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3. International retrospective natural history study of LMNA-related congenital muscular dystrophy

Author

Yaou, Rabah Ben, Yun, Pomi, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D’Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin S, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique M, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Francesco, Muntoni F, Pierson, Tyler M, Gómez-Andrés, David, Foley, A Reghan, Quijano-Roy, Susana, Bönnemann, Carsten G, and Bonne, Gisèle

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Genetics, Cardiovascular, Clinical Research, Pediatric, Muscular Dystrophy, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Musculoskeletal, laminopathies, striated muscle, LMNA, early onset, muscular dystrophy, Clinical sciences, Neurosciences, Biological psychology
Abstract

Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group. We designed a large international cross-sectional retrospective natural history study of patients with genetically proven muscle laminopathy who presented with symptoms before two years of age intending to identify and characterize an optimal clinical trial cohort with pertinent motor, cardiac and respiratory endpoints. Quantitative statistics were used to evaluate associations between LMNA variants and distinct clinical events. The study included 151 patients (median age at symptom onset 0.9 years, range: 0.0-2.0). Age of onset and age of death were significantly lower in patients who never acquired independent ambulation compared to patients who achieved independent ambulation. Most of the patients acquired independent ambulation (n = 101, 66.9%), and subsequently lost this ability (n = 86; 85%). The age of ambulation acquisition (median: 1.2 years, range: 0.8-4.0) and age of ambulation loss (median: 7 years, range: 1.2-38.0) were significantly associated with the age of the first respiratory interventions and the first cardiac symptoms. Respiratory and gastrointestinal interventions occurred during first decade while cardiac interventions occurred later. Genotype-phenotype analysis showed that the most common mutation, p.Arg249Trp (20%), was significantly associated with a more severe disease course. This retrospective natural history study of early onset LMNA-related muscular dystrophy confirms the progressive nature of the disorder, initially involving motor symptoms prior to onset of other symptoms (respiratory, orthopaedic, cardiac and gastrointestinal). The study also identifies subgroups of patients with a range of long-term outcomes. Ambulatory status was an important mean of stratification along with the presence or absence of the p.Arg249Trp mutation. These categorizations will be important for future clinical trial cohorts. Finally, this study furthers our understanding of the progression of early onset LMNA-related muscular dystrophy and provides important insights into the anticipatory care needs of LMNA-related respiratory and cardiac manifestations.

Published
2021

4. International retrospective natural history study of LMNA-related congenital muscular dystrophy.

Author

Ben Yaou, Rabah, Yun, Pomi, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D'Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin S, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique M, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Muntoni, Francesco, Pierson, Tyler M, Gómez-Andrés, David, Reghan Foley, A, Quijano-Roy, Susana, Bönnemann, Carsten G, and Bonne, Gisèle

Subjects
LMNA, early onset, laminopathies, muscular dystrophy, striated muscle
Abstract

Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group. We designed a large international cross-sectional retrospective natural history study of patients with genetically proven muscle laminopathy who presented with symptoms before two years of age intending to identify and characterize an optimal clinical trial cohort with pertinent motor, cardiac and respiratory endpoints. Quantitative statistics were used to evaluate associations between LMNA variants and distinct clinical events. The study included 151 patients (median age at symptom onset 0.9 years, range: 0.0-2.0). Age of onset and age of death were significantly lower in patients who never acquired independent ambulation compared to patients who achieved independent ambulation. Most of the patients acquired independent ambulation (n = 101, 66.9%), and subsequently lost this ability (n = 86; 85%). The age of ambulation acquisition (median: 1.2 years, range: 0.8-4.0) and age of ambulation loss (median: 7 years, range: 1.2-38.0) were significantly associated with the age of the first respiratory interventions and the first cardiac symptoms. Respiratory and gastrointestinal interventions occurred during first decade while cardiac interventions occurred later. Genotype-phenotype analysis showed that the most common mutation, p.Arg249Trp (20%), was significantly associated with a more severe disease course. This retrospective natural history study of early onset LMNA-related muscular dystrophy confirms the progressive nature of the disorder, initially involving motor symptoms prior to onset of other symptoms (respiratory, orthopaedic, cardiac and gastrointestinal). The study also identifies subgroups of patients with a range of long-term outcomes. Ambulatory status was an important mean of stratification along with the presence or absence of the p.Arg249Trp mutation. These categorizations will be important for future clinical trial cohorts. Finally, this study furthers our understanding of the progression of early onset LMNA-related muscular dystrophy and provides important insights into the anticipatory care needs of LMNA-related respiratory and cardiac manifestations.

Published
2021

5. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

Author

Quijano-Roy, Susana, Haberlova, Jana, Castiglioni, Claudia, Vissing, John, Munell, Francina, Rivier, François, Stojkovic, Tanya, Malfatti, Edoardo, Gómez García de la Banda, Marta, Tasca, Giorgio, Costa Comellas, Laura, Benezit, Audrey, Amthor, Helge, Dabaj, Ivana, Gontijo Camelo, Clara, Laforêt, Pascal, Rendu, John, Romero, Norma B., Cavassa, Eliana, Fattori, Fabiana, Beroud, Christophe, Zídková, Jana, Leboucq, Nicolas, Løkken, Nicoline, Sanchez-Montañez, Ángel, Ortega, Ximena, Kynčl, Martin, Metay, Corinne, Gómez-Andrés, David, and Carlier, Robert Y.

