, while a reduction in the putamen, the insula and the superior temporal gyrus was associated with anxiety. These results highlight a multifaceted alteration of the noradrenergic system in Parkinson's disease since locus coeruleus and α2-AR degeneration were found to be partly uncoupled. These findings raise important issues about noradrenergic dysfunction that may encourage the search for new drugs targeting this system, including α2-ARs, for the treatment of Parkinson's disease. [ABSTRACT FROM AUTHOR]

Published
2024
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27. Noradrenergic alterations in Parkinson’s disease: a combined 11C-yohimbine PET/neuromelanin MRI study

Author

Laurencin, Chloé, primary, Lancelot, Sophie, additional, Brosse, Sarah, additional, Mérida, Inés, additional, Redouté, Jérôme, additional, Greusard, Elise, additional, Lamberet, Ludovic, additional, Liotier, Véronique, additional, Le Bars, Didier, additional, Costes, Nicolas, additional, Thobois, Stéphane, additional, Boulinguez, Philippe, additional, and Ballanger, Bénédicte, additional

Published
2023
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30. Behavioural outcomes of subthalamic stimulation and medical therapy versus medical therapy alone for Parkinson's disease with early motor complications (EARLYSTIM trial): secondary analysis of an open-label randomised trial

Author

Negovanska, Velina, Welter, Marie-Laure, Corvol, Jean-Christophe, Agid, Yves, Navarro, Soledad, Meier, Niklaus, Hartmann, Andreas, Hesekamp, Helke, Cornu, Philippe, Möller, Bettina, Nebel, Adelheid, Raethjen, Jan, Knudsen, Karina, Volkmann, Jens, Falk, Daniela, Paschen, Steffen, Meister, Ingo, Kuhn, Jens, Donner, Kerstin, Kessler, Josef, Barbe, Michael, Fink, Gereon, Maarouf, Mohammad, Kühn, Andrea, Müller, Bianca, Faust, Katharina, Gruber, Doreen, Schneider, Gerd-H., Seigneuret, Eric, Pollak, Pierre, Fraix, Valerie, Kistner, Andrea, Rascol, Olivier, Arbus, Christophe, Danet, Lola, Chaynes, Patrick, Groiss, Stefan J., Hartmann, Christian, Südmeyer, Martin, Partowinia-Peters, Mahnaz, Vesper, Jan, Ledily, Severine, Damier, Philippe, Raoul, Sylvie, Trenkwalder, Claudia, Richter-Dreske, Wenke, Wächter, Tobias, Weiss, Daniel, Eusebio, Alexandro, Azulay, Jean Philippe, Polo, Gustavo, Pinto, Serge, Levin, Johannes, Dornier, Stephanie, Pene, Fredy, Hourton, Delphine, Quintin, Mathieu, Hoffart-Jourdain, Cecile, Brocvielle, Helene, Balthasar, Kerstin, Stein, Meryem, Harnisch, Susanne, Reuss, Alexander, Aminossadati, Behnaz, Nasemann, Christian, Oertel, Wolfgang, Bataille, Benoit, Hellwig, Dieter, Gharabaghi, Alireza, Amtage, Florian, Mertens, Patrick, Kloss, Manja, Post, Bart, Speelman, Hans, Lhommée, Eugénie, Wojtecki, Lars, Czernecki, Virginie, Witt, Karsten, Maier, Franziska, Tonder, Lisa, Timmermann, Lars, Hälbig, Thomas D, Pineau, Fanny, Durif, Franck, Witjas, Tatiana, Pinsker, Marcus, Mehdorn, Maximilian, Sixel-Döring, Friederike, Kupsch, Andreas, Krüger, Rejko, Elben, Saskia, Chabardès, Stephan, Thobois, Stéphane, Brefel-Courbon, Christine, Ory-Magne, Fabienne, Regis, Jean-Marie, Maltête, David, Sauvaget, Anne, Rau, Jörn, Schnitzler, Alfons, Schüpbach, Michael, Schade-Brittinger, Carmen, Deuschl, Gunther, Houeto, Jean-Luc, and Krack, Paul

Published
2018
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31. A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?

