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

Author

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

Subjects
Medicine, Science
Abstract

Abstract Few studies have considered the influence of motor sign asymmetry on motivated behaviors in de novo drug-naïve Parkinson’s disease (PD). We tested whether motor sign asymmetry could be associated with different motivated behavior patterns in de novo drug-naïve PD. We performed a cross-sectional study in 128 de novo drug-naïve PD patients and used the Ardouin Scale of Behavior in Parkinson’s disease (ASBPD) to assess a set of motivated behaviors. We assessed motor asymmetry based on (i) side of motor onset and (ii) MDS-UPDRS motor score, then we compared right hemibody Parkinson’s disease to left hemibody Parkinson’s disease. According to the MDS-UPDRS motor score, patients with de novo right hemibody PD had significantly lower frequency of approach behaviors (p = 0.031), including nocturnal hyperactivity (p = 0.040), eating behavior (p = 0.040), creativity (p = 0.040), and excess of motivation (p = 0.017) than patients with de novo left hemibody PD. Patients with de novo left hemibody PD did not significantly differ from those with de novo right hemibody PD regarding avoidance behaviors including apathy, anxiety and depression. Our findings suggest that motor sign asymmetry may be associated with an imbalance between motivated behaviors in de novo drug-naïve Parkinson’s disease.

Published
2023
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6. Optimizing the risk stratification of astrocytic tumors by applying the cIMPACT-NOW Update 3 signature: real-word single center experience

Author

Carmen Molica, Alessio Gili, Carlotta Nardelli, Tiziana Pierini, Silvia Arniani, Donatella Beacci, Elena Mavridou, Martina Mandarano, Rodolfo Corinaldesi, Giulio Metro, Paolo Gorello, Paolo Giovenali, Nunzia Cenci, Corrado Castrioto, Marco Lupattelli, Fausto Roila, Cristina Mecucci, and Roberta La Starza

Subjects
Medicine, Science
Abstract

Abstract Our work reports implementation of a useful genetic diagnosis for the clinical managment of patients with astrocytic tumors. We investigated 313 prospectively recruited diffuse astrocytic tumours by applying the cIMPACT-NOW Update 3 signature. The cIMPACT-NOW Update 3 (cIMPACT-NOW 3) markers, i.e., alterations of TERT promoter, EGFR, and/or chromosome 7 and 10, characterized 96.4% of IDH wt cases. Interestingly, it was also found in 48,5% of IDH mut cases. According to the genomic profile, four genetic subgroups could be distinguished: (1) ID wt/cIMPACT-NOW 3 (n = 270); (2) IDH wt/cIMPACT-NOW 3 negative (= 10); (3) IDH mut/cIMPACT-NOW 3 (n = 16); and 4) IDH mut/cIMPACT-NOW 3 negative (n = 17). Multivariate analysis confirmed that IDH1/2 mutations confer a favorable prognosis (IDH wt, HR 2.91 95% CI 1.39–6.06), and validated the prognostic value of the cIMPACT-NOW 3 signature (cIMPACT-NOW 3, HR 2.15 95% CI 1.15–4.03). To accurately identify relevant prognostic categories, overcoming the limitations of histopathology and immunohistochemistry, molecular-cytogenetic analyses must be fully integrated into the diagnostic work-up of astrocytic tumors.

Published
2023
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8. Non-technical skills for neurosurgeons: An international survey

Author

Olldashi, F., Al Anazi, A., Kanaan, I., Garcia Colmena, F., Ajler, P., Socolovsky, M., Knosp, E., Raftopoulos, C., Rodrigues, J.C., Jr., Enchev, Y.P., Xu, B., Chul-Kee, P., Rotim, K., Posti, J., Meyer, B., Shimamoto, H., Makhambetov, Y., Frosen, J., Chandra, S.P., Cappabianca, P., Piatelli, G., Genitori, L., Germanò, A., Sabatino, G., Bernucci, C., Giussani, C., Olivi, A., Locatelli, D., Stefini, R., Castrioto, C., Mangiola, A., Fontanella, M.M., Tacconi, L., Conti, C., Skrap, M., El Abbadi, N., Sharma, M.R., Shamim, M.S., Sharif, S., Farias, J.P., Florian, I.S., Gushcha, A.O., Rasulic, L., Vulekovic, P., Ang, B.T., Lagares, A., Diez Valle, R., Ensenat, J., Ley Urzaiz, L., Barcia Albacar, J.A., Kupanur, S.S., Regli, L., Dunn, I.F., Adelson, D., Bederson, J., Levi, A.D., Alturky, A.Y., Matula, C., Cortes, B., Xiang, W., Li, T., El-Ghandour, N.M.F., Kanai, R., Patir, R., Misra, B.K., Dwarakanath, S., Servadei, F., Tomasello, F., Casali, C., Unsgard, G., Morcos, J.J., Souhil, T., Khoja, I., Kehayov, I., Vukic, M., Ziebell, M., Gulisano, H.A., Tange, M., Kurozumi, K., Locatelli, M., Garbossa, D., Gomez Amador, J.L., Rodriguez, A.O., Ashkan, K., Lim, M., Maleki, M., Agrawal, A., Naik, A., Sciubba, D.M., Kim, L.J., Spinner, R.J., McDonald, P., Pavesi, G., Cavallo, S.M., Pellencin, E., Carone, G., Castelli, N., Ayadi, R., Moiyadi, A., Padayachy, L., Meling, T.R., Di Meco, F., and Perin, A.

Published
2024
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9. 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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10. Hoehn and Yahr Stage and Striatal Dat-SPECT Uptake Are Predictors of Parkinson’s Disease Motor Progression

Author

Jackson, Holly, Anzures-Cabrera, Judith, Taylor, Kirsten I, Pagano, Gennaro, Investigators, PASADENA, Group, Prasinezumab Study, Altendorf, Claudia, Anandan, Chareyna, Andrews, Giulia, Ansquer, Solène, Arrouasse, Raphaele, Aslam, Sana, Azulay, Jean-Philippe, Baker, Jeanette, Martinez, Ernest Balaguer, Barbu, Shadi, Bardram, Kara, Bega, Danny, Marco, Helena Bejr-Kasem, Benatru, Isabelle, Benchetrit, Eve, Bernhard, Felix, Besharat, Amir, Bette, Sagari, Bichon, Amelie, Billnitzer, Andrew, Blondeau, Sophie, Boraud, Thomas, Borngräber, Freiderike, Boyd, James, Brockmann, Kathrin, Brodsky, Matthew, Brown, Ethan, Bruecke, Christof, Calvas, Fabienne, Canelo, Monica, Carbone, Federico, Carroll, Claire, Fernandez, Laura Casado, Cassé-Perrot, Catherine, Castrioto, Anna, Catala, Helene, Chan, Justine, Cheriet, Samia, Ciabarra, Anthony, Classen, Joseph, Coleman, Juliana, Coleman, Robert, Compta, Yaroslau, Corbillé, Anne-Gaëlle, Corvol, Jean-Christophe, Cosgaya, Mariana, Dahodwala, Nabila, Damier, Philippe, David, Elodie, Davis, Thomas, Dean, Marissa, Debilly, Berengere, DeGiorgio, Janell, Deik, Andres, Delaby, Laure, Delfini, Marie-Helene, Derkinderen, Pascal, Derost, Philipp, de Toledo, Maria, Deuel, Lisa, Diaz-Hernandez, Ann Marie, Dietiker, Cameron, Dimenshteyn, Karina, Dotor, Julio, Durif, Franck, Ebentheuer, Jens, Eggert, Karla Maria, Madueño, Sara Eichau, Eickhoff, Claudia, Ellenbogen, Aaron, Ellmerer, Philipp, Vazquez, Ines Esparragosa, Eusebio, Alexandre, Ewert, Siobhan, Fang, John, Feigenbaum, Danielle, Fluchere, Frederique, Foubert-Samier, Alexandra, Fournier, Marie, Fradet, Anne, Fraix, Valerie, Frank, Samuel, Fries, Franca, Galitzky, Monique, Pérez, Marisol Gallardó, Moreno, Jose Manuel García, Gasca, Carmen, Gasser, Thomas, Gibbons, Joyce, Giordana, Caroline, Martinez, Alicia Gonzalez, Goodman, Ira, Gorospe, Arantza, and Goubeaud, Marie

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Psychology, Biomedical Imaging, Parkinson's Disease, Brain Disorders, Clinical Research, Aging, Neurosciences, Neurodegenerative, Clinical Trials and Supportive Activities, Neurological, PASADENA Investigators, Prasinezumab Study Group, Dat-SPECT imaging, MDS-UPDRS, PASADENA, PPMI, Parkinson’s disease, disease stage, progression predictors, ridge regression, Cognitive Sciences, Biological psychology
Abstract

Currently, no treatments available for Parkinson's disease (PD) can slow PD progression. At the early stage of the disease, only a subset of individuals with PD progress quickly, while the majority have a slowly progressive form of the disease. In developing treatments that aim to slow PD progression, clinical trials aim to include individuals who are likely to progress faster, such that a treatment effect, if one exists, can be identified easier and earlier. The aim of the present study was to identify baseline predictors of clinical progression in early PD. We analyzed 12-month data acquired from the PASADENA trial Part 1 (NCT03100149, n = 76 participants who were allocated to the placebo arm and did not start symptomatic therapy) and the Parkinson's Progression Markers Initiative (PPMI) study (n = 139 demographically and clinically matched participants). By using ridge regression models including clinical characteristics, imaging, and non-imaging biomarkers, we found that Hoehn and Yahr stage and dopamine transporter single-photon emission computed tomography specific binding ratios (Dat-SPECT SBR) in putamen ipsilateral to the side of motor symptom onset predicted PD progression at the early stage of the disease. Further studies are needed to confirm the validity of these predictors to identify with high accuracy individuals with early PD with a faster progression phenotype.

