Search

Your search keyword '"Coubes, Philippe"' showing total 334 results
Start Over Author "Coubes, Philippe"
334 results on '"Coubes, Philippe"'

2. Secondary Worsening Following DYT1 Dystonia Deep Brain Stimulation: A Multi-country Cohort

Author

Tsuboi, Takashi, Cif, Laura, Coubes, Philippe, Ostrem, Jill L, Romero, Danilo A, Miyagi, Yasushi, Lozano, Andres M, De Vloo, Philippe, Haq, Ihtsham, Meng, Fangang, Sharma, Nutan, Ozelius, Laurie J, Shukla, Aparna Wagle, Cauraugh, James H, Foote, Kelly D, and Okun, Michael S

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Neurosciences, Bioengineering, Rehabilitation, Dystonia, Rare Diseases, Neurodegenerative, Assistive Technology, Clinical Research, DYT1, dystonia, deep brain stimulation, globus pallidus internus, pallidum, Psychology, Cognitive Sciences, Experimental Psychology, Biological psychology, Cognitive and computational psychology
Abstract

Objective: To reveal clinical characteristics of suboptimal responses to deep brain stimulation (DBS) in a multi-country DYT1 dystonia cohort. Methods: In this multi-country multi-center retrospective study, we analyzed the clinical data of DYT1 patients who experienced suboptimal responses to DBS defined as 30% postoperatively; however, secondary worsening of dystonia commenced between 6 months and 3 years following DBS. The improvement at the last follow-up was less than 30% despite optimally-placed leads, a trial of multiple programming settings, and additional DBS surgeries in all patients. The on-/off-stimulation comparison at the long-term follow-up demonstrated beneficial effects of DBS despite missing the threshold of 30% improvement over baseline. Conclusion: Approximately 8% of patients represent a more aggressive phenotype of DYT1 dystonia characterized by younger age at onset, faster disease progression, and cranial involvement, which seems to be associated with long-term suboptimal responses to DBS (e.g., secondary worsening). This information could be useful for both clinicians and patients in clinical decision making and patient counseling before and following DBS implantations. Patients with this phenotype may have different neuroplasticity, neurogenetics, or possibly distinct neurophysiology.

Published
2020

4. Transcutaneous ventriculo-peritoneal shunt catheter extrusion with silent bowel perforation following digestive surgery: a case report.

Author

Fernandez, Benjamin, Gautier, Antoine, Koumaré, Izoudine B, Fabre, Jean Michel, Coubes, Philippe, and Poulen, Gaëtan

Subjects
POST-infectious disorders, HYDROCEPHALUS, CATHETERS, FISTULA, NEUROSURGERY, CEREBROSPINAL fluid shunts
Abstract

This case report provides an account of transcutaneous ventriculo-peritoneal (VP) shunt extrusion with silent bowel perforation occurring 2 years post digestive surgery. A 22-year-old man treated since childhood for post-infectious hydrocephalus was referred to our neurosurgery department for an inflammatory wound to the right hypochondrium caused by an abandoned calcified VP shunt. This VP shunt was surgically removed without complications. The perforated bowel required no direct repair. Progress is favorable at 1 year follow-up. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

10. Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia

Author

Koy, Anne, Cirak, Sebahattin, Gonzalez, Victoria, Becker, Kerstin, Roujeau, Thomas, Milesi, Christophe, Baleine, Julien, Cambonie, Gilles, Boularan, Alain, Greco, Frederic, Perrigault, Pierre-Francois, Cances, Claude, Dorison, Nathalie, Doummar, Diane, Roubertie, Agathe, Beroud, Christophe, Körber, Friederike, Stüve, Burkhard, Waltz, Stephan, Mignot, Cyril, Nava, Caroline, Maarouf, Mohammad, Coubes, Philippe, and Cif, Laura

Published
2018
Full Text
View/download PDF

14. Intraputaminal Gene Delivery in Two Patients with Aromatic L‐Amino Acid Decarboxylase Deficiency

Author

François‐Heude, Marie‐Céline, primary, Poulen, Gaetan, additional, Flamand Roze, Emmanuel, additional, Nguyen Morel, Marie‐Ange, additional, Gras, Domitille, additional, Roch‐Toreilles, Isabelle, additional, Quintard, Adeline, additional, Baroux, Gaelle, additional, Meyer, Pierre, additional, Coubes, Philippe, additional, Milesi, Christophe, additional, Cambonie, Gilles, additional, Baleine, Julien, additional, Sola, Chrystelle, additional, Delye, Bénédicte, additional, Dimopoulou, Evgenia, additional, Sanchez, Stéphanie, additional, Gasnier, Mathieu, additional, Touati, Souad, additional, Zamora, Alberto, additional, Pontal, Daniel, additional, Leboucq, Nicolas, additional, Kouyoumdjian, Virginie, additional, Lebasnier, Adrien, additional, Sanquer, Sylvia, additional, Mariano‐Goulart, Denis, additional, Roujeau, Thomas, additional, and Roubertie, Agathe, additional

