24 results on '"Koritnik, Blaz"'
Search Results
2. Cone-beam computed tomography guided nusinersen administrations in adult spinal muscular atrophy patients with challenging access: a single- center experience
- Author
-
Salapura Vladka, Snoj Ziga, Leonardis Lea, Koritnik Blaz, and Kostadinova Viktorija
- Subjects
nusinersen ,cone-beam ct ,lumbar puncture ,Medical physics. Medical radiology. Nuclear medicine ,R895-920 - Abstract
The challenging anatomic predispositions in adult patients with spinal muscular atrophy (SMA) preclude the conventional lumbar punctures. Consequently, an introduction of alternative method for intrathecal delivery of nusinersen is required. Cone-beam CT (CBCT) allows volumetric display of the area of interest, pre-procedural planning and real time needle guidance which results in accurate anatomic navigation. The aim of the study was to evaluate technical success, safety, and feasibility of CBCT lumbar intrathecal delivery of nusinersen in the adult SMA patients with challenging anatomical access.
- Published
- 2022
- Full Text
- View/download PDF
3. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial
- Author
-
Sebok, Agnes, Pestronk, Alan, Dominovic-Kovacevic, Aleksandra, Khan, Aneal, Koritnik, Blaž, Tard, Celine, Lindberg, Christopher, Quinn, Colin, Kornblum, Cornelia, Eldridge, Crystal, Bodkin, Cynthia, Reyes-Leiva, David, Hughes, Derralynn, Stefanescu, Ela, SALORT-CAMPANA, Emmanuelle, Butler, Ernest, Bouhour, Francoise, Kim, Gee, Konstantinos Papadimas, George, Parenti, Giancarlo, Bartosik-Psujek, Halina, Kushlaf, Hani, Akihiro, Hashiguchi, Lau, Heather, Pedro, Helio, Andersen, Henning, Amartino, Hernan, Shiraishi, Hideaki, Kobayashi, Hiroshi, Tarnev, Ivaylo, Vengoechea, Jaime, Avelar, Jennifer, Shin, Jin-Hong, Cauci, Jonathan, Alonso-Pérez, Jorge, Janszky, Jozsef, Berthy, Julie, Gutschmidt, Kristina, Claeys, Kristl, Judit Molnar, Maria, Wencel, Marie, Tarnopolsky, Mark, Dimachkie, Mazen, Tchan, Michel, Freimer, Miriam, Longo, Nicola, Vidal-Fernandez, Nuria, Musumeci, Olimpia, Goker-Alpan, Ozlem, Deegan, Patrick, Clemens, Paula R., Roxburgh, Richard, Henderson, Robert, Hopkin, Robert, Sacconi, Sabrina, Fecarotta, Simona, Attarian, Shahram, Wenninger, Stephan, Dearmey, Stephanie, Hiwot, Tarekegn, Burrow, Thomas, Ruck, Tobias, Sawada, Tomo, Laszlo, Vescei, Löscher, Wolfgang, Chien, Yin-Hsiu, Schoser, Benedikt, Roberts, Mark, Byrne, Barry J, Sitaraman, Sheela, Jiang, Hai, Laforêt, Pascal, Toscano, Antonio, Castelli, Jeff, Díaz-Manera, Jordi, Goldman, Mitchell, van der Ploeg, Ans T, Bratkovic, Drago, Kuchipudi, Srilakshmi, Mozaffar, Tahseen, and Kishnani, Priya S
- Published
- 2021
- Full Text
- View/download PDF
4. Preserved cholinergic forebrain integrity reduces structural connectome vulnerability in mild cognitive impairment
- Author
-
Berlot, Rok, Koritnik, Blaž, Pirtošek, Zvezdan, and Ray, Nicola J.
