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152. A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity

Author

Tchikviladzé, Maya, Gilleron, Mylène, Maisonobe, Thierry, Galanaud, Damien, Laforêt, Pascal, Durr, Alexandra, Eymard, Bruno, Mochel, Fanny, Ogier, Hélène, Béhin, Anthony, Stojkovic, Tanya, Degos, Bertrand, Gourfinkel-An, Isabelle, Sedel, Frederic, Anheim, Mathieu, Elbaz, Alexis, Viala, Karine, Vidailhet, Marie, Brice, Alexis, Jardel, Claude, Lombès, Anne, Lemière, Isabelle, Filaut, Sandrine, and Dubourg, Odile

Published
2015
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154. Polymorphism of the dopamine transporter type 1 gene modifies the treatment response in Parkinson’s disease

Author

Moreau, Caroline, Meguig, Sayah, Corvol, Jean-Christophe, Labreuche, Julien, Vasseur, Francis, Duhamel, Alain, Delval, Arnaud, Bardyn, Thomas, Devedjian, Jean-Christophe, Rouaix, Nathalie, Petyt, Gregory, Brefel-Courbon, Christine, Ory-Magne, Fabienne, Guehl, Dominique, Eusebio, Alexandre, Fraix, Valérie, Saulnier, Pierre-Jean, Lagha-Boukbiza, Ouhaid, Durif, Frank, Faighel, Mirela, Giordana, Caroline, Drapier, Sophie, Maltête, David, Tranchant, Christine, Houeto, Jean-Luc, Debû, Bettina, Azulay, Jean-Philippe, Tison, François, Destée, Alain, Vidailhet, Marie, Rascol, Olivier, Dujardin, Kathy, Defebvre, Luc, Bordet, Régis, Sablonnière, Bernard, and Devos, David

Published
2015
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158. Bilateral pallidal deep brain stimulation for the treatment of patients with dystonia-choreoathetosis cerebral palsy: a prospective pilot study

Author

Vidailhet, Marie, Yelnik, Jerome, Lagrange, Christelle, Fraix, Valerie, Grabli, David, Thobois, Stephane, Burbaud, Pierre, Welter, Marie-Laure, Xie-Brustolin, Jin, Braga, Maria-Clara Coelho, Ardouin, Claire, Czernecki, Virginie, Klinger, Hélène, Chabardes, Stephan, Seigneuret, Eric, Mertens, Patrick, Cuny, Emmanuel, Navarro, Soledad, Cornu, Philippe, Benabid, Alim-Louis, LeBas, Jean-Francois, Dormont, Didier, Hermier, Marc, Dujardin, Kathy, Blond, Serge, Krystkowiak, Pierre, Destée, Alain, Bardinet, Eric, Agid, Yves, Krack, Paul, Broussolle, Emmanuel, and Pollak, Pierre

Published
2009
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159. Brain atrophy in prodromal synucleinopathy is shaped by structural connectivity and gene expression.

Author

Rahayel, Shady, Tremblay, Christina, Vo, Andrew, Zheng, Ying Qiu, Lehéricy, Stéphane, Arnulf, Isabelle, Vidailhet, Marie, Corvol, Jean Christophe, Group, ICEBERG Study, Gagnon, Jean François, Postuma, Ronald B, Montplaisir, Jacques, Lewis, Simon, Matar, Elie, Martens, Kaylena Ehgoetz, Borghammer, Per, Knudsen, Karoline, Hansen, Allan, Monchi, Oury, and Misic, Bratislav

