Search

Your search keyword '"Vidailhet, Marie"' showing total 1,572 results
Start Over Author "Vidailhet, Marie"
1,572 results on '"Vidailhet, Marie"'

1. A simple EEG-based decision tool for neonatal therapeutic hypothermia in hypoxic-ischemic encephalopathy

Author

Fiammante, Marc, Vermersch, Anne-Isabelle, Vidailhet, Marie, and Chavez, Mario

Subjects
Quantitative Biology - Neurons and Cognition
Abstract

Indication of therapeutic hypothermia needs an accurate identification of brain injury in the early neonatal period. Here, we aim to provide a simple hypothermia decision-making tool for the term neonates with hypoxic-ischemic encephalopathy (HIE) based on features of conventional electroencephalogram (EEG) taken less than 6 hours from birth. EEG recordings from one hundred full-term babies with HIE were included in the study. Each EEG recording was graded by pediatric neurologists for HIE severity. Amplitude of each EEG segment was analyzed in the slow frequency bands. Temporal fluctuations of spectral power in delta (0.5 - 4 Hz) frequency band was used to characterize each HIE grade. For each grade of abnormality, we estimated level and duration (number of consecutive segments above a given level) probability densities for power of delta oscillations. These 2D representation of EEG dynamics can identify mild HIE group from those of requiring hypothermia. Our discrimination system yielded an accuracy, recall, positive predictive value (precision), negative predictive value, false alarm ratio and F1-score of 98%, 99%, 99%, 0.94%, 0.06 and 99%, respectively. These results provided an accurate discrimination of mild versus moderate or severe HIE, and only one mild case was erroneously detected as relevant for hypothermia. Quantized probability densities of slow spectral features (delta power) from early conventional EEG (withing 6 hours of birth) revealed significant differences in slow spectral dynamics between infants with mild HIE grades and those relevant for hypothermia., Comment: 20 pages, 1 table, 2 figures

Published
2024

3. Prognosis of impulse control disorders in Parkinson’s disease: a prospective controlled study

Author

Wirth, Thomas, Goetsch, Thibaut, Corvol, Jean-Christophe, Roze, Emmanuel, Mariani, Louise-Laure, Vidailhet, Marie, Grabli, David, Mallet, Luc, Pelissolo, Antoine, Rascol, Olivier, Brefel-Courbon, Christine, Ory-Magne, Fabienne, Arbus, Christophe, Bekadar, Samir, Krystkowiak, Pierre, Marques, Ana, Llorca, Michel, Krack, Paul, Castrioto, Anna, Fraix, Valérie, Maltete, David, Defebvre, Luc, Kreisler, Alexandre, Houeto, Jean-Luc, Tranchant, Christine, Meyer, Nicolas, and Anheim, Mathieu

Published
2024
Full Text
View/download PDF

5. Genotype–phenotype correlation in PRKN-associated Parkinson’s disease

Author

Menon, Poornima Jayadev, Sambin, Sara, Criniere-Boizet, Baptiste, Courtin, Thomas, Tesson, Christelle, Casse, Fanny, Ferrien, Melanie, Mariani, Louise-Laure, Carvalho, Stephanie, Lejeune, Francois-Xavier, Rebbah, Sana, Martet, Gaspard, Houot, Marion, Lanore, Aymeric, Mangone, Graziella, Roze, Emmanuel, Vidailhet, Marie, Aasly, Jan, Gan Or, Ziv, Yu, Eric, Dauvilliers, Yves, Zimprich, Alexander, Tomantschger, Volker, Pirker, Walter, Álvarez, Ignacio, Pastor, Pau, Di Fonzo, Alessio, Bhatia, Kailash P., Magrinelli, Francesca, Houlden, Henry, Real, Raquel, Quattrone, Andrea, Limousin, Patricia, Korlipara, Prasad, Foltynie, Thomas, Grosset, Donald, Williams, Nigel, Narendra, Derek, Lin, Hsin-Pin, Jovanovic, Carna, Svetel, Marina, Lynch, Timothy, Gallagher, Amy, Vandenberghe, Wim, Gasser, Thomas, Brockmann, Kathrin, Morris, Huw R., Borsche, Max, Klein, Christine, Corti, Olga, Brice, Alexis, Lesage, Suzanne, and Corvol, Jean Christophe

Published
2024
Full Text
View/download PDF

7. Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)