- Published
- 2021
- Full Text
- View/download PDF
5. Neuroimaging in amyotrophic lateral sclerosis
- Author
-
Turner, Martin R, primary, Williams, Victoria, additional, Blain, Camilla, additional, Jones, Derek, additional, Koritnik, Blaz, additional, and Leigh, P Nigel, additional
- Published
- 2021
- Full Text
- View/download PDF
6. Beyond aphasia: Altered EEG connectivity in Broca’s patients during working memory task
- Author
-
Rutar Gorišek, Veronika, Zupanc Isoski, Vlasta, Belič, Aleš, Manouilidou, Christina, Koritnik, Blaž, Bon, Jure, Pečarič Meglič, Nuška, Vrabec, Matej, Žibert, Janez, Repovš, Grega, and Zidar, Janez
- Published
- 2016
- Full Text
- View/download PDF
7. Clinical trials in pediatric ALS: a TRICALS feasibility study
- Author
-
Kliest, Tessa, Van Eijk, Ruben P.A., Al-Chalabi, Ammar, Albanese, Alberto, Andersen, Peter M., Amador, Maria Del Mar, Bråthen, Geir, Brunaud-Danel, Veronique, Brylev, Lev, Camu, William, De Carvalho, Mamede, Cereda, Cristina, Cetin, Hakan, Chaverri, Delia, Chiò, Adriano, Corcia, Philippe, Couratier, Philippe, De Marchi, Fabiola, Desnuelle, Claude, Van Es, Michael A., Esteban, JesÚs, Filosto, Massimiliano, GarcÍa Redondo, Alberto, Grosskreutz, Julian, Hanemann, Clemens O., Holmøy, Trygve, Høyer, Helle, Ingre, Caroline, Koritnik, Blaz, Kuzma-Kozakiewicz, Magdalena, Lambert, Thomas, Leigh, Peter N., Lunetta, Christian, Mandrioli, Jessica, Mcdermott, Christopher J., Meyer, Thomas, Mora, Jesus S., Petri, Susanne, Povedano, Mónica, Reviers, Evy, Riva, Nilo, Roes, Kit C.B., Rubio, Miguel Á., Salachas, François, Sarafov, Stayko, Sorarù, Gianni, Stevic, Zorica, Svenstrup, Kirsten, Møller, Anette Torvin, Turner, Martin R., Van Damme, Philip, Van Leeuwen, Lucie A.G., Varona, Luis, VÁzquez Costa, Juan F., Weber, Markus, Hardiman, Orla, Van Den Berg, Leonard H., Kliest, Tessa, Van Eijk, Ruben P.A., Al-Chalabi, Ammar, Albanese, Alberto, Andersen, Peter M., Amador, Maria Del Mar, Bråthen, Geir, Brunaud-Danel, Veronique, Brylev, Lev, Camu, William, De Carvalho, Mamede, Cereda, Cristina, Cetin, Hakan, Chaverri, Delia, Chiò, Adriano, Corcia, Philippe, Couratier, Philippe, De Marchi, Fabiola, Desnuelle, Claude, Van Es, Michael A., Esteban, JesÚs, Filosto, Massimiliano, GarcÍa Redondo, Alberto, Grosskreutz, Julian, Hanemann, Clemens O., Holmøy, Trygve, Høyer, Helle, Ingre, Caroline, Koritnik, Blaz, Kuzma-Kozakiewicz, Magdalena, Lambert, Thomas, Leigh, Peter N., Lunetta, Christian, Mandrioli, Jessica, Mcdermott, Christopher J., Meyer, Thomas, Mora, Jesus S., Petri, Susanne, Povedano, Mónica, Reviers, Evy, Riva, Nilo, Roes, Kit C.B., Rubio, Miguel Á., Salachas, François, Sarafov, Stayko, Sorarù, Gianni, Stevic, Zorica, Svenstrup, Kirsten, Møller, Anette Torvin, Turner, Martin R., Van Damme, Philip, Van Leeuwen, Lucie A.G., Varona, Luis, VÁzquez Costa, Juan F., Weber, Markus, Hardiman, Orla, and Van Den Berg, Leonard H.
- Abstract
Background: Pediatric investigation plans (PIPs) describe how adult drugs can be studied in children. In 2015, PIPs for Amyotrophic Lateral Sclerosis (ALS) became mandatory for European marketing-authorization of adult treatments, unless a waiver is granted by the European Medicines Agency (EMA). Objective: To assess the feasibility of clinical studies on the effect of therapy in children (<18 years) with ALS in Europe. Methods: The EMA database was searched for submitted PIPs in ALS. A questionnaire was sent to 58 European ALS centers to collect the prevalence of pediatric ALS during the past ten years, the recruitment potential for future pediatric trials, and opinions of ALS experts concerning a waiver for ALS. Results: Four PIPs were identified; two were waived and two are planned for the future. In total, 49 (84.5%) centers responded to the questionnaire. The diagnosis of 44,858 patients with ALS was reported by 46 sites; 39 of the patients had an onset < 18 years (prevalence of 0.008 cases per 100,000 or 0.087% of all diagnosed patients). The estimated recruitment potential (47 sites) was 26 pediatric patients within five years. A majority of ALS experts (75.5%) recommend a waiver should apply for ALS due to the low prevalence of pediatric ALS. Conclusions: ALS with an onset before 18 years is extremely rare and may be a distinct entity from adult ALS. Conducting studies on the effect of disease-modifying therapy in pediatric ALS may involve lengthy recruitment periods, high costs, ethical/legal implications, challenges in trial design and limited information.
