34 results on '"Bruneteau, Gaelle"'
Search Results
2. Effect of ultrasound-mediated blood-spinal cord barrier opening on survival and motor function in females in an amyotrophic lateral sclerosis mouse model
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Montero, Anne-Sophie, Aliouat, Ilyes, Ribon, Matthieu, Canney, Michael, Goldwirt, Lauriane, Mourah, Samia, Berriat, Félix, Lobsiger, Christian S., Pradat, Pierre-François, Salachas, François, Bruneteau, Gaëlle, Carpentier, Alexandre, and Boillée, Séverine
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- 2024
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3. Acoustic Change Over Time in Spastic and/or Flaccid Dysarthria in Motor Neuron Diseases
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Leveque, Nathalie, Slis, Anneke, Lancia, Leonardo, Bruneteau, Gaelle, and Fougeron, Cecile
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Articulation disorders -- Diagnosis -- Evaluation ,Health - Abstract
Purpose: This study aims to investigate acoustic change over time as biomarkers to differentiate among spastic-flaccid dysarthria associated with amyotrophic lateral sclerosis (ALS), spastic dysarthria associated with primary lateral sclerosis (PLS), flaccid dysarthria associated with spinal and bulbar muscular atrophy (SBMA), and to explore how these acoustic parameters are affected by dysarthria severity. Method: Thirty-three ALS patients with mixed flaccid-spastic dysarthria, 17 PLS patients with pure spastic dysarthria, 18 SBMA patients with pure flaccid dysarthria, and 70 controls, all French speakers, were included in the study. Speakers produced vowel-glide sequences targeting different vocal tract shape changes. The mean and coefficient of variation of the total squared change of mel frequency cepstral coefficients were used to capture the degree and variability of acoustic changes linked to vocal tract modifications over time. Differences in duration of acoustic events were also measured. Results: All pathological groups showed significantly less acoustic change compared to controls, reflecting less acoustic contrast in sequences. Spastic and mixed spastic-flaccid dysarthric speakers showed smaller acoustic changes and slower sequence production compared to flaccid dysarthria. For dysarthria subtypes associated with a spastic component, reduced degree of acoustic change was also associated with dysarthria severity. Conclusions: The acoustic parameters partially differentiated among the dysarthria subtypes in relation to motor neuron diseases. While similar acoustic patterns were found in spastic-flaccid and spastic dysarthria, crucial differences were found between these two subtypes relating to variability. The acoustic patterns were much more variable in ALS. This method forms a promising clinical tool as a diagnostic marker of articulatory impairment, even at mild stage of dysarthria progression in all subtypes., Motor neuron diseases (MNDs) embrace a group of neurodegenerative diseases affecting lower motor neuron (LMN) and/or upper motor neuron (UMN) systems. One of the diseases that involves the LMN system [...]
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- 2022
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4. Neuro-Psychological Outcome of ICU-Admitted COVID-19 Patients Presenting With CNS Complications
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Pelle, Juliette, Nedelec, Thomas, Marois, Clémence, Delorme, Cecile, Corvol, Jean-Christophe, Delattre, Jean-Yves, Carvalho, Stephanie, Sagnes, Sandrine, Dubois, Bruno, Navarro, Vincent, Louapre, Celine, Stojkovic, Tanya, Idbaih, Ahmed, Rosso, Charlotte, Grabli, David, Gales, Ana Zenovia, Millet, Bruno, Rohaut, Benjamin, Bayen, Eleonore, Dupont, Sophie, Bruneteau, Gaelle, Lehericy, Stephane, Seilhean, Danielle, Durr, Alexandra, Lamari, Foudil, Houot, Marion, Brochard, Vanessa Batista, Lubetzki, Catherine, Seilhean, Danielle, Pradat-Diehl, Pascale, Rosso, Charlotte, Hoang-Xuan, Khe, Fontaine, Bertrand, Naccache, Lionel, Fossati, Philippe, Arnulf, Isabelle, Durr, Alexandra, Carpentier, Alexandre, Edel, Yves, Robain, Gilberte, Thoumie, Philippe, Degos, Bertrand, Sharshar, Tarek, Alamowitch, Sonia, Apartis-Bourdieu, Emmanuelle, Peretti, Charles-Siegried, Ursu, Renata, Dzierzynski, Nathalie, Bourron, Kiyoka Kinugawa, Belmin, Joel, Oquendo, Bruno, Pautas, Eric, Verny, Marc, Samson, Yves, Leder, Sara, Leger, Anne, Deltour, Sandrine, Baronnet, Flore, Bombois, Stephanie, Touat, Mehdi, Idbaih, Ahmed, Sanson, Marc, Dehais, Caroline, Houillier, Caroline, Laigle-Donadey, Florence, Psimaras, Dimitri, Alenton, Agusti, Younan, Nadia, Villain, Nicolas, Grabli, David, del Mar