Abstract

Isolated REM sleep behaviour disorder (iRBD) is a synucleinopathy characterized by abnormal behaviours and vocalizations during REM sleep. Most iRBD patients develop dementia with Lewy bodies, Parkinson's disease, or multiple system atrophy over time. Patients with iRBD exhibit brain atrophy patterns that are reminiscent of those observed in overt synucleinopathies. However, the mechanisms linking brain atrophy to the underlying alpha-synuclein pathophysiology are poorly understood. Our objective was to investigate how the prion-like and regional vulnerability hypotheses of alpha-synuclein might explain brain atrophy in iRBD. Using a multicentric cohort of 182 polysomnography-confirmed iRBD patients who underwent T1-weighted MRI, we performed vertex-based cortical surface and deformation-based morphometry analyses to quantify brain atrophy in patients (67.8 years, 84% men) and 261 healthy controls (66.2 years, 75%) and investigated the morphological correlates of motor and cognitive functioning in iRBD. Next, we applied the agent-based Susceptible-Infected-Removed model (i.e., a computational model that simulates in silico the spread of pathologic alpha-synuclein based on structural connectivity and gene expression) and tested if it recreated atrophy in iRBD by statistically comparing simulated regional brain atrophy to the atrophy observed in patients. The impact of SNCA and GBA gene expression and brain connectivity was then evaluated by comparing the model fit to the one obtained in null models where either gene expression or connectivity was randomized. The results showed that iRBD patients present with cortical thinning and tissue deformation, which correlated with motor and cognitive functioning. Next, we found that the computational model recreated cortical thinning (r = 0.51, p = 0.0007) and tissue deformation (r = 0.52, p = 0.0005) in patients, and that the connectome's architecture along with SNCA and GBA gene expression contributed to shaping atrophy in iRBD. We further demonstrated that the full agent-based model performed better than network measures or gene expression alone in recreating the atrophy pattern in iRBD. In summary, atrophy in iRBD is extensive, correlates with motor and cognitive function, and can be recreated using the dynamics of agent-based modelling, structural connectivity, and gene expression. These findings support the concepts that both prion-like spread and regional susceptibility account for the atrophy observed in prodromal synucleinopathies. Therefore, the agent-based Susceptible-Infected-Removed model may be a useful tool for testing hypotheses underlying neurodegenerative diseases and new therapies aimed at slowing or stopping the spread of alpha-synuclein pathology. [ABSTRACT FROM AUTHOR]

Published
2022
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162. Predictive modeling of spread in adult‐onset isolated dystonia: Key properties and effect of tremor inclusion

Author

Wang, Meng, primary, Sajobi, Tolulope, additional, Morgante, Francesca, additional, Adler, Charles, additional, Agarwal, Pinky, additional, Bäumer, Tobias, additional, Berardelli, Alfredo, additional, Berman, Brian D., additional, Blumin, Joel, additional, Borsche, Max, additional, Brashear, Allison, additional, Deik, Andres, additional, Duque, Kevin, additional, Espay, Alberto J., additional, Ferrazzano, Gina, additional, Feuerstein, Jeanne, additional, Fox, Susan, additional, Frank, Samuel, additional, Hallett, Mark, additional, Jankovic, Joseph, additional, LeDoux, Mark S., additional, Leegwater‐Kim, Julie, additional, Mahajan, Abhimanyu, additional, Malaty, Irene A., additional, Ondo, William, additional, Pantelyat, Alexander, additional, Pirio‐Richardson, Sarah, additional, Roze, Emmanuel, additional, Saunders‐Pullman, Rachel, additional, Suchowersky, Oksana, additional, Truong, Daniel, additional, Vidailhet, Marie, additional, Shukla, Aparna Wagle, additional, Perlmutter, Joel S., additional, Jinnah, Hyder A., additional, and Martino, Davide, additional

Published
2021
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163. Erratum to: Striatal and cerebellar vesicular acetylcholine transporter expression is disrupted in human DYT1 dystonia

Author

Mazere, Joachim, primary, Dilharreguy, Bixente, additional, Catheline, Gwenaëlle, additional, Vidailhet, Marie, additional, Deffains, Marc, additional, Vimont, Delphine, additional, Ribot, Bastien, additional, Barse, Elodie, additional, Cif, Laura, additional, Mazoyer, Bernard, additional, Langbour, Nicolas, additional, Pisani, Antonio, additional, Allard, Michèle, additional, Lamare, Frédéric, additional, Guehl, Dominique, additional, Fernandez, Philippe, additional, and Burbaud, Pierre, additional

Published
2021
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164. A Multi‐center Genome‐wide Association Study of Cervical Dystonia

