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Your search keyword '"Benjamin Le Toullec"' showing total 3 results
Start Over Author "Benjamin Le Toullec" Topic 03 medical and health sciences
3 results on '"Benjamin Le Toullec"'

1. Caractérisation des formes autosomiques récessives de la maladie de Parkinson dans une large cohorte multi-centrique

Author

Thomas Courtin, Ahmed Bouhouche, Mouna Ben Djebara, Riadh Gouider, Olga Corti, Mathieu Anheim, Eric Le Guern, Kathy Larcher, Mustapha Benmahdjoub, Meriem Tazir, Christine Tranchant, Ariane Lunati, Hasmet Hanagasi, Chokri Mhiri, Christelle Tesson, Başar Bilgiç, Marie Vidailhet, Fabienne Clot, François Tison, Mohammed Arezki, Graziella Mangone, Sawssan Ben Romdhan, Marion Houot, Ebba Lohmann, Andrew B. Singleton, Emmanuel Roze, Suzanne Lesage, Benjamin Le Toullec, Emmanuel Broussolle, Jean-Christophe Corvol, Alexis Brice, François Viallet, Murat Emre, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de la Mémoire et de la Maladie d'Alzheimer [Paris] (IM2A), Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Mohammed V, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Laboratoire Parole et Langage (LPL), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (CNC), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Istanbul University, and National Institutes of Health [Bethesda] (NIH)

Subjects
Male, 0301 basic medicine, Parkinson's disease, genotype-phenotype correlations, DNA Mutational Analysis, Protein Deglycase DJ-1, Disease, 0302 clinical medicine, Child, Aged, 80 and over, education.field_of_study, Parkinsonism, Parkinson Disease, autosomal recessive inheritance, Middle Aged, 3. Good health, Neurology, Cohort, Female, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, Ubiquitin-Protein Ligases, Population, Genes, Recessive, PINK1, Article, Young Adult, 03 medical and health sciences, Internal medicine, medicine, Humans, Dementia, Genetic Predisposition to Disease, PRKN, education, Aged, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, Dysautonomia, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Parkinson’s disease, Neurology (clinical), business, Protein Kinases, 030217 neurology & neurosurgery
Abstract

Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson's disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ-1 mutations in a cohort of 1587 cases. Mutations were found in 14.1% of patients: 27.6% were familial and 8% were isolated. PRKN was the gene most frequently mutated in Caucasians whereas PINK1 mutations predominated in Arab-Berber individuals. Patients with PRKN mutations had an earlier age at onset, and less asymmetry, levodopa-induced motor complications, dysautonomia, and dementia than those without mutations. This article is protected by copyright. All rights reserved.

Published
2020
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2. Parkinson's disease polygenic risk score is not associated with impulse control disorders: A longitudinal study