Amador, Maria, Bruneteau, Gaelle, Louapre, Celine, Mariani, Louise-Laure, Mezouar, Nicolas, Mangone, Graziella, Meneret, Aurelie, Hartmann, Andreas, Tarrano, Clement, Bendetowicz, David, Pradat, Pierre-François, Baulac, Michel, Sambin, Sara, Pichit, Phintip, Chochon, Florence, Hesters, Adele, Herlin, Bastien, Nguyen, An Hung, Procher, Valerie, Demoule, Alexandre, Morawiec, Elise, Mayaux, Julien, Faure, Morgan, Ewenczyk, Claire, Coarelli, Giulia, Heinzmann, Anna, Stojkovic, Tanya, Masingue, Marion, Bassez, Guillaume, Navarro, Vincent, An, Isabelle, Worbe, Yulia, Lambrecq, Virginie, Debs, Rabab, Musat, Esteban Munoz, Lenglet, Timothee, Lambrecq, Virginie, Hanin, Aurelie, Chougar, Lydia, Shor, Nathalia, Pyatigorskaya, Nadya, Galanaud, Damien, Leclercq, Delphine, Demeret, Sophie, Rohaut, Benjamin, Cao, Albert, Marois, Clemence, Weiss, Nicolas, Gassama, Salimata, Guennec, Loic Le, Degos, Vincent, Jacquens, Alice, Similowski, Thomas, Morelot-Panzini, Capucine, Rotge, Jean-Yves, Saudreau, Bertrand, Millet, Bruno, Pitron, Victor, Sarni, Nassim, Girault, Nathalie, Maatoug, Redwan, Leu, Smaranda, Bayen, Eleonore, Thivard, Lionel, Mokhtari, Karima, Plu, Isabelle, Gonçalves, Bruno, Bottin, Laure, Yger, Marion, Ouvrard, Gaelle, Haddad, Rebecca, Ketz, Flora, Lafuente, Carmelo, Oasi, Christel, Megabarne, Bruno, Herve, Dominique, Salman, Haysam, Rametti-Lacroux, Armelle, Chalançon, Alize, Herve, Anais, Royer, Hugo, Beauzor, Florence, Maheo, Valentine, Laganot, Christelle, Minelli, Camille, Fekete, Aurelie, Grine, Abel, Biet, Marie, Hilab, Rania, Besnard, Aurore, Bouguerra, Meriem, Goudard, Gwen, Houairi, Saida, Al-Youssef, Saba, Pires, Christine, Oukhedouma, Anissa, Siuda-Krzywicka, Katarzyna, Malkinson, Tal Seidel, Agguini, Hanane, Said, Safia, and Houot, Marion
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- 2023
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5. Survival of amyotrophic lateral sclerosis patients after admission to the intensive care unit for acute respiratory failure: an observational cohort study
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Mayaux, Julien, Lambert, Jérôme, Morélot-Panzini, Capucine, Gonzalez-Bermejo, Jésus, Delemazure, Julie, Llontop, Claudia, Bruneteau, Gaëlle, Salachas, François, Dres, Martin, Demoule, Alexandre, and Similowski, Thomas
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- 2019
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6. The multidimensional nature of dyspnoea in amyotrophic lateral sclerosis patients with chronic respiratory failure: Air hunger, anxiety and fear
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Morélot-Panzini, Capucine, Perez, Thierry, Sedkaoui, Kamila, de Bock, Elodie, Aguilaniu, Bernard, Devillier, Philippe, Pignier, Christophe, Arnould, Benoit, Bruneteau, Gaëlle, and Similowski, Thomas
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- 2018
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7. The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophy
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Querin, Giorgia, Lenglet, Timothée, Debs, Rabab, Stojkovic, Tanya, Behin, Anthony, Salachas, François, Le Forestier, Nadine, Amador, Maria del Mar, Lacomblez, Lucette, Meininger, Vincent, Bruneteau, Gaelle, Laforêt, Pascal, Blancho, Sophie, Marchand-Pauvert, Véronique, Bede, Peter, Hogrel, Jean-Yves, and Pradat, Pierre-François
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- 2018
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8. Extrapyramidal deficits in ALS: a combined biomechanical and neuroimaging study
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Feron, Maryse, Couillandre, Annabelle, Mseddi, Eya, Termoz, Nicolas, Abidi, Malek, Bardinet, Eric, Delgadillo, Daniel, Lenglet, Timothée, Querin, Giorgia, Welter, Marie-Laure, Le Forestier, Nadine, Salachas, François, Bruneteau, Gaelle, del Mar Amador, Maria, Debs, Rabab, Lacomblez, Lucette, Meininger, Vincent, Pélégrini-Issac, Mélanie, Bede, Peter, Pradat, Pierre-François, and de Marco, Giovanni
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- 2018
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9. Unusual association of amyotrophic lateral sclerosis and myasthenia gravis: A dysregulation of the adaptive immune system?
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del Mar Amador, Maria, Vandenberghe, Nadia, Berhoune, Nawel, Camdessanché, Jean-Philippe, Gronier, Sophie, Delmont, Emilien, Desnuelle, Claude, Cintas, Pascal, Pittion, Sophie, Louis, Sarah, Demeret, Sophie, Lenglet, Timothée, Meininger, Vincent, Salachas, François, Pradat, Pierre-François, and Bruneteau, Gaëlle
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- 2016
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10. NADPH oxidase 4 inhibition is a complementary therapeutic strategy for spinal muscular atrophy.