Published
2022
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6. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, Jr, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Published
2022
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9. Diaphragmatic dysfunction in SEPN1-related myopathy

Author

Caggiano, Serena, Khirani, Sonia, Dabaj, Ivana, Cavassa, Eliana, Amaddeo, Alessandro, Arroyo, Jorge Olmo, Desguerre, Isabelle, Richard, Pascale, Cutrera, Renato, Ferreiro, Ana, Estournet, Brigitte, Quijano-Roy, Susana, and Fauroux, Brigitte

Published
2017
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11. Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Author

Wahbi, Karim, Ben Yaou, Rabah, Gandjbakhch, Estelle, Anselme, Frédéric, Gossios, Thomas, Lakdawala, Neal K., Stalens, Caroline, Sacher, Frédéric, Babuty, Dominique, Trochu, Jean-Noel, Moubarak, Ghassan, Savvatis, Kostantinos, Porcher, Raphaël, Laforêt, Pascal, Fayssoil, Abdallah, Marijon, Eloi, Stojkovic, Tanya, Béhin, Anthony, Leonard-Louis, Sarah, Sole, Guilhem, Labombarda, Fabien, Richard, Pascale, Metay, Corinne, Quijano-Roy, Susana, Dabaj, Ivana, Klug, Didier, Vantyghem, Marie-Christine, Chevalier, Philippe, Ambrosi, Pierre, Salort, Emmanuelle, Sadoul, Nicolas, Waintraub, Xavier, Chikhaoui, Khadija, Mabo, Philippe, Combes, Nicolas, Maury, Philippe, Sellal, Jean-Marc, Tedrow, Usha B., Kalman, Jonathan M., Vohra, Jitendra, Androulakis, Alexander F.A., Zeppenfeld, Katja, Thompson, Tina, Barnerias, Christine, Bécane, Henri-Marc, Bieth, Eric, Boccara, Franck, Bonnet, Damien, Bouhour, Françoise, Boulé, Stéphane, Brehin, Anne-Claire, Chapon, Françoise, Cintas, Pascal, Cuisset, Jean-Marie, Davy, Jean-Marc, De Sandre-Giovannoli, Annachiara, Demurger, Florence, Desguerre, Isabelle, Dieterich, Klaus, Durigneux, Julien, Echaniz-Laguna, Andoni, Eschalier, Romain, Ferreiro, Ana, Ferrer, Xavier, Francannet, Christine, Fradin, Mélanie, Gaborit, Bénédicte, Gay, Arnaud, Hagège, Albert, Isapof, Arnaud, Jeru, Isabelle, Juntas Morales, Raul, Lagrue, Emmanuelle, Lamblin, Nicolas, Lascols, Olivier, Laugel, Vincent, Lazarus, Arnaud, Leturcq, France, Levy, Nicolas, Magot, Armelle, Manel, Véronique, Martins, Raphaël, Mayer, Michèle, Mercier, Sandra, Meune, Christophe, Michaud, Maud, Minot-Myhié, Marie-Christine, Muchir, Antoine, Nadaj-Pakleza, Aleksandra, Péréon, Yann, Petiot, Philippe, Petit, Florence, Praline, Julien, Rollin, Anne, Sabouraud, Pascal, Sarret, Catherine, Schaeffer, Stéphane, Taithe, Frederic, Tard, Céline, Tiffreau, Vincent, Toutain, Annick, Vatier, Camille, Walther-Louvier, Ulrike, Eymard, Bruno, Charron, Philippe, Vigouroux, Corinne, Bonne, Gisèle, Kumar, Saurabh, Elliott, Perry, and Duboc, Denis

Published
2019
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12. Characterization of cardiac involvement in children with LMNA-related muscular dystrophy

Author

Cesar, Sergi, primary, Campuzano, Oscar, additional, Cruzalegui, Jose, additional, Fiol, Victori, additional, Moll, Isaac, additional, Martínez-Barrios, Estefania, additional, Zschaeck, Irene, additional, Natera-de Benito, Daniel, additional, Ortez, Carlos, additional, Carrera, Laura, additional, Expósito, Jessica, additional, Berrueco, Rubén, additional, Bautista-Rodriguez, Carles, additional, Dabaj, Ivana, additional, Gómez García-de-la-Banda, Marta, additional, Quijano-Roy, Susana, additional, Brugada, Josep, additional, Nascimento, Andrés, additional, and Sarquella-Brugada, Georgia, additional

Published
2023
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16. Expérience de l’utilisation des corticoïdes dans les laminopathies de l’enfant

Author

García-Uzquiano, Rocio, Gómez-García de la Banda, Marta, Le Goff, Laure, Manel, Véronique, Dabaj, Ivana, Mercier, Sandra, Ben Yaou, Rabah, Bonne, Gisèle, Carlier Y, Robert, Quijano-Roy, Susana, Service de Pédiatrie, CHU Raymond Poincaré, APHP, Université Paris Saclay/UFR Sciences de la santé-Université de Versailles Saint Quentin en Yvelines, Garches, France., Hospices Civils de Lyon (HCL), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hôpital Raymond Poincaré [AP-HP], Cancer and Brain Genomics (CBG), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Radiologie et Imagerie MeŽdicale, HoÆpital Raymond PoincareŽ (Assistance Publique, Hôpitaux de Paris), Garches, France, parent, Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), and Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
[SDV]Life Sciences [q-bio]
Abstract