Published
2023
Full Text
View/download PDF

19. Auteurs et collaborateurs

Author

Achille, Sophie, primary, Alova, Ilona, additional, Aupiais, Brigitte, additional, de Barbot, Françoise, additional, Bernardeau, Corinne, additional, Bonnichon, Delphine, additional, Cataix-Nègre, Élisabeth, additional, Cif, Laura, additional, Colin, Amélie, additional, Coubes, Philippe, additional, Desailly, Éric, additional, Dorison, Nathalie, additional, Durufle, Aurélie, additional, Gallien, Philippe, additional, Gonzalez, Victoria, additional, Gressens, Pierre, additional, Guillot, Isabelle, additional, Hareb, Farid, additional, Jouve, Alain, additional, Khouri, Néjib, additional, Lecronier, Marie-Hélène, additional, Le Métayer, Michel, additional, Leroy-Malherbe, Véronique, additional, Marques, Inès, additional, Marret, Stéphane, additional, Mauclert, Ghislaine, additional, Mazeau, Michèle, additional, Nicolas, Benoît, additional, Rondeau, Stéphane, additional, Roujeau, Thomas, additional, Svendsen, Finn-Alain, additional, Thuilleux, Georges, additional, Toullet, Philippe, additional, Truscelli, Danièle, additional, and Vanhulle, Catherine, additional

Published
2017
Full Text
View/download PDF

25. Deep Brain Stimulation and Hypoxemic Perinatal Encephalopathy: State of Art and Perspectives

Author

Poulen, Gaëtan, Chan-Seng, Emilie, Sanrey, Emily, and Coubes, Philippe

Subjects
Science, Perspective, anoxic, internal globus pallidus, hypoxemic, encephalopathy, nervous system diseases, deep brain stimulation
Abstract

Cerebral palsy (CP) is a heterogeneous group of non-progressive syndromes with lots of clinical variations due to the extent of brain damages and etiologies. CP is majorly defined by dystonia and spasticity. The treatment of acquired dystonia in CP is very difficult. Many pharmacological treatments have been tried and surgical treatment consists of deep brain stimulation (continuous electrical neuromodulation) of internal globus pallidus (GPi). A peculiar cause of CP is neonatal encephalopathy due to an anoxic event in the perinatal period. Many studies showed an improvement of dystonia in CP patients with bilateral GPi DBS. However, it remains a variability in the range of 1% to 50%. Published case-series concerned mainly small population with a majority of adult patients. Selection of patients according to the clinical pattern, to the brain lesions observed on classical imaging and to DTI is the key of a high success rate of DBS in children with perinatal hypoxemic encephalopathy. Only a large retrospective study with a high number of patients in a homogeneous pediatric population with a long-term follow-up or a prospective multicenter trial investigation could answer with a high degree of certitude of the real interest of this therapeutic in children with hypoxemic perinatal encephalopathy.

Published
2021

27. Clinical epidemiology for childhood primary central nervous system tumors

Author

Bauchet, Luc, Rigau, Valérie, Mathieu-Daudé, Hélène, Fabbro-Peray, Pascale, Palenzuela, Gilles, Figarella-Branger, Dominique, Moritz, Jorge, Puget, Stéphanie, Bauchet, Fabienne, Pallusseau, Lorelei, Duffau, Hugues, Coubes, Philippe, Trétarre, Brigitte, Labrousse, François, Dhellemmes, Patrick, Société Française de Neurochirurgie Pédiatrique, Société Française de Neurochirurgie, Société Française de Neuropathologie, and Association des Neuro-Oncologues d’Expression Française

Published
2009
Full Text
View/download PDF

30. Loss‐of‐function variants in HOPS complex genes VPS16 and VPS41 cause early‐onset dystonia associated with lysosomal abnormalities