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El Khoury, Mirella, Biondi, Olivier, Bruneteau, Gaelle, Sapaly, Delphine, Bendris, Sabrina, Bezier, Cynthia, Clerc, Zoé, Akar, Elias Abi, Weill, Laure, Eid, Assaad A., and Charbonnier, Frédéric
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SPINAL muscular atrophy ,NADPH oxidase ,MUSCULAR atrophy ,SPINAL cord ,MOTOR neurons ,H-reflex - Abstract
Introduction: Spinal muscular atrophy (SMA) is a fatal neurodegenerative disorder, characterized by motor neuron (MN) degeneration and severe muscular atrophy and caused by Survival of Motor Neuron (SMN) depletion. Therapies aimed at increasing SMN in patients have proven their efficiency in alleviating SMA symptoms but not for all patients. Thus, combinational therapies are warranted. Here, we investigated the involvement of NADPH oxidase 4 (NOX4) in SMA-induced spinal MN death and if the modulation of Nox4 activity could be beneficial for SMA patients. Methods: We analysed in the spinal cord of severe type SMA-like mice before and at the disease onset, the level of oxidative stress and Nox4 expression. Then, we tested the effect of Nox4 inhibition by GKT137831/Setanaxib, a drug presently in clinical development, by intrathecal injection on MN survival and motor behaviour. Finally, we tested if GKT137831/Setanaxib could act synergistically with FDA-validated SMN-upregulating treatment (nusinersen). Results: We show that NOX4 is overexpressed in SMA and its inhibition by GKT137831/Setanaxib protected spinal MN from SMA-induced degeneration. These improvements were associated with a significant increase in lifespan and motor behaviour of the mice. At the molecular level, GKT137831 activated the prosurvival AKT/CREB signaling pathway, leading to an increase in SMN expression in SMA MNs. Most importantly, we found that the per os administration of GKT137831 acted synergistically with a FDA-validated SMN-upregulating treatment. Conclusion: The pharmacological inhibition of NOX4 by GKT137831/Setanaxib is neuroprotector and could represent a complementary therapeutic strategy to fight against SMA. [ABSTRACT FROM AUTHOR]
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- 2023
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11. Radiation Therapy for Hypersalivation: A Prospective Study in 50 Amyotrophic Lateral Sclerosis Patients
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Assouline, Avi, Levy, Antonin, Abdelnour-Mallet, Maya, Gonzalez-Bermejo, Jesus, Lenglet, Timothée, Le Forestier, Nadine, Salachas, François, Bruneteau, Gaelle, Meininger, Vincent, Delanian, Sylvie, and Pradat, Pierre-François
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- 2014
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12. Development and Evaluation of a Simulation-Based Algorithm to Optimize the Planning of Interim Analyses for Clinical Trials in ALS.
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van Unnik, Jordi W. J., Nikolakopoulos, Stavros, Eijkemans, Marinus J. C., Gonzalez-Bermejo, Jésus, Bruneteau, Gaelle, Morelot-Panzini, Capucine, van den Berg, Leonard H., Cudkowicz, Merit E., McDermott, Christopher J., Similowski, Thomas, and van Eijk, Ruben P. A.
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- 2023
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13. Improving survival in a large French ALS center cohort
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Gordon, Paul H., Salachas, François, Bruneteau, Gaelle, Pradat, Pierre-François, Lacomblez, Lucette, Gonzalez-Bermejo, Jesus, Morelot-Panzini, Capucine, Similowski, Thomas, Elbaz, Alexis, and Meininger, Vincent
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- 2012
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14. Progression in ALS is not linear but is curvilinear
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Gordon, Paul H., Cheng, Bin, Salachas, Francois, Pradat, Pierre-Francois, Bruneteau, Gaelle, Corcia, Philippe, Lacomblez, Lucette, and Meininger, Vincent
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- 2010
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15. Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles.