- Published
- 2022
- Full Text
- View/download PDF
8. Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
- Author
-
Leonardis, Lea, primary, Skrjanec Pusenjak, Marusa, additional, Maver, Ales, additional, Jaklic, Helena, additional, Ozura Brecko, Ana, additional, Koritnik, Blaz, additional, Peterlin, Borut, additional, and Writzl, Karin, additional
- Published
- 2022
- Full Text
- View/download PDF
9. Clinical trials in pediatric ALS: a TRICALS feasibility study
- Author
-
Kliest, Tessa, primary, Van Eijk, Ruben P.A., additional, Al-Chalabi, Ammar, additional, Albanese, Alberto, additional, Andersen, Peter M., additional, Amador, Maria Del Mar, additional, BrÅthen, Geir, additional, Brunaud-Danel, Veronique, additional, Brylev, Lev, additional, Camu, William, additional, De Carvalho, Mamede, additional, Cereda, Cristina, additional, Cetin, Hakan, additional, Chaverri, Delia, additional, Chiò, Adriano, additional, Corcia, Philippe, additional, Couratier, Philippe, additional, De Marchi, Fabiola, additional, Desnuelle, Claude, additional, Van Es, Michael A., additional, Esteban, JesÚs, additional, Filosto, Massimiliano, additional, GarcÍa Redondo, Alberto, additional, Grosskreutz, Julian, additional, Hanemann, Clemens O., additional, HolmØy, Trygve, additional, HØyer, Helle, additional, Ingre, Caroline, additional, Koritnik, Blaz, additional, Kuzma-Kozakiewicz, Magdalena, additional, Lambert, Thomas, additional, Leigh, Peter N., additional, Lunetta, Christian, additional, Mandrioli, Jessica, additional, Mcdermott, Christopher J., additional, Meyer, Thomas, additional, Mora, Jesus S., additional, Petri, Susanne, additional, Povedano, MÓnica, additional, Reviers, Evy, additional, Riva, Nilo, additional, Roes, Kit C.B., additional, Rubio, Miguel Á., additional, Salachas, FranÇois, additional, Sarafov, Stayko, additional, SorarÙ, Gianni, additional, Stevic, Zorica, additional, Svenstrup, Kirsten, additional, MØller, Anette Torvin, additional, Turner, Martin R., additional, Van Damme, Philip, additional, Van Leeuwen, Lucie A.G., additional, Varona, Luis, additional, VÁzquez Costa, Juan F., additional, Weber, Markus, additional, Hardiman, Orla, additional, and Van Den Berg, Leonard H., additional
- Published
- 2022
- Full Text
- View/download PDF
10. A large-scale multicentre cerebral diffusion tensor imaging study in amyotrophic lateral sclerosis
- Author
-
Müller, Hans-Peter, Turner, Martin R, Grosskreutz, Julian, Abrahams, Sharon, Bede, Peter, Govind, Varan, Prudlo, Johannes, Ludolph, Albert C, Filippi, Massimo, Kassubek, Jan, Abdulla, Susanne, Agosta, Federica, Ajroud-Driss, Senda, Atassi, Nazem, Bastin, Mark, Benatar, Michael, Brooks, William, Calvo, Andrea, Cardenas-Blanco, Arturo, Chio, Adriano, De Carvalho, Mamede, Dahnke, Robert, Enzinger, Christian, Ferraro, Pilar Maria, Floeter, Mary Kay, Foerster, Bradley, Gaser, Christian, Geraldo, Ana Filipa, Gorges, Martin, Grehl, Torsten, Groen, Georg, Hardiman, Orla, Hartung, Viktor, Jelsone-Swain, Laura, Jenkins, Tom, Kalra, Sanjay, Kasper, Elisabeth, Kitzler, Hagen, Koritnik, Blaz, Kuzma–Kozakiewicz, Magdalena, LaFleur, Karl, Lulé, Dorothée, Machts, Judith, Meoded, Avner, Pettit, Lewis, Euan, MacDonald, Pioro, Erik, Poletti, Barbara, Pradat, Pierre-Francois, Prell, Tino, Proudfoot, Malcolm, Ratti, Elena, Riva, Nilo, Robberecht, Wim, Ropele, Stefan, Salachas, Francois, Schmidt, Ruben, Schmidt-Wilcke, Schuster, Christina, Shaw, Pamela, Sherman, Alex, Silani, Vincenzo, Spinelli, Edoardo Gioele, Teipel, Stefan, Van Damme, Philip, Van den Berg, Leonard, Van den Heuvel, Martin, Verstraete, Esther, Walhout, Renée, Welsh, Robert, Weber, Markus, Westeneng, Henk-Jan, Wittstock, Matthias, and Yunusova, Yana
- Published
- 2016
- Full Text
- View/download PDF
11. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
- Author
-
