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1. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe

Published
2023
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4. Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome

Author

Vanegas, Maria I., Marcé-Grau, Anna, Martí-Sánchez, Laura, Mellid, Sara, Baide-Mairena, Heidy, Correa-Vela, Marta, Cazurro, Anna, Rodríguez, Carla, Toledo, Laura, Fernández-Ramos, Joaquín Alejandro, Pons, Roser, Aguilera-Albesa, Sergio, Martí, Maria José, Eiris, Jesús, Iglesias, Gema, De Fabregues, Oriol, Maqueda, Elena, Garriz-Luis, Maite, Madruga, Marcos, Espinós, Carmen, Macaya, Alfons, Cabrera, José Carlos, and Pérez-Dueñas, Belén

Published
2020
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5. Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1

Author

van Kuilenburg, André B. P., Meijer, Judith, Meinsma, Rutger, Pérez-Dueñas, Belén, Alders, Marielle, Bhuiyan, Zahurul A., Artuch, Rafael, Hennekam, Raoul C. M., Baumgartner, Matthias, Series Editor, Patterson, Marc, Series Editor, Rahman, Shamima, Series Editor, Peters, Verena, Series Editor, Morava, Eva, Editor-in-Chief, and Zschocke, Johannes, Series Editor

Published
2019
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6. The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center

Author

Zouvelou, Vasiliki, Yubero, Delia, Apostolakopoulou, Loukia, Kokkinou, Eleftheria, Bilanakis, Manolis, Dalivigka, Zoi, Nikas, Ioannis, Kollia, Elissavet, Perez-Dueñas, Belen, Macaya, Alfons, Marcé-Grau, Anna, Voutetakis, Antonis, Anagnostopoulou, Katerina, Kekou, Kiriaki, Sofocleus, Christalena, Veltra, Danae, Kokkinis, Xaralabos, Fryssira, Helen, Torres, Rosa J., Amstrong, Judith, Santorelli, Filippo M., Artuch, Rafael, and Pons, Roser

Published
2019
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7. PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression

Author

Darling, Alejandra, Aguilera-Albesa, Sergio, Tello, Cristina Aisha, Serrano, Mercedes, Tomás, Miguel, Camino-León, Rafael, Fernández-Ramos, Joaquín, Jiménez-Escrig, Adriano, Poó, Pilar, O'Callaghan, Mar, Ortez, Carlos, Nascimento, Andrés, Fernández Mesaque, Ramón Candau, Madruga, Marcos, Arrabal, Luisa, Roldan, Susana, Gómez-Martín, Hilario, Garrido, Cristina, Temudo, Teresa, Jou-Muñoz, Cristina, Muchart, Jordi, Huisman, Thierry A.G.M., Poretti, Andrea, Lupo, Vincenzo, Espinós, Carmen, and Pérez-Dueñas, Belén

Published
2019
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8. Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases

Author

Molero-Luis, Marta, Casas-Alba, Didac, Orellana, Gabriela, Ormazabal, Aida, Sierra, Cristina, Oliva, Clara, Valls, Anna, Velasco, Jesus, Launes, Cristian, Cuadras, Daniel, Pérez-Dueñas, Belén, Jordan, Iolanda, Cambra, Francisco J., Ortigoza-Escobar, Juan D., Muñoz-Almagro, Carmen, Garcia-Cazorla, Angels, Armangué, Thais, and Artuch, Rafael

Published
2020
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10. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Author

Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G., Hoischen, Alexander, Nelen, Marcel, Gilissen, Christian, consortium, Solve-R. D., Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoen, Peter A. C. T, Vissers, Lisenka E. L. M., Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, te Paske, Iris, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Yaou, Rabah Ben, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Abbott, Kristin M., Frederikse, Wilhemina Skerstjens, Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, de Sainte Agathe, Jean-Madeleine, Rooryck, Caroline, Lacombe, Didier, Trimouille, Aurelien, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, de la Rosa, F. Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Osorio, Andrés Nascimento, de Benito, Daniel Natera, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Beeson, David, Cossins, Judith, Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Chinnery, Patrick F., Ratnaike, Thiloka, Gao, Fei, Schon, Katherine, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas, Başak, Ayşe Nazlı, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Claeys, Kristl, Santen, Gijs W. E., Bijlsma, Emilia K., Hoffer, Mariette J. V., Ruivenkamp, Claudia A. L., Boztug, Kaan, Haimel, Matthias, Maystadt, Isabelle, Cordts, Isabelle, Deschauer, Marcus, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Depienne, Christel, Roos, Andreas, May, Patrick, and Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]

Subjects
Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Multidisciplinary, general & others [D99] [Human health sciences]
Abstract

Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques.