Author

Vanessa Brochard, Fanny Artaud, Frédéric Bourdain, S. Sambin, Valérie Mesnage, O. Rascol, Clemens R. Scherzer, Fabienne Ory-Magne, Isabelle Rieu, Jean-Christophe Corvol, Fanny Pineau, Merry Mazmanian, Louise-Laure Mariani, Monica Roy, Hélène Bertrand, Marie Vidailhet, Graziella Mangone, Tiphaine Vidal, Benjamin Le Toullec, Bérangère Debilly, Sara Leder, Emmanuel Roze, Bertrand Degos, Samir Bekadar, Cecilia Bonnet, Genetic core: Alexis Brice, Jean-Philippe Brandel, Antoine Faurie-Grepon, Hana You, Monique Galitsky, Stephan Klebe, Julia Kraemmer, J. Ihle, Mostafa Hajji, Virginie Bayet, David Grabli, Richard Levy, P. Derkinderen, Hakima Manseur, Ll Mariani, Julie Socha, Suzanne Lesage, Florence Cormier-Dequaire, Statistical analyses, A. Marques, Fernando Pico, Khadija Tahiri, Andreas Hartmann, Stéphane Bernard, Olivier Rascol, Eve Benchetrit, Alexis Brice, Julia Muellner, F. Durif, Violaine Plante-Bordeneuve, Sponsor activities, J-C Corvol, Alain Mallet, Co-investigators, Coralie Villeret, Pascal Derkinderen, Franck Durif, Anne-Marie Bonnet, Neuropsychologists, Christine Brefel-Courbon, Mélissa Tir, A. Elbaz, Lucette Lacomblez, Alexis Elbaz, Elsa Pomies, F. Artaud, Principal investigators for sites, Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), NS-Park/FCRIN Network, UMS 015, Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Toulouse [Toulouse], Centre d'investigation clinique de Toulouse (CIC 1436), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), Brigham & Women’s Hospital [Boston] (BWH), Harvard Medical School [Boston] (HMS), Centre de recherche en épidémiologie et santé des populations (CESP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Université Paris-Sud - Paris 11 - Faculté de médecine (UP11 UFR Médecine), Université Paris-Sud - Paris 11 (UP11), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Foch [Suresnes], Fondation A. Rothschild, Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Clermont-Ferrand, CHU Saint-Antoine [AP-HP], Centre Hospitalier de Versailles André Mignot (CHV), Hôpital Henri Mondor, Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), ANR-10-IAIHU-06 Ministère des Affaires Sociales et de la Santé: AOR0810 Agence Nationale de Sécurité du Médicament et des Produits de Santé, ANSM: ANSM-2013, This project was funded by grants from the French Ministry of Health (Programme Hospitalier de Recherche Clinique, AOR0810 ) and from the French Drug Agency (Agence Nationale de Sécurité et des Médicaments, ANSM-2013 ). The research leading to these results has received funding from the program ' Investissements d’Avenir ' ANR-10-IAIHU-06 . We want to express our gratitude to all the participants who made this study possible., ANR-10-IAHU-0006,IHU-A-ICM,Institut de Neurosciences Translationnelles de Paris(2010), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
0301 basic medicine, Male, medicine.medical_specialty, Longitudinal study, Multifactorial Inheritance, Parkinson's disease, Movement disorders, Genome-wide association study, Disease, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Genetic predisposition, Humans, Longitudinal Studies, Age of Onset, Adverse effect, Generalized estimating equation, Aged, business.industry, Parkinson Disease, Middle Aged, medicine.disease, 3. Good health, Disruptive, Impulse Control, and Conduct Disorders, 030104 developmental biology, Neurology, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), France, Geriatrics and Gerontology, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

International audience; Objective: To examine the relationship between a Parkinson's disease (PD) polygenic risk score (PRS) and impulse control disorders (ICDs) in PD. Background: Genome wide association studies (GWAS) have brought forth a PRS associated with increased risk of PD and younger disease onset. ICDs are frequent adverse effects of dopaminergic drugs and are also more frequent in patients with younger disease onset. It is unknown whether ICDs and PD share genetic susceptibility. Methods: We used data from a multicenter longitudinal cohort of PD patients with annual visits up to 6 years (DIG-PD). At each visit ICDs, defined as compulsive gambling, buying, eating, or sexual behavior were evaluated by movement disorders specialists. We genotyped DNAs using the Megachip assay (Illumina) and calculated a weighted PRS based on 90 SNPs associated with PD. We estimated the association between PRS and prevalence of ICDs at each visit using Poisson generalized estimating equations, adjusted for dopaminergic treatment and other known risk factors for ICDs. Results: Of 403 patients, 185 developed ICDs. Patients with younger age at onset had a higher prevalence of ICDs (p < 0.001) as well as higher PRS values (p = 0.06). At baseline, there was no association between the PRS and ICDs (overall, p = 0.84). The prevalence of ICDs increased over time similarly across the quartiles of the PRS (overall, p = 0.88; DA users, p = 0.99). Conclusion: Despite younger disease onset being associated with both higher PRS and ICD prevalence, our findings are not in favor of common susceptibility genes for PD and ICDs.