Author

Sun, Yan V., primary, Li, Chengchen, additional, Hui, Qin, additional, Huang, Yunfeng, additional, Barbano, Richard, additional, Rodriguez, Ramon, additional, Malaty, Irene A., additional, Reich, Stephen, additional, Bambarger, Kimberly, additional, Holmes, Katie, additional, Jankovic, Joseph, additional, Patel, Neepa J., additional, Roze, Emmanuel, additional, Vidailhet, Marie, additional, Berman, Brian D., additional, LeDoux, Mark S., additional, Espay, Alberto J., additional, Agarwal, Pinky, additional, Pirio‐Richardson, Sarah, additional, Frank, Samuel A., additional, Ondo, William G., additional, Saunders‐Pullman, Rachel, additional, Chouinard, Sylvain, additional, Natividad, Stover, additional, Berardelli, Alfredo, additional, Pantelyat, Alexander Y., additional, Brashear, Allison, additional, Fox, Susan H., additional, Kasten, Meike, additional, Krämer, Ulrike M., additional, Neis, Miriam, additional, Bäumer, Tobias, additional, Loens, Sebastian, additional, Borsche, Max, additional, Zittel, Simone, additional, Maurer, Antonia, additional, Gelderblom, Mathias, additional, Volkmann, Jens, additional, Odorfer, Thorsten, additional, Kühn, Andrea A., additional, Borngräber, Friederike, additional, König, Inke R., additional, Cruchaga, Carlos, additional, Cotton, Adam C., additional, Kilic‐Berkmen, Gamze, additional, Freeman, Alan, additional, Factor, Stewart A., additional, Scorr, Laura, additional, Bremner, J. Douglas, additional, Vaccarino, Viola, additional, Quyyumi, Arshed A., additional, Klein, Christine, additional, Perlmutter, Joel S., additional, Lohmann, Katja, additional, and Jinnah, Hyder A., additional

Published
2021
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167. The spatiotemporal changes in dopamine, neuromelanin and iron characterizing Parkinson's disease

Author

Biondetti, Emma, Santin, Mathieu D., Valabrègue, Romain, Mangone, Graziella, Gaurav, Rahul, Pyatigorskaya, Nadya, Hutchison, Matthew, Yahia-Cherif, Lydia, Villain, Nicolas, Habert, Marie-Odile, Arnulf, Isabelle, Leu-Semenescu, Smaranda, Dodet, Pauline, Vila Bover, Miquel, Corvol, Jean-Christophe, Vidailhet, Marie, Lehéricy, Stéphane, Universitat Autònoma de Barcelona, Biondetti, Emma, Santin, Mathieu D., Valabrègue, Romain, Mangone, Graziella, Gaurav, Rahul, Pyatigorskaya, Nadya, Hutchison, Matthew, Yahia-Cherif, Lydia, Villain, Nicolas, Habert, Marie-Odile, Arnulf, Isabelle, Leu-Semenescu, Smaranda, Dodet, Pauline, Vila Bover, Miquel, Corvol, Jean-Christophe, Vidailhet, Marie, Lehéricy, Stéphane, and Universitat Autònoma de Barcelona

Abstract

In Parkinson's disease, there is a progressive reduction in striatal dopaminergic function, and loss of neuromelanin-containing dopaminergic neurons and increased iron deposition in the substantia nigra. We tested the hypothesis of a relationship between impairment of the dopaminergic system and changes in the iron metabolism. Based on imaging data of patients with prodromal and early clinical Parkinson's disease, we assessed the spatiotemporal ordering of such changes and relationships in the sensorimotor, associative and limbic territories of the nigrostriatal system. Patients with Parkinson's disease (disease duration < 4 years) or idiopathic REM sleep behaviour disorder (a prodromal form of Parkinson's disease) and healthy controls underwent longitudinal examination (baseline and 2-year follow-up). Neuromelanin and iron sensitive MRI and dopamine transporter single-photon emission tomography were performed to assess nigrostriatal levels of neuromelanin, iron, and dopamine. For all three functional territories of the nigrostriatal system, in the clinically most and least affected hemispheres separately, the following was performed: cross-sectional and longitudinal intergroup difference analysis of striatal dopamine and iron, and nigral neuromelanin and iron; in Parkinson's disease patients, exponential fitting analysis to assess the duration of the prodromal phase and the temporal ordering of changes in dopamine, neuromelanin or iron relative to controls; and voxel-wise correlation analysis to investigate concomitant spatial changes in dopamine-iron, dopamine-neuromelanin and neuromelanin-iron in the substantia nigra pars compacta. The temporal ordering of dopaminergic changes followed the known spatial pattern of progression involving first the sensorimotor, then the associative and limbic striatal and nigral regions. Striatal dopaminergic denervation occurred first followed by abnormal iron metabolism and finally neuromelanin changes in the substantia nigra par