Published
2023

12. The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant

Author

Pauly, Martje G., primary, Korenke, G. Christoph, additional, Diaw, Sokhna Haissatou, additional, Grözinger, Anne, additional, Cazurro-Gutiérrez, Ana, additional, Pérez-Dueñas, Belén, additional, González, Victoria, additional, Macaya, Alfons, additional, Serrano Antón, Ana Teresa, additional, Peterlin, Borut, additional, Božović, Ivana Babić, additional, Maver, Aleš, additional, Münchau, Alexander, additional, and Lohmann, Katja, additional

Published
2023
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14. Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

Author

Martínez-Rubio, Dolores, primary, Hinarejos, Isabel, additional, Sancho, Paula, additional, Gorría-Redondo, Nerea, additional, Bernadó-Fonz, Raquel, additional, Tello, Cristina, additional, Marco-Marín, Clara, additional, Martí-Carrera, Itxaso, additional, Martínez-González, María Jesús, additional, García-Ribes, Ainhoa, additional, Baviera-Muñoz, Raquel, additional, Sastre-Bataller, Isabel, additional, Martínez-Torres, Irene, additional, Duat-Rodríguez, Anna, additional, Janeiro, Patrícia, additional, Moreno, Esther, additional, Pías-Peleteiro, Leticia, additional, Gordo, Mar O’Callaghan, additional, Ruiz-Gómez, Ángeles, additional, Muñoz, Esteban, additional, Martí, Maria Josep, additional, Sánchez-Monteagudo, Ana, additional, Fuster, Candela, additional, Andrés-Bordería, Amparo, additional, Pons, Roser Maria, additional, Jesús-Maestre, Silvia, additional, Mir, Pablo, additional, Lupo, Vincenzo, additional, Pérez-Dueñas, Belén, additional, Darling, Alejandra, additional, Aguilera-Albesa, Sergio, additional, and Espinós, Carmen, additional

Published
2022
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15. Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

Author

de Diego, Víctor, Martínez-Monseny, Antonio F., Muchart, Jordi, Cuadras, Daniel, Montero, Raquel, Artuch, Rafael, Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Poretti, Andrea, Serrano, Mercedes, Aguilera-Albesa, Sergio, Candela, Ramón Cancho, Marina, Ma Llanos Carrasco, Carratalá, Francisco, Couce, Ma Luz, Felipe, Ana, García, Óscar, García-Silva, Ma Teresa, Gutiérrez-Solana, Luis G, Macaya, Alfons, Miranda, Ma Concepción, López, Laura, López-Laso, Eduardo, Póo, M Pilar, Quijada-Fraile, Pilar, Robles, Bernabé, Sierra-Córcoles, Concepción, Velázquez-Fragua, Ramón, and Collaborators of the CDG Spanish-Consortium

Published
2017
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16. The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders

Author

Pérez‐Dueñas, Belén, primary, Gorman, Kathleen, additional, Marcé‐Grau, Anna, additional, Ortigoza‐Escobar, Juan D., additional, Macaya, Alfons, additional, Danti, Federica R., additional, Barwick, Katy, additional, Papandreou, Apostolos, additional, Ng, Joanne, additional, Meyer, Esther, additional, Mohammad, Shekeeb S., additional, Smith, Martin, additional, Muntoni, Francesco, additional, Munot, Pinki, additional, Uusimaa, Johanna, additional, Vieira, Päivi, additional, Sheridan, Eammon, additional, Guerrini, Renzo, additional, Cobben, Jan, additional, Yilmaz, Sanem, additional, De Grandis, Elisa, additional, Dale, Russell C., additional, Pons, Roser, additional, Peall, Kathryn J., additional, Leuzzi, Vincenzo, additional, and Kurian, Manju A., additional

Published
2022
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18. Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study

Author

Darling, Alejandra, Tello, Cristina, Martí, María Josep, Garrido, Cristina, Aguilera‐Albesa, Sergio, Tomás Vila, Miguel, Gastón, Itziar, Madruga, Marcos, González Gutiérrez, Luis, Ramos Lizana, Julio, Pujol, Montserrat, Gavilán Iglesias, Tania, Tustin, Kylee, Lin, Jean Pierre, Zorzi, Giovanna, Nardocci, Nardo, Martorell, Loreto, Lorenzo Sanz, Gustavo, Gutiérrez, Fuencisla, García, Pedro J., Vela, Lidia, Hernández Lahoz, Carlos, Ortigoza Escobar, Juan Darío, Martí Sánchez, Laura, Moreira, Fradique, Coelho, Miguel, Correia Guedes, Leonor, Castro Caldas, Ana, Ferreira, Joaquim, Pires, Paula, Costa, Cristina, Rego, Paulo, Magalhães, Marina, Stamelou, María, Cuadras Pallejà, Daniel, Rodríguez‐Blazquez, Carmen, Martínez‐Martín, Pablo, Lupo, Vincenzo, Stefanis, Leonidas, Pons, Roser, Espinós, Carmen, Temudo, Teresa, and Pérez Dueñas, Belén

Published
2017
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20. Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3

Author

Martínez-Rubio, Dolores, primary, Rodríguez-Prieto, Ángela, additional, Sancho, Paula, additional, Navarro-González, Carmen, additional, Gorría-Redondo, Nerea, additional, Miquel-Leal, Javier, additional, Marco-Marín, Clara, additional, Jenkins, Alison, additional, Soriano-Navarro, Mario, additional, Hernández, Alberto, additional, Pérez-Dueñas, Belén, additional, Fazzari, Pietro, additional, Aguilera-Albesa, Sergio, additional, and Espinós, Carmen, additional

