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1. Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa

Author

Guelbert, Norberto, Espitia Segura, Oscar Mauricio, Amoretti, Carolina, Arteaga Arteaga, Angélica, Atanacio, Nora Graciela, Bazan Natacha, Sabrina, Carvalho, Ellaine Doris Fernandes, Carvalho de Andrade, Maria Denise Fernandes, Denzler, Inés María, Durand, Consuelo, Ribeiro, Erlane, Giugni, Juan Carlos, González, Gabriel, González Moron, Dolores, Guelbert, Guillermo, Hernández Rodriguez, Zulma Janneth, Embiruçu Emilia, Katiane, Kauffman, Marcelo Andrés, Mancilla, Nury Isabel, Marcon, Laureano, Marques Pereira, Alessandra, Fischinger Moura de Souza, Carolina, Muñoz, Victor Adrián, Naranjo Flórez, Ricardo Andrés, Pessoa, André Luiz, Ruiz, María Victoria, Solano Villareal, Martha Luz, Spécola, Norma, Tavera, Lina Marcela, Tello, Javiera, Troncoso Schifferli, Mónica, Ugrina, Sonia, Vaccarezza, María Magdalena, Vergara, Diane, and Villanueva, María Mercedes

Published
2024
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3. Corrigendum to “Classic and atypical late infantile neuronal ceroid lipofuscinosis in Latin America: Clinical and genetic aspects, and treatment outcome with cerliponase alfa.” [Molecular Genetics and Metabolism ReportsVolume 38 (2024) 101060]

Author

Guelbert, Norberto, Espitia Segura, Oscar Mauricio, Amoretti, Carolina, Arteaga Arteaga, Angélica, Atanacio, Nora Graciela, Bazan, Natacha Sabrina, Fernandes Carvalho, Ellaine Doris, Fernandes Carvalho de Andrade, Maria Denise, Denzler, Inés María, Durand, Consuelo, Ribeiro, Erlane, Giugni, Juan Carlos, González, Gabriel, González Moron, Dolores, Guelbert, Guillermo, Hernández Rodriguez, Zulma Janneth, Emilia, Katiane Embiruçu, Kauffman, Marcelo Andrés, Mancilla, Nury Isabel, Marcon, Laureano, Marques Pereira, Alessandra, Fischinger Moura de Souza, Carolina, Muñoz, Victor Adrián, Naranjo Flórez, Ricardo Andrés, Pessoa, André Luiz, Ruiz, María Victoria, Solano Villareal, Martha Luz, Spécola, Norma, Tavera, Lina Marcela, Tello, Javiera, Troncoso Schifferli, Mónica, Ugrina, Sonia, Vaccarezza, María Magdalena, Vergara, Diane, and Villanueva, María Mercedes

Published
2024
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4. Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy

Author

Salinas, Valeria, Vega, Patricia, Piccirilli, María Victoria, Chicco, Carla, Ciraolo, Carlos, Christiansen, Silvia, Consalvo, Damián, Perez-Maturo, Josefina, Medina, Nancy, González-Morón, Dolores, Novaro, Virginia, Perrone, Cecilia, García, María del Carmen, Agosta, Guillermo, Silva, Walter, and Kauffman, Marcelo

Published
2019
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9. Contributors