Author

Nanetti, Lorenzo, Kearney, Mary, Boesch, Sylvia, Stovickova, Lucie, Ortigoza-Escobar, Juan Darío, Macaya, Alfons, Gomez-Andres, David, Roze, Emmanuel, Molnar, Maria-Judit, Wolf, Nicole I., Darling, Alejandra, Vasco, Gessica, Bertini, Enrico, Indelicato, Elisabetta, Neubauer, David, Haack, Tobias B., Sagi, Judit C., Danti, Federica R., Sival, Deborah, Zanni, Ginevra, Kolk, Anneli, Boespflug-Tanguy, Odile, Schols, Ludger, van de Warrenburg, Bart, Vidailhet, Marie, Willemsen, Michèl A., Buizer, Annemieke I., Orzes, Enrico, Ripp, Sophie, Reinhard, Carola, Moroni, Isabella, and Mariotti, Caterina

Published
2024
Full Text
View/download PDF

9. 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
Full Text
View/download PDF

10. 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
Full Text
View/download PDF

11. Levodopa-induced dyskinesia in Parkinson's disease: Insights from cross-cohort prognostic analysis using machine learning

Author

Acharya, Geeta, Aguayo, Gloria, Alexandre, Myriam, Ali, Muhammad, Ammerlann, Wim, Arena, Giuseppe, Bassis, Michele, Batutu, Roxane, Beaumont, Katy, Béchet, Sibylle, Berchem, Guy, Bisdorff, Alexandre, Boussaad, Ibrahim, Bouvier, David, Castillo, Lorieza, Contesotto, Gessica, DE Bremaeker, Nancy, Dewitt, Brian, Diederich, Nico, Dondelinger, Rene, Ramia, Nancy E., Ferrari, Angelo, Frauenknecht, Katrin, Fritz, Joëlle, Gamio, Carlos, Gantenbein, Manon, Gawron, Piotr, Georges, Laura, Ghosh, Soumyabrata, Giraitis, Marijus, Glaab, Enrico, Goergen, Martine, Gómez DE Lope, Elisa, Graas, Jérôme, Graziano, Mariella, Groues, Valentin, Grünewald, Anne, Hammot, Gaël, Anne-Marie, H.A.N.F.F., Hansen, Linda, Heneka, Michael, Henry, Estelle, Henry, Margaux, Herbrink, Sylvia, Herzinger, Sascha, Hundt, Alexander, Jacoby, Nadine, Jónsdóttir, Sonja, Klucken, Jochen, Kofanova, Olga, Krüger, Rejko, Lambert, Pauline, Landoulsi, Zied, Lentz, Roseline, Longhino, Laura, Lopes, Ana Festas, Lorentz, Victoria, Marques, Tainá M., Marques, Guilherme, Martins Conde, Patricia, Patrick, M.A.Y., Mcintyre, Deborah, Mediouni, Chouaib, Meisch, Francoise, Mendibide, Alexia, Menster, Myriam, Minelli, Maura, Mittelbronn, Michel, Mtimet, Saïda, Munsch, Maeva, Nati, Romain, Nehrbass, Ulf, Nickels, Sarah, Nicolai, Beatrice, Jean-Paul, N.I.C.O.L.A.Y., Noor, Fozia, Gomes, Clarissa P.C., Pachchek, Sinthuja, Pauly, Claire, Pauly, Laure, Pavelka, Lukas, Perquin, Magali, Pexaras, Achilleas, Rauschenberger, Armin, Rawal, Rajesh, Reddy Bobbili, Dheeraj, Remark, Lucie, Richard, Ilsé, Roland, Olivia, Roomp, Kirsten, Rosales, Eduardo, Sapienza, Stefano, Satagopam, Venkata, Schmitz, Sabine, Schneider, Reinhard, Schwamborn, Jens, Severino, Raquel, Sharify, Amir, Soare, Ruxandra, Soboleva, Ekaterina, Sokolowska, Kate, Theresine, Maud, Thien, Hermann, Thiry, Elodie, Ting Jiin Loo, Rebecca, Trouet, Johanna, Tsurkalenko, Olena, Vaillant, Michel, Vega, Carlos, Vilas Boas, Liliana, Wilmes, Paul, Wollscheid-Lengeling, Evi, Zelimkhanov, Gelani, Loo, Rebecca Ting Jiin, Mangone, Graziella, Khoury, Fouad, Vidailhet, Marie, and Corvol, Jean-Christophe