Published
2021

11. A Phase II Study to Evaluate the Safety and Efficacy of Prasinezumab in Early Parkinson's Disease (PASADENA): Rationale, Design, and Baseline Data

Author

Pagano, Gennaro, Boess, Frank G, Taylor, Kirsten I, Ricci, Benedicte, Mollenhauer, Brit, Poewe, Werner, Boulay, Anne, Anzures-Cabrera, Judith, Vogt, Annamarie, Marchesi, Maddalena, Post, Anke, Nikolcheva, Tania, Kinney, Gene G, Zago, Wagner M, Ness, Daniel K, Svoboda, Hanno, Britschgi, Markus, Ostrowitzki, Susanne, Simuni, Tanya, Marek, Kenneth, Koller, Martin, Sevigny, Jeff, Doody, Rachelle, Fontoura, Paulo, Umbricht, Daniel, Bonni, Azad, Investigators, PASADENA, Group, Prasinezumab Study, Altendorf, Claudia, Anandan, Chareyna, Andrews, Giulia, Ansquer, Solène, Arrouasse, Raphaele, Aslam, Sana, Azulay, Jean-Philippe, Baker, Jeanette, Martinez, Ernest Balaguer, Barbu, Shadi, Bardram, Kara, Bega, Danny, Marco, Helena Bejr-Kasem, Benatru, Isabelle, Benchetrit, Eve, Bernhard, Felix, Besharat, Amir, Bette, Sagari, Bichon, Amelie, Billnitzer, Andrew, Blondeau, Sophie, Boraud, Thomas, Borngräber, Freiderike, Boyd, James, Brockmann, Kathrin, Brodsky, Matthew, Brown, Ethan, Bruecke, Christof, Calvas, Fabienne, Canelo, Monica, Carbone, Federico, Carroll, Claire, Fernandez, Laura Casado, Cassé-Perrot, Catherine, Castrioto, Anna, Catala, Helene, Chan, Justine, Cheriet, Samia, Ciabarra, Anthony, Classen, Joseph, Coleman, Juliana, Coleman, Robert, Compta, Yaroslau, Corbillé, Anne-Gaëlle, Corvol, Jean-Christophe, Cosgaya, Mariana, Dahodwala, Nabila, Damier, Philippe, David, Elodie, Davis, Thomas, Dean, Marissa, Debilly, Berengere, DeGiorgio, Janell, Deik, Andres, Delaby, Laure, Delfini, Marie-Helene, Derkinderen, Pascal, Derost, Philipp, de Toledo, Maria, Deuel, Lisa, Diaz-Hernandez, Ann Marie, Dietiker, Cameron, Dimenshteyn, Karina, Dotor, Julio, Durif, Franck, Ebentheuer, Jens, Eggert, Karla Maria, Madueño, Sara Eichau, Eickhoff, Claudia, Ellenbogen, Aaron, Ellmerer, Philipp, and Vazquez, Ines Esparragosa

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Neurodegenerative, Parkinson's Disease, Clinical Research, Neurosciences, Aging, Clinical Trials and Supportive Activities, Brain Disorders, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Neurological, PASADENA Investigators, Prasinezumab Study Group, MDS-UPDRS = Movement Disorder Society—Unified Parkinson's Disease Rating Scale, Parkinson's disease, Phase II clinical trial, alpha-synuclein, disease modification treatments, disease progression, monoclonal antibodies, prasinezumab, Psychology, Clinical sciences, Biological psychology
Abstract

Background: Currently available treatments for Parkinson's disease (PD) do not slow clinical progression nor target alpha-synuclein, a key protein associated with the disease. Objective: The study objective was to evaluate the efficacy and safety of prasinezumab, a humanized monoclonal antibody that binds aggregated alpha-synuclein, in individuals with early PD. Methods: The PASADENA study is a multicenter, randomized, double-blind, placebo-controlled treatment study. Individuals with early PD, recruited across the US and Europe, received monthly intravenous doses of prasinezumab (1,500 or 4,500 mg) or placebo for a 52-week period (Part 1), followed by a 52-week extension (Part 2) in which all participants received active treatment. Key inclusion criteria were: aged 40-80 years; Hoehn & Yahr (H&Y) Stage I or II; time from diagnosis ≤2 years; having bradykinesia plus one other cardinal sign of PD (e.g., resting tremor, rigidity); DAT-SPECT imaging consistent with PD; and either treatment naïve or on a stable monoamine oxidase B (MAO-B) inhibitor dose. Study design assumptions for sample size and study duration were built using a patient cohort from the Parkinson's Progression Marker Initiative (PPMI). In this report, baseline characteristics are compared between the treatment-naïve and MAO-B inhibitor-treated PASADENA cohorts and between the PASADENA and PPMI populations. Results: Of the 443 patients screened, 316 were enrolled into the PASADENA study between June 2017 and November 2018, with an average age of 59.9 years and 67.4% being male. Mean time from diagnosis at baseline was 10.11 months, with 75.3% in H&Y Stage II. Baseline motor and non-motor symptoms (assessed using Movement Disorder Society-Unified Parkinson's Disease Rating Scale [MDS-UPDRS]) were similar in severity between the MAO-B inhibitor-treated and treatment-naïve PASADENA cohorts (MDS-UPDRS sum of Parts I + II + III [standard deviation (SD)]; 30.21 [11.96], 32.10 [13.20], respectively). The overall PASADENA population (63.6% treatment naïve and 36.4% on MAO-B inhibitor) showed a similar severity in MDS-UPDRS scores (e.g., MDS-UPDRS sum of Parts I + II + III [SD]; 31.41 [12.78], 32.63 [13.04], respectively) to the PPMI cohort (all treatment naïve). Conclusions: The PASADENA study population is suitable to investigate the potential of prasinezumab to slow disease progression in individuals with early PD. Trial Registration: NCT03100149.

Published
2021

12. Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

Author

Barbier, Mathieu, Davoine, Claire-Sophie, Petit, Emilien, Porché, Maximilien, Guillot-Noel, Léna, Sayah, Sabrina, Fauret, Anne-Laure, Neau, Jean-Philippe, Guyant-Maréchal, Lucie, Deffond, Didier, Tranchant, Christine, Goizet, Cyril, Coarelli, Giulia, Castrioto, Anna, Klebe, Stephan, Ewenczyk, Claire, Heinzmann, Anna, Charles, Perrine, Tchikviladzé, Maya, Van Broeckhoven, Christine, Brice, Alexis, and Durr, Alexandra

Published
2023
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13. Axial impairment and falls in Parkinson’s disease: 15 years of subthalamic deep brain stimulation

Author

Alessandro Zampogna, Francesco Cavallieri, Francesco Bove, Antonio Suppa, Anna Castrioto, Sara Meoni, Pierre Pélissier, Emmanuelle Schmitt, Amélie Bichon, Eugénie Lhommée, Andrea Kistner, Stephan Chabardès, Eric Seigneuret, Valerie Fraix, and Elena Moro

Subjects
Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract In this retrospective study, we longitudinally analyzed axial impairment and falls in people with Parkinson’s disease (PD) and subthalamic nucleus deep brain stimulation (STN-DBS). Axial scores and falling frequency were examined at baseline, and 1, 10, and 15 years after surgery. Preoperative demographic and clinical data, including PD duration and severity, phenotype, motor and cognitive scales, medications, and vascular changes on neuroimaging were examined as possible risk factors through Kaplan–Meier and Cox regression analyses. Of 302 individuals examined before and at 1 year after surgery, 102 and 57 were available also at 10 and 15 years of follow-up, respectively. Axial scores were similar at baseline and at 1 year but worsened at 10 and 15 years. The prevalence rate of frequent fallers progressively increased from baseline to 15 years. Preoperative axial scores, frontal dysfunction and age at PD onset were risk factors for axial impairment progression after surgery. Axial scores, akinetic/rigid phenotype, age at disease onset and disease duration at surgery predicted frequent falls. Overall, axial signs progressively worsened over the long-term period following STN-DBS, likely related to the progression of PD, especially in a subgroup of subjects with specific risk factors.

Published
2022
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14. Fluctuations in Parkinson’s disease and personalized medicine: bridging the gap with the neuropsychiatric fluctuation scale

Author

Emmanuelle Schmitt, Bettina Debu, Anna Castrioto, Andrea Kistner, Valerie Fraix, Martine Bouvard, and Elena Moro

Subjects
psychometric characteristics, scale, validation, Parkinson‘s disease, neuropsychiatric fluctuations, Neurology. Diseases of the nervous system, RC346-429
Abstract

BackgroundNeuropsychiatric fluctuations (NpsyF) are frequent and disabling in people with Parkinson’s disease (PD). In OFF-medication, NpsyF entail minus neuropsychiatric symptoms (NPS) like anxiety, apathy, sadness, and fatigue. In ON-medication, NpsyF consist in plus NPS, such as high mood, hypomania, and hyperactivity. Accurate identification of these NpsyF is essential to optimize the overall PD management. Due to lack of punctual scales, the neuropsychiatric fluctuation scale (NFS) has been recently designed to assess NpsyF in real time. The NFS comprises 20 items with two subscores for plus and minus NPS, and a total score.ObjectiveTo evaluate the psychometric properties of the NFS in PD.MethodsPD patients with motor fluctuations and healthy controls (HC) were assessed. In PD patients, the NFS was administrated in both the ON-and OFF-medication conditions, together with the movement disorders society-unified Parkinson disease rating scale parts I–IV. Depression (Beck depression scale II), apathy (Starkstein apathy scale) and non-motor fluctuations items of the Ardouin scale of behaviour in PD (ASBPD OFF and ON items) were also assessed. NFS internal structure was evaluated with principal component analysis consistency (PCA) in both medication conditions in PD patients and before emotional induction in HC. NFS internal consistency was assessed using Cronbach’s alpha coefficient. NFS convergent and divergent validity was measured through correlations with BDI-II, Starktein, and ASBPD OFF and ON non motor items. Specificity was assessed comparing NFS global score between the HC and PD populations. Sensitivity was evaluated with t-student test comparing the ON-and the OFF-medication conditions for NFS global score and for minus and plus subscores.ResultsIn total, 101 consecutive PD patients and 181 HC were included. In PD patients and HC, PCA highlighted one component that explained 32–35 and 42% of the variance, respectively. Internal consistency was good for both the NFS-plus (alpha =0.88) and NFS-minus items (alpha =0.8). The NFS showed a good specifity for PD (p < 0.0001) and a good sensitivity to the medication condition (p < 0.0001).ConclusionThe satisfactory properties of the NFS support its use to assess acute neuropsychiatric fluctuations in PD patients, adding to available tools.