Published
2022
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21. Early recognition of SGCE ‐myoclonus–dystonia in children

Author

Correa‐Vela, Marta, primary, Carvalho, Joao, additional, Ferrero‐Turrion, Julia, additional, Cazurro‐Gutiérrez, Ana, additional, Vanegas, Maria, additional, Gonzalez, Victoria, additional, Alvárez, Ramiro, additional, Marcé‐Grau, Anna, additional, Moreno, Antonio, additional, Macaya‐Ruiz, Alfons, additional, and Pérez‐Dueñas, Belén, additional

Published
2022
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23. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Author

Bullich, Gemma, primary, Matalonga, Leslie, additional, Pujadas, Montserrat, additional, Papakonstantinou, Anastasios, additional, Piscia, Davide, additional, Tonda, Raúl, additional, Artuch, Rafael, additional, Gallano, Pia, additional, Garrabou, Glòria, additional, González, Juan R., additional, Grinberg, Daniel, additional, Guitart, Míriam, additional, Laurie, Steven, additional, Lázaro, Conxi, additional, Luengo, Cristina, additional, Martí, Ramon, additional, Milà, Montserrat, additional, Ovelleiro, David, additional, Parra, Genís, additional, Pujol, Aurora, additional, Tizzano, Eduardo, additional, Macaya, Alfons, additional, Palau, Francesc, additional, Ribes, Antònia, additional, Pérez-Jurado, Luis A., additional, Beltran, Sergi, additional, Schlüter, Agatha, additional, Rodriguez-Palmero, Agustí, additional, Cáceres, Alejandro, additional, Nascimento, Andrés, additional, García-Cazorla, Àngels, additional, Cueto-González, Anna, additional, Marcé-Grau, Anna, additional, Nel.lo, Anna Ruiz, additional, Martínez-Monseny, Antonio, additional, Sànchez, Aurora, additional, García, Belén, additional, Pérez-Dueñas, Belén, additional, Gel, Bernat, additional, Fusté, Berta, additional, Hernández-Ferrer, Carles, additional, Casasnovas, Carlos, additional, Ortez, Carlos, additional, Arjona, César, additional, Hernando-Davalillo, Cristina, additional, de Benito, Daniel Natera, additional, Amador, Daniel Picó, additional, Gómez-Andrés, David, additional, Yubero, Dèlia, additional, Pelegrí-Sisó, Dolors, additional, Verdura, Edgard, additional, García-Arumí, Elena, additional, Castellanos, Elisabeth, additional, Gabau, Elisabeth, additional, Tobías, Ester, additional, López-Grondona, Fermina, additional, Cardellach, Francesc, additional, Garcia-Garcia, Francesc Josep, additional, Munell, Francina, additional, Tort, Frederic, additional, Aznar, Gemma, additional, Olivé-Cirera, Gemma, additional, Tell, Gemma, additional, Muñoz-Pujol, Gerard, additional, Paramonov, Ida, additional, Blanco, Ignacio, additional, Madrigal, Irene, additional, Valenzuela, Irene, additional, Gut, Ivo, additional, Cusco, Ivon, additional, Trotta, Jean-Rémi, additional, Cruz, Jordi, additional, Díaz-Manera, Jordi, additional, Milisenda, José César, additional, Ma Grau, Josep, additional, Garcia-Villoria, Judit, additional, Armstrong, Judith, additional, Cantó, Judith, additional, Sala-Coromina, Júlia, additional, Rodríguez-Revenga, Laia, additional, Alias, Laura, additional, Gort, Laura, additional, González-Quereda, Lídia, additional, Costa, Mar, additional, Fernández-Callejo, Marcos, additional, López-Sánchez, Marcos, additional, Álvarez-Mora, Maria Isabel, additional, Gut, Marta, additional, Serrano, Mercedes, additional, Raspall-Chaure, Miquel, additional, Toro, Mireia del, additional, Bayés, Mònica, additional, Díez, Neus Baena, additional, Spataro, Nino, additional, Capdevila, Núria, additional, Ugarteburu, Olatz, additional, Muñoz-Cabello, Patricia, additional, Duque, Penélope Romero, additional, Rabionet, Raquel, additional, Rojas-García, Ricard, additional, Calvo, Rosa, additional, Urreizti, Roser, additional, Bernal, Sara, additional, Boronat, Susana, additional, Balcells, Susanna, additional, and Vendrell, Teresa, additional

Published
2022
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24. Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

Author

Ortigoza‐Escobar, Juan Darío, Alfadhel, Majid, Molero‐Luis, Marta, Darin, Niklas, Spiegel, Ronen, de Coo, Irenaeus F., Gerards, Mike, Taylor, Robert W., Artuch, Rafael, Nashabat, Marwan, Rodríguez‐Pombo, Pilar, Tabarki, Brahim, Pérez‐Dueñas, Belén, Distelmaier, Felix, Hahn, Andreas, Morava, Eva, Banka, Siddharth, Debs, Rabab, Fraser, Jamie L., Isohanni, Pirjo, Lähdesmäki, Tuire, Livingston, John, Nadjar, Yann, Schuler, Elisabeth, Uusimaa, Johanna, Vanderver, Adeline, Friedman, Jennifer R., Zimbric, Michael R., McFarland, Robert, Santra, Saikat, Wassmer, Evangeline, Martí‐Sanchez, Laura, and Darling, Alejandra

Published
2017
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26. Early recognition of SGCE‐myoclonus–dystonia in children.