Author

Almqvist, Jessica, primary, Asadi, Amir, additional, Aziz, Qasim, additional, Balardin, Joana Bisol, additional, Ballester, Pedro, additional, Barbeiro, Hermes Vieira, additional, Barbeiro, Denise Frediani, additional, Bekri, Soumeya, additional, Belfort, Rubens, additional, Bergero, Miguel A., additional, Bester, Adri, additional, Bhattacharjee, Gargi, additional, Biazoli, Claudinei Eduardo, additional, Billeci, Lucia, additional, Biude da Silva Duarte, Graziela, additional, Blair, Alex B., additional, Braddick, Darren, additional, Brant, Rodrigo, additional, Britton, Robert A., additional, Burkhart, Richard A., additional, Byrne, J.A., additional, Cabral, Joaquim M.S., additional, Cabral, Thiago, additional, Câmara, José S., additional, Campillo-Artero, Carlos, additional, Castro Guzman, Grover Enrique, additional, Catela Ivkovic, Tina, additional, Cayún, Juan P., additional, Charoo, Naseem A., additional, Chen, Y., additional, Codari, Marina, additional, Correa, Graciely G., additional, Coto-Llerena, Mairene, additional, Couzigou, Patrice, additional, Cozetto, Daniel A., additional, Currie, Gemma, additional, Dalla-Pozza, L., additional, de Jesus, Victor N., additional, de Lara, Zabalo Manrique, additional, Delles, Christian, additional, de Miguel Beriain, Iñigo, additional, de Moura, Juliana, additional, de Paiva, Cintia S., additional, de Souza, Rodrigo G., additional, Detti, Paolo, additional, Díaz, Romina, additional, Ehrenfeld, Jesse M., additional, Faintuch, Bluma Linkowski, additional, Faintuch, Joel, additional, Faintuch, Jacob J., additional, Faintuch, Salomao, additional, Faraldo Corrêa, Telma A., additional, Farmer, Adam D., additional, Freire, Paulo J.C., additional, Fujita, Andre, additional, Garrido, Daniel, additional, Gayatri, Athalye-Jape, additional, Gohil, Nisarg, additional, Gómez de Cedrón, Marta, additional, Gonzalez Moron, Dolores, additional, Ishii, Tetsuya, additional, J. Pirtle, Claude, additional, Jain, Abhishek, additional, Jamieson, R.V., additional, Jiramongkolchai, Kim, additional, Kaiser, Thomas, additional, Kamel Boulos, Maged N., additional, Kanuri, Sri Harsha, additional, Kauffman, Marcelo A., additional, Khambhati, Khushal, additional, Khan, Mansoor A., additional, Kreutz, Rolf P., additional, Kuttolamadom, Mathew, additional, Lal, Hitesh, additional, Lima de Carvalho, Jose Ronaldo, additional, Lins, Milca R.C.R., additional, López-Campos, José Luis, additional, Louis Gehlbach, Peter, additional, Lumbreras, Blanca, additional, Mahajan, Vinit B., additional, Maia, Mauricio, additional, Mani, Indra, additional, Martinez, J. Alfredo, additional, Martinez, Pablo F., additional, Mary, Sheon, additional, Mathur, Tanmay, additional, Miranda, Cláudia C., additional, Mirnezami, Reza, additional, Ng, Charlotte K.Y., additional, Palau, Francesc, additional, Panchasara, Happy, additional, Pandian, Navaneeth K.R., additional, Park, Karen Sophia, additional, Passos, Ives Cavalcante, additional, Pastor-Valero, Maria, additional, Patella, Francesca, additional, Patralekh, Mohit Kumar, additional, Patusco, Lucas Mohr, additional, Pedrolli, Danielle B., additional, Pereira, Jorge A.M., additional, Pesapane, Filippo, additional, Pincelli, João Vitor, additional, Piscuoglio, Salvatore, additional, Ponce-Lorenzo, Jose J., additional, Porto-Figueira, Priscilla, additional, Priyadharshini, V.S., additional, Pushparaj, Peter Natesan, additional, Quiñones, Luis A., additional, Quintanilha, Bruna Jardim, additional, Rahman, Ziyaur, additional, Ramírez de Molina, Ana, additional, Ramos-Lopez, Omar, additional, Ramos, Kenneth S., additional, Rapole, Srikanth, additional, Rebello Pinho, João Renato, additional, Reis, Bruna Zavarize, additional, Rey-Lopez, Juan Pablo, additional, Ribeiro, Nathan V., additional, Rogero, Marcelo Macedo, additional, Roizenblatt, Marina, additional, Roizenblatt, Jaime, additional, Roza, Thiago Henrique, additional, Rozich, Noah S., additional, Ruffle, James K., additional, Sanjay, Patole, additional, Saraiva, Fábio P., additional, Sardanelli, Francesco, additional, Sato, João Ricardo, additional, Schutte, Aletta E., additional, Schwerdtfeger, Luke A., additional, Selahi, Amirali, additional, Sharma, Prakash Chand, additional, Shripada, Rao, additional, Silva, Patrick J., additional, Singh, Vijai, additional, Slaby, Ondrej, additional, Soares, Bruno Araujo, additional, Soriano, Francisco Garcia, additional, Souckova, Kamila, additional, Squizato, Patrick N., additional, Stabellini, Nickolas, additional, Staley, Christopher, additional, Stanke Scandelari, João Paulo, additional, Suter, Matteo B., additional, Sylvester, D.E., additional, Taware, Ravindra, additional, Tebani, Abdellah, additional, Teran, Luis M., additional, Terracciano, Luigi M., additional, Tis, Taleb Ba, additional, Tobet, Stuart A., additional, Tonacci, Alessandro, additional, Toribio-Mateas, Miguel, additional, Tsang, Stephen H., additional, Tsivaka, Dimitra, additional, Tsougos, Ioannis, additional, Vamvakas, Alexandros, additional, Varanini, Maurizio, additional, Vassiou, Katerina, additional, Vatti, Giampaolo, additional, Verma, Renu, additional, Verma, Kalyani, additional, Vittorelli, Luiz Otávio, additional, Volonté, Caterina, additional, von Flüe, Markus, additional, Wafi, Arsalan, additional, Wagatuma Bottolo, Bruna Mayumi, additional, Wei, Qingshan, additional, Zhang, Peng, additional, Zhang, Shengwei, additional, Zhu, Zhigang, additional, and Zimerman, Aline, additional