Published
2023
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16. High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Author

Benkirane, Mehdi, Marelli, Cecilia, Guissart, Claire, Roubertie, Agathe, Ollagnon, Elizabeth, Choumert, Ariane, Fluchère, Frédérique, Magne, Fabienne Ory, Halleb, Yosra, Renaud, Mathilde, Larrieu, Lise, Baux, David, Patat, Olivier, Bousquet, Idriss, Ravel, Jean-Marie, Cuntz-Shadfar, Danielle, Sarret, Catherine, Ayrignac, Xavier, Rolland, Anne, Morales, Raoul, Pointaux, Morgane, Lieutard-Haag, Cathy, Laurens, Brice, Tillikete, Caroline, Bernard, Emilien, Mallaret, Martial, Carra-Dallière, Clarisse, Tranchant, Christine, Meyer, Pierre, Damaj, Lena, Pasquier, Laurent, Acquaviva, Cecile, Chaussenot, Annabelle, Isidor, Bertrand, Nguyen, Karine, Camu, William, Eusebio, Alexandre, Carrière, Nicolas, Riquet, Audrey, Thouvenot, Eric, Gonzales, Victoria, Carme, Emilie, Attarian, Shahram, Odent, Sylvie, Castrioto, Anna, Ewenczyk, Claire, Charles, Perrine, Kremer, Laurent, Sissaoui, Samira, Bahi-buisson, Nadia, Kaphan, Elsa, Degardin, Adrian, Doray, Bérénice, Julia, Sophie, Remerand, Ganaëlle, Fraix, Valerie, Haidar, Lydia Abou, Lazaro, Leila, Laugel, Vincent, Villega, Frederic, Charlin, Cyril, Frismand, Solène, Moreira, Marinha Costa, Witjas, Tatiana, Francannet, Christine, Walther-Louvier, Ulrike, Fradin, Mélanie, Chabrol, Brigitte, Fluss, Joel, Bieth, Eric, Castelnovo, Giovanni, Vergnet, Sylvain, Meunier, Isabelle, Verloes, Alain, Brischoux-Boucher, Elise, Coubes, Christine, Geneviève, David, Lebouc, Nicolas, Azulay, Jean Phillipe, Anheim, Mathieu, Goizet, Cyril, Rivier, François, Labauge, Pierre, Calvas, Patrick, and Koenig, Michel

Published
2021
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17. De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Author

Benkirane, Mehdi, Bonhomme, Marion, Morsy, Heba, Safgren, Stephanie L, Marelli, Cecilia, Chaussenot, Annabelle, Smedley, Damian, Cipriani, Valentina, Sainte-Agathe, Jean-Madeleine de, Ding, Can, Larrieu, Lise, Vestito, Letizia, Margot, Henri, Lesca, Gaetan, Ramond, Francis, Castrioto, Anna, Baux, David, Verheijen, Jan, Sansa, Emna, and Giunti, Paola

Subjects
CEREBELLAR ataxia, FRIEDREICH'S ataxia, AMYOTROPHIC lateral sclerosis, FRONTOTEMPORAL dementia, MISSENSE mutation
Abstract

Alpha-tubulin 4A encoding gene (TUBA4A) has been associated with familial amyotrophic lateral sclerosis and frontotemporal dementia, based on identification of likely pathogenic variants in patients from distinct amyotrophic lateral sclerosis and frontotemporal dementia cohorts. By screening a multicentric French cohort of 448 unrelated probands presenting with cerebellar ataxia, we identified ultra-rare TUBA4A missense variants, all being absent from public databases and predicted pathogenic by multiple in silico tools. In addition, gene burden analyses in the 100 000 Genomes project (100KGP) showed enrichment of TUBA4A rare variants in the inherited ataxia group compared to controls [odds ratio: 57.0847 (10.2−576.7); P = 4.02 ×10−7]. Taken together, we report 12 patients presenting with spasticity and/or cerebellar ataxia and harbouring a predicted pathogenic TUBA4A missense mutation, including five confirmed de novo cases and a mutation previously reported in a large family presenting with spastic ataxia. Cultured fibroblasts from three patients harbouring distinct TUBA4A missense showed significant alterations in microtubule organization and dynamics, providing insight of TUBA4A variants pathogenicity. Our data confirm the identification of a hereditary spastic ataxia disease gene with variable age of onset, expanding the clinical spectrum of TUBA4A associated phenotypes. [ABSTRACT FROM AUTHOR]

Published
2024
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18. Does Motor Symptoms Asymmetry Predict Motor Outcome of Subthalamic Deep Brain Stimulation in Parkinson's Disease Patients?

Author

Francesco Bove, Francesco Cavallieri, Anna Castrioto, Sara Meoni, Emmanuelle Schmitt, Amélie Bichon, Eugénie Lhommée, Pierre Pélissier, Andrea Kistner, Eric Chevrier, Eric Seigneuret, Stephan Chabardès, Franco Valzania, Valerie Fraix, and Elena Moro

Subjects
deep brain stimulation, motor asymmetry, motor outcome, Parkinson's disease, predictors, subthalamic nucleus, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

BackgroundIn Parkinson's disease (PD), the side of motor symptoms onset may influence disease progression, with a faster motor symptom progression in patients with left side lateralization. Moreover, worse neuropsychological outcomes after subthalamic nucleus deep brain stimulation (STN-DBS) have been described in patients with predominantly left-sided motor symptoms. The objective of this study was to evaluate if the body side of motor symptoms onset may predict motor outcome of bilateral STN-DBS.MethodsThis retrospective study included all consecutive PD patients treated with bilateral STN-DBS at Grenoble University Hospital from 1993 to 2015. Demographic, clinical and neuroimaging data were collected before (baseline condition) and 1 year after surgery (follow-up condition). The predictive factors of motor outcome at one-year follow-up, measured by the percentage change in the MDS-UPDRS-III score, were evaluated through univariate and multivariate linear regression analysis.ResultsA total of 233 patients were included with one-year follow-up after surgery [143 males (61.40%); 121 (51.90 %) right body onset; 112 (48.10%) left body onset; mean age at surgery, 55.31 ± 8.44 years; mean disease duration, 11.61 ± 3.87]. Multivariate linear regression analysis showed that the left side of motor symptoms onset did not predict motor outcome (β = 0.093, 95% CI = −1.967 to 11.497, p = 0.164).ConclusionsIn this retrospective study, the body side of motor symptoms onset did not significantly influence the one-year motor outcome in a large cohort of PD patients treated with bilateral STN-DBS.

Published
2022
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19. 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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20. Global Perspectives on Task Shifting and Task Sharing in Neurosurgery