Published
2024
Full Text
View/download PDF

12. Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice

Author

Amato, María Eugenia, Darling, Alejandra, Stovickova, Lucie, Attard, Stephen, Eggink, Hendriekje, Engelen, Marc, Freilinger, Michael, Grosso, Salvatore, Hadzsiev, Kinga, Moroni, Isabella, Nardocci, Nardo, Neubauer, David, Nicita, Francesco, Pagliano, Emanuela, Siegert, Sandy, Soler, Doriette, van de Pol, Laura A., Vasco, Gessica, Vidailhet, Marie, Willemsen, Michel AAP., Zibordi, Federica, Zorzi, Giovanna, Zumrova, Alena, Reinhard, Carola, Sevin, Caroline, Wolf, Nicole, Rodriguez-Blazquez, Carmen, Sival, Deborah A., and Ortigoza-Escobar, Juan Darío

Published
2024
Full Text
View/download PDF

14. Sustained reduction of essential tremor with low-power non-thermal transcranial focused ultrasound stimulations in humans

Author

Bancel, Thomas, Béranger, Benoît, Daniel, Maxime, Didier, Mélanie, Santin, Mathieu, Rachmilevitch, Itay, Shapira, Yeruham, Tanter, Mickael, Bardinet, Eric, Fernandez Vidal, Sara, Attali, David, Galléa, Cécile, Dizeux, Alexandre, Vidailhet, Marie, Lehéricy, Stéphane, Grabli, David, Pyatigorskaya, Nadya, Karachi, Carine, Hainque, Elodie, and Aubry, Jean-François

Published
2024
Full Text
View/download PDF

15. X-vectors: New Quantitative Biomarkers for Early Parkinson's Disease Detection from Speech

Author

Jeancolas, Laetitia, Petrovska-Delacrétaz, Dijana, Mangone, Graziella, Benkelfat, Badr-Eddine, Corvol, Jean-Christophe, Vidailhet, Marie, Lehéricy, Stéphane, and Benali, Habib

Subjects
Electrical Engineering and Systems Science - Audio and Speech Processing, Computer Science - Sound, Quantitative Biology - Quantitative Methods
Abstract

Many articles have used voice analysis to detect Parkinson's disease (PD), but few have focused on the early stages of the disease and the gender effect. In this article, we have adapted the latest speaker recognition system, called x-vectors, in order to detect an early stage of PD from voice analysis. X-vectors are embeddings extracted from a deep neural network, which provide robust speaker representations and improve speaker recognition when large amounts of training data are used. Our goal was to assess whether, in the context of early PD detection, this technique would outperform the more standard classifier MFCC-GMM (Mel-Frequency Cepstral Coefficients - Gaussian Mixture Model) and, if so, under which conditions. We recorded 221 French speakers (including recently diagnosed PD subjects and healthy controls) with a high-quality microphone and with their own telephone. Men and women were analyzed separately in order to have more precise models and to assess a possible gender effect. Several experimental and methodological aspects were tested in order to analyze their impacts on classification performance. We assessed the impact of audio segment duration, data augmentation, type of dataset used for the neural network training, kind of speech tasks, and back-end analyses. X-vectors technique provided better classification performances than MFCC-GMM for text-independent tasks, and seemed to be particularly suited for the early detection of PD in women (7 to 15% improvement). This result was observed for both recording types (high-quality microphone and telephone)., Comment: Submitted

Published
2020
Full Text
View/download PDF

19. 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
Full Text
View/download PDF

20. Acoustic, Perceptual and Clinical Correlates of Speech and Voice in Isolated Dystonia: Preliminary Findings

Author

Cuartero, Marie-Charlotte, Bertrand, Roxane, Rauzy, Stéphane, Véron-Delor, Lauriane, Atkinson-Clement, Cyril, Grabli, David, Vidailhet, Marie, and Pinto, Serge