Author

Correa‐Vela, Marta, Carvalho, Joao, Ferrero‐Turrion, Julia, Cazurro‐Gutiérrez, Ana, Vanegas, Maria, Gonzalez, Victoria, Alvárez, Ramiro, Marcé‐Grau, Anna, Moreno, Antonio, Macaya‐Ruiz, Alfons, and Pérez‐Dueñas, Belén

Subjects
FOCAL dystonia, THERAPEUTICS, DYSTONIA
Abstract

Aim: To evaluate early dystonic features in children and adolescents with SGCE‐myoclonus–dystonia. Method: In this cross‐sectional study, 49 patients (26 females and 23 males) with SGCE‐myoclonus–dystonia (aged 15y 2mo, SD 12y) with childhood‐onset (2y 10mo, SD 1y 10mo) dystonia were examined using a standardized video recorded protocol. Dystonia was rated using the Writer's Cramp and Gait Dystonia Rating Scales. Disability and impairment for handwriting and walking were also rated. Results: Dystonia was present at rest (n=1), posture (n=12), and during specific motor tasks (n=45) such as writing (n=35), walking (n=23), and running (n=20). Most children reported disability while performing these tasks. Early dystonic patterns were identified for writer's cramp and gait dystonia, the latter named the 'circular shaking leg', 'dragging leg', and 'hobby‐horse gait' patterns. Sensory tricks were used by five and eight children to improve dystonia and myoclonus during writing and walking respectively. The rating scales accurately measured the severity of action dystonia and correlated with self‐reported disability. Interpretation: Children with SGCE‐myoclonus–dystonia show recognizable dystonic patterns and sensory tricks that may lead to an early diagnosis and timely therapeutic approach. Isolated writer's cramp is a key feature in childhood and should prompt SCGE analysis. The proposed action dystonia scales could be used to monitor disease course and response to treatment. What this paper adds: Most children with SGCE‐myoclonus–dystonia got writer's cramp and had walking and running dystonia.Writer's cramp was a key feature and should prompt SGCE genetic investigation.'Circular shaking leg', 'dragging leg', and 'hobby‐horse gait' were recognized as early gait patterns.Children used sensory tricks to improve myoclonus and dystonia, suggesting common pathophysiological mechanisms.Action dystonia rating scales are valid tools to assess severity in children. [ABSTRACT FROM AUTHOR]

Published
2023
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28. Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

Author

Ortigoza-Escobar, Juan Darío, Molero-Luis, Marta, Arias, Angela, Oyarzabal, Alfonso, Darín, Niklas, Serrano, Mercedes, Garcia-Cazorla, Angels, Tondo, Mireia, Hernández, María, Garcia-Villoria, Judit, Casado, Mercedes, Gort, Laura, Mayr, Johannes A., Rodríguez-Pombo, Pilar, Ribes, Antonia, Artuch, Rafael, and Pérez-Dueñas, Belén

Published
2016
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30. Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

Author

de Diego, Víctor, Martínez-Monseny, Antonio F., Muchart, Jordi, Cuadras, Daniel, Montero, Raquel, Artuch, Rafael, Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Poretti, Andrea, Serrano, Mercedes, Aguilera-Albesa, Sergio, Cancho Candela, Ramón, Carrasco Marina, Ma Llanos, Carratalá, Francisco, Couce, Ma Luz, Felipe, Ana, García, Óscar, García-Silva, Ma Teresa, Gutiérrez-Solana, Luis G, Macaya, Alfons, Miranda, Ma Concepción, López, Laura, López-Laso, Eduardo, Póo, M Pilar, Quijada-Fraile, Pilar, Robles, Bernabé, Sierra-Córcoles, Concepción, Velázquez-Fragua, Ramón, and Collaborators of the CDG Spanish-Consortium

Published
2017
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31. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Author