Published
2021

168. Loss of floor plate Netrin-1 impairs midline crossing of corticospinal axons and leads to mirror movements

Author

Agence Nationale de la Recherche (France), Merz Pharma, Fondation pour la Recherche Médicale, Pourchet, Oriane, Morel, Marie-Pierre, Welniarz, Quentin, Sarrazin, Nadège, Marti, Fabio, Heck, Nicolas, Galléa, Cécile, Doulazmi, Mohamed, Roig-Puiggros, Sergi, Moreno-Bravo, Juan Antonio, Vidailhet, Marie, Trembleau, Alain, Faure, Philippe, Chédotal, Alain, Roze, Emmanuel, Dusart, Isabelle, Agence Nationale de la Recherche (France), Merz Pharma, Fondation pour la Recherche Médicale, Pourchet, Oriane, Morel, Marie-Pierre, Welniarz, Quentin, Sarrazin, Nadège, Marti, Fabio, Heck, Nicolas, Galléa, Cécile, Doulazmi, Mohamed, Roig-Puiggros, Sergi, Moreno-Bravo, Juan Antonio, Vidailhet, Marie, Trembleau, Alain, Faure, Philippe, Chédotal, Alain, Roze, Emmanuel, and Dusart, Isabelle

Abstract

In humans, execution of unimanual movements requires lateralized activation of the primary motor cortex, which then transmits the motor command to the contralateral hand through the crossed corticospinal tract (CST). Mutations in NTN1 alter motor control lateralization, leading to congenital mirror movements. To address the role of midline Netrin-1 on CST development and subsequent motor control, we analyze the morphological and functional consequences of floor plate Netrin-1 depletion in conditional knockout mice. We show that depletion of floor plate Netrin-1 in the brainstem critically disrupts CST midline crossing, whereas the other commissural systems are preserved. The only associated defect is an abnormal entry of CST axons within the inferior olive. Alteration of CST midline crossing results in functional ipsilateral projections and is associated with abnormal symmetric movements. Our study reveals the role of Netrin-1 in CST development and describes a mouse model recapitulating the characteristics of human congenital mirror movements.

Published
2021

174. Parkinson's disease polygenic risk score is not associated with impulse control disorders: A longitudinal study

Author

Corvol, Jean-Christophe, Elbaz, Alexis, Vidailhet, Marie, Brice, Alexis, Artaud, Fanny, Bourdain, Frédéric, Brandel, Jean-Philippe, Derkinderen, Pascal, Durif, Franck, Levy, Richard, Pico, Fernando, Rascol, Olivier, Bonnet, Anne-Marie, Bonnet, Cecilia, Brefel-Courbon, Christine, Cormier-Dequaire, Florence, Degos, Bertrand, Debilly, Bérangère, Galitsky, Monique, Grabli, David, Hartmann, Andreas, Klebe, Stephan, Kraemmer, Julia, Lacomblez, Lucette, Leder, Sara, Mangone, Graziella, Mariani, Louise-Laure, Marques, Ana-Raquel, Mesnage, Valérie, Muellner, Julia, Ory-Magne, Fabienne, Planté-Bordeneuve, Violaine, Roze, Emmanuel, Tir, Melissa, You, Hana, Benchetrit, Eve, Socha, Julie, Pineau, Fanny, Vidal, Tiphaine, Pomies, Elsa, Bayet, Virginie, Lesage, Suzanne, Tahiri, Khadija, Bertrand, Hélène, Mallet, Alain, Villeret, Coralie, Mazmanian, Merry, Manseur, Hakima, Hajji, Mostafa, Le Toullec, Benjamin, Brochard, Vanessa, Roy, Monica, Rieu, Isabelle, Bernard, Stéphane, Faurie-Grepon, Antoine, Ihle, J., Artaud, F., Bekadar, S., Mangone, G., Sambin, S., Mariani, LL, Bertrand, H., Rascol, O., Durif, F., Derkinderen, P., Scherzer, C., Elbaz, A., and Corvol, JC

Published
2020
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177. The spatiotemporal changes in dopamine, neuromelanin and iron characterizing Parkinson’s disease