Abstract

Background: Hyperkinetic dysarthria is often present in isolated dystonia (ID) and is still understudied. Four main clusters of deviant speech dimensions in dystonia hyperkinetic dysarthria were initially provided: articulatory inaccuracy, phonatory stenosis, prosodic excess and prosodic insufficiency. Aim: The aim of our exploratory study was to provide preliminary data on both perceptual and acoustic analyses in relation to three out of these four main clusters. Methods & Procedures: Eleven patients with ID and 11 healthy controls (HC) participated in this study. Clinical/perceptual assessments and acoustic analyses of speech recordings were performed, the latter allowing for the analysis of parameters referring to aerophonatory control, voice quality, prosodic features and speech intelligibility estimated by nine listeners. Between-group statistical comparisons were performed (Wilcoxon tests, p < 0.05). Single-case differences between each patient and the control group were also carried out (effect size index and t < 0.05). Outcomes & Results: Between-group comparisons confirmed the presence of a 'phonatory stenosis'; in addition, deficit in aerophonatory control and hypophonia was also displayed. 'Prosodic insufficiency' was confirmed, but not at the individual level. 'Prosodic excess' manifested only in patients with marked and severe dysarthria. Correlations between altered maximum phonation time, loudness variation, speech and articulatory rates on the one hand, and several clinical speech assessments on the other hand, were also found. Conclusions & Implications: From these findings, altogether, perceptual characteristics of hyperkinetic dysarthria, as suggested by Darley et al., were quantified by the acoustic parameters we measured. As regards to our data obtained in a small participant sample, we would suggest that Darley et al.'s clusters of excess and insufficiency prosody should be questioned in future studies involving larger numbers of dystonic patients. Our study provides novel and preliminary results that demonstrate the relevance of using quantitative measures to further characterise speech/voice deficits in patients with ID.

Published
2021
Full Text
View/download PDF

21. Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Author

Ramos, Eliana Marisa, Carecchio, Miryam, Lemos, Roberta, Ferreira, Joana, Legati, Andrea, Sears, Renee Louise, Hsu, Sandy Chan, Panteghini, Celeste, Magistrelli, Luca, Salsano, Ettore, Esposito, Silvia, Taroni, Franco, Richard, Anne-Claire, Tranchant, Christine, Anheim, Mathieu, Ayrignac, Xavier, Goizet, Cyril, Vidailhet, Marie, Maltete, David, Wallon, David, Frebourg, Thierry, Pimentel, Lylyan, Geschwind, Daniel H, Vanakker, Olivier, Galasko, Douglas, Fogel, Brent L, Innes, A Micheil, Ross, Alison, Dobyns, William B, Alcantara, Diana, O'Driscoll, Mark, Hannequin, Didier, Campion, Dominique, French PFBC study group, Oliveira, João R, Garavaglia, Barbara, Coppola, Giovanni, and Nicolas, Gaël

Subjects
French PFBC study group, Humans, Brain Diseases, Calcinosis, Receptor, Platelet-Derived Growth Factor beta, Proto-Oncogene Proteins c-sis, Receptors, G-Protein-Coupled, Receptors, Virus, Pedigree, Heterozygote, Phenotype, Mutation, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Female, Male, Sodium-Phosphate Cotransporter Proteins, Type III, Genetic Variation, Young Adult, Cognitive Dysfunction, Receptor, Platelet-Derived Growth Factor beta, Receptors, G-Protein-Coupled, Virus, and over, Sodium-Phosphate Cotransporter Proteins, Type III, Genetics, Genetics & Heredity, Clinical Sciences
Abstract

Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with a wide spectrum of motor, cognitive, and neuropsychiatric symptoms. It is typically inherited as an autosomal-dominant trait with four causative genes identified so far: SLC20A2, PDGFRB, PDGFB, and XPR1. Our study aimed at screening the coding regions of these genes in a series of 177 unrelated probands that fulfilled the diagnostic criteria for primary brain calcification regardless of their family history. Sequence variants were classified as pathogenic, likely pathogenic, or of uncertain significance (VUS), based on the ACMG-AMP recommendations. We identified 45 probands (25.4%) carrying either pathogenic or likely pathogenic variants (n = 34, 19.2%) or VUS (n = 11, 6.2%). SLC20A2 provided the highest contribution (16.9%), followed by XPR1 and PDGFB (3.4% each), and PDGFRB (1.7%). A total of 81.5% of carriers were symptomatic and the most recurrent symptoms were parkinsonism, cognitive impairment, and psychiatric disturbances (52.3%, 40.9%, and 38.6% of symptomatic individuals, respectively), with a wide range of age at onset (from childhood to 81 years). While the pathogenic and likely pathogenic variants identified in this study can be used for genetic counseling, the VUS will require additional evidence, such as recurrence in unrelated patients, in order to be classified as pathogenic.