van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Basak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D'Alfonso, Sandra, Soraru, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chio, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc'h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stephanie, Meininger, Vincent, Salachas, Francois, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-Garcia, Ricardo, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nothen, Markus M., Amouyel, Philippe, Comi, Giancarlo, Riva, Nilo, Lunetta, Christian, Gerardi, Francesca, Cotelli, Maria Sofia, Rinaldi, Fabrizio, Chiveri, Luca, Guaita, Maria Cristina, Perrone, Patrizia, Ceroni, Mauro, Diamanti, Luca, Ferrarese, Carlo, Tremolizzo, Lucio, Delodovici, Maria Luisa, Bono, Giorgio, Manera, Umberto, Vasta, Rosario, Bombaci, Alessandro, Casale, Federico, Fuda, Giuseppe, Salamone, Paolina, Iazzolino, Barbara, Peotta, Laura, Cugnasco, Paolo, De Marco, Giovanni, Torrieri, Maria Claudia, Palumbo, Francesca, Gallone, Salvatore, Barberis, Marco, Sbaiz, Luca, Gentile, Salvatore, Mauro, Alessandro, Mazzini, Letizia, De Marchi, Fabiola, Corrado, Lucia, Bertolotto, Antonio, Gionco, Maurizio, Leotta, Daniela, Odddenino, Enrico, Imperiale, Daniele, Cavallo, Roberto, Pignatta, Pietro, De Mattei, Marco, Geda, Claudio, Papurello, Diego Maria, Gusmaroli, Graziano, Comi, Cristoforo, Labate, Carmelo, Ruiz, Luigi, Ferrandi, Delfina, Rota, Eugenia, Aguggia, Marco, Di Vito, Nicoletta, Meineri, Piero, Ghiglione, Paolo, Launaro, Nicola, Dotta, Michele, Di Sapio, Alessia, Giardini, Guido, Tiloca, Cinzia, Peverelli, Silvia, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Comi, Giacomo P., Del Bo, Roberto, Gagliardi, Stella, Raggi, Flavia, Simoncini, Costanza, Lo Gerfo, Annalisa, Inghilleri, Maurizio, Ferlini, Alessandra, Simone, Isabella L., Passarella, Bruno, Guerra, Vito, Zoccolella, Stefano, Nozzoli, Cecilia, Mundi, Ciro, Leone, Maurizio, Zarrelli, Michele, Tamma, Filippo, Valluzzi, Francesco, Calabrese, Gianluigi, Boero, Giovanni, Rini, Augusto, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Joerk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Huebner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaz, Zidar, Janez, Ravnik-Glavac, Metka, Glavac, Damjan, Stevic, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Robert H., Jr., Landers, John E., Shaw, Christopher E., Andersen, Peter M., Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., Veldink, Jan H., van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Basak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D'Alfonso, Sandra, Soraru, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chio, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc'h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stephanie, Meininger, Vincent, Salachas, Francois, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-Garcia, Ricardo, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nothen, Markus M., Amouyel, Philippe, Comi, Giancarlo, Riva, Nilo, Lunetta, Christian, Gerardi, Francesca, Cotelli, Maria Sofia, Rinaldi, Fabrizio, Chiveri, Luca, Guaita, Maria Cristina, Perrone, Patrizia, Ceroni, Mauro, Diamanti, Luca, Ferrarese, Carlo, Tremolizzo, Lucio, Delodovici, Maria Luisa, Bono, Giorgio, Manera, Umberto, Vasta, Rosario, Bombaci, Alessandro, Casale, Federico, Fuda, Giuseppe, Salamone, Paolina, Iazzolino, Barbara, Peotta, Laura, Cugnasco, Paolo, De Marco, Giovanni, Torrieri, Maria Claudia, Palumbo, Francesca, Gallone, Salvatore, Barberis, Marco, Sbaiz, Luca, Gentile, Salvatore, Mauro, Alessandro, Mazzini, Letizia, De Marchi, Fabiola, Corrado, Lucia, Bertolotto, Antonio, Gionco, Maurizio, Leotta, Daniela, Odddenino, Enrico, Imperiale, Daniele, Cavallo, Roberto, Pignatta, Pietro, De Mattei, Marco, Geda, Claudio, Papurello, Diego Maria, Gusmaroli, Graziano, Comi, Cristoforo, Labate, Carmelo, Ruiz, Luigi, Ferrandi, Delfina, Rota, Eugenia, Aguggia, Marco, Di Vito, Nicoletta, Meineri, Piero, Ghiglione, Paolo, Launaro, Nicola, Dotta, Michele, Di Sapio, Alessia, Giardini, Guido, Tiloca, Cinzia, Peverelli, Silvia, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Comi, Giacomo P., Del Bo, Roberto, Gagliardi, Stella, Raggi, Flavia, Simoncini, Costanza, Lo Gerfo, Annalisa, Inghilleri, Maurizio, Ferlini, Alessandra, Simone, Isabella L., Passarella, Bruno, Guerra, Vito, Zoccolella, Stefano, Nozzoli, Cecilia, Mundi, Ciro, Leone, Maurizio, Zarrelli, Michele, Tamma, Filippo, Valluzzi, Francesco, Calabrese, Gianluigi, Boero, Giovanni, Rini, Augusto, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Joerk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Huebner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaz, Zidar, Janez, Ravnik-Glavac, Metka, Glavac, Damjan, Stevic, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Robert H., Jr., Landers, John E., Shaw, Christopher E., Andersen, Peter M., Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., and Veldink, Jan H.