Published
2020
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3. A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood

Author

A Roubergue, Mariana Atencio, Marta Ruiz, Aurélie Méneret, Vanessa Brochard, Maryvonne Retail, Samantha Caillet, Sandrine Leroy, Jean-Christophe Corvol, Emmanuel Roze, Elodie Hainque, Florence Habarou, Isaac Adanyeguh, Sophie Rivaud-Péchoux, Benjamin Le Toullec, Chris Ottolenghi, Constance Flamand-Roze, Fanny Mochel, Mohamed Doulazmi, Fanny Charbonnier-Beaupel, Marie Vidailhet, Florence Cormier, BMC, BMC, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-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), Centre d'investigation clinique Neurosciences [CHU Pitié Salpêtrière] (CIC Neurosciences), Centre d'investigation clinique pluridisciplinaire [CHU Pitié Salpêtrière] (CIC-P 1421), 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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), EpiScience [London, UK], Service de Neurologie et Unité Neurovasculaire [Centre Hospitalier Sud-Francilien], Université Paris-Sud - Paris 11 (UP11)-Centre Hospitalier Sud Francilien, IFPPC - Institut de formation et de recherche pour les professionnels de la santé & Centre de santé et de thérapies Psycho Corporelles [Paris], CAMKeys [Paris], Service de biochimie métabolique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Adaptation Biologique et Vieillissement = Biological Adaptation and Ageing (B2A), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU), CHU Saint-Antoine [AP-HP], Groupe de Recherche Clinique Neurométabolique [Paris], Université Pierre et Marie Curie - Paris 6 (UPMC), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CH Evry-Corbeil-CH Evry-Corbeil, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute ( ICM ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -CHU Pitié-Salpêtrière [APHP], Département de Neurologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP)-IFR70-Hôpital de la Salpétrière, CIC Pitié Neurosciences, Assistance publique - Hôpitaux de Paris (AP-HP)-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -CHU Pitié-Salpêtrière [APHP], Service de Diététique [AP-HP Hôpital Pitié-Salpêtrière], AP-HP Hôpital Pitié-Salpétrière, Université Paris-Sud - Paris 11 ( UP11 ) -Centre Hospitalier Sud Francilien, Pharmacie [AP-HP Hôpital Pitié-Salpêtrière], Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Adaptation Biologique et Vieillissement = Biological Adaptation and Ageing ( B2A ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Sorbonne Universités, Département de Neurologie [AP-HP Hôpital Saint-Antoine], AP-HP - Hôpital Saint-Antoine, Département de Génétique [AP-HP Hôpital Pitié-Salpêtrière], Université Pierre et Marie Curie - Paris 6 ( UPMC ), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-IFR70-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP], CHU Pitié-Salpêtrière [APHP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, [SDV]Life Sciences [q-bio], lcsh:Medicine, Hemiplegia, Placebo, Double blind, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Double-Blind Method, ATP1A3, Humans, Medicine, Pharmacology (medical), Ictal, In patient, Triglycerides, Genetics (clinical), Cross-Over Studies, [ SDV ] Life Sciences [q-bio], business.industry, Research, Alternating hemiplegia of childhood, lcsh:R, General Medicine, Triheptanoin, medicine.disease, Crossover trial, Crossover study, 3. Good health, [SDV] Life Sciences [q-bio], 030104 developmental biology, chemistry, Dietary Supplements, Female, business, 030217 neurology & neurosurgery
Abstract

International audience; AbstractBackgroundBased on the hypothesis of a brain energy deficit, we investigated the safety and efficacy of triheptanoin on paroxysmal episodes in patients with alternating hemiplegia of childhood due to ATP1A3 mutations.MethodsWe conducted a randomized, double-blind, placebo-controlled crossover study of triheptanoin, at a target dose corresponding to 30% of daily calorie intake, in ten patients with alternating hemiplegia of childhood due to ATP1A3 mutations. Each treatment period consisted of a 12-week fixed-dose phase, separated by a 4-week washout period. The primary outcome was the total number of paroxysmal events. Secondary outcomes included the number of paroxysmal motor-epileptic events; a composite score taking into account the number, severity and duration of paroxysmal events; interictal neurological manifestations; the clinical global impression-improvement scale (CGI-I); and safety parameters. The paired non-parametric Wilcoxon test was used to analyze treatment effects.ResultsIn an intention-to-treat analysis, triheptanoin failed to reduce the total number of paroxysmal events (p = 0.646), including motor-epileptic events (p = 0.585), or the composite score (p = 0.059). CGI-I score did not differ between triheptanoin and placebo periods. Triheptanoin was well tolerated.ConclusionsTriheptanoin does not prevent paroxysmal events in Alternating hemiplegia of childhood. We show the feasibility of a randomized placebo-controlled trial in this setting.Trial registrationThe study has been registered with clinicaltrials.gov (NCT002408354) the 03/24/2015.

Published
2016
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