Published
2018

22. Safety and efficacy of subcutaneous night-time only apomorphine infusion to treat insomnia in patients with Parkinson's disease (APOMORPHEE): a multicentre, randomised, controlled, double-blind crossover study

Author

De Cock, Valérie Cochen, Dodet, Pauline, Leu-Semenescu, Smaranda, Aerts, Cécile, Castelnovo, Giovanni, Abril, Beatriz, Drapier, Sophie, Olivet, Hélène, Corbillé, Anne-Gaëlle, Leclair-Visonneau, Laurène, Sallansonnet-Froment, Magali, Lebouteux, Marie, Anheim, Mathieu, Ruppert, Elisabeth, Vitello, Nicolas, Eusebio, Alexandre, Lambert, Isabelle, Marques, Ana, Fantini, Maria Livia, Devos, David, Monaca, Christelle, Benard-Serre, Nicolas, Lacombe, Sandy, Vidailhet, Marie, Arnulf, Isabelle, Doulazmi, Mohamed, and Roze, Emmanuel

Published
2022
Full Text
View/download PDF

26. 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
Full Text
View/download PDF

29. 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
Full Text
View/download PDF

30. Contribution of MRI for the Early Diagnosis of Parkinsonism in Patients with Diagnostic Uncertainty

Author

Chougar, Lydia, primary, Faucher, Alice, additional, Faouzi, Johann, additional, Lejeune, François‐Xavier, additional, Gama Lobo, Gonçalo, additional, Jovanovic, Carna, additional, Cormier, Florence, additional, Dupont, Gwendoline, additional, Vidailhet, Marie, additional, Corvol, Jean‐Christophe, additional, Colliot, Olivier, additional, Lehéricy, Stéphane, additional, Grabli, David, additional, and Degos, Bertrand, additional

Published
2024
Full Text
View/download PDF

31. Lessons from multitarget neurostimulation in isolated dystonia: Less is more?

Author

Cuartero, Marie-Charlotte, primary, Grabli, David, additional, Flamand-Roze, Emmanuel, additional, Karachi, Carine, additional, Rouaud, Tiphaine, additional, Derkinderen, Pascal, additional, Damier, Philippe, additional, Raoul, Sylvie, additional, Krack, Paul, additional, Moro, Elena, additional, Fraix, Valérie, additional, Chabardès, Stéphan, additional, Burbaud, Pierre, additional, Guehl, Dominique, additional, Cuny, Emmanuel, additional, Pinto, Serge, additional, and Vidailhet, Marie, additional

Published
2024
Full Text
View/download PDF

33. Clinical and demographic characteristics related to onset site and spread of cervical dystonia.

Author

Norris, Scott A, Jinnah, HA, Espay, Alberto J, Klein, Christine, Brüggemann, Norbert, Barbano, Richard L, Malaty, Irene Andonia C, Rodriguez, Ramon L, Vidailhet, Marie, Roze, Emmanuel, Reich, Stephen G, Berman, Brian D, LeDoux, Mark S, Richardson, Sarah Pirio, Agarwal, Pinky, Mari, Zoltan, Ondo, William G, Shih, Ludy C, Fox, Susan H, Berardelli, Alfredo, Testa, Claudia M, Cheng, Florence Ching-Fen, Truong, Daniel, Nahab, Fatta B, Xie, Tao, Hallett, Mark, Rosen, Ami R, Wright, Laura J, and Perlmutter, Joel S

Subjects
Humans, Torticollis, Databases, Factual, Adult, Aged, Middle Aged, Female, Male, focal, geste antagoniste, neck, segmental, spasmodic torticollis, Databases, Factual, Neurology & Neurosurgery, Clinical Sciences, Human Movement and Sports Sciences, Cognitive Sciences, Neurosciences
Abstract