- Abstract
A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology. Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.
- Published
- 2021
- Full Text
- View/download PDF
12. Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population
- Author
-
Vrabec, Katarina, Koritnik, Blaž, Leonardis, Lea, Dolenc-Grošelj, Leja, Zidar, Janez, Smith, Bradley, Vance, Caroline, Shaw, Christopher, Rogelj, Boris, Glavač, Damjan, and Ravnik-Glavač, Metka
- Published
- 2015
- Full Text
- View/download PDF
13. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
- Author
-
Alonso-Pérez, Jorge, González-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, Andrés, Ortez, Carlos, Comi, Giacomo Pietro, Dam, Leroy Ten, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuß, Andrea, Løkken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andrés, David, Munell, Francina, Costa-Comellas, Laura, Haberlová, Jana, Rohlenová, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernández-Torrón, Roberto, López de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, Díaz-Manera, Jordi, Alonso-Pérez, Jorge, González-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, Andrés, Ortez, Carlos, Comi, Giacomo Pietro, Dam, Leroy Ten, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuß, Andrea, Løkken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andrés, David, Munell, Francina, Costa-Comellas, Laura, Haberlová, Jana, Rohlenová, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernández-Torrón, Roberto, López de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, and Díaz-Manera, Jordi
- Abstract
Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. In 2016, several clinicians involved in the diagnosis, management and care of patients with LGMDR3-6 created a European Sarcoglycanopathy Consortium. The aim of the present study was to determine the clinical and genetic spectrum of a large cohort of patients with sarcoglycanopathy in Europe. This was an observational retrospective study. A total of 33 neuromuscular centres from 13 different European countries collected data of the genetically confirmed patients with sarcoglycanopathy followed-up at their centres. Demographic, genetic and clinical data were collected for this study. Data from 439 patients from 13 different countries were collected. Forty-three patients were not included in the analysis because of insufficient clinical information available. A total of 159 patients had a confirmed diagnosis of LGMDR3, 73 of LGMDR4, 157 of LGMDR5 and seven of LGMDR6. Patients with LGMDR3 had a later onset and slower progression of the disease. Cardiac involvement was most frequent in LGMDR4. Sixty per cent of LGMDR3 patients carried one of the following mutations, either in a homozygous or heterozygous state: c.229C>T, c.739G>A or c.850C>T. Similarly, the most common mutations in LMGDR5 patients were c.525delT or c.848G>A. In LGMDR4 patients the most frequent mutation was c.341C>T. We identified onset of symptoms before 10 years of age and residual protein expression lower than 30% as independent risk factors for losing ambulation before 18 years of age, in LGMDR3, LGMDR4 and LGMDR5 patients. This study reports clinical, genetic and protein data of a large European cohort of patients with sarcoglycanopathy. Improving our knowledge about these extremely rare autosomal recessive forms of LGMD was helped by a collaborative effort of neuro
- Published
- 2020
14. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
- Author
-