Introduction : Les atteintes musculaires par mutation du gène LMNA ont un spectre large, avec des formes congénitales (L-CMD) et des formes plus tardives de type Emery Dreifus (EDMD) et proximales non rétractiles. L’évolution des L-CMD est rapidement progressive, commençant par une faiblesse cervico-axiale (Syndrome, de la tête tombante ou dropped head dyndrome DHS), puis des extrémités et des muscles respiratoires, pouvant associer une atteinte cardiaque. Le traitement par corticoïdes a été suggéré en raison de signes inflammatoires observés sur la biopsie musculaire. Méthodes : Étude rétrospective des enfants atteints de myopathie par mutations de LMNA traités par corticoïdes au moins un an dans trois centres français. Les données génétiques, phénotypiques, d’évolution clinique (motrice respiratoire, cardiologique) et des tests complémentaires (biopsie, imagerie musculaire, biochimiques) ont été recueillies.Résultats : 7 enfants (6 DHS, 1 EDMD) ont été traités avec prednisone à 0.75 mg/Kg jour à un âge moyen de 4 ans (2-8) pendant 3 ans (1-7). Tous portaient une mutation de novo du gène LMNA. Des signes inflammatoires étaient observés chez tous les enfants sur biopsie (2) ou IRM musculaire corps entier (5). Trois patients qui n’avaient jamais marché ont acquis la marche après le traitement, dont un avec appui (2 semaines- 1 an). Un patient qui avait perdu la marche l’a récupéré deux ans après le début des corticoïdes. Les 2 patients DHS ambulatoires avant traitement sont restés stables (1-3 ans). Les corticoïdes étaient arrêtés chez le patient EDMD après trois ans de traitement devant une perte de périmètre de marche et une aggravation cardiaque. Conclusion: Le traitement par corticoïdes pourrait être bénéfique chez les jeunes enfants avec mutations dans le gène LMNA, en particulier ceux avec phénotype DHS traités avant l'âge de quatre ans. L’IRM musculaire pourrait être utile comme méthode non invasive pour évaluer la présence d’inflammation avant traitement et dans l’évolution.

Published
2023

17. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Author

Schartner, Vanessa, Romero, Norma B., Donkervoort, Sandra, Treves, Susan, Munot, Pinki, Pierson, Tyler Mark, Dabaj, Ivana, Malfatti, Edoardo, Zaharieva, Irina T., Zorzato, Francesco, Abath Neto, Osorio, Brochier, Guy, Lornage, Xavière, Eymard, Bruno, Taratuto, Ana Lía, Böhm, Johann, Gonorazky, Hernan, Ramos-Platt, Leigh, Feng, Lucy, Phadke, Rahul, Bharucha-Goebel, Diana X., Sumner, Charlotte Jane, Bui, Mai Thao, Lacene, Emmanuelle, Beuvin, Maud, Labasse, Clémence, Dondaine, Nicolas, Schneider, Raphael, Thompson, Julie, Boland, Anne, Deleuze, Jean-François, Matthews, Emma, Pakleza, Aleksandra Nadaj, Sewry, Caroline A., Biancalana, Valérie, Quijano-Roy, Susana, Muntoni, Francesco, Fardeau, Michel, Bönnemann, Carsten G., and Laporte, Jocelyn

Published
2017
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18. Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications

Author

Deshwar, Ashish R, primary, Cytrynbaum, Cheryl, additional, Murthy, Harsha, additional, Zon, Jessica, additional, Chitayat, David, additional, Volpatti, Jonathan, additional, Newbury-Ecob, Ruth, additional, Ellard, Sian, additional, Allen, Hana Lango, additional, Yu, Emily P, additional, Noche, Ramil, additional, Walker, Suzi, additional, Scherer, Stephen W, additional, Mahida, Sonal, additional, Elitt, Christopher M, additional, Nicolas, Gaël, additional, Goldenberg, Alice, additional, Saugier-Veber, Pascale, additional, Lecoquierre, Francois, additional, Dabaj, Ivana, additional, Meddaugh, Hannah, additional, Marble, Michael, additional, Keppler-Noreuil, Kim M, additional, Drayson, Lucy, additional, Barañano, Kristin W, additional, Chassevent, Anna, additional, Agre, Katie, additional, Létard, Pascaline, additional, Bilan, Frederic, additional, Le Guyader, Gwenaël, additional, Laquerrière, Annie, additional, Ramsey, Keri, additional, Henderson, Lindsay, additional, Brady, Lauren, additional, Tarnopolsky, Mark, additional, Bainbridge, Matthew, additional, Friedman, Jennifer, additional, Capri, Yline, additional, Athayde, Larissa, additional, Kok, Fernando, additional, Gurgel-Giannetti, Juliana, additional, Ramos, Luiza L P, additional, Blaser, Susan, additional, Dowling, James J, additional, and Weksberg, Rosanna, additional

Published
2022
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19. Le Double Cursus Santé Sciences à l’UFR Santé de Rouen

Author

Dabaj, Ivana, primary, Lahmar, Imran, additional, Gomez, Anaëlle, additional, Barbey, Léo, additional, Verdier, Antonin, additional, Delage, Colombe, additional, Galateau, Eva, additional, Aubert, Raphaël, additional, Gehanno, Alexandre, additional, Schaal, Pauline, additional, Feldmann, Lea, additional, Tebani, Abdellah, additional, Estour, François, additional, and Bekri, Soumeya, additional