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Le Gall, Laura, Duddy, William J., Martinat, Cecile, Mariot, Virginie, Connolly, Owen, Milla, Vanessa, Anakor, Ekene, Ouandaogo, Zamalou G., Millecamps, Stephanie, Lainé, Jeanne, Vijayakumar, Udaya Geetha, Knoblach, Susan, Raoul, Cedric, Lucas, Olivier, Loeffler, Jean Philippe, Bede, Peter, Behin, Anthony, Blasco, Helene, Bruneteau, Gaelle, and Del Mar Amador, Maria
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- 2022
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16. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
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Millecamps, Stéphanie, Boillée, Séverine, Le Ber, Isabelle, Seilhean, Danielle, Teyssou, Elisa, Giraudeau, Marine, Moigneu, Carine, Vandenberghe, Nadia, Danel-Brunaud, Véronique, Corcia, Philippe, Pradat, Pierre-François, Le Forestier, Nadine, Lacomblez, Lucette, Bruneteau, Gaelle, Camu, William, Brice, Alexis, Cazeneuve, Cécile, LeGuern, Eric, Meininger, Vincent, and Salachas, François
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- 2012
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17. Extrapyramidal stiffness in patients with amyotrophic lateral sclerosis
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Pradat, Pierre-François, Bruneteau, Gaelle, Munerati, Elisabetta, Salachas, François, Le Forestier, Nadine, Lacomblez, Lucette, Lenglet, Timothee, and Meininger, Vincent
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- 2009
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18. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations
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Millecamps, Stephanie, Salachas, Francois, Cazeneuve, Cecile, Gordon, Paul, Bricka, Bernard, Camuzat, Agnes, Guillot-Noel, Lena, Russaouen, Odile, Bruneteau, Gaelle, Pradat, Pierre-Francois, Le Forestier, Nadine, Vandenberghe, Nadia, Danel-Brunaud, Veronique, Guy, Nathalie, Thauvin-Robinet, Christel, Lacomblez, Lucette, Couratier, Philippe, Hannequin, Didier, Seilhean, Danielle, Le Ber, Isabelle, Corcia, Philippe, Camu, William, Brice, Alexis, Rouleau, Guy, LeGuern, Eric, and Meininger, Vincent
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Amyotrophic lateral sclerosis -- Genetic aspects ,Amyotrophic lateral sclerosis -- Development and progression ,Amyotrophic lateral sclerosis -- Research ,Gene mutations -- Identification and classification ,Gene mutations -- Research ,Health - Published
- 2010
19. Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis
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Millecamps, Stéphanie, Corcia, Philippe, Cazeneuve, Cécile, Boillée, Séverine, Seilhean, Danielle, Danel-Brunaud, Véronique, Vandenberghe, Nadia, Pradat, Pierre-François, Le Forestier, Nadine, Lacomblez, Lucette, Bruneteau, Gaëlle, Camu, William, Brice, Alexis, Meininger, Vincent, LeGuern, Eric, and Salachas, François
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- 2012
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20. Screening of OPTN in French familial amyotrophic lateral sclerosis
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Millecamps, Stéphanie, Boillée, Séverine, Chabrol, Elodie, Camu, William, Cazeneuve, Cécile, Salachas, François, Pradat, Pierre-François, Danel-Brunaud, Véronique, Vandenberghe, Nadia, Corcia, Philippe, Le Forestier, Nadine, Lacomblez, Lucette, Bruneteau, Gaëlle, Seilhean, Danielle, Brice, Alexis, Feingold, Josué, Meininger, Vincent, and LeGuern, Eric
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- 2011
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21. Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients
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Bruneteau, Gaelle, Bauché, Stéphanie, Gonzalez De Aguilar, Jose-Luis, Brochier, Guy, Mandjee, Nathalie, Tanguy, Marie-Laure, Hussain, Ghulam, Behin, Anthony, Khiami, Frédéric, Sariali, El Hadi, Hell-Remy, Caroline, Salachas, François, Pradat, Pierre-François, Lacomblez, Lucette, Nicole, Sophie, Fontaine, Bertrand, Fardeau, Michel, Loeffler, Jean-Philippe, Meininger, Vincent, Fournier, Emmanuel, Koenig, Jeanine, Hantai, Daniel, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Universidad de Córdoba = University of Córdoba [Córdoba], Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Mécanismes Centraux et Périphériques de la Neurodégénérescence, Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire d'Imagerie Biomédicale [Paris] (LIB), 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), Université Pierre et Marie Curie - Paris 6 (UPMC), Sorbonne Université (SU)-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)-Centre National de la Recherche Scientifique (CNRS)-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), and Administateur, HAL Sorbonne Université
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[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology ,nervous system ,[SDV]Life Sciences [q-bio] ,Research Articles ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
International audience; ObjectiveData from mouse models of amyotrophic lateral sclerosis (ALS) suggest early morphological changes in neuromuscular junctions (NMJs), with loss of nerve–muscle contact. Overexpression of the neurite outgrowth inhibitor Nogo-A in muscle may play a role in this loss of endplate innervation.MethodsWe used confocal and electron microscopy to study the structure of the NMJs in muscle samples collected from nine ALS patients (five early-stage patients and four long-term survivors). We correlated the morphological results with clinical and electrophysiological data, and with Nogo-A muscle expression level.ResultsSurface electromyography assessment of neuromuscular transmission was abnormal in 3/9 ALS patients. The postsynaptic apparatus was morphologically altered for almost all NMJs (n = 430) analyzed using confocal microscopy. 19.7% of the NMJs were completely denervated (fragmented synaptic gutters and absence of nerve terminal profile). The terminal axonal arborization was usually sparsely branched and 56.8% of innervated NMJs showed a typical reinnervation pattern. Terminal Schwann cell (TSC) morphology was altered with extensive cytoplasmic processes. A marked intrusion of TSCs in the synaptic cleft was seen in some cases, strikingly reducing the synaptic surface available for neuromuscular transmission. Finally, high-level expression of Nogo-A in muscle was significantly associated with higher extent of NMJ denervation and negative functional outcome.InterpretationOur results support the hypothesis that morphological alterations of NMJs are present from early-stage disease and may significantly contribute to functional motor impairment in ALS patients. Muscle expression of Nogo-A is associated with NMJ denervation and thus constitutes a therapeutic target to slow disease progression.
