Author: "Marion Masingue" - Searchworks@Jio Institute Digital Library Search Results

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1. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Author: Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, and Gianina Ravenscroft
Subjects: Science
Abstract: Abstract Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG • CCG repeat expansion in four different genes were identified in OPDM individuals in Asian populations. None of these have been found in affected individuals of non-Asian ancestry. In this study we describe the identification of CCG expansions in ABCD3, ranging from 118 to 694 repeats, in 35 affected individuals across eight unrelated OPDM families of European ancestry. ABCD3 transcript appears upregulated in fibroblasts and skeletal muscle from OPDM individuals, suggesting a potential role of over-expression of CCG repeat containing ABCD3 transcript in progressive skeletal muscle degeneration. The study provides further evidence of the role of non-coding repeat expansions in unsolved neuromuscular diseases and strengthens the association between the CGG • CCG repeat motif and a specific pattern of muscle weakness.
Published: 2024
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2. Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

Author: Emmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, Céline Tard, Jean-Baptiste Noury, Anthony Behin, Elisa De La Cruz, François Boyer, Claire Lefeuvre, Marion Masingue, Louise Debergé, Armelle Finet, Mélanie Brison, Marco Spinazzi, Antoine Pegat, Sabrina Sacconi, Edoardo Malfatti, Ariane Choumert, Rémi Bellance, Anne-Laure Bedat-Millet, Léonard Feasson, Carole Vuillerot, Agnès Jacquin-Piques, Maud Michaud, Yann Pereon, Tanya Stojkovic, Pascal Laforêt, Shahram Attarian, and Pascal Cintas
Subjects: Spinal muscular atrophy, SMA, Multidisciplinary team meeting, Clinical decision-making, Treatment, Medicine
Abstract: Abstract Background In 2017, a new treatment by nusinersen, an antisense oligonucleotide delivered by repeated intrathecal injections, became available for patients with spinal muscular atrophy (SMA), whereas clinical trials had mainly involved children. Since 2020, the oral, selective SMN2-splicing modifier risdiplam has been available with restrictions evolving with time. In this peculiar context of lack of data regarding adult patients, many questions were raised to define the indications of treatment and the appropriate follow-up in this population. To homogenize access to treatment in France, a national multidisciplinary team meeting dedicated to adult SMA patients, named SMA multidisciplinary team meeting, (SMDTs) was created in 2018. Our objective was to analyze the value of SMDTs in the decision-making process in SMA adult patients and to provide guidelines about treatment. Methods From October 2020 to September 2021, data extracted from the SMDT reports were collected. The primary outcome was the percentage of cases in which recommendations on validating treatment plans were given. The secondary outcomes were type of treatment requested, description of expectations regarding treatment and description of recommendations or follow-up and discontinuation. Data were analyzed using descriptive statistics. Comparisons between the type of treatment requested were performed using Mann–Whitney test or the Student t test for quantitative data and the Fisher’s exact test or the χ2 test for qualitative data. Results Cases of 107 patients were discussed at the SMDTs with a mean age of 35.3 (16–62). Forty-seven were SMA type 2, and 57 SMA type 3. Twelve cases were presented twice. Out of 122 presentations to the SMDTs, most of requests related to the initiation of a treatment (nusinersen (n = 46), risdiplam (n = 54), treatment without mentioning preferred choice (n = 5)) or a switch of treatment (n = 12). Risdiplam requests concerned significantly older patients (p = 0.002), mostly SMA type 2 (p
Published: 2024
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3. Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Author: Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, and Gianina Ravenscroft
Subjects: Science
Published: 2024
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4. New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome

Author: Marion Masingue, Olivia Cattaneo, Nicolas Wolff, Céline Buon, Damien Sternberg, Morgane Euchparmakian, Myriam Boex, Anthony Behin, Kamel Mamchaouhi, Thierry Maisonobe, Marie-Christine Nougues, Arnaud Isapof, Bertrand Fontaine, Julien Messéant, Bruno Eymard, Laure Strochlic, and Stéphanie Bauché
Subjects: Medicine, Science
Abstract: Abstract Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of rare diseases due to mutations in neuromuscular junction (NMJ) protein-coding genes. Until now, many mutations encoding postsynaptic proteins as Agrin, MuSK and LRP4 have been identified as responsible for increasingly complex CMS phenotypes. The majority of mutations identified in LRP4 gene causes bone diseases including CLS and sclerosteosis-2 and rare cases of CMS with mutations in LRP4 gene has been described so far. In the French cohort of CMS patients, we identified a novel LRP4 homozygous missense mutation (c.1820A > G; p.Thy607Cys) within the β1 propeller domain in a patient presenting CMS symptoms, including muscle weakness, fluctuating fatigability and a decrement in compound muscle action potential in spinal accessory nerves, associated with congenital agenesis of the hands and feet and renal malformation. Mechanistic expression studies show a significant decrease of AChR aggregation in cultured patient myotubes, as well as altered in vitro binding of agrin and Wnt11 ligands to the mutated β1 propeller domain of LRP4 explaining the dual phenotype characterized clinically and electoneuromyographically in the patient. These results expand the LRP4 mutations spectrum associated with a previously undescribed clinical association involving impaired neuromuscular transmission and limb deformities and highlighting the critical role of a yet poorly described domain of LRP4 at the NMJ. This study raises the question of the frequency of this rare neuromuscular form and the future diagnosis and management of these cases.
Published: 2023
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5. SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

Author: Jean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Gueguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, Éric Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne-Françoise Roux, Benjamin Cogné, and David Baux
Subjects: Medicine, Genetics, QH426-470
Abstract: Abstract SpliceAI is an open-source deep learning splicing prediction algorithm that has demonstrated in the past few years its high ability to predict splicing defects caused by DNA variations. However, its outputs present several drawbacks: (1) although the numerical values are very convenient for batch filtering, their precise interpretation can be difficult, (2) the outputs are delta scores which can sometimes mask a severe consequence, and (3) complex delins are most often not handled. We present here SpliceAI-visual, a free online tool based on the SpliceAI algorithm, and show how it complements the traditional SpliceAI analysis. First, SpliceAI-visual manipulates raw scores and not delta scores, as the latter can be misleading in certain circumstances. Second, the outcome of SpliceAI-visual is user-friendly thanks to the graphical presentation. Third, SpliceAI-visual is currently one of the only SpliceAI-derived implementations able to annotate complex variants (e.g., complex delins). We report here the benefits of using SpliceAI-visual and demonstrate its relevance in the assessment/modulation of the PVS1 classification criteria. We also show how SpliceAI-visual can elucidate several complex splicing defects taken from the literature but also from unpublished cases. SpliceAI-visual is available as a Google Colab notebook and has also been fully integrated in a free online variant interpretation tool, MobiDetails ( https://mobidetails.iurc.montp.inserm.fr/MD ). Graphical abstract
Published: 2023
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6. A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

Author: Lucie Isoline Pisella, Sara Fernandes, Guilhem Solé, Tanya Stojkovic, Céline Tard, Jean-Baptiste Chanson, Françoise Bouhour, Emmanuelle Salort-Campana, Guillemette Beaudonnet, Louise Debergé, Fanny Duval, Aude-Marie Grapperon, Marion Masingue, Aleksandra Nadaj-Pakleza, Yann Péréon, Frédérique Audic, Anthony Behin, Diane Friedman, Armelle Magot, Jean-Baptiste Noury, Sarah Souvannanorath, Karim Wahbi, Jean-Christophe Antoine, Kévin Bigaut, Jean-Philippe Camdessanché, Pascal Cintas, Rabab Debs, Caroline Espil-Taris, Laurent Kremer, Thierry Kuntzer, Pascal Laforêt, Vincent Laugel, Martial Mallaret, Maud Michaud, Sylvain Nollet, Juliette Svahn, Savine Vicart, Rocio Nur Villar-Quiles, Isabelle Desguerre, David Adams, Sandrine Segovia-Kueny, Géraldine Merret, Elhadi Hammouda, Annamaria Molon, and Shahram Attarian
Subjects: Neuromuscular diseases, COVID-19, Risk factor, Prognosis, Medicine
Abstract: Abstract Background Due to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications with COVID-19. The objective of this study was to analyze the prevalence of COVID-19 among NMD patients and the risk factors for its impact and severity during the first wave of the pandemic. Clinical data were collected from NMD-COVID-19 patients, between March 25, 2020 and May 11, 2020 in an anonymous survey carried out by expert physicians from the French Health Care Network Filnemus. Results Physicians reported 84 patients, including: 34 with myasthenia gravis, 27 with myopathy and 23 with neuropathy. COVID-19 had no effect on NMD for 48 (58%) patients and 48 (58%) patients developed low COVID-19 severity. COVID-19 caused the death of 9 (11%) NMD patients. Diabetic patients were at greater risk of dying. Patients with diabetes, hypertension or severe forms of NMD had a higher risk of developing a moderate or severe form of COVID-19. In our cohort, corticosteroids and other immunosuppressants were not significantly associated with higher COVID-19 severity for acquired NMD. Conclusion During this period, a small percentage of French NMD patients was affected by COVID-19 compared to the general French population and COVID-19 had a limited short-term effect on them. Diabetes, hypertension and a severe degree of NMD were identified as risk factors of unfavorable outcome following COVID-19. Conversely, in our cohort of patients with acquired NMD, corticosteroids or other immunosuppressants did not appear to be risk factors for more severe COVID-19.
Published: 2021
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7. Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes

Author: Ana Gales, Marion Masingue, Stephanie Millecamps, Stephane Giraudier, Laure Grosliere, Claude Adam, Claudio Salim, Vincent Navarro, and Yann Nadjar
Subjects: Metabolic disease, Clinical neurology examination, All epilepsy/seizures, Gait disorders/ataxia, MRI, Medicine
Abstract: Abstract 5,10-Methylene-tetrahydrofolate reductase (MTHFR) deficiency is a genetic disorder that can occur at any age and can be easily detected by increased homocysteinemia. In adolescence/adult onset forms, the clinical picture is often complex with association of various neurological features and thrombosis. Here we report the cases of two adult siblings who experienced focal epilepsy at 18 years old as a first disease manifestation, without other symptom during several years. Upon diagnosis, both patients received metabolic treatment comprising B9, B12 and betaine which has stopped the occurrence of seizures, allowing discontinuation of anti-epileptic drugs. Among 24 reviewed adolescent/adult onset patients with MTHFR deficiency in the literature, clinical manifestations included gait disorder (96%, from motor central or peripheral origin), cognitive decline (74%), epileptic syndromes (50%), encephalopathy (30%), psychotic symptoms (17%), and thrombotic events (21%). A total of 41% presented a single neurological manifestation that could stay isolated during at least 3 years, delaying achievement of the diagnosis. Brain MRI showed a mostly periventricular white matter changes in 71% of cases. All patients stabilized or improved following metabolic treatment. Despite being rare, adolescence/adult onset MTHFR deficiency can nevertheless be successfully treated. Therefore, homocysteinemia should be tested in various unexplained neuro-psychiatric syndromes like epilepsy or spastic paraparesis, even if isolated, since waiting for completion of the clinical picture is likely to increase the risk of irreversible neurological damage.
Published: 2018
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8. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study

Author: Vera Bril, Artur Drużdż, Julian Grosskreutz, Ali A Habib, Renato Mantegazza, Sabrina Sacconi, Kimiaki Utsugisawa, John Vissing, Tuan Vu, Marion Boehnlein, Ali Bozorg, Maryam Gayfieva, Bernhard Greve, Franz Woltering, Henry J Kaminski, Angela Genge, Rami Massie, Maxime Berube, Lubna Daniyal, Shabber Mannan, Eduardo Ng, Ritesh Rohan Raghu Raman, Evelyn Sarpong, Monica Alcantara, Annie Dionne, Zaeem Siddiqi, Derrick Blackmore, Faraz Hussain, Genevieve Matte, Stephan Botez, Michaela Tyblova, Michala Jakubikova, Jana Junkerova, Nanna Witting, Sonja Holm-Yildiz, Mads Stemmerik, Henning Andersen, Izabella Obál, Guilhem Solé, Stéphane Mathis, Marie-Hélène Violleau, Christine Tranchant, Sihame Messai, Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Arnaud Verloes, Leila Zaidi, Manuela Gambella, Michele Cavalli, Tanya Stojkovic, Sophie Demeret, Loic Le Guennec, Giorgia Querin, Nicolas Weiss, Marion Masingue, Laurent Magy, Karima Ghorab, Ia Rukhadze, Alexander Tsiskaridze, Marina Janelidze, Temur Margania, Florian Then Bergh, Eike Hänsel, Andrea Kalb, Bianca Meilick, Mandy Reuschel, Lars-Malte Teußer, Astrid Unterlauft, Clemens Goedel, Tim Hagenacker, Andreas Totzeck, Benjamin Stolte, Franz Blaes, Christine Bindler, Vasilios Tsoutsikas, Annekathrin Roediger, Christian Geis, Jens Schmidt, Jana Zschüntzsch, Margret Schwarz, Stefanie Meyer, Karsten Kummer, Stefanie Glaubitz, Rachel Zeng, Heinz Wiendl, Luisa Klotz, Anna Lammerskitten, Jan Lünemann, Péter Diószeghy, Lorenzo Maggi, Elena Rinaldi, Matteo Gastaldi, Federico Mazzacane, Pietro Businaro, Raffaele Iorio, Giovanni Antonini, Laura Fionda, Rita Rinaldi, Simone Rossi, Francesco Habetswallner, Francesco Tuccillo, Haruna Umehara, Eiko Uenaka, Masanori Takahashi, Keiko Higashi, Makoto Kinoshita, Emika Yoneda, Noriko Nakamura, Saeka Fujita, Tomoya Kubota, Masami Ono, Sana Yamamoto, Taku Hatano, Kazuki Oikoshi, Kazumasa Yokoyama, Yutaka Oji, Yuji Tomizawa, Akiyuki Uzawa, Manato Yasuda, Sachiko Akita, Yukiko Ozawa, Yosuke Onishi, Miki Takaki, Hiromi Yamada, Kanako Minemoto, Miki Sanko, Nanae Izawa, Mayumi Nakayama, Masayuki Masuda, Rune Tsuji, Nobuhiro Ido, Yumi Hyodo, Yoshihiko Okubo, Akiko Minohara, Nana Haraguchi, Makiko Naito, Seiko Yoshida, Yuri Fukushige, Akira Tsujino, Atsushi Nagaoka, Teiichiro Miyazaki, Shunsuke Yoshimura, Takuro Hirayama, Tomoaki Shima, Naoko Okamoto, Riki Matsumoto, Kenji Sekiguchi, Takehiro Ueda, Norio Chihara, Mari Kirimura, Emi Sunagawa, Ayaka Suzuki, Shigeaki Suzuki, Aozora Wada, Kei Ishizuchi, Yasushi Suzuki, Mitsuo Yata, Yuka Komatsu, Kenichi Tsukita, Genya Watanabe, Kazuki Sato, Emiko Kawasaki, Naoki Yamamoto, Hirohiko Ono, Tomoko Tsuda, Shigeki Ohashi, Yuka Fujisawa, Yumiko Yokota, Yuriko Nagane, Kameda Ayumi, Yuka Takematsu, Hiroyuki Naito, Kumiko Kuwada, Konrad Rejdak, Sebastian Szklener, Monika Kitowska, Kandyda Derkacz, Tomasz Berkowicz, Paulina Budzinska, Marek Halas, Leonid Zaslavskiy, Evgeniya Skornyakova, Sergey Kotov, Ekaterina Novikova, Olga Sidorova, Vitalii Goldobin, Tatiana Alekseeva, Patimat Isabekova, Nadezhda Malkova, Denis Korobko, Gordana Djordjevic, Aleksandar Stojanov, Stojan Peric, Dragana Lavrnic, Ivo Bozovic, Aleksa Palibrk, Carlos Casasnovas, Velina Nedkova-Hristova, Nuria Vidal Fernández, Elena Cortés Vicente, Luis Querol Gutiérrez, Maria Salvadó Figueras, Anna Canovas Segura, Raúl Juntas Morales, Daniel Sanchez Tejerina, Albert Saiz, Yolanda Blanco Morgado, Sara Llufriú Durán, María Sepúlveda Gázquez, Eugenia María Martínez Hernández, Gerardo Gutiérrez Gutiérrez, Paqui Iniesta, José Meca Lallana, Yuh-Cherng Guo, Hou-Chang Chiu, Jiann-Horng Yeh, Ya Hui Chen, Mei Fen Lee, Yi-Chung Lee, Kuan Lin Lai, Said Beydoun, Salma Akhter, Lucy Lam, Alisha Thomas, Michael Rivner, Brandy Quarles, Dale Lange, Shara Holzberg, Pantelis Pavlakis, Ashwathy Goutham, Henry Kaminski, Radwa Aly, Lisa Ashworth, Kathryn Bender, Karie Bond, Joanne Buckner, Sara Byerly, James Caress, Jessyca Clemons, Asha Farmer, Catherine Franklin, Summer Harris, Meredith Hiatt, Rachana Gandhi Mehta, Gina Miller, Lynn Smith, Rose Smith, Brian Strittmatter, Tahseen Mozaffar, Isela Hernandez, Kelsey Moulton, Chafic Karam, Pranali Ravikumar, Catherine Lomen-Hoerth, Laura Rosow, Hannah George, Viktoriya Irodenko, Carol Denny, Bart Hanson, Sara Klein, Jennifer Martinez-Thompson, Elie Naddaf, Denny Padgett, Eric Sorenson, Jane L Sultze, Delena Weis, Kourosh Rezania, Jason Thonhoff, Sheetal Shroff, Robert Pascuzzi, Angela Micheels, Cynthia Bodkin, Adam Comer, Gelasio Baras, Renee Wagner, Zabeen Mahuwala, Stephen Ryan, Kai Su, Khema Sharma, Andrew Brown, and Kore Liow
Subjects: Neurology (clinical)
Published: 2023
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9. Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes

Author: Tanya Stojkovic, Marion Masingue, Helène Turmel, Marianne Hezode-Arzel, Anthony Béhin, Sarah Leonard-Louis, Guillaume Bassez, Stéphanie Bauché, Patricia Blondy, Pascale Richard, Damien Sternberg, Bruno Eymard, Emmanuel Fournier, and Rocío Nur Villar-Quiles
Subjects: Myasthenic Syndromes, Congenital, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, Neuromuscular Junction, Humans, Receptors, Cholinergic, Neurology (clinical), Genetics (clinical)
Abstract: Congenital myasthenic syndromes (CMS) are a group of heterogeneous diseases of the neuromuscular junction. We report electrodiagnostic testing (EDX) and genetic findings in a series of 120 CMS patients tested with a simple non-invasive EDX workup with surface recording of CMAPs and 3Hz repetitive nerve stimulation of accessory, radial and deep fibular nerves. Five ENMG phenotypes were retrieved based on the presence or not of R-CMAPs and the distribution pattern of decremental CMAP responses which significantly correlated with genetic findings (p0.00001). R-CMAPs were found in all COLQ-mutated patients (CMS1A) and Slow Channel CMS (SCCMS) (CMS1B). CMS1A exhibited greater decrements in accessory nerve RNS than CMS1B. Patients without R-CMAPs were classified into CMS2A (DOK7-, MUSK-, GFPT1-, GMPPB-, TOR1AIP-mutated) when exhibiting predominant accessory nerve RNS decrements, CMS2B (CHRNE, CHRND, RAPSN) with predominant radial nerve RNS decrements, or CMS2C (AGRN) if there were predominant fibular decrements. Our algorithm may have a major impact on diagnostic and therapeutic monitoring in CMS patients, as well as for validation of the pathogenicity of genetic variants. It should also be part of the evaluation of unexplained muscle weakness or complex neuromuscular phenotypes.
Published: 2022
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10. Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort

Author: Edouard Berling, Camille Verebi, Nadia Venturelli, Stéphane Vassilopoulos, Anthony Béhin, Céline Tard, Maud Michaud, Rocio Nur Villar Quiles, Savine Vicart, Marion Masingue, Robert‐Yves Carlier, Norma Beatriz Romero, Emmanuelle Lacene, France Leturcq, Bruno Eymard, Pascal Laforêt, and Tanya Stojkovic
Subjects: Neurology, Neurology (clinical)
Published: 2023
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11. <scp> SORD </scp> ‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages

Author: Nicolas Pons, Gorka Fernández‐Eulate, Antoine Pegat, Marie Théaudin, Régis Guieu, Paolo Ripellino, Manon Devedjian, Patrick Mace, Marion Masingue, Sarah Léonard‐Louis, Philipe Petiot, Pauline Roche, Emilien Bernard, Françoise Bouhour, Jean‐Marc Good, Annie Verschueren, Aude‐Marie Grapperon, Emmanuelle Salort, Anaïs Grosset, Jean‐Baptiste Chanson, Aleksandra Nadaj‐Pakleza, Anne‐Laure Bédat‐Millet, Ariane Choumert, Anne Barnier, Ghassen Hamdi, Gaëtan Lesca, Fabienne Prieur, Arnaud Bruneel, Philippe Latour, Tanya Stojkovic, Shahram Attarian, and Nathalie Bonello‐Palot
Subjects: Neurology, Neurology (clinical)
Published: 2023
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12. Implementation of an educational video to improve examination skills in Neuromuscular disorders

Author: Rocio Nur Villar Quiles, Jebrane Bouaoud, Jean Philippe Foy, Anthony Behin, Tan Mai Nguyen, Marion Masingue, Miguel Iniesto, Tanya Stojkovic, and Ahmed Idbaih
Abstract: Background: The acquisition of practical skills is one of the main objectives of medical education. Multimedia learning tools have proven to be effective and attractive in the field of medical education and video tools can contribute to the learning of different clinical skills. Our aim is to develop a video on the learning of the neuromuscular (NM) examination for medical students. Methods: We created a 18-minutes video showing a systematic NM examination, the main pathological signs and their semiological/topographical value. 27 medical students (group A) watched the NM video and filled out a NM and a control questionnaires before and after the viewing. A control group (termed B, n= 15) filled out both questionnaires before and after watching a control video. Students from the NM group also completed a survey on the utility of the video. Results: After viewing of the NM video, the group A students significantly improved their score on the NM questionnaire (6.36 ± 1.62 vs 9.12 ± 0.69, p Conclusions: Our video is well appreciated and useful to self-learning the NM examination and to strengthen students' self-confidence. Improving knowledge and skills is essential for optimizing early diagnosis and management of patients suffering from rare diseases such as NM diseases. Thus, video tools are suitable and relevant to improve practical skills and could be effectively used to complement classical teaching methods in the NM field.
Published: 2023
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13. LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD

Author: Tanya Stojkovic, Marion Masingue, Corinne Métay, Norma B. Romero, Bruno Eymard, Rabah Ben Yaou, Laetitia Rialland, Séverine Drunat, Corine Gartioux, Isabelle Nelson, Valérie Allamand, Gisèle Bonne, and Rocio Nur Villar-Quiles
Subjects: Neurology, Neurology (clinical)
Abstract: We report three siblings from a non-consanguineous family presenting with contractural limb-girdle phenotype with intrafamilial variability. Muscle MRI showed posterior thigh and quadriceps involvement with a sandwich-like sign. Whole-exome sequencing identified two compound heterozygous missense TTN variants and one heterozygous LAMA2 variant. Brain MRI performed because of concentration difficulties in one of the siblings evidenced white-matter abnormalities, subsequently found in the others. The genetic analysis was re-oriented, revealing a novel pathogenic intronic LAMA2 variant which confirmed the LAMA2-RD diagnosis. This work highlights the importance of a thorough clinical phenotyping and the importance of brain imaging, in order to orientate and interpret the genetic analysis.
Published: 2022

14. Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy

Author: Nawal Berber, Pascal Laforêt, Bertrand Fontaine, Marion Masingue, Leslie Motté, Malika Saadi, Anthony Behin, Sarah Leonard Louis, Denis Duboc, Rabah Ben Yaou, Guillaume Bassez, Karim Wahbi, Stéphane Ederhy, Caroline Stalens, Tanya Stojkovic, Gestionnaire, HAL Sorbonne Université 5, Association française contre les myopathies (AFM-Téléthon), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Myologie, 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)-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), Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Hôpital Raymond Poincaré [AP-HP], Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Cardiologie [CHU Cochin], This study was funded by grants from AFM-Téléthon (Association Française contre les Myopathies)., Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Unité clinique de pathologie neuromusculaire [CHU Pitié-Salpêtrière], Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), 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], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche en Myologie, and 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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, Male, medicine.medical_specialty, Management of heart failure, Cardiomyopathy, heart failure, Angiotensin-Converting Enzyme Inhibitors, 030204 cardiovascular system & hematology, Ventricular Function, Left, Young Adult, 03 medical and health sciences, 0302 clinical medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Internal medicine, medicine, Humans, Registries, 030212 general & internal medicine, Retrospective Studies, Ejection fraction, biology, business.industry, Hazard ratio, Angiotensin-converting enzyme, Middle Aged, medicine.disease, inherited myopathy, Confidence interval, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, 3. Good health, Hospitalization, Muscular Dystrophy, Duchenne, non-ischemic cardiomyopathy, Treatment Outcome, angiotensin-converting enzyme inhibitor, Neurology, Becker muscular dystrophy, Heart failure, Propensity score matching, biology.protein, Female, Neurology (clinical), Cardiomyopathies, business, Research Article
Abstract: International audience; Background: The latest practice guidelines from the American College of Cardiology/American Heart Association recommend the prescription of an ACE-i for patients presenting with non-ischemic cardiomyopathy when left ventricular ejection fraction (LVEF) falls below 40%. Objective: To determine if the initiation of treatment with an angiotensin-converting enzyme inhibitor (ACE-i) earlier than recommended by practice guidelines issued by professional societies improves the long-term cardiac outcomes of patients presenting with Becker muscular dystrophy (MD) cardiomyopathy. Methods: From a multicenter registry of Becker MD, we selected retrospectively patients presenting between January 1990 and April 2019 with a LVEF ≥40 and ≤49%. We used a propensity score analysis to compare the risk of a) hospitalization for management of heart failure (HF), and b) a decrease in LVEF to
Published: 2021
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15. Impact of loss of ambulation on right ventricular size in patients with neuromuscular disorders

Author: Abdallah Fayssoil, Nicolas Mansencal, Karim Wahbi, Marion Masingue, Pascal Laforet, Frederic Lofaso, David Orlikowski, and Tanya Stojkovic
Subjects: Cardiology and Cardiovascular Medicine
Published: 2023
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16. Roadmap-assisted V3 Vertebral Artery Interventional Approach to the Basilar Artery

Author: Stéphanie Lenck, Kevin Premat, Maichael Talaat, Amine Daoudi, Nader-Antoine Sourour, Marion Masingue, Eimad Shotar, Yves Samson, Mahmoud Elhorany, and Frédéric Clarençon
Subjects: medicine.medical_specialty, Neurology, business.industry, Vertebral artery, MEDLINE, medicine.artery, medicine, Basilar artery, Radiology, Nuclear Medicine and imaging, Neurology (clinical), Radiology, Neurosurgery, business, Systematic search, Neuroradiology
Published: 2020
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17. Plexopathies – Conclusion

Author: Marion Masingue
Subjects: Neurology, Neurology (clinical)
Published: 2023
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18. Cas clinique no 1 : tableau de PIDC juvénile – quand suspecter un diagnostic différentiel ?

Author: Cécilia Even, Marion Masingue, Charline Benoit, Vianney Poinsignon, Karine Viala, Thierry Maisonobe, and Tanya Stojkovic
Subjects: Neurology, Neurology (clinical)
Published: 2023
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19. Cardiac Outcomes in Adults With Mitochondrial Diseases

Author: Konstantinos Savvatis, Christoffer Rasmus Vissing, Lori Klouvi, Anca Florian, Mehjabin Rahman, Anthony Béhin, Abdallah Fayssoil, Marion Masingue, Tanya Stojkovic, Henri Marc Bécane, Nawal Berber, Fanny Mochel, Denis Duboc, Bertrand Fontaine, Bjørg Krett, Caroline Stalens, Julie Lejeune, Robert D.S. Pitceathly, Luis Lopes, Malika Saadi, Thomas Gossios, Vincent Procaccio, Marco Spinazzi, Céline Tard, Pascal De Groote, Claire-Marie Dhaenens, Claire Douillard, Andoni Echaniz-Laguna, Ros Quinlivan, Michael G. Hanna, Ali Yilmaz, John Vissing, Pascal Laforêt, Perry Elliott, Karim Wahbi, Queen Mary University of London (QMUL), IT University of Copenhagen (ITU), Association française contre les myopathies (AFM-Téléthon), University Hospital Münster - Universitaetsklinikum Muenster [Germany] (UKM), University College of London [London] (UCL), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Raymond Poincaré [Garches], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Université Paris Cité (UPCité), Sorbonne Université (SU), Hôpital Cochin [AP-HP], Aristotle University of Thessaloniki, MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département de Biochimie et Génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP), Hôpital Claude Huriez [Lille], CHU Lille, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), MR/S005021/1, Association Française contre les Myopathies, AFM, Medical Research Council, MRC: MR/S002065/1, Department of Health and Social Care, DH, University College London Hospitals NHS Foundation Trust, UCLH, NIHR Cambridge Biomedical Research Centre, This study was funded by grants from the Association Française contre les Myopathies (French Alliance against Myopathies), which was not involved in the design and conduct of the study, the collection, management, analysis, and interpretation of the data, the preparation, review or approval of the manuscript, and nor in the decision to submit the manuscript for publication. Dr Pitceathly is supported by a Medical Research Council (United Kingdom) Clinician Scientist Fellowship (MR/S002065/1). Drs Pitceathly and Hanna receive funding from a Medical Research Council (United Kingdom) strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) (MR/S005021/1). Dr Lopes is supported by a Medical Research Council (United Kingdom) clinical academic partnership (CARP) award. Dr Quinlivan was funded by National Institute for Health and Care Research Biomedical Research Centre, University College Hospitals Foundation Trust. The University College London Hospitals/University College London Queen Square Institute of Neurology sequencing facility receives a proportion of funding from the Department of Health's National Institute for Health and Care Research Biomedical Research Centre’s funding scheme. The clinical and diagnostic 'Rare Mitochondrial Disorders' Service in London is funded by the U.K. NHS Highly Specialised Commissioners. Dr Elliott has received consultancy fees from Pfizer, Sanofi, Sarepta, DinaQor, Freeline, Novo Nordisk, and Bristol Myers Squibb. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.
Subjects: Adult, conduction disease, mitochondrial diseases, [SDV]Life Sciences [q-bio], heart failure, sudden death, Heart, Stroke Volume, Prognosis, DNA, Mitochondrial, Ventricular Function, Left, single large-scale deletions, Risk Factors, Humans, Hypertrophy, Left Ventricular, Cardiology and Cardiovascular Medicine, G%22">m3243A>G
Abstract: International audience; Background: Patients with mitochondrial diseases are at risk of heart failure (HF) and arrhythmic major adverse cardiac events (MACE). Objectives: We developed prediction models to estimate the risk of HF and arrhythmic MACE in this population. Methods: We determined the incidence and searched for predictors of HF and arrhythmic MACE using Cox regression in 600 adult patients from a multicenter registry with genetically confirmed mitochondrial diseases. Results: Over a median follow-up time of 6.67 years, 29 patients (4.9%) reached the HF endpoint, including 19 hospitalizations for nonterminal HF, 2 cardiac transplantations, and 8 deaths from HF. Thirty others (5.1%) reached the arrhythmic MACE, including 21 with third-degree or type II second-degree atrioventricular blocks, 4 with sinus node dysfunction, and 5 sudden cardiac deaths. Predictors of HF were the m.3243A>G variant (HR: 4.3; 95% CI: 1.8-10.1), conduction defects (HR: 3.0; 95% CI: 1.3-6.9), left ventricular (LV) hypertrophy (HR: 2.6; 95% CI: 1.1-5.8), LV ejection fraction
Published: 2022
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20. A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