Author

Steel, Dora, Zech, Michael, Zhao, Chen, Barwick, Katy ES, Burke, Derek, Demailly, Diane, Kumar, Kishore R, Zorzi, Giovanna, Nardocci, Nardo, Kaiyrzhanov, Rauan, Wagner, Matias, Iuso, Arcangela, Berutti, Riccardo, Škorvánek, Matej, Necpál, Ján, Davis, Ryan, Wiethoff, Sarah, Mankad, Kshitij, Sudhakar, Sniya, Ferrini, Arianna, Sharma, Suvasini, Kamsteeg, Erik?Jan, Tijssen, Marina A, Verschuuren, Corien, Egmond, Martje E, Flowers, Joanna M, McEntagart, Meriel, Tucci, Arianna, Coubes, Philippe, Bustos, Bernabe I, Gonzalez-Latapi, Paulina, Tisch, Stephen, Darveniza, Paul, Gorman, Kathleen M, Peall, Kathryn J, Bötzel, Kai, Koch, Jan C, Kmiec, Tomasz, Plecko, Barbara, Boesch, Sylvia, Haslinger, Bernhard, Jech, Robert, Garavaglia, Barbara, Wood, Nick, Houlden, Henry, Gissen, Paul, Lubbe, Steven J, Sue, Carolyn M, Cif, Laura, Mencacci, Niccolò E, Anderson, Glenn, Kurian, Manju A, and Winkelmann, Juliane

Abstract

Objectives\ud The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognised. We aimed to investigate this paucity of diagnoses.\ud \ud Methods\ud We undertook weighted burden analysis of whole‐exome sequencing data from 138 individuals with unresolved generalised dystonia of suspected genetic aetiology, followed by additional case‐finding from international databases, first for the gene implicated by the burden analysis (VPS16), then for other functionally related genes. Electron microscopy was performed on patient‐derived cells.\ud \ud Results\ud Analysis revealed a significant burden for VPS16 (Fisher's exact test p‐value, 6.9x10−9). VPS16 encodes a subunit of the homotypic fusion and vacuole protein sorting (HOPS) complex, which plays a key role in autophagosome‐lysosome fusion. A total of 18 individuals harbouring heterozygous loss‐of‐function VPS16 variants, and one with a microdeletion, were identified. These individuals experienced early‐onset progressive dystonia with predominant cervical, bulbar, orofacial and upper limb involvement. Some patients had a more complex phenotype with additional neuropsychiatric and/or developmental comorbidities. We also identified biallelic loss‐of‐function variants in VPS41, another HOPS‐complex encoding genes, in an individual with infantile‐onset generalised dystonia. Electron microscopy of patient‐derived lymphocytes and fibroblasts from both VPS16 and VPS41 patients showed vacuolar abnormalities suggestive of impaired lysosomal function.\ud \ud Interpretation\ud Our study strongly supports a role for HOPS complex dysfunction in the pathogenesis of dystonia, though variants in different subunits display different phenotypic and inheritance characteristics.

Published
2020

31. Comparison between 1.5- and 3-T Magnetic Resonance Acquisitions for Direct Targeting Stereotactic Procedures for Deep Brain Stimulation: A Phantom Study

Author

Poulen, Gaëtan, Chan Seng, Emilie, Menjot de Champfleur, Nicolas, Cif, Laura, Cyprien, Fabienne, Perez, Jerome, Coubes, Philippe, Menjot De Champfleur, Nicolas, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut de Génomique Fonctionnelle (IGF), Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS), Département de Neuroradiologie[Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Herrada, Anthony, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), and Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM)

Subjects
Deep brain stimulation, [SDV.MHEP.CHI] Life Sciences [q-bio]/Human health and pathology/Surgery, Deep Brain Stimulation, medicine.medical_treatment, MESH: Stereotaxic Techniques, Field strength, Phantom study, MESH: Imaging, Three-Dimensional, [SDV.MHEP.CHI]Life Sciences [q-bio]/Human health and pathology/Surgery, Imaging phantom, 030218 nuclear medicine & medical imaging, MESH: Magnetic Resonance Imaging, Stereotaxic Techniques, 03 medical and health sciences, Imaging, Three-Dimensional, 0302 clinical medicine, Stereotactic neurosurgery, Distortion, medicine, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Accuracy, Physics, MESH: Humans, medicine.diagnostic_test, Phantoms, Imaging, Magnetic resonance imaging, Magnetic Resonance Imaging, Neuromodulation (medicine), MRI-based study, MESH: Phantoms, Imaging, Direct targeting, Stereotaxy, Surgery, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), Comparative study, MESH: Deep Brain Stimulation, 030217 neurology & neurosurgery, Biomedical engineering
Abstract