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- 2015
22. Cursive Eye-Writing With Smooth-Pursuit Eye-Movement Is Possible in Subjects With Amyotrophic Lateral Sclerosis.
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Lenglet, Timothée, Mirault, Jonathan, Veyrat-Masson, Marie, Funkiewiez, Aurélie, Amador, Maria del Mar, Bruneteau, Gaelle, Le Forestier, Nadine, Pradat, Pierre-Francois, Salachas, Francois, Vacher, Yannick, Lacomblez, Lucette, and Lorenceau, Jean
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AMYOTROPHIC lateral sclerosis ,EYE movements ,HANDWRITING ,AUTOGRAPHS ,SELF-expression - Abstract
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder causing a progressive motor weakness of all voluntary muscles, whose progression challenges communication modalities such as handwriting or speech. The current study investigated whether ALS subjects can use Eye-On-Line (EOL), a novel eye-operated communication device allowing, after training, to voluntarily control smooth-pursuit eye-movements (SPEM) so as to eye-write in cursive. To that aim, ALS participants (n = 12) with preserved eye-movements but impaired handwriting were trained during six on-site visits. The primary outcome of the study was the recognition of eye-written digits (0–9) from ALS and healthy control subjects by naïve "readers." Changes in oculomotor performance and the safety of EOL were also evaluated. At the end of the program, 69.4% of the eye-written digits from 11 ALS subjects were recognized by naïve readers, similar to the 67.3% found for eye-written digits from controls participants, with however, large inter-individual differences in both groups of "writers." Training with EOL was associated with a transient fatigue leading one ALS subject to drop out the study at the fifth visit. Otherwise, itching eyes was the most common adverse event (3 subjects). This study shows that, despite the impact of ALS on the motor system, most ALS participants could improve their mastering of eye-movements, so as to produce recognizable eye-written digits, although the eye-traces sometimes needed smoothing to ease digit legibility from both ALS subjects and control participants. The capability to endogenously and voluntarily generate eye-traces using EOL brings a novel way to communicate for disabled individuals, allowing creative personal and emotional expression. [ABSTRACT FROM AUTHOR]
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- 2019
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23. Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA.
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El Mendili, Mohamed-Mounir, Lenglet, Timothée, Stojkovic, Tanya, Behin, Anthony, Guimarães-Costa, Raquel, Salachas, François, Meininger, Vincent, Bruneteau, Gaelle, Le Forestier, Nadine, Laforêt, Pascal, Lehéricy, Stéphane, Benali, Habib, and Pradat, Pierre-François
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MOVEMENT disorders ,SPINAL muscular atrophy ,MUSCLE weakness ,SPINAL cord ,SKELETAL muscle ,MAGNETIC resonance imaging ,DISEASES - Abstract
Purpose: The mechanisms underlying the topography of motor deficits in spinal muscular atrophy (SMA) remain unknown. We investigated the profile of spinal cord atrophy (SCA) in SMN1-linked SMA, and its correlation with the topography of muscle weakness. Materials and Methods: Eighteen SMN1-linked SMA patients type III/V and 18 age/gender-matched healthy volunteers were included. Patients were scored on manual muscle testing and functional scales. Spinal cord was imaged using 3T MRI system. Radial distance (RD) and cord cross-sectional area (CSA) measurements in SMA patients were compared to those in controls and correlated with strength and disability scores. Results: CSA measurements revealed a significant cord atrophy gradient mainly located between C3 and C6 vertebral levels with a SCA rate ranging from 5.4% to 23% in SMA patients compared to controls. RD was significantly lower in SMA patients compared to controls in the anterior-posterior direction with a maximum along C4 and C5 vertebral levels (p-values < 10
−5 ). There were no correlations between atrophy measurements, strength and disability scores. Conclusions: Spinal cord atrophy in adult SMN1-linked SMA predominates in the segments innervating the proximal muscles. Additional factors such as neuromuscular junction or intrinsic skeletal muscle defects may play a role in more complex mechanisms underlying weakness in these patients. [ABSTRACT FROM AUTHOR]- Published
- 2016
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24. Validation of robust tools to measure sialorrhea in amyotrophic lateral sclerosis: A study in a large French cohort.
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Abdelnour-Mallet, Maya, Tezenas Du Montcel, Sophie, Cazzolli, Pamela A., Assouline, Avi, Pointon, Christine, Leveque, Nathalie, Dominique, Henri, Elmazria, Hassan, Rothmayer, Michaela, Lenglet, Timothee, Bruneteau, Gaelle, le Forestier, Nadine, Delanian, Sylvie, Gonzalez-Bermejo, Jesus, Salachas, François, Brooks, Benjamin Rix, and Pradat, Pierre François
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DROOLING ,AMYOTROPHIC lateral sclerosis ,NEUROLOGISTS ,COMPARATIVE studies ,SALIVATION ,COHORT analysis - Abstract
There is an unmet need for validated tools to measure sialorrhea in amyotrophic lateral sclerosis, especially to evaluate treatments. We assessed the inter-/intra-rate reviewer reliability of two scales: the Oral Secretion Scale (OSS), specifically developed for ALS patients, and the Sialorrhea Scoring Scale (SSS), initially developed for Parkinson's disease patients. Sialorrhea was rated in 69 ALS consecutive patients by four evaluators: two neurologists, one nurse and one speech therapist. Inter-rater reliability was evaluated by the light kappa coefficient and intra-rater reliability by the weighted kappa coefficient. We also compared patients' and caregivers' answers. Results demonstrated that the two scales present a high inter-/intra-rater reliability: weighted kappas were 0.85 for both scales and light kappas 0.89 for the OSS and 0.88 for the SSS. Both scales also showed a good intra-profession reliability (OSS kappa = 0.84; SSS kappa = 0.79) and agreement between patients' and caregivers' answers. The SSS showed a higher responsiveness compared to OSS. In conclusion, both Oral Secretion Scale and Sialorrhea Scoring Scale are reliable tools to measure sialorrhea in ALS patients. Because of the wide range of salivation degrees, SSS may be more sensitive as a tool to evaluate treatments in patients with severe hypersialorrhea. [ABSTRACT FROM AUTHOR]
- Published
- 2013
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25. Predicting Survival of Patients with Amyotrophic Lateral Sclerosis at Presentation: A 15-Year Experience.