Alonso-Pérez, Jorge, primary, González-Quereda, Lidia, additional, Bello, Luca, additional, Guglieri, Michela, additional, Straub, Volker, additional, Gallano, Pia, additional, Semplicini, Claudio, additional, Pegoraro, Elena, additional, Zangaro, Vittoria, additional, Nascimento, Andrés, additional, Ortez, Carlos, additional, Comi, Giacomo Pietro, additional, Dam, Leroy ten, additional, De Visser, Marianne, additional, van der Kooi, A J, additional, Garrido, Cristina, additional, Santos, Manuela, additional, Schara, Ulrike, additional, Gangfuß, Andrea, additional, Løkken, Nicoline, additional, Storgaard, Jesper Helbo, additional, Vissing, John, additional, Schoser, Benedikt, additional, Dekomien, Gabriele, additional, Udd, Bjarne, additional, Palmio, Johanna, additional, D'Amico, Adele, additional, Politano, Luisa, additional, Nigro, Vincenzo, additional, Bruno, Claudio, additional, Panicucci, Chiara, additional, Sarkozy, Anna, additional, Abdel-Mannan, Omar, additional, Alonso-Jimenez, Alicia, additional, Claeys, Kristl G, additional, Gomez-Andrés, David, additional, Munell, Francina, additional, Costa-Comellas, Laura, additional, Haberlová, Jana, additional, Rohlenová, Marie, additional, Elke, De Vos, additional, De Bleecker, Jan L, additional, Dominguez-González, Cristina, additional, Tasca, Giorgio, additional, Weiss, Claudia, additional, Deconinck, Nicolas, additional, Fernández-Torrón, Roberto, additional, López de Munain, Adolfo, additional, Camacho-Salas, Ana, additional, Melegh, Béla, additional, Hadzsiev, Kinga, additional, Leonardis, Lea, additional, Koritnik, Blaz, additional, Garibaldi, Matteo, additional, de Leon-Hernández, Juan Carlos, additional, Malfatti, Edoardo, additional, Fraga-Bau, Arturo, additional, Richard, Isabelle, additional, Illa, Isabel, additional, and Díaz-Manera, Jordi, additional
- Published
- 2020
- Full Text
- View/download PDF
15. Preserved Cholinergic Forebrain Integrity Reduces Structural Connectome Vulnerability in Mild Cognitive Impairment (2604)
- Author
-
Berlot, Rok, primary, Koritnik, Blaz, additional, Pirtosek, Zvezdan, additional, and Ray, Nicola, additional
- Published
- 2020
- Full Text
- View/download PDF
16. P80-F The spectrum of involuntary movements in patients with motor neuron disease – A cross-sectional study
- Author
-
Vogelnik, Katarina, primary, Alfonso, Ruben Parellon, additional, Grošelj, Leja Dolenc, additional, Klavžar, Polona, additional, Koritnik, Blaz, additional, Leonardis, Lea, additional, Zidar, Janez, additional, and Kojovic, Maja, additional
- Published
- 2019
- Full Text
- View/download PDF
17. July 2017 ENCALS statement on edaravone
- Author
-
Al-Chalabi, Ammar, Andersen, Peter M., Chandran, Siddharthan, Chio, Adriano, Corcia, Philippe, Couratier, Philippe, Danielsson, Olof, de Carvalho, Mamede, Desnuelle, Claude, Grehl, Torsten, Grosskreutz, Julian, Holmoy, Trygve, Ingre, Caroline, Karlsborg, Merete, Kleveland, Grethe, Christoph Koch, Jan, Koritnik, Blaz, KuzmaKozakiewicz, Magdalena, Laaksovirta, Hannu, Ludolph, Albert, McDermott, Christopher, Meyer, Thomas, Ropero, Bernardo Mitre, Pardina, Jesus Mora, Nygren, Ingela, Petri, Susanne, Povedano Panades, Monica, Salachas, Francois, Shaw, Pamela, Silani, Vincenzo, Staaf, Gert, Svenstrup, Kirsten, Talbot, Kevin, Tysnes, Ole-Bjorn, Van Damme, Philip, van der Kooi, Anneke, Weber, Markus, Weydt, Patrick, Wolf, Joachim, Hardiman, Orla, van den Berg, Leonard H., Al-Chalabi, Ammar, Andersen, Peter M., Chandran, Siddharthan, Chio, Adriano, Corcia, Philippe, Couratier, Philippe, Danielsson, Olof, de Carvalho, Mamede, Desnuelle, Claude, Grehl, Torsten, Grosskreutz, Julian, Holmoy, Trygve, Ingre, Caroline, Karlsborg, Merete, Kleveland, Grethe, Christoph Koch, Jan, Koritnik, Blaz, KuzmaKozakiewicz, Magdalena, Laaksovirta, Hannu, Ludolph, Albert, McDermott, Christopher, Meyer, Thomas, Ropero, Bernardo Mitre, Pardina, Jesus Mora, Nygren, Ingela, Petri, Susanne, Povedano Panades, Monica, Salachas, Francois, Shaw, Pamela, Silani, Vincenzo, Staaf, Gert, Svenstrup, Kirsten, Talbot, Kevin, Tysnes, Ole-Bjorn, Van Damme, Philip, van der Kooi, Anneke, Weber, Markus, Weydt, Patrick, Wolf, Joachim, Hardiman, Orla, and van den Berg, Leonard H.