Published
2022
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21. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies:a large international cohort

Author

Quijano-Roy, Susana, Haberlova, Jana, Castiglioni, Claudia, Vissing, John, Munell, Francina, Rivier, François, Stojkovic, Tanya, Malfatti, Edoardo, Gómez García de la Banda, Marta, Tasca, Giorgio, Costa Comellas, Laura, Benezit, Audrey, Amthor, Helge, Dabaj, Ivana, Gontijo Camelo, Clara, Laforêt, Pascal, Rendu, John, Romero, Norma B., Cavassa, Eliana, Fattori, Fabiana, Beroud, Christophe, Zídková, Jana, Leboucq, Nicolas, Løkken, Nicoline, Sanchez-Montañez, Ángel, Ortega, Ximena, Kynčl, Martin, Metay, Corinne, Gómez-Andrés, David, Carlier, Robert Y., Quijano-Roy, Susana, Haberlova, Jana, Castiglioni, Claudia, Vissing, John, Munell, Francina, Rivier, François, Stojkovic, Tanya, Malfatti, Edoardo, Gómez García de la Banda, Marta, Tasca, Giorgio, Costa Comellas, Laura, Benezit, Audrey, Amthor, Helge, Dabaj, Ivana, Gontijo Camelo, Clara, Laforêt, Pascal, Rendu, John, Romero, Norma B., Cavassa, Eliana, Fattori, Fabiana, Beroud, Christophe, Zídková, Jana, Leboucq, Nicolas, Løkken, Nicoline, Sanchez-Montañez, Ángel, Ortega, Ximena, Kynčl, Martin, Metay, Corinne, Gómez-Andrés, David, and Carlier, Robert Y.

Abstract

Background: LAMA2-related muscular dystrophy (LAMA2-RD) encompasses a group of recessive muscular dystrophies caused by mutations in the LAMA2 gene, which codes for the alpha-2 chain of laminin-211 (merosin). Diagnosis is straightforward in the classic congenital presentation with no ambulation and complete merosin deficiency in muscle biopsy, but is far more difficult in milder ambulant individuals with partial merosin deficiency. Objective: To investigate the diagnostic utility of muscle imaging in LAMA2-RD using whole-body magnetic resonance imaging (WBMRI). Results: 27 patients (2–62 years, 21–80% with acquisition of walking ability and 6 never ambulant) were included in an international collaborative study. All carried two pathogenic mutations, mostly private missense changes. An intronic variant (c.909 + 7A > G) was identified in all the Chilean cases. Three patients (two ambulant) showed intellectual disability, epilepsy, and brain structural abnormalities. WBMRI T1w sequences or T2 fat-saturated images (Dixon) revealed abnormal muscle fat replacement predominantly in subscapularis, lumbar paraspinals, gluteus minimus and medius, posterior thigh (adductor magnus, biceps femoris, hamstrings) and soleus. This involvement pattern was consistent for both ambulant and non-ambulant patients. The degree of replacement was predominantly correlated to the disease duration, rather than to the onset or the clinical severity. A “COL6-like sandwich sign” was observed in several muscles in ambulant adults, but different involvement of subscapularis, gluteus minimus, and medius changes allowed distinguishing LAMA2-RD from collagenopathies. The thigh muscles seem to be the best ones to assess disease progression. Conclusion: WBMRI in LAMA2-RD shows a homogeneous pattern of brain and muscle imaging, representing a supportive diagnostic tool.

Published
2022

22. Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Author

Deshwar, Ashish R, Cytrynbaum, Cheryl, Murthy, Harsha, Zon, Jessica, Chitayat, David, Volpatti, Jonathan, Newbury-Ecob, Ruth, Ellard, Sian, Allen, Hana Lango, Yu, Emily P, Noche, Ramil, Walker, Suzi, Scherer, Stephen W, Mahida, Sonal, Elitt, Christopher M, Nicolas, Gaël, Goldenberg, Alice, Saugier-Veber, Pascale, Lecoquierre, Francois, and Dabaj, Ivana

Subjects
BLOOD-brain barrier, CALCIFICATION, MICROCEPHALY, CEREBRAL atrophy, GENETIC variation, EPILEPSY, PARTIAL epilepsy
Abstract

The blood–brain barrier ensures CNS homeostasis and protection from injury. Claudin-5 (CLDN5), an important component of tight junctions, is critical for the integrity of the blood–brain barrier. We have identified de novo heterozygous missense variants in CLDN5 in 15 unrelated patients who presented with a shared constellation of features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern of pontine atrophy and brain calcifications. All variants clustered in one subregion/domain of the CLDN5 gene and the recurrent variants demonstrate genotype–phenotype correlations. We modelled both patient variants and loss of function alleles in the zebrafish to show that the variants analogous to those in patients probably result in a novel aberrant function in CLDN5. In total, human patient and zebrafish data provide parallel evidence that pathogenic sequence variants in CLDN5 cause a novel neurodevelopmental disorder involving disruption of the blood–brain barrier and impaired neuronal function. [ABSTRACT FROM AUTHOR]

Published
2023
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23. Additional file 5 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 5: Table S2. Seizure and seizure-like episodes in affected individuals with at least one afebrile seizure.