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Gordon, Paul H., Salachas, François, Lacomblez, Lucette, Le Forestier, Nadine, Pradat, Pierre-François, Bruneteau, Gaelle, Elbaz, alexis, and Meininger, Vincent
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AMYOTROPHIC lateral sclerosis ,MUSCLE strength ,NEUROMUSCULAR diseases ,MOTOR neuron diseases ,EPILEPSY ,NEUROLOGY - Abstract
Objective: To describe the clinical features at first evaluation that best predict survival of the amyotrophic lateral sclerosis (ALS) population from the Salpêtrière Hospital between 1995 and 2009. Methods: Data are collected and entered into a clinical database from all patients seen at the Paris ALS Center. Variables analyzed were demographic and baseline information, strength testing (manual muscle testing; 1995-2009), the revised ALS Functional Rating Scale (ALSFRS-R; 2002-2009) and survival status. The χ
2 test and ANOVA assessed differences in variables by region and across time period. Univariate and multivariate Cox proportional hazards models determined which variables best predicted survival. Flexible modeling of continuous predictors (splines) assessed trends in survival for different variables. Results: 3,885 patients with ALS were seen in 1995-2009, of whom 2,037 had ALSFRS-R scores. Age, weight, strength, and site of onset varied by region of residence. The proportion of patients living outside Paris, the time to first visit, patient age, and motor function differed across time periods. In Cox models, site of onset, time to first visit greater than 18 months, strength and the year of visit after 2006 predicted survival (all p values <0.0001). Compared to patients first seen between 1999 and 2002, the hazard ratio of death was 1.04 (95% CI = 0.95-1.14) for 2003-2006, and 0.76 (95% CI = 0.66-0.87) after 2006, while adjusting for other predictors of survival. The use of noninvasive ventilation increased during 2004-2008 from 16 to 51% of patients. Conclusions: Older age, bulbar onset, shorter delay to first visit and poor motor function at first visit predicted shorter survival rates in this large center-based sample from France, showing marked consistency across time and region of residence. Survival improved after 2006, concurrent with increasing rates of noninvasive ventilation use. Clinicopathologic correlation could better define subgroups, but identification of etiologies may be needed to elucidate individual forms of ALS with unique survival patterns. Copyright © 2012 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]- Published
- 2013
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26. The range and clinical impact of cognitive impairment in French patients with ALS: A cross-sectional study of neuropsychological test performance.
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Gordon, Paul H., Delgadillo, Daniel, Piquard, Ambre, Bruneteau, Gaelle, Pradat, Pierre-François, Salachas, François, Payan, Christine, Meininger, Vincent, and Lacomblez, Lucette
- Subjects
FRONTOTEMPORAL dementia ,NEURODEGENERATION ,DEMENTIA ,AMYOTROPHIC lateral sclerosis ,ANALYSIS of variance ,NEUROPSYCHOLOGICAL tests - Abstract
Our objective was to assess the spectrum and clinical associations of cognitive impairment in French patients with ALS, and determine the effect of cognitive impairment on survival in this population. One hundred and thirty-one patients were enrolled in a cross-sectional cohort study of neuropsychological test performance. ANOVA and χ
2 tests assessed differences in clinical characteristics between impaired and unimpaired patients; multiple regression determined which features contributed most strongly to cognitive status, and Cox models compared survival. Fifty-three patients (40%) were categorized as cognitively impaired based on test performance. Thirteen (10%) patients had frontotemporal dementia (FTD) clinically; all scored in the moderate to severely impaired range on testing. Impaired patients had less education ( p == 0.001), and severely impaired patients were more likely to have bulbar onset than unimpaired patients ( p < 0.001). Severe cognitive impairment predicted shorter survival ( p == 0.007), even when controlled for motor severity ( p == 0.001). In summary, 10% of a consecutive series of French ALS patients had overt dementia and 40% were cognitively impaired by neuropsychological testing. We conclude that lower education level and possibly bulbar-onset ALS were associated with impairment. As in other causes of dementia, higher education attainment may protect against clinical cognitive deterioration in ALS. French patients with severe cognitive impairment have shorter survival time. [ABSTRACT FROM AUTHOR]- Published
- 2011
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27. Abnormalities of satellite cells function in amyotrophic lateral sclerosis.