Published
2020
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12. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Author

Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Stephan, Tran, Luan T., Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, Van Spaendonk, Rosalina M.L., Naidu, Sakkubai, Pohl, Daniela, Gibson, William T., Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L., Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L., Catsman-Berrevoets, Coriene, Pinto, Pedro S., Tirupathi, Sandya, Strømme, Petter, De Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S., Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M., Innes, A. Micheil, Kauffman, Marcelo, Kirwin, Susan M., Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I., Moutton, Sebastien, Murphy, Raymond P.J., Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özklnay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R., Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K., Stevens, Cathy A., Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, Van De Warrenburg, Bart P., Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I., Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, Van Der Knaap, Marjo S., Vanderver, Adeline, Martos-Moreno, Gabriel, Polychronakos, Constantin, Wolf, Nicole I., Bernard, Geneviève, Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Stephan, Tran, Luan T., Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, Van Spaendonk, Rosalina M.L., Naidu, Sakkubai, Pohl, Daniela, Gibson, William T., Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L., Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L., Catsman-Berrevoets, Coriene, Pinto, Pedro S., Tirupathi, Sandya, Strømme, Petter, De Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S., Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M., Innes, A. Micheil, Kauffman, Marcelo, Kirwin, Susan M., Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I., Moutton, Sebastien, Murphy, Raymond P.J., Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özklnay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R., Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K., Stevens, Cathy A., Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, Van De Warrenburg, Bart P., Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I., Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, Van Der Knaap, Marjo S., Vanderver, Adeline, Martos-Moreno, Gabriel, Polychronakos, Constantin, Wolf, Nicole I., and Bernard, Geneviève

Abstract

Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. Objective: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. Design: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. Setting: This was a multicenter retrospective study using information collected from 3 predominant centers. Patients: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. Main Outcome Measures: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. Results: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. Conclusions: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder.