Crow, Yanick J., Chase, Diana S., Schmidt, Johanna Lowenstein, Szynkiewicz, Marcin, Forte, Gabriella M.A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Pizzino, Amy, Helman, Guy, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada M., Ackroyd, Sam, Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Baildam, Eileen M., Bahi-Buisson, Nadia, Bailey, Kathryn M., Barnerias, Christine, Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Geneviève, Bianchi, Marika, de Villemeur, Thierry Billette, Blair, Edward M., Bloom, Miriam, Burlina, Alberto B., Carpanelli, Maria Luisa, Carvalho, Daniel R., Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Corcoles, Concepcion Sierra, Cordeiro, Nuno J.V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., DArrigo, Stefano, De Goede, Christian G.E.L., De Laet, Corinne, De Waele, Liesbeth M.H., Denzler, Ines, Desguerre, Isabelle, Devriendt, Koenraad, Di Rocco, Maja, Fahey, Michael C., Fazzi, Elisa, Ferrie, Colin D., Figueiredo, António, Gener, Blanca, Goizet, Cyril, Gowrinathan, Nirmala R., Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Kara, Bülent, Khan, Nasaim, King, Mary D., Kirk, Edwin P., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, Piana, Roberta La, Lim, Ming J., Lin, Jean-Pierre S.-M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., Lourenço, Charles Marques, McKee, Shane A., Moroni, Isabella, Morton, Jenny E.V., Moutard, Marie-Laure, Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Olivieri, Ivana, Ostergaard, John R., Pérez-Dueñas, Belén, Prendiville, Julie S., Ramesh, Venkateswaran, Rasmussen, Magnhild, Régal, Luc, Ricci, Federica, Rio, Marlène, Rodriguez, Diana, Roubertie, Agathe, Salvatici, Elisabetta, Segers, Karin A., Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stödberg, Tommy I., Straussberg, Rachel, Swoboda, Kathryn J., Suri, Mohnish, Tacke, Uta, Tan, Tiong Y., te Water Naude, Johann, Teik, Keng Wee, Thomas, Maya Mary, Till, Marianne, Tonduti, Davide, Valente, Enza Maria, Van Coster, Rudy Noel, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Vogt, Julie, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Lebon, Pierre, Vanderver, Adeline, Orcesi, Simona, and Rice, Gillian I.

Published
2015
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33. Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration

Author

Sancho, Paula, Andrés-Bordería, Amparo, Gorría-Redondo, Nerea, Llano, Katia, Martínez-Rubio, Dolores, Yoldi-Petri, María Eugenia, Blumkin, Luba, Rodríguez de la Fuente, Pablo, Gil-Ortiz, Fernando, Fernández-Murga, Leonor, Sánchez-Monteagudo, Ana, Lupo, Vincenzo, Pérez-Dueñas, Belén, Espinós, Carmen, Aguilera-Albesa, Sergio, Universitat Autònoma de Barcelona, Institut Català de la Salut, [Sancho P, Martínez-Rubio D] Unit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain. [Andrés-Bordería A] Unit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain. Department of Physiology, Faculty of Medicine and Dentistry, University of Valencia, 46010 Valencia, Spain. [Gorría-Redondo N, Yoldi-Petri ME] Pediatric Neurology Unit, Department of Pediatrics, Complejo Hospitalario de Navarra, 31008 Pamplona, Spain. [Pérez-Dueñas B] Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
Male, 0301 basic medicine, Proband, Pathology, Protein Conformation, Sequence Homology, SPTBN2 gene, b-III spectrin, 030105 genetics & heredity, Fluid-attenuated inversion recovery, Cohort Studies, lcsh:Chemistry, Non-progressive congenital ataxia, 0302 clinical medicine, β-III spectrin, Spectrin, enfermedades del sistema nervioso::enfermedades neurodegenerativas [ENFERMEDADES], Age of Onset, Child, lcsh:QH301-705.5, Spectroscopy, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Neurodegeneration, neurodegeneration, Neurodegenerative Diseases, non-progressive congenital ataxia, Syndrome, General Medicine, Phenotype, Hypotonia, Computer Science Applications, Nervous System Diseases::Neurodegenerative Diseases [DISEASES], Spinocerebellar ataxia, medicine.symptom, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Cerebellar Ataxia, Neuroimaging, Biology, Catalysis, Article, Inorganic Chemistry, 03 medical and health sciences, Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Cerebellar Diseases::Cerebellar Ataxia [DISEASES], Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Humans, Amino Acid Sequence, Physical and Theoretical Chemistry, Molecular Biology, Genetic Association Studies, Organic Chemistry, medicine.disease, Hyperintensity, Sistema nerviós - Degeneració - Aspectes genètics, lcsh:Biology (General), lcsh:QD1-999, enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebelosas::ataxia cerebelosa [ENFERMEDADES], Mutation, 030217 neurology & neurosurgery
Abstract

(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by b-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that of autosomal dominant classical spinocerebellar ataxia type 5 (SCA5). (2) Methods: In-depth phenotyping of two boys studied by a customized gene panel. Candidate variants were sought by structural modeling and protein expression. An extensive review of the literature was conducted in order to better characterize the SPTBN2-associated NPCA. (3) Results: Patients exhibited an NPCA with hypotonia, developmental delay, cerebellar syndrome, and cognitive deficits. Both probands presented with progressive global cerebellar volume loss in consecutive cerebral magnetic resonance imaging studies, characterized by decreasing midsagittal vermis relative diameter measurements. Cortical hyperintensities were observed on fluid-attenuated inversion recovery (FLAIR) images, suggesting a neurodegenerative process. Each patient carried a novel de novo SPTBN2 substitution: c.193A &gt, G (p.K65E) or c.764A &gt, G (p.D255G). Modeling and protein expression revealed that both mutations might be deleterious. (4) Conclusions: The reported findings contribute to a better understanding of the SPTBN2-associated phenotype. The mutations may preclude proper structural organization of the actin spectrin-based membrane skeleton, which, in turn, is responsible for the underlying disease mechanism.