BackgroundClinical characteristics of isolated idiopathic cervical dystonia such as onset site and spread to and from additional body regions have been addressed in single-site studies with limited data and incomplete or variable dissociation of focal and segmental subtypes. The objectives of this study were to characterize the clinical characteristics and demographics of isolated idiopathic cervical dystonia in the largest standardized multicenter cohort.MethodsThe Dystonia Coalition, through a consortium of 37 recruiting sites in North America, Europe, and Australia, recruited 1477 participants with focal (60.7%) or segmental (39.3%) cervical dystonia on examination. Clinical and demographic characteristics were evaluated in terms of the body region of dystonia onset and spread.ResultsSite of dystonia onset was: (1) focal neck only (78.5%), (2) focal onset elsewhere with later segmental spread to neck (13.3%), and (3) segmental onset with initial neck involvement (8.2%). Frequency of spread from focal cervical to segmental dystonia (22.8%) was consistent with prior reports, but frequency of segmental onset with initial neck involvement was substantially higher than the 3% previously reported. Cervical dystonia with focal neck onset, more than other subtypes, was associated with spread and tremor of any type. Sensory tricks were less frequent in cervical dystonia with segmental components, and segmental cervical onset occurred at an older age.ConclusionsSubgroups had modest but significant differences in the clinical characteristics that may represent different clinical entities or pathophysiologic subtypes. These findings are critical for design and implementation of studies to describe, treat, or modify disease progression in idiopathic isolated cervical dystonia. © 2016 International Parkinson and Movement Disorder Society.

Published
2016

36. 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
Full Text
View/download PDF

37. A framework for quantifying the coupling between brain connectivity and heartbeat dynamics: Insights into the disrupted network physiology in Parkinson's disease.

Author

Candia‐Rivera, Diego, Vidailhet, Marie, Chavez, Mario, and De Vico Fallani, Fabrizio

Subjects
*PARKINSON'S disease, *COUPLINGS (Gearing), *DYSAUTONOMIA, *DOPAMINE agents, *PHYSIOLOGY, *MOVEMENT disorders
Abstract

Parkinson's disease (PD) often shows disrupted brain connectivity and autonomic dysfunctions, progressing alongside with motor and cognitive decline. Recently, PD has been linked to a reduced sensitivity to cardiac inputs, that is, cardiac interoception. Altogether, those signs suggest that PD causes an altered brain–heart connection whose mechanisms remain unclear. Our study aimed to explore the large‐scale network disruptions and the neurophysiology of disrupted interoceptive mechanisms in PD. We focused on examining the alterations in brain–heart coupling in PD and their potential connection to motor symptoms. We developed a proof‐of‐concept method to quantify relationships between the co‐fluctuations of brain connectivity and cardiac sympathetic and parasympathetic activities. We quantified the brain–heart couplings from electroencephalogram and electrocardiogram recordings from PD patients on and off dopaminergic medication, as well as in healthy individuals at rest. Our results show that the couplings of fluctuating alpha and gamma connectivity with cardiac sympathetic dynamics are reduced in PD patients, as compared to healthy individuals. Furthermore, we show that PD patients under dopamine medication recover part of the brain–heart coupling, in proportion with the reduced motor symptoms. Our proposal offers a promising approach to unveil the physiopathology of PD and promoting the development of new evaluation methods for the early stages of the disease. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

39. The wisdom of our mentors: clinical pearls in movement disorders

Author

Araújo, Rui, primary, Fearon, Conor, additional, Balint, Bettina, additional, Bressman, Susan, additional, Friedman, Jennifer, additional, Jinnah, H A, additional, Tijssen, Marina A J, additional, Lang, Anthony, additional, Lees, Andrew, additional, Lynch, Tim, additional, Quinn, Niall, additional, Thomson, Philip, additional, Vidailhet, Marie, additional, van de Warrenburg, Bart P, additional, Fung, Victor S C, additional, and Bloem, Bastiaan R, additional

Published
2023
Full Text
View/download PDF

41. Non-motor symptoms in dystonia: from diagnosis to treatment

Author

Peall, Kathryn J., primary, Berman, Brian D., additional, Bruggemann, Norbert, additional, Defazio, Giovanni, additional, Gimeno, Hortensia, additional, Jinnah, H. A., additional, Perlmutter, Joel S., additional, Richardson, Sarah E. Pirio, additional, Roze, Emmanuel, additional, Schrag, Anette, additional, Tinazzi, Michele, additional, Vidailhet, Marie, additional, Wagle Shukla, Aparna, additional, Worbe, Yulia, additional, Teller, Jan K., additional, and Martino, Davide, additional

Published
2023
Full Text
View/download PDF

42. Long-term effect of apomorphine infusion in advanced Parkinson’s disease: a real-life study

Author

Meira, Bruna, Degos, Bertrand, Corsetti, Elise, Doulazmi, Mohamed, Berthelot, Emeline, Virbel-Fleischman, Clara, Dodet, Pauline, Méneret, Aurélie, Mariani, Louise-Laure, Delorme, Cécile, Cormier-Dequaire, Florence, Bendetowicz, David, Villain, Nicolas, Tarrano, Clément, Mantisi, Lise, Letrillart, Hélène, Louapre, Céline, McGovern, Eavan, Worbe, Yulia, Grabli, David, Vidailhet, Marie, Hainque, Elodie, and Roze, Emmanuel