Author

Biondetti, Emma, primary, Santin, Mathieu D, additional, Valabrègue, Romain, additional, Mangone, Graziella, additional, Gaurav, Rahul, additional, Pyatigorskaya, Nadya, additional, Hutchison, Matthew, additional, Yahia-Cherif, Lydia, additional, Villain, Nicolas, additional, Habert, Marie-Odile, additional, Arnulf, Isabelle, additional, Leu-Semenescu, Smaranda, additional, Dodet, Pauline, additional, Vila, Miquel, additional, Corvol, Jean-Christophe, additional, Vidailhet, Marie, additional, and Lehéricy, Stéphane, additional

Published
2021
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179. Trans‐Spinal Direct Current Stimulation for Managing Primary Orthostatic Tremor

Author

Lamy, Jean‐Charles, primary, Varriale, Pasquale, additional, Apartis, Emmanuelle, additional, Mehdi, Sophien, additional, Blancher‐Meinadier, Anne, additional, Kosutzka, Zuzana, additional, Degos, Bertrand, additional, Frismand, Solène, additional, Simonetta‐Moreau, Marion, additional, Meunier, Sabine, additional, Roze, Emmanuel, additional, and Vidailhet, Marie, additional

Published
2021
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180. Longitudinal Changes in Neuromelanin MRI Signal in Parkinson's Disease: A Progression Marker

Author

Gaurav, Rahul, primary, Yahia‐Cherif, Lydia, additional, Pyatigorskaya, Nadya, additional, Mangone, Graziella, additional, Biondetti, Emma, additional, Valabrègue, Romain, additional, Ewenczyk, Claire, additional, Hutchison, R. Matthew, additional, Cedarbaum, Jesse M., additional, Corvol, Jean‐Christophe, additional, Vidailhet, Marie, additional, and Lehéricy, Stéphane, additional

Published
2021
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181. 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

182. Subcortical Myoclonus and Associated Dystonia in 22q11.2 Deletion Syndrome

Author

Van Iseghem, Vincent, McGovern, Eavan, Apartis, Emmanuelle, Keren, Boris, Vidailhet, Marie, Roze, Emmanuel, and Degos, Bertrand

Subjects
Adult, Myoclonus, lcsh:Diseases of the musculoskeletal system, ADULTS, myoclonus, lcsh:RC346-429, 2 deletion syndrome, 22q11, New Observations Letter, DiGeorge Syndrome, Medicine and Health Sciences, Humans, Female, dystonia, lcsh:RC925-935, lcsh:Neurology. Diseases of the nervous system
Abstract

Keywords: Myoclonus, dystonia, 22q11, 2 deletion syndrome Citation: Van Iseghem V, McGovern E, Apartis E, Keren B, Vidailhet M, Roze E, et al. Subcortical myoclonus and associated dystonia in 22q11.2 deletion syndrome. Tremor Other Hyperkinet Mov. 2020; 10. doi: 10.7916/tohm.v0.729, Tremor and Other Hyperkinetic Movements, Tremor and Other Hyperkinetic Movements