Published
2021

34. The European Reference Network for Rare Neurological Diseases

Author

Reinhard, Carola, Bachoud-Lévi, Anne-Catherine, Bäumer, Tobias, Bertini, Enrico, Brunelle, Alicia, Buizer, Annemieke I., Federico, Antonio, Gasser, Thomas, Groeschel, Samuel, Hermanns, Sanja, Klockgether, Thomas, Krägeloh-Mann, Ingeborg, Landwehrmeyer, G. Bernhard, Leber, Isabelle, Macaya Ruiz, Alfons, Mariotti, Caterina, Meissner, Wassilios G., Molnar, Maria Judit, Nonnekes, Jorik, Ortigoza Escobar, Juan Dario, Pérez-Dueñas, Belén, Renna Linton, Lori, Schöls, Ludger, Schuele, Rebecca, Tijssen, Marina A. J., Vandenberghe, Rik, Volkmer, Anna, Wolf, Nicole I., Graessner, Holm, and Universitat Autònoma de Barcelona

Subjects
Standards of care, Rare neurological diseases, European reference network, Virtual healthcare, Training and education
Abstract

While rare diseases (RDs) are by definition of low prevalence, the total number of patients suffering from an RD is high, and the majority of them have neurologic manifestations, involving central, peripheral nerve, and muscle. In 2017, 24 European Reference Networks (ERNs), each focusing on a specific group of rare or low-prevalence complex diseases, were formed to improve the care for patients with an RD. One major aim is to have "the knowledge travel instead of the patient," which has been put into practice by the implementation of the Clinical Patient Management System (CPMS) that enables clinicians to perform pan-European virtual consultations. The European Reference Network for Rare Neurological Diseases (ERN-RND) provides an infrastructure for knowledge sharing and care coordination for patients affected by a rare neurological disease (RND) involving the most common central nervous system pathological conditions. It covers the following disease groups: (i) Cerebellar Ataxias and Hereditary Spastic Paraplegias; (ii) Huntington's disease and Other Choreas; (iii) Frontotemporal dementia; (iv) Dystonia, (non-epileptic) paroxysmal disorders, and Neurodegeneration with Brain Iron Accumulation; (v) Leukoencephalopathies; and (vi) Atypical Parkinsonian Syndromes. At the moment, it unites 32 expert centers and 10 affiliated partners in 21 European countries, as well as patient representatives, but will soon cover nearly all countries of the European Union as a result of the ongoing expansion process. Disease expert groups developed and consented on diagnostic flowcharts and disease scales to assess the different aspects of RNDs. ERN-RND has started to discuss diagnostically unclear patients in the CPMS, is one of four ERNs that serve as foundation of Solve-RD, and has established an RND training and education program. The network will facilitate trial readiness through the establishment of an ERN-RND registry with a minimal data of all patients seen at the ERN-RND centers, thus providing a unique overview of existing genotype-based cohorts. The overall aim of the ERNs is to improve access for patients with RDs to quality diagnosis, care, and treatment. Based on this objective, ERNs are monitored by the European Commission on a regular basis to provide transparency and reassurance to the RD community and the general public

Published
2021

41. NR4A2Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism

Author

Jesús, Silvia, primary, Hinarejos, Isabel, additional, Carrillo, Fátima, additional, Martínez-Rubio, Dolores, additional, Macías-García, Daniel, additional, Sánchez-Monteagudo, Ana, additional, Adarmes, Astrid, additional, Lupo, Vincenzo, additional, Pérez-Dueñas, Belén, additional, Mir, Pablo, additional, and Espinós, Carmen, additional

Published
2021
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43. Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

Author

Correa-Vela, Marta, Lupo, Vincenzo, Montpeyó Garcia-Moreno, Marta, Sancho, Paula, Marcé-Grau, Anna, Hernández-Vara, Jorge, Darling, Alejandra, Jenkins, Alison, Fernández-Rodríguez, Sandra, Tello, Cristina, Ramírez-Jiménez, Laura, Pérez, Belén, Sánchez-Montáñez, Ángel, Macaya Ruiz, Alfons, Sobrido, María J., Martinez-Vicente, Marta, Pérez-Dueñas, Belén, Espinós, Carmen, Universitat Autònoma de Barcelona, Fundació La Marató de TV3, Instituto de Salud Carlos III, Generalitat Valenciana, Fundació per Amor a L'Art, and Ministerio de Educación, Cultura y Deporte (España)