Author: Vincent Laugel, Karim Wahbi, Lucie Isoline Pisella, Rabab Debs, Sarah Souvannanorath, Martial Mallaret, Thierry Kuntzer, Sylvain Nollet, Jean-Christophe Antoine, Maud Michaud, Rocío-Nur Villar-Quiles, Aude-Marie Grapperon, Sandrine Segovia-Kueny, Pascal Laforêt, Céline Tard, EL-Hadi Hammouda, Géraldine Merret, Kévin Bigaut, Juliette Svahn, Laurent Kremer, Armelle Magot, Jean-Baptiste Noury, Guillemette Beaudonnet, Louise Debergé, Aleksandra Nadaj-Pakleza, Diane Friedman, Yann Péréon, Emmanuelle Salort-Campana, Pascal Cintas, Sara Fernandes, David H. Adams, Annamaria Molon, Fanny Duval, Anthony Behin, Shahram Attarian, Frédérique Audic, Jean-Philippe Camdessanché, Isabelle Desguerre, Tanya Stojkovic, Françoise Bouhour, Marion Masingue, Guilhem Solé, Caroline Espil-Taris, Savine Vicart, Jean-Baptiste Chanson, Assistance Publique - Hôpitaux de Marseille (APHM), Groupe hospitalier Pellegrin, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Lille, Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Strasbourg, Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Hôpital de la Timone [CHU - APHM] (TIMONE), Aix Marseille Université (AMU), Hôpital Bicêtre, Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Raymond Poincaré [AP-HP], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Henri Mondor [Créteil], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Bordeaux [Bordeaux], Lausanne University Hospital, Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire [Grenoble] (CHU), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CHU Necker - Enfants Malades [AP-HP], AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Association française contre les myopathies (AFM-Téléthon), Admin, Oskar, Troubles cognitifs dégénératifs et vasculaires - U 1171 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Henri Mondor, Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Thérapie des maladies du muscle strié, Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Hôpital Purpan [Toulouse], and CHU Toulouse [Toulouse]
Subjects: medicine.medical_specialty, Cross-sectional study, Population, 03 medical and health sciences, 0302 clinical medicine, Diabetes mellitus, Internal medicine, Health care, medicine, Humans, Pharmacology (medical), Risk factor, education, Myopathy, Pandemics, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, business.industry, SARS-CoV-2, Research, COVID-19, General Medicine, medicine.disease, Prognosis, Myasthenia gravis, 3. Good health, Neuromuscular diseases, Cross-Sectional Studies, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Cohort, Medicine, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: Background Due to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications with COVID-19. The objective of this study was to analyze the prevalence of COVID-19 among NMD patients and the risk factors for its impact and severity during the first wave of the pandemic. Clinical data were collected from NMD-COVID-19 patients, between March 25, 2020 and May 11, 2020 in an anonymous survey carried out by expert physicians from the French Health Care Network Filnemus. Results Physicians reported 84 patients, including: 34 with myasthenia gravis, 27 with myopathy and 23 with neuropathy. COVID-19 had no effect on NMD for 48 (58%) patients and 48 (58%) patients developed low COVID-19 severity. COVID-19 caused the death of 9 (11%) NMD patients. Diabetic patients were at greater risk of dying. Patients with diabetes, hypertension or severe forms of NMD had a higher risk of developing a moderate or severe form of COVID-19. In our cohort, corticosteroids and other immunosuppressants were not significantly associated with higher COVID-19 severity for acquired NMD. Conclusion During this period, a small percentage of French NMD patients was affected by COVID-19 compared to the general French population and COVID-19 had a limited short-term effect on them. Diabetes, hypertension and a severe degree of NMD were identified as risk factors of unfavorable outcome following COVID-19. Conversely, in our cohort of patients with acquired NMD, corticosteroids or other immunosuppressants did not appear to be risk factors for more severe COVID-19.
Published: 2021
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21. Genotype–phenotype correlation in French patients with myelin protein zero gene‐related inherited neuropathy

Author: Armelle Magot, David H. Adams, Sabrina Sacconi, Yann Péréon, Sarah Leonard Louis, Marie Subréville, Marion Masingue, Raul Juntas-Morales, Jean-Baptiste Noury, Steeve Genestet, Emilien Delmont, Jean-Baptiste Chanson, Marie-Hélène Violleau, Céline Labeyrie, Andoni Echaniz-Laguna, Julien Cassereau, Sara Fernandes, Douniazed Yahiaoui, Shahram Attarian, Sadia Beloribi-Djefaflia, Antoine Soulages, Céline Tard, Nathalie Bonello-Palot, Nicolas Lévy, Guilhem Solé, Tanya Stojkovic, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de référence des maladies neuromusculaires et de la SLA, and Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: Oncology, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Late onset, Disease, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, Charcot-Marie-Tooth Disease, Internal medicine, Humans, Medicine, 030212 general & internal medicine, Gene, Genetic Association Studies, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, Mutation, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Myelin protein zero, Pathophysiology, Clinical trial, Phenotype, Neurology, Neurology (clinical), business, Myelin P0 Protein, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: BACKGROUND AND PURPOSE Preparations for clinical trials of unfolded protein response (UPR) inhibitors (such as Sephin1) that target the upregulated UPR in patients with Charcot-Marie-Tooth disease (CMT) carrying MPZ mutations are currently underway. The inclusion criteria for these trials are still being formulated. Our objective was to characterize the relation between genotypes and phenotypes in patients with CMT caused by MPZ mutations, and to refine the inclusion criteria for future trials. METHODS Clinical and neurophysiological data of CMT patients with MPZ mutations were retrospectively collected at 11 French reference centers. RESULTS Forty-four mutations in MPZ were identified in 91 patients from 61 families. There was considerable heterogeneity. The same mutation was found to cause either axonal or demyelinating neuropathy. Three groups were identified according to the age at disease onset. CMT Examination Score (CMTES) tended to be higher in the early (≤22 years) and adult (23-47 years) onset groups (mean CMTESv2 = 10.4 and 10.0, respectively) than in the late onset group (>47 years, mean CMTESv2 = 8.6, p = 0.47). There was a significant positive correlation between CMTESv2 and the age of patients in Groups I (p = 0.027) and II (p = 0.023), indicating that clinical severity progressed with age in these patients. CONCLUSIONS To optimize the selection of CMT patients carrying MPZ mutations for the upcoming trials, inclusion criteria should take into account the pathophysiology of the disease (upregulated UPR). Recruited patients should have a mild to moderate disease severity and a disease onset at between 18 and 50 years, as these patients exhibit significant disease progression over time.
Published: 2021
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22. Brody myopathy demonstrates a pseudo‐increment on repetitive nerve stimulation

Author: Savine Vicart, Emmanuel Fournier, Damien Sternberg, Guillaume Bassez, Tanya Stojkovic, Armelle Magot, Marianne Arzel, Marion Masingue, Thierry Kuntzer, Yann Péréon, Anthony Behin, and Bruno Eymard
Subjects: Male, 0301 basic medicine, medicine.medical_specialty, Myotonia Congenita, Physiology, Brody myopathy, Action Potentials, 030105 genetics & heredity, Sarcoplasmic Reticulum Calcium-Transporting ATPases, Sarcoplasmic reticulum calcium, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), Internal medicine, medicine, Humans, Repetitive nerve stimulation, Muscle, Skeletal, Ulnar nerve, Ulnar Nerve, Muscle biopsy, medicine.diagnostic_test, Electromyography, business.industry, Electrodiagnosis, Electromyoneurography, medicine.disease, Electric Stimulation, Compound muscle action potential, Muscle relaxation, Mutation, Exercise Test, Cardiology, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract: INTRODUCTION Brody myopathy (BM) is a recessive condition caused by mutations in the ATP2A1 gene and usually induces impaired muscle relaxation during and after exercise. Diagnosis relies on needle electromyography showing electrical silence, muscle biopsy with decreased sarcoplasmic reticulum calcium adenosine triphosphatase activity, and genetic analysis. Electrodiagnostic functional analyses are useful in the diagnosis of channelopathies, and thus may be impaired in BM. METHODS We performed exercise tests and repetitive nerve stimulation (RNS; 10 supramaximal stimuli at 3 Hz) in 10 patients with BM. RESULTS All participants showed incremental responses on RNS. Compound muscle action potential amplitude was increased and duration was decreased, especially in the ulnar nerve (+30.2 ± 7.1% and - 30.3 ± 2.8%, respectively; both P
Published: 2020
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23. Mutations in the J domain of DNAJB6 cause dominant distal myopathy