Published
2021

14. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Author

Pelletier, Félixe, primary, Perrier, Stefanie, additional, Cayami, Ferdy K, additional, Mirchi, Amytice, additional, Saikali, Stephan, additional, Tran, Luan T, additional, Ulrick, Nicole, additional, Guerrero, Kether, additional, Rampakakis, Emmanouil, additional, van Spaendonk, Rosalina M L, additional, Naidu, Sakkubai, additional, Pohl, Daniela, additional, Gibson, William T, additional, Demos, Michelle, additional, Goizet, Cyril, additional, Tejera-Martin, Ingrid, additional, Potic, Ana, additional, Fogel, Brent L, additional, Brais, Bernard, additional, Sylvain, Michel, additional, Sébire, Guillaume, additional, Lourenço, Charles Marques, additional, Bonkowsky, Joshua L, additional, Catsman-Berrevoets, Coriene, additional, Pinto, Pedro S, additional, Tirupathi, Sandya, additional, Strømme, Petter, additional, de Grauw, Ton, additional, Gieruszczak-Bialek, Dorota, additional, Krägeloh-Mann, Ingeborg, additional, Mierzewska, Hanna, additional, Philippi, Heike, additional, Rankin, Julia, additional, Atik, Tahir, additional, Banwell, Brenda, additional, Benko, William S, additional, Blaschek, Astrid, additional, Bley, Annette, additional, Boltshauser, Eugen, additional, Bratkovic, Drago, additional, Brozova, Klara, additional, Cimas, Icíar, additional, Clough, Christopher, additional, Corenblum, Bernard, additional, Dinopoulos, Argirios, additional, Dolan, Gail, additional, Faletra, Flavio, additional, Fernandez, Raymond, additional, Fletcher, Janice, additional, Garcia Garcia, Maria Eugenia, additional, Gasparini, Paolo, additional, Gburek-Augustat, Janina, additional, Gonzalez Moron, Dolores, additional, Hamati, Aline, additional, Harting, Inga, additional, Hertzberg, Christoph, additional, Hill, Alan, additional, Hobson, Grace M, additional, Innes, A Micheil, additional, Kauffman, Marcelo, additional, Kirwin, Susan M, additional, Kluger, Gerhard, additional, Kolditz, Petra, additional, Kotzaeridou, Urania, additional, La Piana, Roberta, additional, Liston, Eriskay, additional, McClintock, William, additional, McEntagart, Meriel, additional, McKenzie, Fiona, additional, Melançon, Serge, additional, Misbahuddin, Anjum, additional, Suri, Mohnish, additional, Monton, Fernando I, additional, Moutton, Sebastien, additional, Murphy, Raymond P J, additional, Nickel, Miriam, additional, Onay, Hüseyin, additional, Orcesi, Simona, additional, Özkınay, Ferda, additional, Patzer, Steffi, additional, Pedro, Helio, additional, Pekic, Sandra, additional, Pineda Marfa, Mercedes, additional, Pizzino, Amy, additional, Plecko, Barbara, additional, Poll-The, Bwee Tien, additional, Popovic, Vera, additional, Rating, Dietz, additional, Rioux, Marie-France, additional, Rodriguez Espinosa, Norberto, additional, Ronan, Anne, additional, Ostergaard, John R, additional, Rossignol, Elsa, additional, Sanchez-Carpintero, Rocio, additional, Schossig, Anna, additional, Senbil, Nesrin, additional, Sønderberg Roos, Laura K, additional, Stevens, Cathy A, additional, Synofzik, Matthis, additional, Sztriha, László, additional, Tibussek, Daniel, additional, Timmann, Dagmar, additional, Tonduti, Davide, additional, van de Warrenburg, Bart P, additional, Vázquez-López, Maria, additional, Venkateswaran, Sunita, additional, Wasling, Pontus, additional, Wassmer, Evangeline, additional, Webster, Richard I, additional, Wiegand, Gert, additional, Yoon, Grace, additional, Rotteveel, Joost, additional, Schiffmann, Raphael, additional, van der Knaap, Marjo S, additional, Vanderver, Adeline, additional, Martos-Moreno, Gabriel Á, additional, Polychronakos, Constantin, additional, Wolf, Nicole I, additional, and Bernard, Geneviève, additional