Published
2020

183. 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

184. Deep Brain Stimulation for Freezing of Gait in Parkinson's Disease With Early Motor Complications

Author

Barbe, Michael T., Tonder, Lisa, Krack, Paul, Debu, Bettina, Schupbach, Michael, Paschen, Steffen, Dembek, Till A., Kuehn, Andrea A., Fraix, Valerie, Brefel-Courbon, Christine, Wojtecki, Lars, Maltete, David, Damier, Phillippe, Sixel-Doering, Friederike, Weiss, Daniel, Pinsker, Marcus, Witjas, Tatiana, Thobois, Stephane, Schade-Brittinger, Carmen, Rau, Joern, Houeto, Jean-Luc, Hartmann, Andreas, Timmermann, Lars, Schnitzler, Alfons, Stoker, Valerie, Vidailhet, Marie, Deuschl, Guenther, Knudsen, K., Volkmann, J., Falk, D., Mehdorn, M., Haelbig, T. D., Hesekamp, H., Navarro, S. M., Meier, N., Agid, Y., Seigneuret, E., Kistner, A., Chaynes, P., Ory-Magne, F., Bataille, B., Raoul, S., Regis, J. -M., Mertens, P., Helwig, D., Oertel, W. H., Maarouf, M., Fink, G. R., Kupsch, A., Gruber, D., Schneider, G. -H., Vesper, J., Gharabaghi, A., Krueger, R., Amtage, F., Barbe, Michael T., Tonder, Lisa, Krack, Paul, Debu, Bettina, Schupbach, Michael, Paschen, Steffen, Dembek, Till A., Kuehn, Andrea A., Fraix, Valerie, Brefel-Courbon, Christine, Wojtecki, Lars, Maltete, David, Damier, Phillippe, Sixel-Doering, Friederike, Weiss, Daniel, Pinsker, Marcus, Witjas, Tatiana, Thobois, Stephane, Schade-Brittinger, Carmen, Rau, Joern, Houeto, Jean-Luc, Hartmann, Andreas, Timmermann, Lars, Schnitzler, Alfons, Stoker, Valerie, Vidailhet, Marie, Deuschl, Guenther, Knudsen, K., Volkmann, J., Falk, D., Mehdorn, M., Haelbig, T. D., Hesekamp, H., Navarro, S. M., Meier, N., Agid, Y., Seigneuret, E., Kistner, A., Chaynes, P., Ory-Magne, F., Bataille, B., Raoul, S., Regis, J. -M., Mertens, P., Helwig, D., Oertel, W. H., Maarouf, M., Fink, G. R., Kupsch, A., Gruber, D., Schneider, G. -H., Vesper, J., Gharabaghi, A., Krueger, R., and Amtage, F.

Abstract

Background Effects of DBS on freezing of gait and other axial signs in PD patients are unclear. Objective Secondary analysis to assess whether DBS affects these symptoms within a large randomized controlled trial comparing DBS of the STN combined with best medical treatment and best medical treatment alone in patients with early motor complications (EARLYSTIM-trial). Methods One hundred twenty-four patients were randomized in the stimulation group and 127 patients in the best medical treatment group. Presence of freezing of gait was assessed in the worst condition based on item-14 of the UPDRS-II at baseline and follow-up. The posture, instability, and gait-difficulty subscore of the UPDRS-III, and a gait test including quantification of freezing of gait and number of steps, were performed in both medication-off and medication-on conditions. Results Fifty-two percent in both groups had freezing of gait at baseline based on UPDRS-II. This proportion decreased in the stimulation group to 34%, but did not change in the best medical treatment group at 24 months (P = 0.018). The steps needed to complete the gait test decreased in the stimulation group and was superior to the best medical treatment group (P = 0.016). The axial signs improved in the stimulation group compared to the best medical treatment group (P < 0.01) in both medication-off and medication-on conditions. Conclusions Within the first 2 years of DBS, freezing of gait and other axial signs improved in the medication-off condition compared to best medical treatment in these patients. (c) 2019 International Parkinson and Movement Disorder Society

Published
2020

187. Bilateral, pallidal, deep-brain stimulation in primary generalised dystonia: a prospective 3 year follow-up study

Author

Vidailhet, Marie, Vercueil, Laurent, Houeto, Jean-Luc, Krystkowiak, Pierre, Lagrange, Christelle, Yelnik, Jerôme, Bardinet, Eric, Benabid, Alim-Louis, Navarro, Soledad, Dormont, Didier, Grand, Sylvie, Blond, Serge, Ardouin, Claire, Pillon, Bernard, Dujardin, Katy, Hahn-Barma, Valérie, Agid, Yves, Destée, Alain, and Pollak, Pierre

Published
2007
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188. Striatal and cerebellar vesicular acetylcholine transporter expression is disrupted in human DYT1 dystonia

Author

Mazere, Joachim, primary, Dilharreguy, Bixente, additional, Catheline, Gwenaëlle, additional, Vidailhet, Marie, additional, Deffains, Marc, additional, Vimont, Delphine, additional, Ribot, Bastien, additional, Barse, Elodie, additional, Cif, Laura, additional, Mazoyer, Bernard, additional, Langbour, Nicolas, additional, Pisani, Antonio, additional, Allard, Michèle, additional, Lamare, Frédéric, additional, Guehl, Dominique, additional, Fernandez, Philippe, additional, and Burbaud, Pierre, additional

Published
2021
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190. Quality of life in isolated dystonia: non-motor manifestations matter