Introduction: Deep brain stimulation (DBS) is a well-established treatment for movement disorders. High magnetic fields could have an impact on distortion. We evaluated 1.5- and 3-T magnetic resonance imaging (MRI) sequences for accuracy, precision, and trueness of our MRI-guided direct targeting protocol. Methods: Effects of distortion on MR sequences (T1- and T2-weighted sequences) can be evaluated using a dedicated phantom (Elekta). Field strength capabilities were assessed on Siemens Avanto (1.5 T) and Skyra (3 T) scanners. We assessed the precision of our stereotactic MRI-guided procedure. Results: We focused on the risk of error due to a high field strength. Error values on the localizer box were between 0.4 and 0.7 mm at 1.5 T and between 0.6 and 2 mm at 3 T. The most accurate 1.5-T sequence is the 3D FLASH T1-weighted sequence, which had an accuracy value of 0.6 mm. At 3 T, the accuracy value of the isotropic 3D FLASH T1-weighted sequence was 1.6 mm. Conclusion: Given the millimetric size of stereotactic targets and electrodes, lead implantation for neuromodulation therapy needs to be accurate. We demonstrate that 3-T imaging could not be used for stereotaxy in our MRI-guided direct targeting protocol because of a risk of error induced by distortion.

Published
2020
Full Text
View/download PDF

37. Singular Dyt6 Phenotypes in Association With New Thap1 Frameshift Mutations

Author

Blanchard, Arnaud, Roubertie, Agathe, Simonetta-Moreau, Marion, Ea, Vuthy, Coquart, Coline, Frederic, Melissa Y., Gallouedec, Gael, Adenis, Jean-Paul, Benatru, Isabelle, Borg, Michel, Burbaud, Pierre, Calvas, Patrick, Cif, Laura, Damier, Philippe, Destee, Alain, Faivre, Laurence, Guyant-Marechal, Lucie, Janik, Piotr, Janoura, Samer, Kreisler, Alexandre, Lusakowska, Anna, Odent, Sylvie, Potulska-Chromik, Anna, Rudzińska, Monika, Thobois, Stephane, Vuillaume, Isabelle, Tranchant, Christine, Tuffery-Giraud, Sylvie, Coubes, Philippe, Sablonnière, Bernard, Claustres, Mireille, and Collod-Béroud, Gwenaelle

Published
2011
Full Text
View/download PDF

40. Secondary Worsening Following DYT1 Dystonia Deep Brain Stimulation: A Multi-country Cohort

Author

Tsuboi, Takashi, primary, Cif, Laura, additional, Coubes, Philippe, additional, Ostrem, Jill L., additional, Romero, Danilo A., additional, Miyagi, Yasushi, additional, Lozano, Andres M., additional, De Vloo, Philippe, additional, Haq, Ihtsham, additional, Meng, Fangang, additional, Sharma, Nutan, additional, Ozelius, Laurie J., additional, Wagle Shukla, Aparna, additional, Cauraugh, James H., additional, Foote, Kelly D., additional, and Okun, Michael S., additional

Published
2020
Full Text
View/download PDF

44. Dramatic Weight Loss with Levetiracetam

Author

Gelisse, Philippe, Juntas-Morales, Raul, Genton, Pierre, Hillaire-Buys, Dominique, Diaz, Ophélie, Coubes, Philippe, and Crespel, Arielle

Published
2008

45. Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Author

Steel, Dora, Zech, Michael, Zhao, Chen, Barwick, Katy E. S., Burke, Derek, Demailly, Diane, Kumar, Kishore R., Zorzi, Giovanna, Nardocci, Nardo, Kaiyrzhanov, Rauan, Wagner, Matias, Iuso, Arcangela, Berutti, Riccardo, Škorvánek, Matej, Necpál, Ján, Davis, Ryan, Wiethoff, Sarah, Mankad, Kshitij, Sudhakar, Sniya, Ferrini, Arianna, Sharma, Suvasini, Kamsteeg, Erik‐Jan, Tijssen, Marina A., Verschuuren, Corien, Egmond, Martje E., Flowers, Joanna M., McEntagart, Meriel, Tucci, Arianna, Coubes, Philippe, Bustos, Bernabe I., Gonzalez‐Latapi, Paulina, Tisch, Stephen, Darveniza, Paul, Gorman, Kathleen M., Peall, Kathryn J., Bötzel, Kai, Koch, Jan C., Kmieć, Tomasz, Plecko, Barbara, Boesch, Sylvia, Haslinger, Bernhard, Jech, Robert, Garavaglia, Barbara, Wood, Nick, Houlden, Henry, Gissen, Paul, Lubbe, Steven J., Sue, Carolyn M., Cif, Laura, Mencacci, Niccolò E., Anderson, Glenn, Kurian, Manju A., and Winkelmann, Juliane

Subjects
ddc
Published
2019

Catalog

Books, media, physical & digital resources
See catalog results