Author

Rosenfeld, Jeffrey, Balak, Naci, Ammar, Ahmed, Tisel, Magnus, Haglund, Michael, Smith, Timothy, Mendez, Ivar, Brennum, Jannick, Honeybul, Stephen, Matsumara, Akira, Muneza, Severien, Rubiano, Andres, Kamalo, Patrick, Fieggen, Graham, Misra, Basant, Bolles, Gene, Adelson, David, Dempsey, Robert, Hutchinson, Peter, Nikova, Alexandrina, Ghazala, Osama, Buno, Elubabor, Bhattacharjee, Shibashish, Iizuka, Takahiro, Abdullah, Jafri Malin, Chaurasia, Bipin, Morgan, Eghosa, Alcedo-Guardia, Rodolfo E., Lucena, Lynne Lourdes N., Oktay, Kadir, AbdAllah, Omar Ibrahim, Saihi, Ahlem, Abdeldjalil, Gacem, Asmaa, Mahi, Yampolsky, Claudio, Saladino, Laura P., Mannara, Francisco, Sachdev, Sonal, Price, Benjamin, Joris, Vincent, Adeniran Bankole, Nourou Dine, Carrasco, Edgar M., Hodzic, Mirsad, de Sousa Porto, Marcos Wagner, Amorim, Robson, Maldonado, Igor Lima, Yves, Bizoza, Suarez, Gonzalo, Constanzo, Felipe, Valdeblanquez Atencio, Johanna Cecilia, Ruiz Mora, Karen Alexa, Rodriguez Gil, Juan Manuel, Paraskeva, Kiriakos, Egemen, Emrah, Ngamasata, Trevcsor, Ntalaja, Jeff, Beltchika, Antoine, Ntsambi, Glennie, Dunia, Goertz Mirenge, Taha, Mahmoud M., Arnaout, Mohamed, Kirollos, Ramez, Kassem, Mohamed, Elwardany, Omar, Negida, Ahmed, Dolango, Birhanu, Aseged, Mikael, Mldie, Alemu Adise, Laeke, Tsegazeab, Aklilu, Abenezer, Adefris, Esayas, Luoto, Teemu, Behnam, Rezai Jahromi, De Schlichting, Emmanuel, Nassim, Bougaci, Bourdillon, Pierre, Stienen, Martin N., Lackermair, Stephan, Schmidt, Franziska Anna, Konczalla, Juergen, Holzgreve, Adrien, Sagerer, Andre, Weinert, Dieter M., Kumi, Paulette, McLean, Aaron Lawson, Loan, James, Cahill, Julian, Dockrell, Simon, Afshari, Fardad T., May, Paul, Athanasiou, Alkinoos, Papadopoulos, Steven, Espinoza, Edroulfo-Georgios, Chatzisotiriou, Athanasios, Vlachogiannis, Pavlos, Karabatsou, Konstantina, Paschalis, Thanasis, Tsitsipanis, Christos, Longo Calderan, Gabriel Mauricio, Leiva, Ronny, Deora, Harsh, Mukkamala, Sreenivas, Batra, Dipesh, Sukumaran, Arvind, Parmar, Kanishk, Bahl, Anuj, Agrawal, Amit, Dev, Nirankar, Thakur, Nikhil, Behari, Sanjay, Yandrapati, Chandrasekhar B.V.K., Bhoot, Ritesh, Bhatt, Pragnesh, Bhaumik, Uday, Agrawal, Manish, Thomas, Antony, Chandrappa, Harish, Mathur, Ankit, Wahjoepramono, Petra, Oswari, Selfy, Al-Mahfoudh, Rafid, Alnaji, Abbas, Abuhadrous, Nidal, Jarad, Bakr Abo, Nour, Ibrahim, Cohen-Inbar, Or, Colasanti, Roberto, Conti, Alfredo, Raffa, Giovanni, Castrioto, Corrado, Baccanelli, Matteo M., Tomasi, Santino Ottavio, Zoli, Matteo, Veroni, Andrea, Di Cristofori, Andrea, Giannachi, Luigi, Lippa, Laura, Sgubin, Donatella, Broggi, Morgan, Barbato, Marcello, Restelli, Francesco, Ganau, Mario, Taddei, Graziano, Albadawi, Hamzeh, Salameh, Mohammed, Gulmira, Madieyva, Lashhab, Muffaq, El Gaddafi, Walid, Altoumi, Mohammad, Manvinder, S.M., Kanesen, Davendran, Teo, Mario, Sriram, Prabu Rau, Zamri, Sarah Atiqah M., Vinodh, Vayara Perumall, Denou, Moussa, Melhaoui, Adyl, Outani, Oumaima, Boutarbouch, Mahjouba, Gretschel, Armin, Yadav, Pradhumna, Karmacharya, Balgopal, Incekara, Fatih, Boogert, Hugo den, Lopez, Buccket Argvoello, Amadou, Hassane Ali, Sale, Danjuma, Bello, Sanusi, Edward, Poluyi, Ukachukwu, Alvan-Emeka, Nwaribe, Evaristus, Aniaku, Ikechukwu, Ndajiwo, Aliyu Baba, Ayodele, Olabamidele, Bot, Gyang Markus, Ndubuisu Achebe, Sunday David, Jamal, Bakht, Tariq, Muhammad, Farooq, Ghulam, Khan, Tariq, Khan, Danyal Zaman, Khizar, Ahtesham, Hussain, Zahid, Nazir, Anisa, Gonzales-Portillo, Marco, Bautista, Jhosep Silvestre, Torres, Roland A., Javier-Lizan, Abigail, de los Santos, Isagani Jodl G., Jr., Morais, Nuno, Dias, Lydia, Noronha, Carolina, Silva, Jovelo Monteiro, Seromenho-Santos, Alexandra, Lozanche, Kiril, Negoi, Ionut, Tascu, Alexandru, Kozyrev, Danil A., Nkeshimana, Menelas, Karekezi, Claire, Ndayishyigikiye, Marcel Didier, Alabbass, Faisal, Farrash, Faisal, Alhazmi, Rawan, Golubovic, Jagos, Lepifá, Milan, Ilifá, Rosanda, Stanimirovifá, Aleksandar, Garcia-Garcia, Sergio, Rodriguez Arias, Carlos A., Lau, Ruth, Delgado-Fernandez, Juan, Arraez, Miguel A., Mateos, C. Fernandez, Castano Leon, Ana M., Wadanamby, Saman, Bervini, David, Shabani, Hamisi K., Limpastan, Kriengsak, Ayadi, Khalil, Sencer, Altay, Yalcinkaya, Ali, Eren, Elif, Basaran, Recep, Gokoglu, Abdulkerim, Mykola, Vyval, Tayong, Felicita, Rosseau, Gail, Zuccarello, Mario, Quinsey, Carolyn, Dewan, Michael C., Young, Paul H., Laws, Edward, Rock, Jack, Kurland, David B., Muh, Carrie R., Delgado Aguilar, Eri Dario, Burns, Kenneth, Low, Jacob, Keogh, Conor, Uff, Chris, Spina, Alfio, Alelyani, Fayez, Robertson, Faith C., Esene, Ignatius N., Kolias, Angelos G., Gormley, William B., Park, Kee B., and Broekman, Marike L.D.

Published
2020
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21. Disentangling Bradykinesia and Rigidity in Parkinson Disease: Evidence from Short‐ and Long‐Term Subthalamic Nucleus Deep Brain Stimulation

Author

Zampogna, Alessandro, primary, Suppa, Antonio, additional, Bove, Francesco, additional, Cavallieri, Francesco, additional, Castrioto, Anna, additional, Meoni, Sara, additional, Pelissier, Pierre, additional, Schmitt, Emmanuelle, additional, Chabardes, Stephan, additional, Fraix, Valerie, additional, and Moro, Elena, additional

Published
2024
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24. Brainstem haemorrhage as a rare complication of burr hole craniostomy

Author

Rodolfo Corinaldesi, Corrado Filippo Castrioto, Francesca Romana Barbieri, Luciano Mastronardi, and Umberto Ripani

Subjects
bleeding, chronic subdural hematoma, clinical worsening, post-surgical issue, surgical procedure, Medicine
Abstract

Aim Evacuation through burr hole craniostomy is the most common type of chronic subdural hematoma surgical treatment, with a morbidity rate of 0-9%. Methods Here we present a case of 66-year-old Caucasian woman with bilateral hemispheric chronic subdural hematoma and left transtentorial uncal herniation. Bilateral burr hole craniostomy with gradual and simultaneous evacuation was performed and subdural drains were placed with daily strict monitoring of drained fluid. Results Despite immediate prompt neurological improvement, on the second postoperative day bilateral ptosis and left medial rectus weakness occurred, with no signs of consciousness deterioration. Radiological exams revealed a 9 x 6 mm haemorrhage of the tegmentum mesencephali. In the next day progressive neurological improvement occurred and a follow-up at 1 month revealed persistence of bilateral ptosis with almost complete regression of the left medial rectus weakness. Conclusion Although burr hole craniostomy is considered a minor procedure, rare but fatal complications like brainstem haemorrhage may occur. Bilateral simultaneous and gradual drainage, strict monitoring of drained fluid and blood pressure in the perioperative period and frequent neurological with prompt radiological assessment in case of clinical worsening, should be the mainstay of a correct management of chronic subdural hematoma (particularly if bilateral) in order to avoid potentially fatal complications.

Published
2021
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25. A randomized controlled double-blind study of rotigotine on neuropsychiatric symptoms in de novo PD

Author

A. Castrioto, S. Thobois, M. Anheim, J. L. Quesada, E. Lhommée, H. Klinger, A. Bichon, E. Schmitt, F. Durif, J. P. Azulay, J. L. Houeto, N. Longato, C. Philipps, P. Pelissier, E. Broussolle, E. Moro, C. Tranchant, V. Fraix, P. Krack, and for the Honeymoon study group

Subjects
Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Management of apathy, depression and anxiety in Parkinson’s disease (PD) represents a challenge. Dopamine agonists have been suggested to be effective. This multicenter, randomized (1:1), double-blind study assessed the 6-month effect of rotigotine versus placebo on apathy, depression and anxiety in de novo PD. The primary outcome was the change of apathy, measured with the LARS. The secondary outcomes were the change in depression and anxiety, measured with BDI-2 and STAI-trait and state. Forty-eight drug-naive PD patients were included. The primary outcome was not reached, with a surprisingly high placebo effect on apathy (60%). There was no significant difference in the change of depression at 6 months between rotigotine and placebo. Trait-anxiety was significantly improved by rotigotine compared to placebo (p = 0.04). Compared to placebo, low dose rotigotine significantly improved trait anxiety, but not apathy and depression. The major placebo effect on apathy points towards the importance of a multidisciplinary and tight follow-up in the management of neuropsychiatric symptoms.