Author: Satoru Noguchi, Marion Masingue, Emilia Kerty, Conrad C. Weihl, Anna Vihola, Montse Olivé, Per Harald Jonson, Manu Jokela, Peter Hackman, Ichizo Nishino, Bjarne Udd, Rocio Bengoechea, Michio Inoue, Marco Savarese, Johanna Palmio, Masanori Nakagawa, Jaakko Sarparanta, Department of Medical and Clinical Genetics, University of Helsinki, Medicum, Genetics, and Biosciences
Subjects: Adult, Male, 0301 basic medicine, DNAJB6 gene, PROTEIN, Nerve Tissue Proteins, Biology, Article, 3124 Neurology and psychiatry, 03 medical and health sciences, symbols.namesake, HUNTINGTIN, 0302 clinical medicine, Chaperonopathy, medicine, Humans, Myopathy, Gene, Genetics (clinical), Aged, Aged, 80 and over, CHAPERONE, Sanger sequencing, Muscle biopsy, medicine.diagnostic_test, 3112 Neurosciences, HSP40 Heat-Shock Proteins, Middle Aged, AGGREGATION, Molecular biology, Pedigree, 3. Good health, Distal Myopathies, MODEL, 030104 developmental biology, Neurology, I-TASSER, Pediatrics, Perinatology and Child Health, symbols, MRJ, Female, Limb-girdle muscular dystrophy, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, Molecular Chaperones
Abstract: Eight patients from five families with undiagnosed dominant distal myopathy underwent clinical, neurophysiological and muscle biopsy examinations. Molecular genetic studies were performed using targeted sequencing of all known myopathy genes followed by segregation of the identified mutations in the affected families using Sanger sequencing. Two novel mutations in DNAJB6 J domain, c.149C>T (p.A50V) and c.161A>C (p.E54A), were identified as the cause of disease. The muscle involvement with p.A50V was distal calf-predominant, and the p.E54A was more proximo-distal. Histological findings were similar to those previously reported in DNAJB6 myopathy. In line with reported pathogenic mutations in the glycine/phenylalanine (G/F) domain of DNAJB6, both the novel mutations showed reduced anti-aggregation capacity by filter trap assay and TDP-43 disaggregation assays. Modeling of the protein showed close proximity of the mutated residues with the G/F domain. Myopathy-causing mutations in DNAJB6 are not only located in the G/F domain, but also in the J domain. The identified mutations in the J domain cause dominant distal and proximo-distal myopathy, confirming that mutations in DNAJB6 should be considered in distal myopathy cases.
Published: 2020
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24. Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations

Author: Marion Masingue, Fanny Mochel, Claude Jardel, Damien Galanaud, Maya Tchikviladzé, Isaac Adanyeguh, Thierry Maisonobe, 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), 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), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neurophysiologie [CHU Pitié-Salpêtrière], Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], Service de Neuroradiologie [CHU Pitié-Salpêtrière], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), 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)-Sorbonne Université (SU), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), and Gestionnaire, Hal Sorbonne Université
Subjects: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Mitochondrial Diseases, Adolescent, [SDV]Life Sciences [q-bio], Neuroimaging biomarkers, Gyrus Cinguli, Amygdala, Basal Ganglia, Radiological biomarker, Young Adult, 03 medical and health sciences, Volumetry, 0302 clinical medicine, Atrophy, Basal ganglia, medicine, Animals, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Molecular Biology, Gene, Aged, Retrospective Studies, business.industry, Myography, Polymerase gamma mutations, Electromyoneurography, Cell Biology, Middle Aged, medicine.disease, DNA Polymerase gamma, [SDV] Life Sciences [q-bio], Diffusion tensor imaging, 030104 developmental biology, medicine.anatomical_structure, Mutation, Molecular Medicine, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Brainstem, business, Biomarkers, 030217 neurology & neurosurgery, Brain Stem, Diffusion MRI
Abstract: International audience; Mutations in the gene encoding polymerase gamma (POLG) are a common cause of mitochondrial diseases in adults. We retrospectively analyzed volumetric and diffusion tensor imaging data from 20 adult POLG-mutated patients compared to healthy controls. We used an original clinical binary load score and electroneuromyography to evaluate disease severity. Patients showed atrophy in the basal ganglia, amygdala, and brainstem (p
Published: 2019
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25. A Great Athlete with Muscular Weakness

Author: Claude Bachmeyer, Marion Masingue, Pierre-Jean Marc, Thimothée Lenglet, Rim Bourguiba, Service de Médecine Interne [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neurophysiologie [CHU Pitié-Salpêtrière], 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), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), HAL-SU, Gestionnaire, Service de Médecine Interne = Hôpital de jour de médecine [CHU Tenon], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: Male, 0303 health sciences, medicine.medical_specialty, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Muscular weakness, MEDLINE, General Medicine, Muscular Dystrophy, Facioscapulohumeral, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Athletes, Physical therapy, medicine, Humans, Genetic Predisposition to Disease, business, 030217 neurology & neurosurgery, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030304 developmental biology
Abstract: International audience
Published: 2020
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26. Cas clinique no 2

Author: Juliette Dufour, Yann Nadjar, and Marion Masingue
Subjects: Neurology, Neurology (clinical)
Published: 2022
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27. Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes

Author: Maria del Mar Amador, F. Lamari, Rabab Debs, Marion Masingue, Bertrand Degos, Vincent Perlbarg, Emmanuel Roze, Fanny Mochel, 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), Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), 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], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Imagerie Biomédicale (LIB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de neurosciences translationnelles de Paris (NeurATRIS - IHU-A-ICM), Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre interdisciplinaire de recherche en biologie (CIRB), Labex MemoLife, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-École normale supérieure - Paris (ENS Paris), and Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, Diarrhea, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Xanthoma, Chenodeoxycholic Acid, Severity of Illness Index, Gastroenterology, Cerebrotendinous Xanthomatosis, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, [SDV.SP.MED]Life Sciences [q-bio]/Pharmaceutical sciences/Medication, Intellectual Disability, Internal medicine, Chenodeoxycholic acid, Severity of illness, Genetics, medicine, Humans, Child, Genetics (clinical), Retrospective Studies, Neurologic Examination, Electromyography, business.industry, Brain, Neurodegenerative Diseases, Retrospective cohort study, Xanthomatosis, Cerebrotendinous, Middle Aged, Jaundice, medicine.disease, Magnetic Resonance Imaging, Pathophysiology, 3. Good health, Cholestanol, 030104 developmental biology, Peripheral neuropathy, chemistry, Female, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: International audience; Background: Cerebrotendinous xanthomatosis (CTX) is a rare neurodegenerative disease related to sterols metabolism. It affects both central and peripheral nervous systems but treatment with chenodeoxycholic acid (CDCA) has been reported to stabilize clinical scores and improve nerve conduction parameters. Few quantitative brain structural studies have been conducted to assess the effect of CDCA in CTX.Methods and results: We collected retrospectively clinical, neurophysiological, and quantitative brain structural data in a cohort of 14 patients with CTX treated by CDCA over a mean period of 5 years. Plasma cholestanol levels normalized under treatment with CDCA within a few months. We observed a significant clinical improvement in patients up to 25 years old, whose treatment was initiated less than 15 years after the onset of neurological symptoms. Conversely, patients whose treatment was initiated more than 25 years after neurological disease onset continued their clinical deterioration. Eleven patients presented with a length-dependent peripheral neuropathy, whose electrophysiological parameters improved significantly under CDCA. Volumetric analyses in a subset of patients showed no overt volume loss under CDCA. Moreover, diffusion weighted imaging showed improved fiber integrity of the ponto-cerebellar and the internal capsule with CDCA. CDCA was well tolerated in all patients with CTX.Conclusion: CDCA may reverse the pathophysiological process in patients with CTX, especially if treatment is initiated early in the disease process. Besides tendon xanthoma, this study stresses the need to consider plasma cholestanol measurement in any patient with infantile chronic diarrhea and/or jaundice, juvenile cataract, learning disability and/or autism spectrum disorder, pyramidal signs, cerebellar syndrome or peripheral neuropathy.
Published: 2018
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28. Fatigue evaluation in fingolimod treated patients: An observational study

Author: Jean-Sébastien Vidal, Marion Masingue, Caroline Papeix, Elisabeth Maillart, Rabab Debs, Valérie Delvaux, and Catherine Lubetzki
Subjects: Adult, Male, medicine.medical_specialty, Young Adult, 03 medical and health sciences, Multiple Sclerosis, Relapsing-Remitting, 0302 clinical medicine, Quality of life, Open label study, medicine, Humans, Fatigue Severity Scale, In real life, Prospective Studies, 030212 general & internal medicine, Fatigue, Fingolimod Hydrochloride, business.industry, Multiple sclerosis, General Medicine, medicine.disease, Fingolimod, Fatigue impact scale, Treatment Outcome, Neurology, Physical therapy, Female, Observational study, Neurology (clinical), business, Immunosuppressive Agents, 030217 neurology & neurosurgery, medicine.drug
Abstract: Fatigue is one of the most disabling symptoms in Multiple Sclerosis (MS) patients and is associated with a low quality of life. Fingolimod (Fg), a sphingosine 1-phosphate receptor modulator, is the first oral MS disease modifying treatment. Little is known about its effect on fatigue. To assess the impact of Fg on fatigue within the first 6 months of treatment in MS patients, we conducted a prospective, open label study, in real life setting.Change of Modified Fatigue Impact Scale (MFIS) between Fg treatment start and at 6 months was used as a first outcome. Secondary outcomes were changes of MFIS subscales, Fatigue severity scale (FSS) and Visual Analogic Scale of Fatigue (VAS-F) scores, RESULTS: 54 completed the study at M6. No significant change was noted in global MFIS (and neither in sub analysis of MFIS), FSS or VAS-F at M6. Patients with high level of fatigue (MFIS or ≥38) had a higher EDSS score than patients with lower level of fatigue (MFIS38), (mean 3.3, [SD 1.6] versus 1.6 [SD1.1], p=0.0002) but showed no significant difference in MFIS evolution at M6. There was no significant statistical difference in fatigue parameters evolution at M6 within patients Nz+ or Nz-.There is no significant impact of Fg on fatigue after 6 months of treatment.
Published: 2017
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29. L’annonce d’une maladie neuromusculaire à un patient adulte : et après ?