Published
2022
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24. Additional file 6 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 6: Figure S1. TASK3 conformational changes define PC motions and channel gating. Figure S2. Detailed view of the TASK3 selectivity filter and surrounding residues. Figure S3. Distributions of K+ ions for selected positions along the transport process, and across variants. Figure S4. Genomic variants lead to changes in K+ concentration at the selectivity filter. Figure S5. Cellular localization of labelled TASK3 variants. Figure S6. Comparison of whole cell current density for Tyr205Cys in the presence of various cysteine-modifying agents.

Published
2022
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25. Additional file 1 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 1: Supplementary Note. Clinical Histories. Written clinical histories including genetic testing for each novel family in this study. Molecular Modeling Reveals Mutation-Specific Effects on Channel Mechanics. Molecular Dynamics Simulations Show Changes in Potassium Ion Distribution.

Published
2022
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26. Additional file 9 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 9: Table S5. A comparison of GPCRs regulation between TASK3 clinical variants and WT controls.

Published
2022
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27. Additional file 7 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 7: Table S3. A comparison of whole cell current density and reversal potentials between TASK3 clinical variants and matched WT controls.

Published
2022
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28. Additional file 8 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 8: Table S4. A comparison of inhibition by extracellular acidification (pH 6.4) between TASK3 clinical variants and WT controls.

Published
2022
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29. Cerebral Palsy in Very Preterm Infants: A Nine-Year Prospective Study in a French Population-Based Tertiary Center

Author

Chollat, Clément, primary, Bertrand, Emmanuelle, additional, Petit-Ledo, Alice, additional, de Vansay, Caroline, additional, Voisin, Caroline, additional, Dabaj, Ivana, additional, Gillibert, André, additional, Marret, Stéphane, additional, Lévêque, C., additional, Simenel, J.-L., additional, Pauthier, S., additional, Levavasseur, C., additional, Pop, I., additional, Grancher, N., additional, Lefebure, A., additional, Vittecoq, C., additional, Dabbagh, D., additional, Machevin, E., additional, Levy, M., additional, Taleb, F., additional, Lahrach, H., additional, Rhali, H., additional, Richet, B., additional, Delaunay, F., additional, Bruel, H., additional, Selim, A., additional, Jaffray, M., additional, Durand-Réville, M., additional, Sarreau, C., additional, Celik, S., additional, Le Digabel, J.-F., additional, Stoller, J., additional, Muszynski, H., additional, Rouha, M., additional, Verspyck, E., additional, Chadi, A., additional, and Lardennois, C., additional

Published
2021
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30. International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history

Author

Ben Yaou, Rabah, Yun, Pomi, D’Amico, Adele, Francesco, Muntoni, Bönnemann, Carsten, Yaou, Rabah, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D'Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Muntoni, Francesco, Pierson, Tyler, GóMez-Andrés, David, Foley, A Reghan, Quijano-Roy, Susana, Bonne, Gisèle, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), National Institute of Neurological Disorders and Stroke [Bethesda] (NINDS), National Institutes of Health [Bethesda] (NIH), Hôpital Raymond Poincaré [AP-HP], Peking University [Beijing], Institut de Recerca Pediàtrica Hospital Sant Joan de Déu [Barcelona, Spain], Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Department of Neurology, Great Ormond Street Hospital for Children [London] (GOSH), Hospital Nacional de Pediatría J.P. Garrahan, Newcastle Upon Tyne Hospitals NHS Foundation Trust, National Center of Neurology and Psychiatry, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Filière Neuromusculaire (FILNEMUS), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de chirurgie pédiatrique [CHU Strasbourg], Les Hôpitaux Universitaires de Strasbourg (HUS), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Universitaire de Reims (CHU Reims), and Centre de Recherche en Myologie

Subjects
muscular dystrophy, Laminopathies, striated muscle, early onset, [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], LMNA
Abstract

International audience; Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group. We designed a large international cross-sectional retrospective natural history study of patients with genetically proven muscle laminopathy who presented with symptoms before two years of age intending to identify and characterize an optimal clinical trial cohort with pertinent motor, cardiac and respiratory endpoints. Quantitative statistics were used to evaluate associations between LMNA variants and distinct clinical events. The study included 151 patients (Median age at symptom onset 0.9 years, range: 0.0-2.0). Age of onset and age of death were significantly lower in patients who never aquired independent ambulation compared to patients who achieved independent ambulation. Most of the patients acquired independent ambulation (n = 101, 66.9%), and subsequently lost this ability (n = 86; 85%). The age of ambulation acquisition (Median: 1.2 years, range: 0.8-4.0) and age of ambulation loss (Median: 7 years, range 1.2-38.0) were significantly associated with the age of the first respiratory interventions and the first cardiac symptoms. Respiratory and gastrointestinal interventions occurred during first decade while cardiac interventions occurred later. Genotype-phenotype analysis showed that the most common mutation, p.Arg249Trp (20%), was significantly associated with a more severe disease course. This retrospective natural history study of early onset LMNA-related muscular dystrophy confirms the progressive nature of the disorder, initially involving motor symptoms prior to onset of other symptoms (respiratory, orthopedic, cardiac, and gastrointestinal). The study also identifies subgroups of patients with a range of long-term outcomes. Ambulatory status was an important mean of stratification along with the presence or absence of the p.Arg249Trp mutation. These categorizations will be important for future clinical trial cohorts. Finally, this study furthers our understanding of the progression of early onset LMNA-related muscular dystrophy and provides important insights into the anticipatory care needs of LMNA-related respiratory and cardiac manifestations.