Published
2020
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26. New somatic TERT promoter variants enhance the Telomerase activity in Glioblastoma

Author

Tiziana Pierini, Carlotta Nardelli, Anair Graciela Lema Fernandez, Valentina Pierini, Fabrizia Pellanera, Valeria Nofrini, Paolo Gorello, Martina Moretti, Silvia Arniani, Giovanni Roti, Paolo Giovenali, Marco Lupattelli, Giulio Metro, Carmen Molica, Corrado Castrioto, Rodolfo Corinaldesi, Maria Elena Laurenti, Stefano Ascani, Cristina Mecucci, and Roberta La Starza

Subjects
TERT, Gliomas, Gain-of-function mutation, ETS and Krüppel transcription factors, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract The catalytic activity of human Telomerase Reverse Transcriptase (TERT) compensates for the loss of telomere length, eroded during each cell cycle, to ensure a correct division of stem and germinal cells. In human tumors, ectopic TERT reactivation, most frequently due to hotspot mutations in the promoter region (TERTp), i.e. c.1-124 C > T, c.1-146 C > T, confers a proliferative advantage to neoplastic cells. In gliomas, TERTp mutations (TERTpmut) mainly occur in oligodendroglioma and glioblastoma. We screened, for TERTp hotspot mutations, 301 adult patients with gliomas and identified heterozygous mutations in 239 cases: 94% of oligodendroglioma, 85% of glioblastoma, and 37.5% of diffuse/anaplastic astrocytoma. Besides the recurrent c.1-124 C > T and c.1-146 C > T, two cases of glioblastoma harbored novel somatic TERTp variants, which consisted of a tandem duplications of 22 nucleotides, i.e. a TERTp c.1-100_1-79dup and TERTp c.1-110_1-89, both located downstream c.1-124 C > T and c.1-146 C > T. In silico analysis predicted the formation of 119 and 108 new transcription factor’s recognition sites for TERTp c.1-100_1-79dup and TERTp c.1-110_1-89, respectively. TERTp duplications (TERTpdup) mainly affected the binding capacity of two transcription factors’ families, i.e. the members of the E-twenty-six and the Specificity Protein/Krüppel-Like Factor groups. In fact, these new TERTpdup significantly enhanced the E-twenty-six transcription factors’ binding capacity, which is also typically increased by the two c.1-124 C > T/c.1-146 C > T hotspot TERTpmut. On the other hand, they were distinguished by enhanced affinity for the Krüppel proteins. The luciferase assay confirmed that TERTpdup behaved as gain-of-function mutations causing a 2,3-2,5 fold increase of TERT transcription. The present study provides new insights into TERTp mutational spectrum occurring in central nervous system tumors, with the identification of new recurrent somatic gain-of-function mutations, occurring in 0.8% of glioblastoma IDH-wildtype.

Published
2020
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27. Hoehn and Yahr Stage and Striatal Dat-SPECT Uptake Are Predictors of Parkinson’s Disease Motor Progression

Author

Holly Jackson, Judith Anzures-Cabrera, Kirsten I. Taylor, Gennaro Pagano, PASADENA Investigators, Prasinezumab Study Group, Claudia Altendorf, Chareyna Anandan, Giulia Andrews, Solène Ansquer, Raphaele Arrouasse, Sana Aslam, Jean-Philippe Azulay, Jeanette Baker, Ernest Balaguer Martinez, Shadi Barbu, Kara Bardram, Danny Bega, Helena Bejr-Kasem Marco, Isabelle Benatru, Eve Benchetrit, Felix Bernhard, Amir Besharat, Sagari Bette, Amelie Bichon, Andrew Billnitzer, Sophie Blondeau, Thomas Boraud, Freiderike Borngräber, James Boyd, Kathrin Brockmann, Matthew Brodsky, Ethan Brown, Christof Bruecke, Fabienne Calvas, Monica Canelo, Federico Carbone, Claire Carroll, Laura Casado Fernandez, Catherine Cassé-Perrot, Anna Castrioto, Helene Catala, Justine Chan, Samia Cheriet, Anthony Ciabarra, Joseph Classen, Juliana Coleman, Robert Coleman, Yaroslau Compta, Anne-Gaëlle Corbillé, Jean-Christophe Corvol, Mariana Cosgaya, Nabila Dahodwala, Philippe Damier, Elodie David, Thomas Davis, Marissa Dean, Berengere Debilly, Janell DeGiorgio, Andres Deik, Laure Delaby, Marie-Helene Delfini, Pascal Derkinderen, Philipp Derost, Maria de Toledo, Lisa Deuel, Ann Marie Diaz-Hernandez, Cameron Dietiker, Karina Dimenshteyn, Julio Dotor, Franck Durif, Jens Ebentheuer, Karla Maria Eggert, Sara Eichau Madueño, Claudia Eickhoff, Aaron Ellenbogen, Philipp Ellmerer, Ines Esparragosa Vazquez, Alexandre Eusebio, Siobhan Ewert, John Fang, Danielle Feigenbaum, Frederique Fluchere, Alexandra Foubert-Samier, Marie Fournier, Anne Fradet, Valerie Fraix, Samuel Frank, Franca Fries, Monique Galitzky, Marisol Gallardó Pérez, Jose Manuel García Moreno, Carmen Gasca, Thomas Gasser, Joyce Gibbons, Caroline Giordana, Alicia Gonzalez Martinez, Ira Goodman, Arantza Gorospe, Marie Goubeaud, David Grabli, Mangone Graziella, Stephan Grimaldi, Jeffrey Gross, Raquel Guimaraes-Costa, Andreas Hartmann, Christian Hartmann, Travis Hassell, Robert Hauser, Antonio Hernandez, Jorge Hernandez-Vara, Guenter Hoeglinger, Christian Homedes, Andrea Horta-Barba, Jean-Luc Houeto, Julius Huebl, Jennifer Hui, Stuart Isaacson, Joseph Jankovic, Annette Janzen, Junior Jauregui, Jocelyne Jiao, Maria Jose Marti Domenech, Xavier Joseph, Srinath Kadimi, Pat Kaminski, Silja Kannenberg, Jan Kassubek, Maya Katz, Kevin Klos, Shannon Klos, Christopher Kobet, Jennifer Koebert, Patricia Krause, Andrea Kuehn, Jaime Kulisevsky Bojarsky, Rajeev Kumar, Martin Kunz, Lille Kurvits, Kimberly Kwei, Simon Laganiere, Brice Laurens, Johannes Levin, Oren Levy, Peter LeWitt, Gurutz Linazasoro Cristóbal, Irene Litvan, Karlo Lizarraga, Katherine Longardner, Rocio Lopez, Lydia Lopez Manzanares, Sara Lucas del Pozo, Maria Rosario Luquin Puido, Nijee Luthra, Kelly Lyons, Sylvia Maass, Gerrit Machetanz, Yolanda Macias, David Maltete, Jorge Uriel Manez Miro, Louise-Laure Mariani, Juan Marin, Kathrin Marini, Ana Marques, Gloria Marti, Saul Martinez, Wassilios Meissner, Sara Meoni, Brit Mollenhauer, Dunia Mon Martinez, Johnson Moon, Elena Moro, Peter Morrison, Christoph Muehlberg, Manpreet Multani, Christine Murphy, Anthony Nicholas, Rajesh Pahwa, Antonio Palasi, Heidi Pape, Neepa Patel, Prity Patel, Marina Peball, Elizabeth Peckham, Terry Peery, Rafael Perez, Jesus Perez, Alisa Petit, Elmar Pinkhardt, Werner Poewe, Elsa Pomies, Cecile Preterre, Joseph Quinn, Olivier Rascol, Philippe Remy, Irene Richard, Benjamin Roeben, Emily Ruether, Jost-Julian Rumpf, David Russell, Hayet Salhi, Daniela Samaniego-Toro, Alexandra Samier-Foubert, Antonio Sanchez, Emmanuelle Schmitt, Alfons Schnitzler, Oliver Schorr, Julie Schwartzbard, Kerstin Schweyer, Klaus Seppi, Victoria Sergo, Holly Shill, Andrew Siderowf, Tanya Simuni, Umberto Spampinato, Ashok Sriram, Natividad Stover, Caroline Tanner, Arjun Tarakad, Carolyn Taylor, Claire Thalamus, Thomas Toothaker, Nadege Van Blercom, Nora Vanegas-Arrogave, Lydia Vela, Sylvian Vergnet, Tiphaine Vidal, Jonathan Vöglein, Ryan Walsh, Cheryl Waters, Mirko Wegscheider, Endy Weidinger, Caroline Weill, Gregor Wenzel, Tatiana Witjas, Isabel Wurster, Brenton Wright, Milan Zimmermann, Rafael Zuzuarregui, Markus Abt, Atieh Bamdadian, Teresa Barata, Nicholas Barbet, Sara Belli, Frank Boess, Azad Bonni, Edilio Borroni, Anne Boulay, Markus Britschgi, Jerome Chague, Valerie Cosson, Christian Czech, Dennis Deptula, Cheikh Diack, Rachelle Doody, Juergen Dukart, Giulia D’Urso, Sebastian Dziadek, Hannah Eddleston, Chris Edgar, Laurent Essioux, Morgan Farell, Rebecca Finch, Paulo Fontoura, Waltraud Gruenbauer, Andrea Hahn, Stefan Holiga, Michael Honer, Shirin Jadidi, Kelly Johnson-Wood, Markus Keller, Timothy Kilchenmann, Martin Koller, Thomas Kremer, Thomas Kustermann, Claire Landsdall, Michael Lindemann, Florian Lipsmeier, Cecile Luzy, Marianne Manchester, Maddalena Marchesi, Ferenc Martenyi, Meret Martin-Facklam, Katerina Mironova, Annabelle Monnet, Emma Moore, Daniel K Ness, Markus Niggli, Tania Nikolcheva, Susanne Ostrowitzki GP, Benedicte Passmard, Agnes Poirier, Anke Post, Megana Prasad, Nathalie Pross, Tiffany Quock, Benedicte Ricci, Ellen Rose, Christoph Sarry, Christine Schubert, Dennis Selkoe, Jeff Sevigny, Kaycee Sink, Hannah Staunton, Tim Steven, Alexander Strasak, Hanno Svoboda KT, Radhika Tripuraneni, Dylan Trundell, Daniel Umbricht, Lynne Verselis, Annamarie Vogt, Ekaterina Volkova-Volkmar, Cornelia Weber, Silke Weber, and Wagner Zago

Subjects
PASADENA, PPMI (Parkinson’s Progression Markers Initiative), Parkinson’s disease, progression predictors, ridge regression, disease stage, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Currently, no treatments available for Parkinson’s disease (PD) can slow PD progression. At the early stage of the disease, only a subset of individuals with PD progress quickly, while the majority have a slowly progressive form of the disease. In developing treatments that aim to slow PD progression, clinical trials aim to include individuals who are likely to progress faster, such that a treatment effect, if one exists, can be identified easier and earlier. The aim of the present study was to identify baseline predictors of clinical progression in early PD. We analyzed 12-month data acquired from the PASADENA trial Part 1 (NCT03100149, n = 76 participants who were allocated to the placebo arm and did not start symptomatic therapy) and the Parkinson’s Progression Markers Initiative (PPMI) study (n = 139 demographically and clinically matched participants). By using ridge regression models including clinical characteristics, imaging, and non-imaging biomarkers, we found that Hoehn and Yahr stage and dopamine transporter single-photon emission computed tomography specific binding ratios (Dat-SPECT SBR) in putamen ipsilateral to the side of motor symptom onset predicted PD progression at the early stage of the disease. Further studies are needed to confirm the validity of these predictors to identify with high accuracy individuals with early PD with a faster progression phenotype.