Published
2020
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15. Computational classifiers for predicting the short-term course of Multiple sclerosis

Author

Comi Giancarlo, Carro Ubaldo, Soto Oscar, Goñi Joaquin, Arcocha Juan, Sepulcre Jorge, Gonzalez-Moron Dolores, Bianco Mariangela, Bejarano Bartolome, Leocani Letizia, and Villoslada Pablo

Subjects
Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Background The aim of this study was to assess the diagnostic accuracy (sensitivity and specificity) of clinical, imaging and motor evoked potentials (MEP) for predicting the short-term prognosis of multiple sclerosis (MS). Methods We obtained clinical data, MRI and MEP from a prospective cohort of 51 patients and 20 matched controls followed for two years. Clinical end-points recorded were: 1) expanded disability status scale (EDSS), 2) disability progression, and 3) new relapses. We constructed computational classifiers (Bayesian, random decision-trees, simple logistic-linear regression-and neural networks) and calculated their accuracy by means of a 10-fold cross-validation method. We also validated our findings with a second cohort of 96 MS patients from a second center. Results We found that disability at baseline, grey matter volume and MEP were the variables that better correlated with clinical end-points, although their diagnostic accuracy was low. However, classifiers combining the most informative variables, namely baseline disability (EDSS), MRI lesion load and central motor conduction time (CMCT), were much more accurate in predicting future disability. Using the most informative variables (especially EDSS and CMCT) we developed a neural network (NNet) that attained a good performance for predicting the EDSS change. The predictive ability of the neural network was validated in an independent cohort obtaining similar accuracy (80%) for predicting the change in the EDSS two years later. Conclusions The usefulness of clinical variables for predicting the course of MS on an individual basis is limited, despite being associated with the disease course. By training a NNet with the most informative variables we achieved a good accuracy for predicting short-term disability.

Published
2011
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18. Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia

Author

Córdoba, Marta, Rodríguez Quiroga, Sergio Alejandro, Gonzalez Moron, Dolores, Medina, Nancy, and Kauffman, Marcelo Andres

Subjects
Exome sequencing, GRIK2, Medicina Básica, CIENCIAS MÉDICAS Y DE LA SALUD, Autism Spectrum Disorder, Genética Humana
Abstract

Fil: Córdoba, Marta. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; Argentina Fil: Rodríguez Quiroga, Sergio Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina Fil: Gonzalez Moron, Dolores. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; Argentina Fil: Medina, Nancy. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina Fil: Kauffman, Marcelo Andres. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; Argentina

Published
2015
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25. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Author

Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, and Bernard G

Subjects
Adolescent, Adult, Biological Variation, Population, Child, Child, Preschool, Cohort Studies, Cross-Sectional Studies, Endocrine System Diseases epidemiology, Endocrine System Diseases etiology, Female, Genetic Heterogeneity, Growth Disorders epidemiology, Growth Disorders etiology, Hereditary Central Nervous System Demyelinating Diseases complications, Hereditary Central Nervous System Demyelinating Diseases epidemiology, Humans, Hypogonadism epidemiology, Hypogonadism etiology, Infant, Infant, Newborn, Male, Mitochondrial Diseases complications, Mitochondrial Diseases epidemiology, Mutation, RNA Polymerase III genetics, Retrospective Studies, Young Adult, DNA-Directed RNA Polymerases genetics, Endocrine System Diseases genetics, Growth Disorders genetics, Hereditary Central Nervous System Demyelinating Diseases genetics, Mitochondrial Diseases genetics
Abstract

Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date., Objective: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy., Design: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated., Setting: This was a multicenter retrospective study using information collected from 3 predominant centers., Patients: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included., Main Outcome Measures: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts., Results: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients., Conclusions: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder., (© The Author(s) 2020. Published by Oxford University Press on behalf of the Endocrine Society.)

Published
2021
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