Published
2021
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31. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

Author

Quijano-Roy, Susana, primary, Haberlova, Jana, additional, Castiglioni, Claudia, additional, Vissing, John, additional, Munell, Francina, additional, Rivier, François, additional, Stojkovic, Tanya, additional, Malfatti, Edoardo, additional, Gómez García de la Banda, Marta, additional, Tasca, Giorgio, additional, Costa Comellas, Laura, additional, Benezit, Audrey, additional, Amthor, Helge, additional, Dabaj, Ivana, additional, Gontijo Camelo, Clara, additional, Laforêt, Pascal, additional, Rendu, John, additional, Romero, Norma B., additional, Cavassa, Eliana, additional, Fattori, Fabiana, additional, Beroud, Christophe, additional, Zídková, Jana, additional, Leboucq, Nicolas, additional, Løkken, Nicoline, additional, Sanchez-Montañez, Ángel, additional, Ortega, Ximena, additional, Kynčl, Martin, additional, Metay, Corinne, additional, Gómez-Andrés, David, additional, and Carlier, Robert Y., additional

Published
2021
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32. An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency

Author

Boutouchent, Nassim, primary, Bourilhon, Julie, additional, Sudrié-Arnaud, Bénédicte, additional, Bonnevalle, Antoine, additional, Guyant-Maréchal, Lucie, additional, Acquaviva, Cécile, additional, Dujardin-Ippolito, Loréna, additional, Bekri, Soumeya, additional, Dabaj, Ivana, additional, and Tebani, Abdellah, additional

Published
2021
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33. Minimally Invasive Fusionless Surgery for Scoliosis in Spinal Muscular Atrophy

Author

Gaume, Mathilde, primary, Saudeau, Etienne, additional, Gomez-Garcia de la Banda, Marta, additional, Azzi-Salameh, Viviane, additional, Mbieleu, Blaise, additional, Verollet, Delphine, additional, Benezit, Audrey, additional, Bergounioux, Jean, additional, Essid, Aben, additional, Doehring, Isabelle, additional, Dabaj, Ivana, additional, Desguerre, Isabelle, additional, Barnerias, Christine, additional, Topouchian, Vicken, additional, Glorion, Christophe, additional, Quijano-Roy, Susana, additional, and Miladi, Lotfi, additional

Published
2021
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36. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

Author

Tebani, Abdellah, primary, Sudrié-Arnaud, Bénédicte, additional, Dabaj, Ivana, additional, Torre, Stéphanie, additional, Domitille, Laur, additional, Snanoudj, Sarah, additional, Heron, Benedicte, additional, Levade, Thierry, additional, Caillaud, Catherine, additional, Vergnaud, Sabrina, additional, Saugier-Veber, Pascale, additional, Coutant, Sophie, additional, Dranguet, Hélène, additional, Froissart, Roseline, additional, Al Khouri, Majed, additional, Alembik, Yves, additional, Baruteau, Julien, additional, Arnoux, Jean-Baptiste, additional, Brassier, Anais, additional, Brehin, Anne-Claire, additional, Busa, Tiffany, additional, Cano, Aline, additional, Chabrol, Brigitte, additional, Coubes, Christine, additional, Desguerre, Isabelle, additional, Doco-Fenzy, Martine, additional, Drenou, Bernard, additional, Elcioglu, Nursel H, additional, Elsayed, Solaf, additional, Fouilhoux, Alain, additional, Poirsier, Céline, additional, Goldenberg, Alice, additional, Jouvencel, Philippe, additional, Kuster, Alice, additional, Labarthe, François, additional, Lazaro, Leila, additional, Pichard, Samia, additional, Rivera, Serge, additional, Roche, Sandrine, additional, Roggerone, Stéphanie, additional, Roubertie, Agathe, additional, Sigaudy, Sabine, additional, Spodenkiewicz, Marta, additional, Tardieu, Marine, additional, Vanhulle, Catherine, additional, Marret, Stéphane, additional, and Bekri, Soumeya, additional

Published
2021
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37. NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation

Author

Dabaj, Ivana, primary, Sudrié-Arnaud, Bénédicte, additional, Lecoquierre, François, additional, Raymond, Kimiyo, additional, Ducatez, Franklin, additional, Guerrot, Anne-Marie, additional, Snanoudj, Sarah, additional, Coutant, Sophie, additional, Saugier-Veber, Pascale, additional, Marret, Stéphane, additional, Nicolas, Gaël, additional, Tebani, Abdellah, additional, and Bekri, Soumeya, additional

Published
2021
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38. Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel

Author

Sudrié-Arnaud, Bénédicte, primary, Snanoudj, Sarah, additional, Dabaj, Ivana, additional, Dranguet, Hélène, additional, Abily-Donval, Lenaig, additional, Lebas, Axel, additional, Vezain, Myriam, additional, Héron, Bénédicte, additional, Marie, Isabelle, additional, Duval-Arnould, Marc, additional, Marret, Stéphane, additional, Tebani, Abdellah, additional, and Bekri, Soumeya, additional