Published
2021
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30. A Phase II Study to Evaluate the Safety and Efficacy of Prasinezumab in Early Parkinson's Disease (PASADENA): Rationale, Design, and Baseline Data

Author

Gennaro Pagano, Frank G. Boess, Kirsten I. Taylor, Benedicte Ricci, Brit Mollenhauer, Werner Poewe, Anne Boulay, Judith Anzures-Cabrera, Annamarie Vogt, Maddalena Marchesi, Anke Post, Tania Nikolcheva, Gene G. Kinney, Wagner M. Zago, Daniel K. Ness, Hanno Svoboda, Markus Britschgi, Susanne Ostrowitzki, Tanya Simuni, Kenneth Marek, Martin Koller, Jeff Sevigny, Rachelle Doody, Paulo Fontoura, Daniel Umbricht, Azad Bonni, PASADENA Investigators, Prasinezumab Study Group, Claudia Altendorf, Chareyna Anandan, Giulia Andrews, Solène Ansquer, Raphaele Arrouasse, Sana Aslam, Jean-Philippe Azulay, Jeanette Baker, Ernest Balaguer Martinez, Shadi Barbu, Kara Bardram, Danny Bega, Helena Bejr-Kasem Marco, Isabelle Benatru, Eve Benchetrit, Felix Bernhard, Amir Besharat, Sagari Bette, Amelie Bichon, Andrew Billnitzer, Sophie Blondeau, Thomas Boraud, Freiderike Borngräber, James Boyd, Kathrin Brockmann, Matthew Brodsky, Ethan Brown, Christof Bruecke, Fabienne Calvas, Monica Canelo, Federico Carbone, Claire Carroll, Laura Casado Fernandez, Catherine Cassé-Perrot, Anna Castrioto, Helene Catala, Justine Chan, Samia Cheriet, Anthony Ciabarra, Joseph Classen, Juliana Coleman, Robert Coleman, Yaroslau Compta, Anne-Gaëlle Corbillé, Jean-Christophe Corvol, Mariana Cosgaya, Nabila Dahodwala, Philippe Damier, Elodie David, Thomas Davis, Marissa Dean, Berengere Debilly, Janell DeGiorgio, Andres Deik, Laure Delaby, Marie-Helene Delfini, Pascal Derkinderen, Philipp Derost, Maria de Toledo, Lisa Deuel, Ann Marie Diaz-Hernandez, Cameron Dietiker, Karina Dimenshteyn, Julio Dotor, Franck Durif, Jens Ebentheuer, Karla Maria Eggert, Sara Eichau Madueño, Claudia Eickhoff, Aaron Ellenbogen, Philipp Ellmerer, Ines Esparragosa Vazquez, Alexandre Eusebio, Siobhan Ewert, John Fang, Danielle Feigenbaum, Frederique Fluchere, Alexandra Foubert-Samier, Marie Fournier, Anne Fradet, Valerie Fraix, Samuel Frank, Franca Fries, Monique Galitzky, Marisol Gallardó Pérez, Jose Manuel García Moreno, Carmen Gasca, Thomas Gasser, Joyce Gibbons, Caroline Giordana, Alicia Gonzalez Martinez, Ira Goodman, Arantza Gorospe, Marie Goubeaud, David Grabli, Mangone Graziella, Stephan Grimaldi, Jeffrey Gross, Raquel Guimaraes-Costa, Andreas Hartmann, Christian Hartmann, Travis Hassell, Robert Hauser, Antonio Hernandez, Jorge Hernandez-Vara, Günter Höglinger, Christian Homedes, Andrea Horta-Barba, Jean-Luc Houeto, Julius Huebl, Jennifer Hui, Stuart Isaacson, Joseph Jankovic, Annette Janzen, Junior Jauregui, Jocelyne Jiao, Maria Jose Marti Domenech, Xavier Joseph, Srinath Kadimi, Pat Kaminski, Silja Kannenberg, Jan Kassubek, Maya Katz, Kevin Klos, Shannon Klos, Christopher Kobet, Jennifer Koebert, Patricia Krause, Andrea Kuehn, Jaime Kulisevsky Bojarsky, Rajeev Kumar, Martin Kunz, Lille Kurvits, Kimberly Kwei, Simon Laganiere, Brice Laurens, Johannes Levin, Oren Levy, Peter LeWitt, Gurutz Linazasoro Cristóbal, Irene Litvan, Karlo Lizarraga, Katherine Longardner, Rocio Lopez, Lydia Lopez Manzanares, Sara Lucas del Pozo, Maria Rosario Luquin Puido, Nijee Luthra, Kelly Lyons, Sylvia Maass, Gerrit Machetanz, Yolanda Macias, David Maltete, Jorge Uriel Manez Miro, Louise-Laure Mariani, Juan Marin, Kathrin Marini, Ana Marques, Gloria Marti, Saul Martinez, Wassilios Meissner, Sara Meoni, Dunia Mon Martinez, Johnson Moon, Elena Moro, Peter Morrison, Christoph Muehlberg, Manpreet Multani, Christine Murphy, Anthony Nicholas, Rajesh Pahwa, Antonio Palasi, Heidi Pape, Neepa Patel, Prity Patel, Marina Peball, Elizabeth Peckham, Terry Peery, Rafael Perez, Jesus Perez, Alisa Petit, Elmar Pinkhardt, Elsa Pomies, Cecile Preterre, Joseph Quinn, Olivier Rascol, Philippe Remy, Irene Richard, Benjamin Roeben, Emily Ruether, Jost-Julian Rumpf, David Russell, Hayet Salhi, Daniela Samaniego-Toro, Alexandra Samier-Foubert, Antonio Sanchez, Emmanuelle Schmitt, Alfons Schnitzler, Oliver Schorr, Julie Schwartzbard, Kerstin Schweyer, Klaus Seppi, Victoria Sergo, Holly Shill, Andrew Siderowf, Umberto Spampinato, Ashok Sriram, Natividad Stover, Caroline Tanner, Arjun Tarakad, Carolyn Taylor, Claire Thalamus, Thomas Toothaker, Nadege Van Blercom, Nora Vanegas-Arrogave, Lydia Vela, Sylvian Vergnet, Tiphaine Vidal, Jonathan Vöglein, Ryan Walsh, Cheryl Waters, Mirko Wegscheider, Endy Weidinger, Caroline Weill, Gregor Wenzel, Tatiana Witjas, Isabel Wurster, Brenton Wright, Milan Zimmermann, Rafael Zuzuarregui, Markus Abt, Atieh Bamdadian, Teresa Barata, Nicholas Barbet, Sara Belli, Frank Boess, Edilio Borroni, Jerome Chague, Valerie Cosson, Christian Czech, Dennis Deptula, Cheikh Diack, Juergen Dukart, Giulia D'Urso, Sebastian Dziadek, Hannah Eddleston, Chris Edgar, Laurent Essioux, Morgan Farell, Rebecca Finch, Waltraud Gruenbauer, Andrea Hahn, Stefan Holiga, Michael Honer, Shirin Jadidi, Kelly Johnson-Wood, Markus Keller, Timothy Kilchenmann, Thomas Kremer, Thomas Kustermann, Claire Landsdall, Michael Lindemann, Florian Lipsmeier, Cecile Luzy, Marianne Manchester, Ferenc Martenyi, Meret Martin-Facklam, Katerina Mironova, Annabelle Monnet, Emma Moore, Daniel K Ness, Markus Niggli, Benedicte Passmard, Agnes Poirier, Megana Prasad, Nathalie Pross, Tiffany Quock, Ellen Rose, Christoph Sarry, Christine Schubert, Dennis Selkoe, Kaycee Sink, Hannah Staunton, Tim Steven, Alexander Strasak, Kirsten Taylor, Radhika Tripuraneni, Dylan Trundell, Lynne Verselis, Ekaterina Volkova-Volkmar, Cornelia Weber, Silke Weber, and Wagner Zago

Subjects
Parkinson's disease, alpha-synuclein (α-syn), prasinezumab, monoclonal antibodies, disease progression, MDS-UPDRS = Movement Disorder Society—Unified Parkinson's Disease Rating Scale, Neurology. Diseases of the nervous system, RC346-429
Abstract