Author

Mollereau, Bertrand, primary, Hayflick, Susan J, additional, Escalante, Ricardo, additional, Mauthe, Mario, additional, Papandreou, Apostolos, additional, Iuso, Arcangela, additional, Celle, Marion, additional, Aniorte, Sahra, additional, Issa, Abdul Raouf, additional, Lasserre, Jean Paul, additional, Lesca, Gaetan, additional, Thobois, Stéphane, additional, Burger, Pauline, additional, and Walter, Ludivine, additional

Published
2023
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33. Dissociation in reactive and proactive inhibitory control in Myoclonus dystonia

Author

Atkinson-Clement, Cyril, Tarrano, Clement, Porte, Camille-Albane, Wattiez, Nicolas, Delorme, Cécile, McGovern, Eavan M., Brochard, Vanessa, Thobois, Stéphane, Tranchant, Christine, Grabli, David, Degos, Bertrand, Corvol, Jean-Christophe, Pedespan, Jean-Michel, Krystkoviak, Pierre, Houeto, Jean-Luc, Degardin, Adrian, Defebvre, Luc, Valabregue, Romain, Rosso, Charlotte, Apartis, Emmanuelle, Vidailhet, Marie, Pouget, Pierre, Roze, Emmanuel, and Worbe, Yulia

Published
2020
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35. Imbalanced motivated behaviors according to motor sign asymmetry in drug-naïve Parkinson’s Disease

Author

Béreau, Matthieu, primary, Castrioto, Anna, additional, Servant, Mathieu, additional, Lhommée, Eugénie, additional, Desmarets, Maxime, additional, Bichon, Amélie, additional, Pelissier, Pierre, additional, Schmitt, Emmanuelle, additional, Klinger, Hélène, additional, Longato, Nadine, additional, Phillipps, Clélie, additional, Wirth, Thomas, additional, Fraix, Valérie, additional, Benatru, Isabelle, additional, Durif, Franck, additional, Azulay, Jean-Philippe, additional, Moro, Elena, additional, Broussolle, Emmanuel, additional, Thobois, Stéphane, additional, Tranchant, Christine, additional, Krack, Paul, additional, and Anheim, Mathieu, additional

Published
2023
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36. A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?

Author

Fondation Groupam, European Commission, Ministerio de Ciencia e Innovación (España), Agencia Estatal de Investigación (España), Mollereau, Bertrand, Hayflick, Susan J., Escalante, Ricardo, Mauthe, Mario, Papandreou, Apostolos, Luso, Arcangela, Celle, Marion, Aniorte, Sahra, Raouf Issa, Abdul, Lasserre, Jean Paul, Lesca, Gaetan, Thobois, Stéphane, Burger, Pauline, Fondation Groupam, European Commission, Ministerio de Ciencia e Innovación (España), Agencia Estatal de Investigación (España), Mollereau, Bertrand, Hayflick, Susan J., Escalante, Ricardo, Mauthe, Mario, Papandreou, Apostolos, Luso, Arcangela, Celle, Marion, Aniorte, Sahra, Raouf Issa, Abdul, Lasserre, Jean Paul, Lesca, Gaetan, Thobois, Stéphane, and Burger, Pauline

Abstract

Beta-propeller protein-associated neurodegeneration (BPAN) is a rare neurodegenerative disease associated with severe cognitive and motor deficits. BPAN pathophysiology and phenotypic spectrum are still emerging due to the fact that mutations in the WDR45 (WD repeat domain 45) gene, a regulator of macroautophagy/autophagy, were only identified a decade ago. In the first international symposium dedicated to BPAN, which was held in Lyon, France, a panel of international speakers, including several researchers from the autophagy community, presented their work on human patients, cellular and animal models, carrying WDR45 mutations and their homologs. Autophagy researchers found an opportunity to explore the defective function of autophagy mechanisms associated with WDR45 mutations, which underlie neuronal dysfunction and early death. Importantly, BPAN is one of the few human monogenic neurological diseases targeting a regulator of autophagy, which raises the possibility that it is a relevant model to directly assess the roles of autophagy in neurodegeneration and to develop autophagy restorative therapeutic strategies for more common disorders.

Published
2023

49. Fatigue in de novo Parkinson’s Disease: Expanding the Neuropsychiatric Triad?

Author

Béreau, Matthieu, primary, Castrioto, Anna, additional, Lhommée, Eugénie, additional, Maillet, Audrey, additional, Gérazime, Aurélie, additional, Bichon, Amélie, additional, Pélissier, Pierre, additional, Schmitt, Emmanuelle, additional, Klinger, Hélène, additional, Longato, Nadine, additional, Fraix, Valérie, additional, Benatru, Isabelle, additional, Durif, Franck, additional, Azulay, Jean-Philippe, additional, Moro, Elena, additional, Broussolle, Emmanuel, additional, Tranchant, Christine, additional, Anheim, Mathieu, additional, Thobois, Stéphane, additional, and Krack, Paul, additional

Published
2022
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