Published
2021
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39. Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen

Author

Gómez‐García de la Banda, Marta, primary, Amaddeo, Alessandro, additional, Khirani, Sonia, additional, Pruvost, Sandrine, additional, Barnerias, Christine, additional, Dabaj, Ivana, additional, Bénézit, Audrey, additional, Durigneux, Julien, additional, Carlier, Robert Y., additional, Desguerre, Isabelle, additional, Quijano‐Roy, Susana, additional, and Fauroux, Brigitte, additional

Published
2020
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40. Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up

Author

GóMez-Andrés, David, Diaz-Manera, Jordi, Alejaldre, Aida, Pulido-Valdeolivas, Irene, GonzáLez-mera, Laura, Olivé, Montse, José Vilchez, Juan, De Munain, Adolfo LóPez, Paradas, Carmen, Muelas, Nuria, SáNchez-MontáÑez, Ángel, Alonso-Jimenez, Alicia, De la banda, Marta Gómez García, Dabaj, Ivana, Bonne, Gisèle, Munell, Francina, Carlier, Robert, Quijano-Roy, Susana, Vall d'Hebron University Hospital [Barcelona], CIBER de Enfermedades Raras (CIBERER), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona (UB), Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III [Madrid] (ISC), Hospital Universitario Virgen del Rocío [Sevilla], Hôpital Raymond Poincaré [AP-HP], 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), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), 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), Gestionnaire, Hal Sorbonne Université, and Centre de Recherche en Myologie

Subjects
Adult, Male, Distròfia muscular, LMNA, machine learning, magnetic resonance, Adolescent, [SDV]Life Sciences [q-bio], LMNA, laminopathy, Statistics, Nonparametric, Cohort Studies, Muscular Atrophy, Spinal, magnetic resonance, Young Adult, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Child, Muscle, Skeletal, Aged, imaging, Extremities, Middle Aged, Muscular dystrophy, Magnetic Resonance Imaging, [SDV] Life Sciences [q-bio], Diagnòstic per la imatge, machine learning, Disease Progression, Diagnostic imaging, biomarker, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Tomography, X-Ray Computed
Abstract

International audience; INTRODUCTION:Particular fibroadipose infiltration patterns have been recently described by muscle imaging in congenital and later onset forms of LMNA-related muscular dystrophies (LMNA-RD).METHODS:Scores for fibroadipose infiltration of 23 lower limb muscles in 34 patients with LMNA-RD were collected from heat maps of 2 previous studies. Scoring systems were homogenized. Relationships between muscle infiltration and disease duration and age of onset were modeled with random forests.RESULTS:The pattern of infiltration differs according to disease duration but not to age of disease onset. The muscles whose progression best predicts disease duration were semitendinosus, biceps femoris long head, gluteus medius, and semimembranosus.DISCUSSION:In LMNA-RD, our synthetic analysis of lower limb muscle infiltration did not find major differences between forms with different ages of onset but allowed the identification of muscles with characteristic infiltration during disease progression. Monitoring of these specific muscles by quantitative MRI may provide useful imaging biomarkers in LMNA-RD. Muscle Nerve 58:812-817, 2018.

Published
2018
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42. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

Author

Tebani, Abdellah, Sudrié-Arnaud, Bénédicte, Dabaj, Ivana, Torre, Stéphanie, Domitille, Laur, Snanoudj, Sarah, Heron, Benedicte, Levade, Thierry, Caillaud, Catherine, Vergnaud, Sabrina, Saugier-Veber, Pascale, Coutant, Sophie, Dranguet, Hélène, Froissart, Roseline, Al Khouri, Majed, Alembik, Yves, Baruteau, Julien, Arnoux, Jean-Baptiste, Brassier, Anais, Brehin, Anne-Claire, Busa, Tiffany, Cano, Aline, Chabrol, Brigitte, Coubes, Christine, Desguerre, Isabelle, Doco-Fenzy, Martine, Drenou, Bernard, Elcioglu, Nursel H, Elsayed, Solaf, Fouilhoux, Alain, Poirsier, Céline, Goldenberg, Alice, Jouvencel, Philippe, Kuster, Alice, Labarthe, Francois, Lazaro, Leila, Pichard, Samia, Rivera, Serge, Roche, Sandrine, Roggerone, Stéphanie, Roubertie, Agathe, Sigaudy, Sabine, Spodenkiewicz, Marta, Tardieu, Marine, Vanhulle, Catherine, Marret, Stéphane, and Bekri, Soumeya

Abstract

IntroductionThis study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB).MethodsClinical and genetic data of 52 probands, 47 patients with GM1-gangliosidosis and 5 patients with MPSIVB were analysed.ResultsThe clinical presentations in patients with GM1-gangliosidosis are consistent with a phenotypic continuum ranging from a severe antenatal form with hydrops fetalis to an adult form with an extrapyramidal syndrome. Molecular studies evidenced 47 variants located throughout the sequence of the GLB1gene, in all exons except 7, 11 and 12. Eighteen novel variants (15 substitutions and 3 deletions) were identified. Several variants were linked specifically to early-onset GM1-gangliosidosis, late-onset GM1-gangliosidosis or MPSIVB phenotypes. This integrative molecular and clinical stratification suggests a variant-driven patient assignment to a given clinical and severity group.ConclusionThis study reports one of the largest series of b-GAL deficiency with an integrative patient stratification combining molecular and clinical features. This work contributes to expand the community knowledge regarding the molecular and clinical landscapes of b-GAL deficiency for a better patient management.