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Pradat, Pierre-François, Barani, Aude, Wanschitz, Julia, Dubourg, Odile, Lombès, Anne, Bigot, Anne, Mouly, Vincent, Bruneteau, Gaelle, Salachas, François, Lenglet, Timothée, Meininger, Vincent, and Butler-Browne, Gillian
- Subjects
AMYOTROPHIC lateral sclerosis ,SATELLITE cells ,CELL physiology ,MUSCLE regeneration ,IMMUNOHISTOCHEMISTRY - Abstract
Amyotrophic lateral sclerosis (ALS) is characterized by progressive denervation leading to muscle atrophy prevented, during the early phase, by compensatory reinnervation. Little is known about muscle fibre regeneration capacity in ALS. We have carried out in vivo and in vitro investigation of skeletal muscle in ALS. Seven ALS patients underwent a deltoid muscle biopsy. Immunohistochemical analysis revealed various degrees of denervation- and reinnervation-related changes in the ALS muscle biopsies including satellite cells (SCs) activation and regenerating fibres. Only 3/7 primary cultures of ALS muscle cells were successfully established and had sufficient myogenicity, as assessed by desmin positivity, to be used without further purification. This was in contrast with the cultures derived from control muscles, predominantly desmin-positive cells. Although capable to proliferate in vitro, ALS-derived SCs presented an abnormal senescent-like morphology. Markers of senescence, including senescent-associated (SA)-ββGal activity and p16 expression, were increased. Furthermore, ALS-derived SCs were also unable to fully differentiate in vitro as shown by abnormal myotubes morphology and reduced MHC isoform expression, compared to control myotubes. Our study suggests that SC function is altered in ALS. This could limit the efficacy of compensatory processes and therefore could contribute to the progression of muscle atrophy and weakness. [ABSTRACT FROM AUTHOR]
- Published
- 2011
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28. Safety of home parenteral nutrition in patients with amyotrophic lateral sclerosis: A French national survey.
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Abdelnour-Mallet, Maya, Verschueren, Annie, Guy, Nathalie, Soriani, Marie-Hélène, Chalbi, Myriam, Gordon, Paul, Salachas, François, Bruneteau, Gaelle, le Forestier, Nadine, Lenglet, Timothée, Desnuelle, Claude, Clavelou, Pierre, Pouget, Jean, Meininger, Vincent, and Pradat, Pierre-François
- Subjects
PARENTERAL feeding ,AMYOTROPHIC lateral sclerosis ,SURVEYS ,HOME care services ,CENTRAL venous catheters ,CONFIDENCE intervals ,PATIENTS - Abstract
We carried out a retrospective multicentre study to assess the safety of home parenteral nutrition (HPN) in patients with ALS. We reviewed the case records of patients from French ALS centres treated with HPN by central venous catheter (CVC) using an implantable port between January 2005 and October 2009. Seventy-three patients received HPN for a total of 11,908 catheter days. Twenty-seven patients experienced a total of 37 CVC related complications resulting in an incidence rate of 3.11 CVC complications/1000 catheter days, including 1.93 septic complications and 1.09 mechanical complications/1000 catheter days. Metabolic complications were frequent but without serious consequences on mortality. The use of the catheter for intravenous therapies in addition to HPN was identified as a septicaemia's risk factor (relative risk (RR) == 2.54, confidence interval (CI) 1.56--4.14, p == 0.04). In conclusion, HPN is an alternative procedure to PEG in advanced ALS patients. The incidence of complications appears to be comparable to data from the literature on HPN in other diseases. A prospective study comparing HPN and radiologic inserted gastrostomy (RIG) would allow comparison of the relative risk-benefit and survival of these procedures. The relation of CVC and RIG placement timing and the complications'' occurrence should also be investigated. [ABSTRACT FROM AUTHOR]
- Published
- 2011
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29. Impaired glucose tolerance in patients with amyotrophic lateral sclerosis.
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Pradat, Pierre-Francois, Bruneteau, Gaelle, Gordon, Paul H., Dupuis, Luc, Bonnefont-Rousselot, Dominique, Simon, Dominique, Salachas, Francois, Corcia, Philippe, Frochot, Vincent, Lacorte, Jean-Marc, Jardel, Claude, Coussieu, Christiane, Le Forestier, Nadine, Lacomblez, Lucette, Loeffler, Jean-Philippe, and Meininger, Vincent
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- *
CARBOHYDRATE metabolism , *AMYOTROPHIC lateral sclerosis , *GLUCOSE tolerance tests , *GLUCOSE intolerance , *BLOOD sugar , *LEPTIN , *HOMEOSTASIS , *PATIENTS - Abstract
Our objectives were to analyse carbohydrate metabolism in a series of ALS patients and to examine potential association with parameters of lipid metabolism and clinical features. Glucose tolerance was assessed by the oral glucose tolerance test in 21 non-diabetic ALS patients and compared with 21 age- and sex-matched normal subjects. Lipids and lactate/pyruvate ratio, levels of pro-inflammatory cytokines (tumour necrosis factor-alpha and interleukin-6) and adipocytokines (leptin and adiponectin) were also measured in ALS patients. Mann-Whitney U-tests analysed continuous data and Fisher's exact tests assessed categorical data. Blood glucose determined 120 min after the glucose bolus was significantly higher in patients with ALS (7.41 mmol/l±1.68) compared to controls (6.05±1.44, p=0.006). ALS patients with impaired glucose tolerance (IGT) according to WHO criteria ( n=7, 33%) were more likely to have elevated free fatty acids (FFA) levels compared to patients with normal glucose tolerance (0.77 nmol/l±0.30 vs. 0.57±0.19, p=0.04). IGT was not associated with disease duration or severity. In conclusion, patients with ALS show abnormal glucose tolerance that could be associated with increased FFA levels, a key determinant of insulin resistance. The origin of glucose homeostasis abnormalities in ALS may be multifactorial and deserves further investigation. [ABSTRACT FROM AUTHOR]
- Published
- 2010
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30. Muscle Nogo-a expression is a prognostic marker in lower motor neuron syndromes.