Subjects
0301 basic medicine, Adult, medicine.medical_specialty, Levodopa, Proteasome Endopeptidase Complex, Neurodegeneration with brain iron accumulation, Neuroaxonal Dystrophies, Neurosciences. Biological psychiatry. Neuropsychiatry, medicine.disease_cause, Brief Communication, 03 medical and health sciences, Epilepsy, Consanguinity, Young Adult, 0302 clinical medicine, Parkinsonian Disorders, Internal medicine, Mitophagy, medicine, Cerebellar Degeneration, Humans, RC346-429, health care economics and organizations, Spinocerebellar Degenerations, Paraplegia, Mutation, business.industry, General Neuroscience, Parkinsonism, F-Box Proteins, Syndrome, medicine.disease, Phenotype, Iron Metabolism Disorders, nervous system diseases, 030104 developmental biology, Endocrinology, Female, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery, medicine.drug, RC321-571
Abstract

FBXO7 is implicated in the ubiquitin–proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS). Methods: We investigated the disease molecular bases in a child with PPS and brain iron accumulation. Results: A novel homozygous c.368C>G (p.S123*) FBXO7 mutation was identified in a child with spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, and brain iron deposition. Patient’s fibroblasts assays demonstrated an absence of FBXO7 RNA expression leading to impaired proteasome degradation and accumulation of poly-ubiquitinated proteins. Conclusion: This novel FBXO7 phenotype associated with impaired proteasome activity overlaps with neurodegeneration with brain iron accumulation disorders., Fundacio La Marato de TV3 [Grants 20143130 to BPD, and 20143131 to CE], by the Instituto de Salud Carlos III (ISCIII) - Subdireccion General de Evaluacion y Fomento de la Investigacion within the framework of the National R + D+I Plan cofunded with ERDF funds [Grants PI18/01319 to BPD and PI18/00147 to CE], and by the Generalitat Valenciana [Grant PROMETEO/2018/ 135 to CE]. Part of the equipment employed in this work has been funded by Generalitat Valenciana and cofinanced with ERDF funds (OP ERDF of Comunitat Valenciana 2014-2020). SFR had a contract funded by the Spanish Foundation Per Amor a l’Art (FPAA). PS had a FPU-PhD fellowship funded by the Spanish Ministry of Education, Culture and Sport Inmunoterapia

Published
2020

44. Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders

Author

Mohammad, Shekeeb S., Angiti, Rajeshwar Reddy, Biggin, Andrew, Morales-Briceño, Hugo, Goetti, Robert, Pérez-Dueñas, Belén, Gregory, Allison, Hogarth, Penelope, Ng, Joanne, Papandreou, Apostolos, Bhattacharya, Kaustuv, Rahman, Shamima, Prelog, Kristina, Webster, Richard I, Wassmer, Evangeline, Hayflick, Susan, Livingston, John, Kurian, Manju, Chong, W. Kling, Dale, Russell C., and Universitat Autònoma de Barcelona

Subjects
Pattern recognition, Basal ganglia, Striatal necrosis, Striatum, MRI
Abstract

Bilateral basal ganglia abnormalities on MRI are observed in a wide variety of childhood disorders. MRI pattern recognition can enable rationalization of investigations and also complement clinical and molecular findings, particularly confirming genomic findings and also enabling new gene discovery. A pattern recognition approach in children with bilateral basal ganglia abnormalities on brain MRI was undertaken in this international multicentre cohort study. Three hundred and five MRI scans belonging to 201 children with 34 different disorders were rated using a standard radiological scoring proforma. In addition, literature review on MRI patterns was undertaken in these 34 disorders and 59 additional disorders reported with bilateral basal ganglia MRI abnormalities. Cluster analysis on first MRI findings from the study cohort grouped them into four clusters: Cluster 1-T-weighted hyperintensities in the putamen; Cluster 2-T-weighted hyperintensities or increased MRI susceptibility in the globus pallidus; Cluster 3-T-weighted hyperintensities in the globus pallidus, brainstem and cerebellum with diffusion restriction; Cluster 4-T-weighted hyperintensities in the basal ganglia. The 34 diagnostic categories included in this study showed dominant clustering in one of the above four clusters. Inflammatory disorders grouped together in Cluster 1. Mitochondrial and other neurometabolic disorders were distributed across clusters 1, 2 and 3, according to lesions dominantly affecting the striatum (Cluster 1: glutaric aciduria type 1, propionic acidaemia, 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome and thiamine responsive basal ganglia disease associated with SLC19A3), pallidum (Cluster 2: methylmalonic acidaemia, Kearns Sayre syndrome, pyruvate dehydrogenase complex deficiency and succinic semialdehyde dehydrogenase deficiency) or pallidum, brainstem and cerebellum (Cluster 3: vigabatrin toxicity, Krabbe disease). The Cluster 4 pattern was exemplified by distinct T-weighted hyperintensities in the basal ganglia and other brain regions in genetically determined hypermanganesemia due to SLC39A14 and SLC30A10. Within the clusters, distinctive basal ganglia MRI patterns were noted in acquired disorders such as cerebral palsy due to hypoxic ischaemic encephalopathy in full-term babies, kernicterus and vigabatrin toxicity and in rare genetic disorders such as 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome, thiamine responsive basal ganglia disease, pantothenate kinase-associated neurodegeneration, TUBB4A and hypermanganesemia. Integrated findings from the study cohort and literature review were used to propose a diagnostic algorithm to approach bilateral basal ganglia abnormalities on MRI. After integrating clinical summaries and MRI findings from the literature review, we developed a prototypic decision-making electronic tool to be tested using further cohorts and clinical practice. Analysing a cohort of 201 children with bilateral basal ganglia MRI abnormalities in conjunction with a literature review, we propose a stepwise approach for 93 different disorders. Disorders cluster based on MRI changes in the putamen, globus pallidus alone or with brainstem and cerebellar changes and with T2W versus T1W hyperintensities in the basal ganglia