- Published
- 2017
- Full Text
- View/download PDF
18. July 2017 ENCALS statement on edaravone
- Author
-
Al-Chalabi, Ammar, primary, Andersen, Peter M., additional, Chandran, Siddharthan, additional, Chio, Adriano, additional, Corcia, Philippe, additional, Couratier, Philippe, additional, Danielsson, Olof, additional, de Carvalho, Mamede, additional, Desnuelle, Claude, additional, Grehl, Torsten, additional, Grosskreutz, Julian, additional, Holmøy, Trygve, additional, Ingre, Caroline, additional, Karlsborg, Merete, additional, Kleveland, Grethe, additional, Christoph Koch, Jan, additional, Koritnik, Blaz, additional, KuzmaKozakiewicz, Magdalena, additional, Laaksovirta, Hannu, additional, Ludolph, Albert, additional, McDermott, Christopher, additional, Meyer, Thomas, additional, Mitre Ropero, Bernardo, additional, Mora Pardina, Jesus, additional, Nygren, Ingela, additional, Petri, Susanne, additional, Povedano Panades, Mónica, additional, Salachas, Francois, additional, Shaw, Pamela, additional, Silani, Vincenzo, additional, Staaf, Gert, additional, Svenstrup, Kirsten, additional, Talbot, Kevin, additional, Tysnes, Ole-Bjørn, additional, Van Damme, Philip, additional, van der Kooi, Anneke, additional, Weber, Markus, additional, Weydt, Patrick, additional, Wolf, Joachim, additional, Hardiman, Orla, additional, and van den Berg, Leonard H., additional
- Published
- 2017
- Full Text
- View/download PDF
19. Electrophysiological Studies to Detect Peripheral Neuropathy in Children Treated With Vincristine
- Author
-
Kavcic, Marko, primary, Koritnik, Blaz, additional, Krzan, Matevz, additional, Velikonja, Orjana, additional, Prelog, Tomaz, additional, Stefanovic, Milica, additional, Debeljak, Maruša, additional, and Jazbec, Janez, additional
- Published
- 2017
- Full Text
- View/download PDF
20. Awake Craniotomy for Left Insular Low-Grade Glioma Removal on a Patient with Learning Disabilities
- Author
-
Vranic, Andrej, additional, Koritnik, Blaz, additional, and Markovic-Bozic, Jasmina, additional
- Published
- 2017
- Full Text
- View/download PDF
21. Sleep magnetic resonance imaging with electroencephalogram in obstructive sleep apnea syndrome
- Author
-
Kavcic, Pavel, primary, Koren, Ales, additional, Koritnik, Blaz, additional, Fajdiga, Igor, additional, and Groselj, Leja D., additional
- Published
- 2014
- Full Text
- View/download PDF
22. THALAMIC CONNECTIVITY CONTRIBUTES TO EPISODIC MEMORY IN MILD COGNITIVE IMPAIRMENT
- Author
-
Berlot, Rok, Pileckyte, Indre, Brezovar, Simon, Koritnik, Blaž, and Pirtošek, Zvezdan
- Published
- 2017
- Full Text
- View/download PDF
23. Sleep magnetic resonance imaging with electroencephalogram in obstructive sleep apnea syndrome.
- Author
-
Kavcic, Pavel, Koren, Ales, Koritnik, Blaz, Fajdiga, Igor, and Groselj, Leja D.
- Abstract
Objective To evaluate the mechanism and level of upper airway obstruction in obstructive sleep apnea (OSA) patients during natural sleep, together with synchronous electroencephalogram and respiratory events registration at 3-Tesla magnetic resonance imaging (MRI) platform with high spatial and temporal resolution. Study Design A prospective cohort study of 20 randomly selected OSA patients. Methods Fifteen of 20 patients were able to complete spontaneous sleep during MRI. While asleep, dynamic MR images of pharynx were obtained in the midline sagittal view. During the scan, nasal and oral airflow, thoracoabdominal wall effort, and electroencephalogram were synchronously recorded. The physiologic data were retrospectively scored to identify periods of apneas and synchronized with dynamic MR images. Results In all 15 patients, the site of complete airway obstruction occurred at the retropalatal space. We noticed different positions of the soft palate during apneic events. In seven of 15 patients (47%), the soft palate was attached to the tongue base and moved backward, compressing the airway. In five of 15 patients (33%), the soft palate was detached from the tongue base and solely moved backward, compressing the airway. In three patients (20%), we recorded both mechanisms of complete airway obstruction. In cases with attached soft palate to the tongue base, we noticed significant narrowing of the retrolingual space during apneic events. Conclusion We describe a novel mechanism of obstruction dependent on the position of soft palate. This mechanism might play an important role in selecting candidates for surgery or treatment with hypoglossal nerve stimulation. Level of Evidence 2b. Laryngoscope, 125:1485-1490, 2015 [ABSTRACT FROM AUTHOR]
- Published
- 2015
- Full Text
- View/download PDF
24. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy patients
- Author
-