Background: Currently available treatments for Parkinson's disease (PD) do not slow clinical progression nor target alpha-synuclein, a key protein associated with the disease.Objective: The study objective was to evaluate the efficacy and safety of prasinezumab, a humanized monoclonal antibody that binds aggregated alpha-synuclein, in individuals with early PD.Methods: The PASADENA study is a multicenter, randomized, double-blind, placebo-controlled treatment study. Individuals with early PD, recruited across the US and Europe, received monthly intravenous doses of prasinezumab (1,500 or 4,500 mg) or placebo for a 52-week period (Part 1), followed by a 52-week extension (Part 2) in which all participants received active treatment. Key inclusion criteria were: aged 40–80 years; Hoehn & Yahr (H&Y) Stage I or II; time from diagnosis ≤2 years; having bradykinesia plus one other cardinal sign of PD (e.g., resting tremor, rigidity); DAT-SPECT imaging consistent with PD; and either treatment naïve or on a stable monoamine oxidase B (MAO-B) inhibitor dose. Study design assumptions for sample size and study duration were built using a patient cohort from the Parkinson's Progression Marker Initiative (PPMI). In this report, baseline characteristics are compared between the treatment-naïve and MAO-B inhibitor-treated PASADENA cohorts and between the PASADENA and PPMI populations.Results: Of the 443 patients screened, 316 were enrolled into the PASADENA study between June 2017 and November 2018, with an average age of 59.9 years and 67.4% being male. Mean time from diagnosis at baseline was 10.11 months, with 75.3% in H&Y Stage II. Baseline motor and non-motor symptoms (assessed using Movement Disorder Society—Unified Parkinson's Disease Rating Scale [MDS-UPDRS]) were similar in severity between the MAO-B inhibitor-treated and treatment-naïve PASADENA cohorts (MDS-UPDRS sum of Parts I + II + III [standard deviation (SD)]; 30.21 [11.96], 32.10 [13.20], respectively). The overall PASADENA population (63.6% treatment naïve and 36.4% on MAO-B inhibitor) showed a similar severity in MDS-UPDRS scores (e.g., MDS-UPDRS sum of Parts I + II + III [SD]; 31.41 [12.78], 32.63 [13.04], respectively) to the PPMI cohort (all treatment naïve).Conclusions: The PASADENA study population is suitable to investigate the potential of prasinezumab to slow disease progression in individuals with early PD.Trial Registration: NCT03100149.

Published
2021
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34. Optimizing the risk stratification of astrocytic tumors by applying the cIMPACT-NOW Update 3 signature: real-word single center experience

Author

Molica, Carmen, primary, Gili, Alessio, additional, Nardelli, Carlotta, additional, Pierini, Tiziana, additional, Arniani, Silvia, additional, Beacci, Donatella, additional, Mavridou, Elena, additional, Mandarano, Martina, additional, Corinaldesi, Rodolfo, additional, Metro, Giulio, additional, Gorello, Paolo, additional, Giovenali, Paolo, additional, Cenci, Nunzia, additional, Castrioto, Corrado, additional, Lupattelli, Marco, additional, Roila, Fausto, additional, Mecucci, Cristina, additional, and La Starza, Roberta, additional

Published
2023
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37. Preemptividade e otimização na dinâmica extensionista remota

Author

maiquel e silva gomes, Ana Carolina Mariano Castrioto, Maria de Lourdes dos Santos Antunes, and Miriam Assunção de Souza Lepcsh

Subjects
extension, remote, preemption
Abstract

The university extension promotes, in addition to extensive academic learning, the contact of the student with new fields of knowledge, both with professors from the institution itself and other external organizations that already operate in the professional market, especially those that have ample prominence in the labor field. Of that In this way, from the pandemic moment that the country is experiencing, the need to introduce preemptiveness and optimization in the remote extensionist dynamics of the Actuarial Sciences course at the Universidade Federal Fluminense (UFF) prevails, in order, in addition to aiming at efficiency in planning, at the same time the achievement of the stipulated goals is sought through effective processes. This study aims to analyze this need to introduce these mechanisms in the remote extensionist dynamics.

Published
2023
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38. Long‐term independence and quality of life after subthalamic stimulation in Parkinson disease

Author

Anna Castrioto, Bettina Debû, Emilie Cousin, Pierre Pelissier, Eugénie Lhommée, Amélie Bichon, Emmanuelle Schmitt, Andrea Kistner, Sara Meoni, Eric Seigneuret, Stephan Chabardes, Paul Krack, Elena Moro, Valérie Fraix, COUSIN, EMILIE, Centre Hospitalier Universitaire [Grenoble] (CHU), [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), IRMaGe (IRMaGe), CHU Grenoble-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Laboratoire de Psychologie et NeuroCognition (LPNC ), Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), CHU Grenoble, and Bern University Hospital [Berne] (Inselspital)

Subjects
subthalamic nucleus, [SCCO]Cognitive science, Treatment Outcome, Neurology, Deep Brain Stimulation, Activities of Daily Living, Quality of Life, Humans, Parkinson Disease, [SCCO] Cognitive science, Neurology (clinical), Follow-Up Studies
Abstract

International audience; Background and purpose: Studies on long-term nonmotor outcomes of subthalamic nucleus stimulation in Parkinson disease (PD) are scarce. This study reports on very long-term non-motor and motor outcomes in one of the largest cohorts of people with advanced PD, treated for >10 years with subthalamic nucleus stimulation. The main outcome was to document the evolution of independence in activities of daily living. The secondary outcomes were to measure the change in quality of life, as well as non-motor and motor outcomes.Methods: Patients were studied preoperatively, at 1 year, and beyond 10 years after subthalamic stimulation with an established protocol including motor, non-motor, and neuropsychological assessments.Results: Eighty-five people with PD were included. Independence scores in the off-medication condition (measured with the Schwab & England Activities of Daily Living Scale) as well as quality of life (measured with the Parkinson's Disease Questionnaire [PDQ]-37) remained improved at longest follow-up compared to preoperatively (respectively, p < 0.001, p = 0.015). Cognitive scores, measured with the Mattis Dementia Rating Scale, significantly worsened compared to before and 1 year after surgery (p < 0.001), without significant change in depression, measured with the Beck Depression Inventory. Motor fluctuations, dyskinesias, and off dystonia remained improved at longest follow-up (p < 0.001), with a significant reduction in dopaminergic treatment (45%, p < 0.001).Conclusions: This study highlights the long-term improvement of subthalamic stimulation on independence and quality of life, despite the progression of disease and the occurrence of levodopa-resistant symptoms.

Published
2022
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40. Spatiotemporal Gait Differences before and after Botulinum Toxin in People with Focal Dystonia: A Pilot Study.

Author

Cuinat, Justine, Debû, Bettina, Meoni, Sara, Pelissier, Pierre, Castrioto, Anna, Fraix, Valérie, and Moro, Elena

Subjects
FOCAL dystonia, BOTULINUM toxin, BOTULINUM A toxins, GAIT in humans, NONPARAMETRIC statistics
Abstract

Background: The impact of focal dystonia on gait has attracted little attention and remains elusive. Considering the importance of both visual and head control in gait, blepharospasm and cervical dystonia should affect gait. Improvement of cervical/eyelid control following botulinum toxin (BTX) injections would translate into gait changes. Objectives: To assess gait differences in people with focal dystonia before and after BTX treatment. Methods: Ten patients with blepharospasm, 10 patients with cervical dystonia, and 20 healthy age‐ and gender‐matched controls were included. Gait was assessed before and 1‐month after BTX injections using Biodex Gait Trainer™ 3. Gait velocity, cadence, step length, step asymmetry, and variability of step length were compared between patients and controls, and between the two time‐points using non‐parametric statistics. Results: At baseline, compared to controls, cervical dystonia patients showed reduced gait velocity, step length, and cadence. After BTX injections, while gait velocity and step length were significantly increased and step length variability reduced, gait parameters still differed between patients and controls. In blepharospasm patients, baseline gait velocity and step length were significantly smaller than in controls. After BTX injections, these gait parameters were significantly increased and variability decreased, so that patients no longer differed from controls. Conclusion: Gait differences exist between patients with focal dystonia not directly affecting the lower limbs and healthy controls. These gait abnormalities were improved differently by BTX treatment according to the type of dystonia. These disparities suggest different pathophysiological mechanisms and support the need for changes in rehabilitation routines in cervical dystonia. [ABSTRACT FROM AUTHOR]

Published
2024
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41. 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, and Tranchant, Christine

Subjects
PARKINSON'S disease, FOOD habits, CARBIDOPA, MOTORS
Abstract

Few studies have considered the influence of motor sign asymmetry on motivated behaviors in de novo drug-naïve Parkinson's disease (PD). We tested whether motor sign asymmetry could be associated with different motivated behavior patterns in de novo drug-naïve PD. We performed a cross-sectional study in 128 de novo drug-naïve PD patients and used the Ardouin Scale of Behavior in Parkinson's disease (ASBPD) to assess a set of motivated behaviors. We assessed motor asymmetry based on (i) side of motor onset and (ii) MDS-UPDRS motor score, then we compared right hemibody Parkinson's disease to left hemibody Parkinson's disease. According to the MDS-UPDRS motor score, patients with de novo right hemibody PD had significantly lower frequency of approach behaviors (p = 0.031), including nocturnal hyperactivity (p = 0.040), eating behavior (p = 0.040), creativity (p = 0.040), and excess of motivation (p = 0.017) than patients with de novo left hemibody PD. Patients with de novo left hemibody PD did not significantly differ from those with de novo right hemibody PD regarding avoidance behaviors including apathy, anxiety and depression. Our findings suggest that motor sign asymmetry may be associated with an imbalance between motivated behaviors in de novo drug-naïve Parkinson's disease. [ABSTRACT FROM AUTHOR]