Published
2020

45. Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia

Author

Baz-Redón, Noelia, Rovira-Amigo, Sandra, Fernández Cancio, Mónica, Castillo-Corullón, Silvia, Cols, Maria, Caballero-Rabasco, M. Araceli, Asensio, Oscar, Martín de Vicente, Carlos, Martínez-Colls, Maria del Mar, Torrent-Vernetta, Alba, de Mir-Messa, Inés, Gartner, Silvia, Iglesias-Serrano, Ignacio, Díez-Izquierdo, Ana, Polverino, Eva, Amengual-Pieras, Esther, Amaro-Rodríguez, Rosanel, Vendrell, Montserrat, Mumany, Marta, Pascual-Sánchez, María Teresa, Pérez-Dueñas, Belén, Reula, Ana, Escribano, Amparo, Dasí, Francisco, Armengot-Carceller, Miguel, Garrido-Pontnou, Marta, Camats Tarruella, Núria, Moreno Galdó, Antonio, and Universitat Autònoma de Barcelona

Subjects
PCD, antibody, cilia, immunofluorescence, primary ciliary dyskinesia, Pathology, medicine.medical_specialty, Primary Ciliary Dyskinesia, Immunofluorescence, lcsh:Medicine, Immunoglobulins, Article, Immunofluorescència, 03 medical and health sciences, 0302 clinical medicine, Primary ciliary dyskinesia, Ciliary axoneme, antibody, medicine, otorhinolaryngologic diseases, Cilia, Respiratory system, Antibody, 030304 developmental biology, 0303 health sciences, medicine.diagnostic_test, biology, business.industry, Cilium, lcsh:R, cilia, General Medicine, medicine.disease, PCD, 030228 respiratory system, Discinesia ciliar primària, Cohort, biology.protein, business, Immunoglobulines, Rare disease
Abstract

Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing genes and diagnosis rate in PCD. The objective of this study is to determine the accuracy of a panel of four fluorescently labeled antibodies (DNAH5, DNALI1, GAS8 and RSPH4A or RSPH9) as a PCD diagnostic tool in the absence of transmission electron microscopy analysis. The panel was tested in nasal brushing samples of 74 patients with clinical suspicion of PCD. Sixty-eight (91.9%) patients were evaluable for all tested antibodies. Thirty-three cases (44.6%) presented an absence or mislocation of protein in the ciliary axoneme (15 absent and 3 proximal distribution of DNAH5 in the ciliary axoneme, 3 absent DNAH5 and DNALI1, 7 absent DNALI1 and cytoplasmatic localization of GAS8, 1 absent GAS8, 3 absent RSPH9 and 1 absent RSPH4A). Fifteen patients had confirmed or highly likely PCD but normal immunofluorescence results (68.8% sensitivity and 100% specificity). In conclusion, immunofluorescence analysis is a quick, available, low-cost and reliable diagnostic test for PCD, although it cannot be used as a standalone test., This research was funded by a grant from the Health Research and Development Strategy (AES) of Instituto de Salud Carlos III (ISCIII) (PI16/01233), co-financed by the European Regional Development Fund, Smart Growth Operational Programme 2014-2020, and with grants from the Spanish Society of Pediatric Pulmonology (SENP, 2016) and the Catalan Pneumology Foundation (FUCAP, 2016). N.C.-T. received a grant for a Short Term Scientific Mission from COST Action BM1407. It was also supported by the CIBER of Rare Diseases (CIBERER, ISCIII) U-712 to N.C.-T. and M.F.-C.

Published
2020

47. Utilidad del análisis del líquido cefalorraquídeo para el estudio de las deficiencias del metabolismo de neurotransmisores y pterinas y del transporte de glucosa y folato a través de la barrera hematoencefálica

Author

Ormazabal, Aida, García Cazorla, Àngels, Pérez Dueñas, Belén, Pineda, Mercé, Ruiz, Ángeles, López Laso, Eduardo, García Silva, Maite, Carilho, Inés, Barbot, Clara, Cormand, Bru, Ribases, Marta, Moller, Lisbeth, Fernández Álvarez, Emilio, Campistol, Jaume, and Artuch, Rafael

Published
2006
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