Author

Junker, Johanna, primary, Berman, Brian D, additional, Hall, James, additional, Wahba, Deena W, additional, Brandt, Valerie, additional, Perlmutter, Joel S, additional, Jankovic, Joseph, additional, Malaty, Irene A, additional, Wagle Shukla, Aparna, additional, Reich, Stephen G, additional, Espay, Alberto J, additional, Duque, Kevin R, additional, Patel, Neepa, additional, Roze, Emmanuel, additional, Vidailhet, Marie, additional, Jinnah, H.A., additional, and Brüggemann, Norbert, additional

Published
2021
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192. Loss of floor plate Netrin-1 impairs midline crossing of corticospinal axons and leads to mirror movements

Author

Pourchet, Oriane, primary, Morel, Marie-Pierre, additional, Welniarz, Quentin, additional, Sarrazin, Nadège, additional, Marti, Fabio, additional, Heck, Nicolas, additional, Galléa, Cécile, additional, Doulazmi, Mohamed, additional, Roig Puiggros, Sergi, additional, Moreno-Bravo, Juan Antonio, additional, Vidailhet, Marie, additional, Trembleau, Alain, additional, Faure, Philippe, additional, Chédotal, Alain, additional, Roze, Emmanuel, additional, and Dusart, Isabelle, additional

Published
2021
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195. Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia

Author

Vidailhet, Marie, Vercueil, Laurent, Houeto, Jean-Luc, Krystkowiak, Pierre, Benabid, Alim-Louis, Cornu, Philippe, Lagrange, Christelle, Montcel, Sophie Tezenas du, Dormont, Didier, Grand, Sylvie, Blond, Serge, Detante, Olivier, Pillon, Bernard, Ardouin, Claire, Agid, Yves, Destee, Alain, and Pollak, Pierre

Subjects
Brain diseases -- Care and treatment, Dystonia -- Care and treatment
Abstract

A prospective, controlled, multicenter study is conducted to assess the efficacy and safety of bilateral pallidal stimulation in 22 patients with primary generalized dystonia. The results reveal that the general health and physical functioning improved and there are no significant changes in measures of mood and cognition.

Published
2005

200. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

Author

Nicolas, Gaël, Pottier, Cyril, Charbonnier, Camille, Guyant-Maréchal, Lucie, Le Ber, Isabelle, Pariente, Jérémie, Labauge, Pierre, Ayrignac, Xavier, Defebvre, Luc, Maltête, David, Martinaud, Olivier, Lefaucheur, Romain, Guillin, Olivier, Wallon, David, Chaumette, Boris, Rondepierre, Philippe, Derache, Nathalie, Fromager, Guillaume, Schaeffer, Stéphane, Krystkowiak, Pierre, Verny, Christophe, Jurici, Snejana, Sauvée, Mathilde, Vérin, Marc, Lebouvier, Thibaud, Rouaud, Olivier, Thauvin-Robinet, Christel, Rousseau, Stéphane, Rovelet-Lecrux, Anne, Frebourg, Thierry, Campion, Dominique, Hannequin, Didier, Ahtoy, Patrick, Anheim, Mathieu, Augustin, Jérôme, Ayrignac, Xavier, Bille-Turc, Françoise, Campion, Dominique, Chaumette, Boris, Clanet, Michel, Defebvre, Luc, Defer, Gilles, Derache, Nathalie, Didic, Mira, Durif, Franck, Flamand-Roze, Emmanuel, Fromager, Guillaume, Giroud, Maurice, Goldenberg, Alice, Guillin, Olivier, Guyant-Maréchal, Lucie, Hannequin, Didier, Hubsch, Cécile, Jurici, Snejana, Krystkowiak, Pierre, Labauge, Pierre, Layet, Antoine, Le Ber, Isabelle, Lebouvier, Thibaud, Lefaucheur, Romain, Maltête, David, Morcamp, Olivier Martinaud Donald, Nicolas, Gaël, Ozkul, Ozlem, Pariente, Jérémie, Pottier, Cyril, Rondepierre, Philippe, Rouaud, Olivier, Sallé, Brigitte, Sauvée, Mathilde, Schaeffer, Stéphane, Thauvin-Robinet, Christel, Thomas-Antérion, Catherine, Tranchant, Christine, Triquenot, Aude, Vaschalde, Yvan, Vérin, Marc, Verny, Christophe, Vidailhet, Marie, and Wallon, David

Published
2013
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