Published
2022
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44. Clinical and imaging hallmarks of the MYH7 ‐related myopathy with severe axial involvement

Author

Dabaj, Ivana, primary, Carlier, Robert Y, additional, Gómez‐Andrés, David, additional, Neto, Osório Abath, additional, Bertini, Enrico, additional, D'amico, Adele, additional, Fattori, Fabiana, additional, PéRéon, Yann, additional, Castiglioni, Claudia, additional, Rodillo, Eliana, additional, Catteruccia, Michela, additional, Guimarães, júlio Brandão, additional, Oliveira, Acary Souza Bulle, additional, Reed, Umbertina Conti, additional, Mesrob, Lilia, additional, Lechner, Doris, additional, Boland, Anne, additional, Deleuze, Jean‐François, additional, Malfatti, Edoardo, additional, Bonnemann, Carsten, additional, Laporte, Jocelyn, additional, Romero, Norma, additional, Felter, Adrien, additional, Quijano‐Roy, Susana, additional, Moreno, Cristiane Araújo Martins, additional, and Zanoteli, Edmar, additional

Published
2018
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46. ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto alpha-dystroglycan

Author

Gerin, Isabelle, Ury, Benoit, Breloy, Isabelle, Bouchet-Seraphin, Celine, Bolsee, Jennifer, Halbout, Mathias, Graff, Julie, Vertommen, Didier, Muccioli, Giulio G., Seta, Nathalie, Cuisset, Jean-Marie, Dabaj, Ivana, Quijano-Roy, Susana, Grahn, Ammi, Van Schaftingen, Emile, Bommer, Guido T., Gerin, Isabelle, Ury, Benoit, Breloy, Isabelle, Bouchet-Seraphin, Celine, Bolsee, Jennifer, Halbout, Mathias, Graff, Julie, Vertommen, Didier, Muccioli, Giulio G., Seta, Nathalie, Cuisset, Jean-Marie, Dabaj, Ivana, Quijano-Roy, Susana, Grahn, Ammi, Van Schaftingen, Emile, and Bommer, Guido T.

Abstract

Mutations in genes required for the glycosylation of alpha-dystroglycan lead to muscle and brain diseases known as dystroglycanopathies. However, the precise structure and biogenesis of the assembled glycan are not completely understood. Here we report that three enzymes mutated in dystroglycanopathies can collaborate to attach ribitol phosphate onto a-dystroglycan. Specifically, we demonstrate that isoprenoid synthase domain-containing protein (ISPD) synthesizes CDP-ribitol, present in muscle, and that both recombinant fukutin (FKTN) and fukutin-related protein (FKRP) can transfer a ribitol phosphate group from CDP-ribitol to alpha-dystroglycan. We also show that ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan in HEK293 cells. Glycosylation of alpha-dystroglycan in fibroblasts from patients with hypomorphic ISPD mutations is reduced. We observe that in some cases glycosylation can be partially restored by addition of ribitol to the culture medium, suggesting that dietary supplementation with ribitol should be evaluated as a therapy for patients with ISPD mutations.

Published
2016

47. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Author

Schartner, Vanessa, primary, Romero, Norma B., additional, Donkervoort, Sandra, additional, Treves, Susan, additional, Munot, Pinki, additional, Pierson, Tyler Mark, additional, Dabaj, Ivana, additional, Malfatti, Edoardo, additional, Zaharieva, Irina T., additional, Zorzato, Francesco, additional, Abath Neto, Osorio, additional, Brochier, Guy, additional, Lornage, Xavière, additional, Eymard, Bruno, additional, Taratuto, Ana Lía, additional, Böhm, Johann, additional, Gonorazky, Hernan, additional, Ramos-Platt, Leigh, additional, Feng, Lucy, additional, Phadke, Rahul, additional, Bharucha-Goebel, Diana X., additional, Sumner, Charlotte Jane, additional, Bui, Mai Thao, additional, Lacene, Emmanuelle, additional, Beuvin, Maud, additional, Labasse, Clémence, additional, Dondaine, Nicolas, additional, Schneider, Raphael, additional, Thompson, Julie, additional, Boland, Anne, additional, Deleuze, Jean-François, additional, Matthews, Emma, additional, Pakleza, Aleksandra Nadaj, additional, Sewry, Caroline A., additional, Biancalana, Valérie, additional, Quijano-Roy, Susana, additional, Muntoni, Francesco, additional, Fardeau, Michel, additional, Bönnemann, Carsten G., additional, and Laporte, Jocelyn, additional

Published
2016
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50. ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

Author

Gerin, Isabelle, primary, Ury, Benoît, additional, Breloy, Isabelle, additional, Bouchet-Seraphin, Céline, additional, Bolsée, Jennifer, additional, Halbout, Mathias, additional, Graff, Julie, additional, Vertommen, Didier, additional, Muccioli, Giulio G., additional, Seta, Nathalie, additional, Cuisset, Jean-Marie, additional, Dabaj, Ivana, additional, Quijano-Roy, Susana, additional, Grahn, Ammi, additional, Van Schaftingen, Emile, additional, and Bommer, Guido T., additional

Published
2016
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