Author: Marcela Gargiulo, Nathalie Angeard, Guillaume Bassez, Bettina Beaujard, Anthony Behin, Ariane Herson, Sarah Louis, Marion Masingue, Sandra Misdrahi, Sabrina Sayah, Tanya Stojkovic, and Bruno Eymard
Published: 2020
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30. Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III

Author: Marion Masingue, Luca Bello, Andrea Barp, David Tobaly, Ariane Perry, Pascal Laforêt, Robert-Yves Carlier, Pierre G. Carlier, Valérie Decostre, Philippe Labrune, Dalila Habes, and François Petit
Subjects: 0301 basic medicine, Adult, Male, glycogen-storage disease type III, heatmap, Mercuri, muscle MRI, pattern recognition, whole-body MRI, Adolescent, Female, Glycogen Storage Disease Type III, Humans, Magnetic Resonance Imaging, Middle Aged, Muscle, Skeletal, Severity of Illness Index, Vital Capacity, Walk Test, Whole Body Imaging, Young Adult, Physiology, Fatty replacement, 030105 genetics & heredity, Glycogen storage disease type III, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Muscle nerve, Physiology (medical), medicine, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Anatomy, Skeletal, medicine.disease, Patient management, Coronal plane, Muscle, Neurology (clinical), Whole body, business, Relevant information, 030217 neurology & neurosurgery
Abstract: INTRODUCTION The main objective of this study was to describe muscle involvement on whole-body magnetic resonance imaging scans in adults at different stages of glycogen-storage disease type III (GSDIII). METHODS Fifteen patients, 16-59 years of age, were examined on a 3-T system. The examinations consisted of coronal and axial T1-weighted images or fat images with a Dixon technique, and were scored for 47 muscles using Mercuri's classification. Muscle changes consisted of internal bright signals of fatty replacement. RESULTS Distribution across muscles showed predominant signal alteration in the lower limbs and postural muscles. This finding is consistent with the overall clinical presentation of GSDIII and the results of heatmap scores. Review of the MRI scans provided new information regarding recurrent muscle changes, particularly in the soleus, gastrocnemius medial head, and thoracic extensor muscles. DISCUSSION Whole-body muscle imaging provides clinically relevant information regarding muscle involvement in GSDIII. A severity score may contribute to improved patient management. Muscle Nerve, 2019.
Published: 2019

31. A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect

Author: Julien Fauré, Sarah Leonard-Louis, Guilhem Solé, Tanya Stojkovic, Marion Masingue, Centre de Ressources Biologiques APHP-SU (PASS-CRB-APHP-SU), Unité Mixte de Service Production et Analyse de données en Sciences de la vie et en Santé (PASS), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), and CHU Grenoble
Subjects: 0301 basic medicine, Pathology, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Scoliosis, Ion Channels, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Medicine, Humans, Respiratory function, Genetics (clinical), Arthrogryposis, Proprioception, Respiratory distress, business.industry, Siblings, Electromyoneurography, medicine.disease, Hypotonia, Pedigree, 030104 developmental biology, Phenotype, Neurology, Codon, Nonsense, Pediatrics, Perinatology and Child Health, Somatosensory Disorders, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Cutis laxa
Abstract: PIEZO2 mutations have been described in dominant arthrogryposis, but homozygous mutations of PIEZO2 may also be responsible for more complex clinical patterns, associating distal arthrogryposis, neonatal respiratory insufficiency, scoliosis and proprioceptive impairment. We report here two sisters presenting with these clinical and genetic features. They had a similar phenotype, with severe hypotonia and respiratory distress at birth, delayed acquisition of motor milestones and need of scoliosis surgery. Hypotonia and alteration of proprioception were at the forefront of clinical examination for both, along with areflexia, hyperlaxity, cutis laxa, and discrete facial dysmorphy. Electrophysiological studies, including electroneuromyography and sensory evoked potentials, showed a mild sensory axonopathy without any myopathic features, but revealed a peripheral proximal lemniscal defect. Creatine kinase, muscular MRI and biopsy were normal, as well as cerebral MRI and neurometabolic biological explorations. They had a moderate restrictive syndrome on respiratory function tests and cardiac function was normal. Molecular studies performed on a panel of genes involved in distal arthrogryposis disclosed a nonsense homozygous c.3241C > T (p.Arg1051*) mutation in the PIEZO2 gene, which was also present at the heterozygous state in their mother's DNA. This new PIEZO2 mutation was in accordance with the phenotype combining arthrogryposis, scoliosis, hyperlaxity and proprioceptive impairment.
Published: 2018
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32. Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition

Author: Yann Nadjar, Fathi Moussa, Marion Masingue, Jean-François Benoist, Catherine Lubetzki, Emmanuel Roze, and Frédéric Sedel
Subjects: Adult, Male, medicine.medical_specialty, Mitochondrial Diseases, Adolescent, Folate Metabolism, Brain calcifications, Cerebral folate deficiency, Folic Acid Deficiency, Gastroenterology, 03 medical and health sciences, Folinic acid, Young Adult, 0302 clinical medicine, Cerebrospinal fluid, Folic Acid, Neuroimaging, Cerebellar Diseases, Internal medicine, Intellectual Disability, Medicine, Humans, In patient, 030212 general & internal medicine, Child, Tetrahydrofolates, Aged, Retrospective Studies, business.industry, Infant, Newborn, Calcinosis, Infant, Proteins, Retrospective cohort study, Middle Aged, Magnetic Resonance Imaging, White Matter, Neurology, Child, Preschool, Mutation, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug, Follow-Up Studies
Abstract: To describe the phenotype and the response to folinic acid supplementation of cerebral folate deficiency (CFD) in adults, a disorder diagnosed on low 5-methyltetrahydro-folate (5MTHF) in cerebrospinal fluid (CSF), which can correspond to a inherited disorder of folate metabolism (IDFM) or to a metabolic consequence of various neurological diseases.We conducted a retrospective study on 224 adult patients with neurological symptoms who had a 5MTHF CSF dosage, collecting their neurologic and neuroimaging data.69 patients had CFD (CSF 5MTHF level 41 nmol/L), 25 of them had severe CFD (sCFD; ≤25 nmol/L) with adult onset neurological symptoms in 41%. 56% of sCFD patients had an underlying identified neurologic disorder, mainly mitochondrial diseases, hepatic encephalopathy and primary brain calcifications (no identified IDFM), the others were classified as undiagnosed. sCFD patients presented most frequently pyramidal syndrome (75%), movement disorders (56%), cerebellar syndrome (50%) and intellectual disability (46%). MRI findings mostly showed white matter abnormalities (WMA; 32%) and calcifications (12%), and were normal in 23%. The clinico-radiological phenotype of sCFD patients was not clearly different from non CFD patients in terms of manifestations frequency. However, their neurological picture was more complex with a higher number of combined neurological symptoms (4.7±1.6 vs 3.4±1.7, p = .01). In Magnetic Resonance Spectroscopy (MRS), Choline/Creatine (Cho/Cr) ratio was lower in sCFD patients (n = 7) compared to non-CFD patients (n = 73) (p = .005), with good sensitivity (71%) and excellent specificity (92%). Among twenty-one CFD patients treated with folinic acid, nine had a sustained improvement, all with sCFD but one (50% of sCFD patients improved). In two undiagnosed patients with extremely low 5MTHF CSF values, MRI WMA and low Cho/Cr ratios, folinic acid treatment leaded to a dramatic clinical and radiological improvement.CSF 5MTHF dosage should be considered in patients with mitochondrial diseases, primary brain calcifications and unexplained complex neurological disorders especially if associated with WMA, since folinic acid supplementation in patients with sCFD is frequently efficient.
Published: 2018

33. Nouvelles limites de la thrombolyse intraveineuse dans le traitement des infarctus cérébraux

Author: Sonia Alamowitch and Marion Masingue
Subjects: medicine.medical_specialty, medicine.diagnostic_test, business.industry, medicine.medical_treatment, Ischemic strokes, MEDLINE, Magnetic resonance imaging, General Medicine, Thrombolysis, Target population, medicine.disease, law.invention, Randomized controlled trial, law, Internal medicine, medicine, Cardiology, business, Stroke, Acute ischemic stroke
Abstract: The benefit of intravenous thrombolysis with rt-pa has been demonstrated in acute ischemic stroke up to 4 h 30 after the first symptoms. The number of patients with stroke treated by rt-pa remains low at less than 5%. In the license of rt-pa in acute ischemic stroke, there are numerous contra-indications explained by the fear of cerebral hemorrhagic complications. These contra-indications are based on the first therapeutic trials published more than 15 years ago, but are not all evidence-based. Large post-marketing registers and new randomized trials have shown a favorable ratio benefit/risk of rt-pa in acute ischemic strokes in some classical contra-indications. Reconsidering some of the official contra-indications would increase the target population with treatable acute ischemic stroke using rt-pa to 20%.
Published: 2015
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34. WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon

Author: Jimmy Perrot, Tanya Stojkovic, Guenaelle Piguet-Lacroix, Marion Masingue, Robert-Yves Carlier, and Philippe Latour
Subjects: 0301 basic medicine, Adult, Genes, Recessive, Nerve Tissue Proteins, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, Consanguinity, Young Adult, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Exome Sequencing, Genetics, Coding region, Humans, Gene, Genetics (clinical), Exome sequencing, Genetic heterogeneity, Siblings, Alternative splicing, Homozygote, Intron, Disease gene identification, Stop codon, Pedigree, 030104 developmental biology, Codon, Nonsense, Female, 030217 neurology & neurosurgery
Abstract: Charcot-Marie-Tooth disease (CMT) refers to a group of clinically and genetically heterogeneous inherited neuropathies. Ganglioside-induced differentiation-associated protein 1 GDAP1-related CMT has been reported in an autosomal dominant or recessive form in patients presenting either axonal or demyelinating neuropathy. We report two Sri Lankan sisters born to consanguineous parents and presenting with a severe axonal sensorimotor neuropathy. The early onset of the disease, the distal and proximal weakness and atrophy leading to major disability, along with areflexia, and, most notably, vocal cord and diaphragm paralysis were highly evocative of a GDAP1-related CMT. However, sequencing of the coding regions of the gene was normal. Whole-exome sequencing (WES) was performed and revealed that the largest region of homozygosity was around GDAP1 with several variants, mostly in non-coding regions. In view of the high clinical suspicion of GDAP1 gene involvement, we examined the variants in this gene and this, along with functional studies, allowed us to identify an alternative splicing site revealing a cryptic in-frame stop codon in intron 4 responsible for a severe loss of wild-type GDAP1. This work is the first to describe a deleterious mutation in GDAP1 gene outside of coding sequences or intronic junctions and emphasizes the importance of interpreting molecular analysis, and in particular WES results, in light of the clinical and electrophysiological phenotype.
Published: 2017

35. P.100Pseudo-increment at repetitive nerve stimulation (Arzel's sign): a new tool for Brody myopathy diagnosis

Author: Marion Masingue, Yann Péréon, Thierry Kuntzer, Emmanuel Fournier, Damien Sternberg, Bruno Eymard, Anthony Behin, M. Arzel, T. Stojkovic, G. Bassez, and Savine Vicart
Subjects: medicine.medical_specialty, business.industry, Brody myopathy, medicine.disease, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Cardiology, Neurology (clinical), Repetitive nerve stimulation, business, Genetics (clinical), Sign (mathematics)
Published: 2019
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36. Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment

Author: Frédéric Sedel, Isaac M. Adanyeguh, Fanny Mochel, Yann Nadjar, Damien Galanaud, Marion Masingue, 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), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), MedDay Pharmaceuticals, Service de Neuroradiologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière]
Subjects: Adult, 0301 basic medicine, medicine.medical_specialty, 1-Deoxynojirimycin, Internal capsule, Adolescent, Neuroimaging, Corpus callosum, Gastroenterology, Young Adult, 03 medical and health sciences, Volumetry, 0302 clinical medicine, Atrophy, Internal medicine, Miglustat, Fractional anisotropy, medicine, Humans, Glycoside Hydrolase Inhibitors, Genetics(clinical), Pharmacology (medical), Child, Niemann-Pick type C, Genetics (clinical), Aged, Cerebral atrophy, Medicine(all), medicine.diagnostic_test, business.industry, Research, Putamen, Brain, Niemann-Pick Disease, Type C, Magnetic resonance imaging, General Medicine, Middle Aged, medicine.disease, 3. Good health, Diffusion tensor imaging, 030104 developmental biology, Case-Control Studies, Child, Preschool, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], business, Biomarkers, 030217 neurology & neurosurgery, medicine.drug
Abstract: Background Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance imaging (MRI) signs. As substrate reduction therapy with miglustat is now used in almost all patients, its efficacy and the course of the disease are sometimes difficult to evaluate. Neuroimaging biomarkers could prove useful in this matter. We first performed a retrospective analysis of volumetric and diffusion tensor imaging (DTI) data on 13 adult NPC patients compared to 13 controls of similar age and sex. Eleven NPC patients were then studied using the same neuroimaging modalities over a mean of 5 years. The NPC composite score was used to evaluate disease severity. Results NPC patients showed atrophy in basal ganglia – pallidum (p = 0.029), caudate nucleus (p = 0.022), putamen (p = 0.002) and thalamus (p
Published: 2017
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37. Homozygous p.R707W MFN2 mutation is associated with neuropathy, lipomatosis, peripheral lipoatrophy and metabolic alterations

Author: Corinne Vigouroux, P. Laforêt, Marion Masingue, C. Vatier, Claude Jardel, Bruno Eymard, Philippe Latour, T. Stojkovic, and Isabelle Jéru
Subjects: Pathology, medicine.medical_specialty, business.industry, Lipomatosis, MFN2, medicine.disease, Peripheral, Neurology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), medicine, Neurology (clinical), business, Lipoatrophy, Genetics (clinical)
Published: 2017
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38. [An update on limitations of intravenous thrombolysis to treat acute ischemic stroke]

Author: Marion, Masingue and Sonia, Alamowitch
Subjects: Aged, 80 and over, Stroke, Fibrinolytic Agents, Contraindications, Age Factors, Humans, Administration, Intravenous, Thrombolytic Therapy, Magnetic Resonance Imaging, Brain Ischemia
Abstract: The benefit of intravenous thrombolysis with rt-pa has been demonstrated in acute ischemic stroke up to 4 h 30 after the first symptoms. The number of patients with stroke treated by rt-pa remains low at less than 5%. In the license of rt-pa in acute ischemic stroke, there are numerous contra-indications explained by the fear of cerebral hemorrhagic complications. These contra-indications are based on the first therapeutic trials published more than 15 years ago, but are not all evidence-based. Large post-marketing registers and new randomized trials have shown a favorable ratio benefit/risk of rt-pa in acute ischemic strokes in some classical contra-indications. Reconsidering some of the official contra-indications would increase the target population with treatable acute ischemic stroke using rt-pa to 20%.
Published: 2014

39. Effet sur la fatigue du traitement par fingolimod dans les 6 premiers mois chez des patients suivis pour une sclérose en plaques rémittente

Author: Elisabeth Maillart, Marion Masingue, Caroline Papeix, Catherine Lubetzki, and Rabab Debs
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction Le fingolimod est reserve aux formes actives de scleroses en plaques remittentes. Certains patients alleguent une fatigue plus marquee sous traitement. Or peu de donnees existent concernant son impact sur ce symptome. Objectifs Nous avons voulu mesurer l’evolution de la fatigue ressentie chez des patients suivis pour une SEP remittente avant et pendant le traitement par fingolimod. Methodes Cette etude monocentrique prospective observationnelle a inclus consecutivement 38 patients SEP hospitalises pour initiation d’un traitement par fingolimod. Deux auto-questionnaires valides (MFIS et FSS) et une echelle visuelle (VAS) mesurant leur fatigue etaient completes le jour de l’initiation et a 6 mois. Les caracteristiques cliniques et demographiques ainsi que les donnees radiologiques ont ete detaillees. L’impact du traitement sur la fatigue est mesure par le taux de variation de la MFIS entre M0 et M6. Resultats L’âge moyen etait de 35 ans. A M0, le score moyen de l’EDSS etait a 3, de la MFIS a 43, de la FFS a 42 et de la VAS a 6. A M6, les 15 premiers patients avaient un EDSS moyen a 3, une MFIS a 44, une FSS a 39 et une VAS a 7. Bien que les scores ne different pas de M0 a M6 le score MFIS pour chaque patient etait augmente en moyenne de 62 %, variation plus marquee sur les items physique (73 %) et cognitif (86 %) que psychosocial (14 %). Quatre patients avaient presente au moins 1 poussee et deux avaient progresse sur l’IRM. Discussion La fatigue est une plainte frequente au cours de la SEP (pour plus de 70 % des patients), et peut jouer un role majeur dans le handicap. Au vu de ces resultats preliminaires, le fingolimod semble majorer ce symptome, en particulier sur les plans physique et cognitif, independamment de l’activite clinique ou radiologique de la maladie. Les resultats sur l’ensemble de la cohorte seront presentes au congres (objectif de 40 patients). Conclusion Les resultats de cette etude reveleront si la fatigue alleguee par certains patients est en rapport avec le traitement par fingolimod. Il se discutera alors de prendre en compte ce symptome lors sa prescription.
Published: 2015
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40. Une méningoradiculopathie lombosacrée chronique isolée révélatrice d’un lymphome de MALT

Author: Alexandra Diaz-Alba, Khê Hoang-Xuan, Marion Masingue, Matthieu Peyre, Franck Bielle, Yann Nadjar, and Clémence Marois
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction Nous rapportons le cas d’un syndrome de la queue de cheval d’aggravation progressive, aboutissant au diagnostic de lymphome B de la zone marginale, lie a une arachnoidite chronique avec infiltration des racines lombosacrees. Observation Une patiente de 73 ans fut hospitalisee en 2014 pour des troubles de la marche avec lombo-radiculalgies, et incontinence urinaire et fecale, s’aggravant progressivement depuis 3 ans. Plusieurs bilans exhaustifs avaient ete pratiques (dont 2 biopsies meningees) sans diagnostic etabli. La corticotherapie debutee depuis plusieurs mois avait permis une amelioration transitoire. A l’examen, on notait une paraparesie, une ataxie proprioceptive, sans autre signe general qu’un syndrome sec. Les IRM du nevraxe montrerent un aspect d’arachnoidite lombosacree avec prise de contraste des meninges et des racines de la queue de cheval tres epaissies, et une hydrocephalie communicante tetraventriculaire. L’analyse du LCR ramenait une meningite lymphocytaire (496/mm 3 ) avec 22 % de lymphocytes B actives monotypiques, une proteinorachie a 13 g/L et une elevation des IL6 et 10. On retrouvait un pic monocolonal IgM serique, une sialadenite grade 4 et a l’EMG une neuropathie axonale avec radiculopathie L4-L5. Le bilan systemique (TDM-TAP, BOM, FOGD) etait negatif. Une nouvelle biopsie radiculaire conclut a un lymphome B de la zone marginale (MALT), infiltrant directement les racines nerveuses. Un traitement par rituximab et chloraminophene fut debute. Discussion Les lymphomes du MALT du systeme nerveux sont rares. Ils se developpent volontiers dans les zones d’agregation meningotheliales, se presentant comme une masse durale intracrânienne mimant un meningiome. Nous n’avons pas trouve de cas similaire se revelant par une atteinte meningoradiculaire isolee. Cette observation interroge sur l’origine primitivement peripherique (neurolymphomatose) du MALT et sur son lien avec un syndrome de Sjogren. Conclusion Ce cas decrit une presentation exceptionnelle de lymphome du MALT sous une forme meningo-radiculaire isolee, qui elargit le spectre clinique de la maladie. Informations complementaires Remerciements : Dr Fouad Skandrani, Dr Frederic Charlotte, Dr Delphine Larrieu-Ciron.
Published: 2015
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41. Association of Clinical, Biological, and Brain Magnetic Resonance Imaging Findings With Electroencephalographic Findings for Patients With COVID-19