Published
2021
Full Text
View/download PDF

46. 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

47. 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
Full Text
View/download PDF

49. Hypersomnia in anti‐glutamic acid decarboxylase 65 (GAD65) associated neurological syndromes: A pilot study.

Author

Jeantin, Lina, Gales, Ana, Berzero, Giulia, Leu, Smaranda, Proust, Jérémy, Giry, Marine, Valyraki, Nefeli Eirini, Birzu, Cristina, Alentorn, Agusti, Vidailhet, Marie, Psimaras, Dimitri, and Arnulf, Isabelle

Subjects
HYPERSOMNIA, SLEEP duration, SLEEP latency, STIFF-person syndrome, SLEEP disorders, SYNDROMES
Abstract

Background and purpose: Despite their detrimental impact on the quality of life in autoimmune encephalitis, sleep disorders have not been investigated in anti‐glutamic acid decarboxylase (GAD65) associated neurological syndromes. Methods: Six consecutive adult patients diagnosed with anti‐GAD65‐associated neurological syndromes (four with limbic encephalitis and two with stiff‐person syndrome) and 12 healthy controls were enrolled. Participants underwent sleep interviews and sleep studies including night‐time video‐polysomnography, followed by five daytime multiple sleep latency tests (MSLTs, to assess propensity to fall asleep) and an 18 h bed rest polysomnography (to assess excessive sleep need). Results: Patients reported the need for daily naps and that their cognition and quality of life were altered by sleepiness, but they had normal scores on the Epworth sleepiness scale. Compared with controls, sleep latencies during the MSLT were shorter in the patient group (median 5.8 min, interquartile range [IQR] 4.5, 6.0 vs. 17.7 min, IQR 16.3, 19.7, p = 0.001), and the arousal index was reduced (2.5/h, IQR 2.3, 3.0 vs. 22.3/h, IQR 13.8, 30.0, p = 0.002), although total sleep time was similar between groups (621 min, IQR 464, 651 vs. 542.5 min, IQR 499, 582, p = 0.51). Remarkably, all six patients had MSLT latencies ≤8 min, indicating severe sleepiness. No parasomnia or sleep‐disordered breathing was detected. Conclusion: Central hypersomnia is a relevant characteristic of anti‐GAD65‐associated neurological syndromes. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

50. 'Le regard des autres': the experience of walking in social environments as a person with Parkinson's disease.

Author

Parry, Ross, Buttelli, Olivier, Sellam, Narjis, Riff, Jacques, Vidailhet, Marie, Welter, Marie-Laure, and Lalo, Elodie

Subjects
HOME environment, NEUROLOGICAL disorders, SOCIAL norms, GAIT in humans, ACTIVITIES of daily living, INTERVIEWING, ECOLOGICAL research, PATIENTS' attitudes, SOCIAL context, PHENOMENOLOGY, GAIT disorders, QUALITATIVE research, SELF-disclosure, AVOIDANCE (Psychology), SOCIAL isolation, PARKINSON'S disease, WALKING, PHYSICAL mobility, INTERPERSONAL relations, POSTURE, RESEARCH funding, STATISTICAL sampling, THEMATIC analysis
Abstract

To examine the experience of people with Parkinson's disease when walking in different social situations, and improve understanding of how this affects participation in meaningful activity. A convenience sample of fourteen people with Parkinson's disease and a history of gait dysfunction was recruited. In-depth interviews and direct observations were conducted in the participants' home environments. Specific examples from community mobility were reviewed using first person interviewing techniques with the support of video footage. Interview transcripts were analyzed using an interpretive phenomenological approach to derive key themes. The feeling of 'being looked at' (le regard des autres) was the central theme in participant discourse. This sentiment was inextricably linked to the given norms of the social setting, and the relationships between participants and others within that environment. Participants sought to manage how they were perceived by others through modification of posture/gait patterns; disclosure of their neurological disease; and avoidance/withdrawal from social situations. Further to the functional aspects of mobility, gait is important for maintaining self-image in people with Parkinson's disease. Affective gaze interactions have significant consequences upon participation restriction. These findings underscore the interest of activities which strengthen self-image and validate movement diversity in PD rehabilitation. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results