Published
2023
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42. 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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43. Limbic Serotonergic Plasticity Contributes to the Compensation of Apathy in Early Parkinson's Disease

Author

Stéphane Prange, Elise Metereau, Audrey Maillet, Hélène Klinger, Emmanuelle Schmitt, Eugénie Lhommée, Amélie Bichon, Sophie Lancelot, Sara Meoni, Emmanuel Broussolle, Anna Castrioto, Léon Tremblay, Paul Krack, and Stéphane Thobois

Subjects
Cohort Studies, Neurology, Dopamine, Positron-Emission Tomography, Apathy, Humans, Parkinson Disease, Neurology (clinical)
Abstract

De novo Parkinson's disease (PD) patients with apathy exhibit prominent limbic serotonergic dysfunction and microstructural disarray. Whether this distinctive lesion profile at diagnosis entails different prognosis remains unknown.To investigate the progression of dopaminergic and serotonergic dysfunction and their relation to motor and nonmotor impairment in PD patients with or without apathy at diagnosis.Thirteen de novo apathetic and 13 nonapathetic PD patients were recruited in a longitudinal double-tracer positron emission tomography cohort study. We quantified the progression of presynaptic dopaminergic and serotonergic pathology using [After the initiation of dopamine replacement therapy, apathy, depression, and anxiety improved at follow-up in patients with apathy at diagnosis (n = 10) to the level of patients without apathy (n = 11). Patients had similar progression of motor impairment, whereas mild impulsive behaviors developed in both groups. Striato-pallidal and mesocorticolimbic presynaptic dopaminergic loss progressed similarly in both groups, as did serotonergic pathology in the putamen, caudate nucleus, and pallidum. Contrastingly, serotonergic innervation selectively increased in the ventral striatum and anterior cingulate cortex in apathetic patients, contributing to the reversal of apathy besides dopamine replacement therapy.Patients suffering from apathy at diagnosis exhibit compensatory changes in limbic serotonergic innervation within 5 years of diagnosis, with promising evidence that serotonergic plasticity contributes to the reversal of apathy. The relationship between serotonergic plasticity and dopaminergic treatments warrants further longitudinal investigations. © 2022 International Parkinson and Movement Disorder Society.

Published
2022
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45. Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

Author

Méreaux, Jean-Loup, primary, Davoine, Claire-Sophie, additional, Coutelier, Marie, additional, Guillot-Noël, Léna, additional, Castrioto, Anna, additional, Charles, Perrine, additional, Coarelli, Giulia, additional, Ewenczyk, Claire, additional, Klebe, Stephan, additional, Heinzmann, Anna, additional, Méneret, Aurélie, additional, Fauret-Amsellem, Anne-Laure, additional, de Sainte Agathe, Jean-Madeleine, additional, Brice, Alexis, additional, and Durr, Alexandra, additional

Published
2023
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46. Optimizing the risk stratification of astrocytic tumors by applying the cIMPACT- NOW Update 3 signature: real-word single center experience

Author

Carmen Molica, Tiziana Pierini, Alessio Gili, Carlotta Nardelli, Silvia Arniani, Elena Mavridou, Paolo Gorello, Rodolfo Corinaldesi, Giulio Metro, Paolo Giovenali, Corrado Castrioto, Marco Lupattelli, Fausto Roila, Cristina Mecucci, and Roberta La Starza

Abstract

Purpose. Implementation of a useful genetic diagnosis for the clinical management of patients with astrocytic tumors. Methods. We investigated 314 prospectively recruited diffuse astrocytic tumours by applying the cIMPACT-NOW Update 3 signature. Results. The cIMPACT-NOW Update 3 (cIMPACT 3+) markers, i.e. alterations of TERT promoter, EGFR, and/or chromosome 7 and 10, characterized 98.5% of IDH-wt cases. Interestingly, it was also found in 57.5% of IDH-mut cases. According to the genomic profile, four genetic subgroups could be distinguished: 1) IDH-wt/cIMPACT 3-negative (=4); 2) IDH-mut/cIMPACT 3-negative (n=14); 3) IDH-mut/cIMPACT 3+ (n=20); and 4) IDH-wt/cIMPACT 3+ (n=276). Multivariate analysis confirmed that IDH1/2 mutations confer a favorable prognosis (IDH-wt, HR 2.91 95%, CI 1.40-6.05), and validated the prognostic value of the cIMPACT 3+ signature. Conclusions. To accurately identify relevant prognostic categories, overcoming the limitations of histopathology and immunohistochemistry, molecular-cytogenetic analyses must be fully integrated into the diagnostic work-up of astrocytic tumors.

Published
2022
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47. Optimizing the risk stratification of astrocytic tumors by applying the cIMPACT- NOW Update 3 signature: real-word single center experience

Author

Molica, Carmen, primary, Pierini, Tiziana, additional, Gili, Alessio, additional, Nardelli, Carlotta, additional, Arniani, Silvia, additional, Mavridou, Elena, additional, Gorello, Paolo, additional, Corinaldesi, Rodolfo, additional, Metro, Giulio, additional, Giovenali, Paolo, additional, Castrioto, Corrado, additional, Lupattelli, Marco, additional, Roila, Fausto, additional, Mecucci, Cristina, additional, and Starza, Roberta La, additional

Published
2022
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49. Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

Author

Jean-Loup Méreaux, Claire-Sophie Davoine, Marie Coutelier, Léna Guillot-Noël, Anna Castrioto, Perrine Charles, Giulia Coarelli, Claire Ewenczyk, Stephan Klebe, Anna Heinzmann, Aurélie Méneret, Anne-Laure Fauret-Amsellem, Jean-Madeleine de Sainte Agathe, Alexis Brice, and Alexandra Durr

Subjects
Genetics, Genetics (clinical)
Abstract

Usually, molecular diagnosis of spinocerebellar ataxia is based on a step-by-step approach with targeted sizing of four repeat expansions accounting for most dominant cases, then targeted sequencing of other genes. Nowadays, genome sequencing allows detection of most pathogenic variants in a single step. The ExpansionHunter tool can detect expansions in short-read genome sequencing data. Recent studies have shown that ExpansionHunter can also be used to identify repeat expansions in exome sequencing data. We tested ExpansionHunter on spinocerebellar ataxia exomes in a research context as a second-line analysis, after exclusion of main CAG repeat expansions in half of the probands. First, we confirmed the detection of expansions in seven known expansion carriers and then, after targeted analysis ofATXN1,2,3and7,CACNA1A,TBP,ATN1,NOP56,ARandHTTin 498 exomes, we found 22 additional pathogenic expansions. Comparison with capillary migration sizing in 247 individuals and confirmation of all expanded alleles detected by ExpansionHunter demonstrated that for these loci, sensitivity and specificity reached 100%. ExpansionHunter detected but underestimated the repeat size for larger expansions, and the normal alleles distribution at each locus should be taken into account to detect expansions. Exome combined with ExpansionHunter is reliable to detect repeat expansions in selected loci as first-line analysis in spinocerebellar ataxia.

Published
2022

50. Contribution of Basal Ganglia to the Sense of Upright: A Double-Blind Within-Person Randomized Trial of Subthalamic Stimulation in Parkinson’s Disease with Pisa Syndrome

Author

Elena Moro, Anna Castrioto, Dominic Pérennou, Valérie Fraix, M Jaeger, Paul Krack, Bettina Debû, Stephan Chabardes, Céline Piscicelli, Laboratoire de Psychologie et NeuroCognition (LPNC ), Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Centre Hospitalier Universitaire [Grenoble] (CHU), [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), and University of Bern

Subjects
medicine.medical_specialty, Deep brain stimulation, Parkinson's disease, [SDV]Life Sciences [q-bio], Deep Brain Stimulation, medicine.medical_treatment, Basal Ganglia, law.invention, [SCCO]Cognitive science, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physical medicine and rehabilitation, Double-Blind Method, Randomized controlled trial, law, Neuromodulation, Basal ganglia, medicine, Deformity, Humans, 030304 developmental biology, 0303 health sciences, business.industry, Subthalamus, Parkinson Disease, Syndrome, Middle Aged, medicine.disease, Trunk, medicine.anatomical_structure, Space Perception, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

International audience; Background: Verticality perception is frequently altered in Parkinson’s disease (PD) with Pisa syndrome (PS). Is it the cause or the consequence of the PS? Objective: We tested the hypothesis that both scenarios coexist. Methods: We performed a double-blind within-person randomized trial (NCT02704910) in 18 individuals (median age 63.5 years) with PD evolving for a median of 17.5 years and PS for 2.5 years and treated with bilateral stimulation of the subthalamus nuclei (STN-DBS) for 6.5 years. We analyzed whether head and trunk orientations were congruent with the visual (VV) and postural (PV) vertical, and whether switching on one or both sides of the STN-DBS could modulate trunk orientation via verticality representation. Results: The tilted verticality perception could explain the PS in 6/18 (33%) patients, overall in three right-handers (17%) who showed net and congruent leftward trunk and PV tilts. Two of the 18 (11%) had an outstanding clinical picture associating leftward: predominant parkinsonian symptoms, whole-body tilt (head –11°, trunk –8°) and transmodal tilt in verticality perception (PV –10°, VV –8.9°). Trunk orientation or VV were not modulated by STN-DBS, whereas PV tilts were attenuated by unilateral or bilateral stimulations if it was applied on the opposite STN. Conclusion: In most cases of PS, verticality perception is altered by the body deformity. In some cases, PS seems secondary to a biased internal model of verticality, and DBS on the side of the most denervated STN attenuated PV tilts with a quasi-immediate effect. This is an interesting track for further clinical studies.

Published
2021
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