Author: Virginie, Lambrecq, Aurélie, Hanin, Esteban, Munoz-Musat, Lydia, Chougar, Salimata, Gassama, Cécile, Delorme, Louis, Cousyn, Alaina, Borden, Maria, Damiano, Valerio, Frazzini, Gilles, Huberfeld, Frank, Landgraf, Vi-Huong, Nguyen-Michel, Phintip, Pichit, Aude, Sangare, Mario, Chavez, Capucine, Morélot-Panzini, Elise, Morawiec, Mathieu, Raux, Charles-Edouard, Luyt, Pierre, Rufat, Damien, Galanaud, Jean-Christophe, Corvol, Catherine, Lubetzki, Benjamin, Rohaut, Sophie, Demeret, Nadya, Pyatigorskaya, Lionel, Naccache, Vincent, Navarro, Safia, Said, 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), Service de Neurophysiologie [CHU Pitié-Salpêtrière], 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), Service de Neuroradiologie [CHU Pitié-Salpêtrière], Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Service de Pneumologie et Réanimation Médicale [CHU Pitié-Salpêtrière] (Département ' R3S '), Service d'Anesthésie réanimation [CHU Pitié-Salpêtrière], Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de cardiologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Service de Cardiologie [CHU Pitié-Salpêtrière], Service de Département d'Information Médicale [CHU Pitié-Salpêtrière] (DIM), Unité fonctionnelle d'épilepsie [CHU Pitié-Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-IFR70-CHU Pitié-Salpêtrière [AP-HP], Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Département Médico-Universitaire Neurosciences [Sorbonne Université] (DMU Neurosciences), CHU Charles Foix [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)-CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Service de Pneumologie - R3S [CHU Pitié-Salpêtrière] (SPMIR-R3S), Département Médico-Universitaire réanimation anesthésie médecine péri-opératoire [Sorbonne Université] (DMU DREAM), CHU Tenon [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)-CHU Pitié-Salpêtrière [AP-HP], Groupe de recherche clinique en anesthésie réanimation médecine périopératoire [CHU Pitié-Salpétrière] (GRC ARPE), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Département de Biostatistique, Santé Publique et Information Médicale [CHU Pitié-Salpêtrière] (BIOSPIM ), Centre de référence des épilepsies rares [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-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)-Service de Neurologie [CHU Pitié-Salpêtrière], Cohort COVID-19 Neurosciences (CoCo Neurosciences) Study Group: Jean-Yves Delattre, Stephanie Carvalho, Sandrine Sagnes, Bruno Dubois, Celine Louapre, Tanya Stojkovic, Ahmed Idbaih, Charlotte Rosso, David Grabli, Ana Zenovia Gales, Bruno Millet, Eleonore Bayen, Sophie Dupont, Gaelle Bruneteau, Stephane Lehericy, Danielle Seilhean, Alexandra Durr, Aurelie Kas, Foudil Lamari, Marion Houot, Vanessa Batista Brochard, Pascale Pradat-Diehl, Khe Hoang-Xuan, Bertrand Fontaine, Philippe Fossati, Isabelle Arnulf, Alexandre Carpentier, Yved Edel, Anna Luisa Di Stefano, Gilberte Robain, Philippe Thoumie, Bertrand Degos, Tarek Sharshar, Sonia Alamowitch, Emmanuelle Apartis-Bourdieu, Charles-Siegried Peretti, Renata Ursu, Nathalie Dzierzynski, Kiyoka Kinugawa Bourron, Joel Belmin, Bruno Oquendo, Eric Pautas, Marc Verny, Yves Samson, Sara Leder, Anne Leger, Sandrine Deltour, Flore Baronnet, Stéphanie Bombois, Mehdi Touat, Caroline Dehais, Caroline Houillier, Florence Laigle-Donadey, Dimitri Psimaras, Agusti Alentorn, Nadia Younan, Nicolas Villain, Maria Del Mar Amador, Louise-Laure Mariani, Nicolas Mezouar, Graziella Mangone, Aurélie Meneret, Andreas Hartmann, Clément Tarrano, David Bendetowicz, Pierre-Francois Pradat, Michel Baulac, Sara Sambin, Florence Chochon, Adele Hesters, Bastien Herlin, An Hung Nguyen, Valérie Procher, Alexandre Demoule, Julien Mayaux, Morgane Faure, Claire Ewenczyk, Giulia Coarelli, Anna Heinzmann, Perrine Charles, Marion Masingue, Guillaume Bassez, Isabelle An, Yulia Worbe, Rabab Debs, Timothee Lenglet, Natalia Shor, Delphine Leclercq, Albert Cao, Clémence Marois, Nicolas Weiss, Loic Le Guennec, Vincent Degos, Alice Jacquens, Thomas Similowski, Jean-Yves Rotge, Bertrand Saudreau, Victor Pitron, Nassim Sarni, Nathalie Girault, Redwan Maatoug, Smaranda Leu, Lionel Thivart, Karima Mokhtari, Isabelle Plu, Bruno Goncalves, Laure Bottin, Marion Yger, Gaelle Ouvrard, Rebecca Haddad, Flora Ketz, Carmelo Lafuente, Christel Oasi, Bruno Megarbane, Dominique Herve, Haysam Salman, Armelle Rametti-Lacroux, Alize Chalancon, Anais Herve, Hugo Royer, Florence Beauzor, Valentine Maheo, Christelle Laganot, Camille Minelli, Aurélie Fekete, Abel Grine, Marie Biet, Rania Hilab, Aurore Besnard, Meriem Bouguerra, Gwen Goudard, Saida Houairi, Saba Al-Youssef, Christine Pires, Anissa Oukhedouma, Katarzyna Siuda-Krzywicka, Tal Seidel Malkinson, Hanane Agguini, Hassen Douzane Agguini, Safia Said, Raux, Mathieu, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), and HAL-SU, Gestionnaire
Subjects: Male, [SDV.MHEP.ME] Life Sciences [q-bio]/Human health and pathology/Emerging diseases, Brain Diseases, [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, SARS-CoV-2, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, Research, [SDV]Life Sciences [q-bio], COVID-19, Electroencephalography, Middle Aged, Magnetic Resonance Imaging, Cohort Studies, [SDV] Life Sciences [q-bio], Online Only, [SDV.IB.IMA] Life Sciences [q-bio]/Bioengineering/Imaging, Infectious Diseases, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Electronic Health Records, Humans, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Original Investigation
Abstract: Key Points Question Can electroencephalography (EEG), combined with clinical, biological, and magnetic resonance imaging (MRI) analyses, help to better characterize patients with neurologic coronavirus disease 2019 (COVID-19) and diagnose specific COVID-19–related encephalopathy? Findings Neurologic manifestations, biological findings, EEG findings, and brain MRI images were analyzed in a cohort study of 78 adult patients with COVID-19. Nine patients had no identified cause of brain injury, as revealed by biological and MRI findings; their injury was defined as COVID-19–related encephalopathy. Meaning This study suggests that, although neurologic manifestations, EEG findings, and MRI findings may appear heterogeneous and nonspecific, multimodal monitoring may better identify patients with COVID-19–related encephalopathy and guide treatment strategy., Importance There is evidence of central nervous system impairments associated with coronavirus disease 2019 (COVID-19) infection, including encephalopathy. Multimodal monitoring of patients with COVID-19 may delineate the specific features of COVID-19–related encephalopathy and guide clinical management. Objectives To investigate clinical, biological, and brain magnetic resonance imaging (MRI) findings in association with electroencephalographic (EEG) features for patients with COVID-19, and to better refine the features of COVID-19–related encephalopathy. Design, Setting, and Participants This retrospective cohort study conducted in Pitié-Salpêtrière Hospital, Paris, France, enrolled 78 hospitalized adults who received a diagnosis of severe acute respiratory syndrome coronavirus 2 (SARS-Cov2) and underwent EEG between March 30 and June 11, 2020. Exposures Detection of SARS-CoV-2 from a nasopharyngeal specimen using a reverse transcription–polymerase chain reaction assay or, in the case of associated pneumonia, on a computed tomography scan of the chest. Main Outcomes and Measures Data on the clinical and paraclinical features of the 78 patients with COVID-19 were retrieved from electronic patient records. Results Of 644 patients who were hospitalized for COVID-19, 78 (57 men [73%]; mean [SD] age, 61 [12] years) underwent EEG. The main indications for EEG were delirium, seizure-like events, and delayed awakening in the intensive care unit after stopping treatment with sedatives. Sixty-nine patients showed pathologic EEG findings, including metabolic-toxic encephalopathy features, frontal abnormalities, periodic discharges, and epileptic activities. Of 57 patients who underwent brain MRI, 41 showed abnormalities, including perfusion abnormalities, acute ischemic lesions, multiple microhemorrhages, and white matter–enhancing lesions. Fifty-five patients showed biological abnormalities, including dysnatremia, kidney failure, and liver dysfunction, the same day as the EEG. The results of cerebrospinal fluid analysis were negative for SARS-Cov-2 for all tested patients. Nine patients who had no identifiable cause of brain injury outside COVID-19 were further isolated; their brain injury was defined as COVID-19–related encephalopathy. They represented 1% (9 of 644) of patients with COVID-19 requiring hospitalization. Six of these 9 patients had movement disorders, 7 had frontal syndrome, 4 had brainstem impairment, 4 had periodic EEG discharges, and 3 had MRI white matter–enhancing lesions. Conclusions and Relevance The results from this cohort of patients hospitalized with COVID-19 suggest there are clinical, EEG, and MRI patterns that could delineate specific COVID-19–related encephalopathy and guide treatment strategy., This cohort study investigates clinical, biological, and brain magnetic resonance imaging (MRI) findings in association with electroencephalographic (EEG) features for patients with coronavirus disease 2019 (COVID-19) and refines the features of COVID-19–related encephalopathy.
Published: 2021
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