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Pradat, Pierre-François, Bruneteau, Gaelle, Gonzalez de Aguilar, Jose-Luis, Dupuis, Luc, Jokic, Natasa, Salachas, François, Le Forestier, Nadine, Echaniz-Laguna, Andoni, Dubourg, Odile, Hauw, Jean-Jacques, Tranchant, Christine, Loeffler, Jean-Philippe, and Meininger, Vincent
- Abstract
Objective A proportion of patients with pure lower motor neuron syndrome (LMNS) progress to amyotrophic lateral sclerosis (ALS). Early detection of this progression is impossible, which delays the patient's access to treatment. Muscle expression of Nogo-A is a new candidate marker of ALS. We tested whether detection of Nogo-A in a muscle biopsy from patients with LMNS predicts progression to ALS. Methods Thirty-three patients who had undergone a muscle biopsy during the diagnostic workup of spinal LMNS were observed for 12 months. Nogo-A expression was measured by Western blot in muscle biopsy samples and compared with the final diagnosis. Results Nogo-A expression was detected in 17 patients and was absent in 16 patients. The detection of Nogo-A in muscle biopsy samples from LMNS patients correctly identified patients who further progressed to ALS with 91% accuracy, 94% sensitivity, and 88% specificity. In patients who later developed typical ALS, Nogo-A may be detected as early as 3 months after the onset of symptoms. Interpretation Nogo-A test is able to identify ALS early in the course of the disease when diagnosis is difficult, requiring further progression. Use of the test in clinical practice may shorten the delay before introduction of neuroprotective drugs or inclusion in clinical trials. Ann Neurol 2007 [ABSTRACT FROM AUTHOR]
- Published
- 2007
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31. Cat Bite: An Unusual Cause of Foot Drop
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Amador, Maria del Mar, Bruneteau, Gaëlle, and Degos, Bertrand
- Published
- 2016
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32. Correction: Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA.
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El Mendili, Mohamed-Mounir, Lenglet, Timothée, Stojkovic, Tanya, Behin, Anthony, Guimarães-Costa, Raquel, Salachas, François, Meininger, Vincent, Bruneteau, Gaelle, Le Forestier, Nadine, Laforêt, Pascal, Lehéricy, Stéphane, Benali, Habib, and Pradat, Pierre-François
- Subjects
SPINAL cord diseases ,ATROPHY ,DISEASES in adults - Published
- 2016
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33. Reply.
- Author
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Pradat, Pierre-François, Gonzalez de Aguilar, Jose-Luis, Bruneteau, Gaelle, Dupuis, Luc, Echaniz-Laguna, Andoni, Loeffler, Jean-Philippe, and Meininger, Vincent
- Published
- 2007
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34. C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice.
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Lopez-Herdoiza MB, Bauché S, Wilmet B, Le Duigou C, Roussel D, Frah M, Béal J, Devely G, Boluda S, Frick P, Bouteiller D, Dussaud S, Guillabert P, Dalle C, Dumont M, Camuzat A, Saracino D, Barbier M, Bruneteau G, Ravassard P, Neumann M, Nicole S, Le Ber I, Brice A, and Latouche M
- Abstract
The GGGGCC intronic repeat expansion within C9ORF72 is the most common genetic cause of ALS and FTD. This mutation results in toxic gain of function through accumulation of expanded RNA foci and aggregation of abnormally translated dipeptide repeat proteins, as well as loss of function due to impaired transcription of C9ORF72 . A number of in vivo and in vitro models of gain and loss of function effects have suggested that both mechanisms synergize to cause the disease. However, the contribution of the loss of function mechanism remains poorly understood. We have generated C9ORF72 knockdown mice to mimic C9-FTD/ALS patients haploinsufficiency and investigate the role of this loss of function in the pathogenesis. We found that decreasing C9ORF72 leads to anomalies of the autophagy/lysosomal pathway, cytoplasmic accumulation of TDP-43 and decreased synaptic density in the cortex. Knockdown mice also developed FTD-like behavioral deficits and mild motor phenotypes at a later stage. These findings show that C9ORF72 partial loss of function contributes to the damaging events leading to C9-FTD/ALS., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Lopez-Herdoiza, Bauché, Wilmet, Le Duigou, Roussel, Frah, Béal, Devely, Boluda, Frick, Bouteiller, Dussaud, Guillabert, Dalle, Dumont, Camuzat, Saracino, Barbier, Bruneteau, Ravassard, Neumann, Nicole, Le Ber, Brice and Latouche.)
- Published
- 2023
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