Laura Costa-Comellas, Chiara Panicucci, Ana Camacho-Salas, Ulrike Schara, Claudio Semplicini, Isabel Illa, Arturo Fraga-Bau, Leroy ten Dam, Jan De Bleecker, Lea Leonardis, Jesper Helbo Storgaard, Juan Carlos de Leon-Hernández, Vittoria Zangaro, Giacomo P. Comi, Vincenzo Nigro, Adele D'Amico, Benedikt Schoser, Pia Gallano, Manuela Santos, Edoardo Malfatti, Cristina Domínguez-González, F. Munell, De Vos Elke, Alicia Alonso-Jimenez, Matteo Garibaldi, Bjarne Udd, Nicoline Løkken, A. J. van der Kooi, Giorgio Tasca, John Vissing, Jordi Díaz-Manera, Elena Pegoraro, Andrea Gangfuß, Jorge Alonso-Pérez, Claudia Weiss, Luisa Politano, Marie Rohlenová, Cristina Garrido, David Gómez-Andrés, Jana Haberlová, Roberto Fernández-Torrón, Gabriele Dekomien, Kristl G. Claeys, Marianne de Visser, Andrés Nascimento, Michela Guglieri, Carlos Ortez, Isabelle Richard, Lidia Gonzalez-Quereda, Béla Melegh, Claudio Bruno, Omar Abdel-Mannan, Anna Sarkozy, Adolfo López de Munain, Blaz Koritnik, Nicolas Deconinck, Kinga Hadzsiev, Luca Bello, Johanna Palmio, Volker Straub, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Neurology, ANS - Neuroinfection & -inflammation, Graduate School, Alonso-Pérez, Jorge, González-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, André, Ortez, Carlo, Comi, Giacomo Pietro, ten Dam, Leroy, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuß, Andrea, Løkken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andrés, David, Munell, Francina, Costa-Comellas, Laura, Haberlová, Jana, Rohlenová, Marie, Elke, De Vo, De Bleecker, Jan L, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicola, Fernández-Torrón, Roberto, López de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlo, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, and Díaz-Manera, Jordi
- Subjects
0301 basic medicine ,Registrie ,Male ,[SDV.BIO]Life Sciences [q-bio]/Biotechnology ,Medizin ,Limb girdle muscular dystrophie ,Cohort Studies ,0302 clinical medicine ,Registries ,Child ,sarcoglycan ,ComputingMilieux_MISCELLANEOUS ,treatment ,Cohort ,cohort ,Middle Aged ,limb girdle muscular dystrophies ,3. Good health ,Europe ,Child, Preschool ,registries ,Female ,Cohort study ,Sarcoglycanopathies ,Adult ,medicine.medical_specialty ,Adolescent ,03 medical and health sciences ,Young Adult ,Internal medicine ,medicine ,Humans ,Limb girdle muscular dystrophies ,Sarcoglycan ,Genetic Association Studies ,SGCA ,Aged ,Retrospective Studies ,business.industry ,Retrospective cohort study ,[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology ,medicine.disease ,Treatment ,030104 developmental biology ,Sarcoglycanopathy ,Muscular Dystrophies, Limb-Girdle ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Neurology (clinical) ,Human medicine ,Age of onset ,business ,030217 neurology & neurosurgery ,Limb-girdle muscular dystrophy - Abstract
Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. In 2016, several clinicians involved in the diagnosis, management and care of patients with LGMDR3–6 created a European Sarcoglycanopathy Consortium. The aim of the present study was to determine the clinical and genetic spectrum of a large cohort of patients with sarcoglycanopathy in Europe. This was an observational retrospective study. A total of 33 neuromuscular centres from 13 different European countries collected data of the genetically confirmed patients with sarcoglycanopathy followed-up at their centres. Demographic, genetic and clinical data were collected for this study. Data from 439 patients from 13 different countries were collected. Forty-three patients were not included in the analysis because of insufficient clinical information available. A total of 159 patients had a confirmed diagnosis of LGMDR3, 73 of LGMDR4, 157 of LGMDR5 and seven of LGMDR6. Patients with LGMDR3 had a later onset and slower progression of the disease. Cardiac involvement was most frequent in LGMDR4. Sixty per cent of LGMDR3 patients carried one of the following mutations, either in a homozygous or heterozygous state: c.229C>T, c.739G>A or c.850C>T. Similarly, the most common mutations in LMGDR5 patients were c.525delT or c.848G>A. In LGMDR4 patients the most frequent mutation was c.341C>T. We identified onset of symptoms before 10 years of age and residual protein expression lower than 30% as independent risk factors for losing ambulation before 18 years of age, in LGMDR3, LGMDR4 and LGMDR5 patients. This study reports clinical, genetic and protein data of a large European cohort of patients with sarcoglycanopathy. Improving our knowledge about these extremely rare autosomal recessive forms of LGMD was helped by a collaborative effort of neuromuscular centres across Europe. Our study provides important data on the genotype-phenotype correlation that is relevant for the design of natural history studies and upcoming interventional trials in sarcoglycanopathies.
- Published
- 2020
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.