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2. Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity

Author

Maroofian, Reza, primary, Sarraf, Payam, additional, O’Brien, Thomas J, additional, Kamel, Mona, additional, Cakar, Arman, additional, Elkhateeb, Nour, additional, Lau, Tracy, additional, Patil, Siddaramappa Jagdish, additional, Record, Christopher J, additional, Horga, Alejandro, additional, Essid, Miriam, additional, Selim, Laila, additional, Benrhouma, Hanene, additional, Ben Younes, Thouraya, additional, Zifarelli, Giovanni, additional, Pagnamenta, Alistair T, additional, Bauer, Peter, additional, Khundadze, Mukhran, additional, Mirecki, Andrea, additional, Kamel, Sara Mahmoud, additional, Elmonem, Mohamed A, additional, Ghayoor Karimiani, Ehsan, additional, Jamshidi, Yalda, additional, Offiah, Amaka C, additional, Rossor, Alexander M, additional, Youssef-Turki, Ilhem Ben, additional, Hübner, Christian A, additional, Munot, Pinki, additional, Reilly, Mary M, additional, Brown, André E X, additional, Nagy, Sara, additional, and Houlden, Henry, additional

Published
2024
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3. Neurological presentations of COVID-19: Findings from the Spanish Society of Neurology neuroCOVID-19 registry

Author

Fernández, Alejandra Collía, Horga, Alejandro, Prieto, Ana Barragán, del Villar Igea, Ana, Núñez, Ana Urbanos, Serrano, Ángel Aledo, García, Araceli, Menéndez, Beatriz Martínez, Recasens, Bernat Bertran, Serrano, Blanca Serrano, de la Esperanza, Blanca Talavera, de la Hoz, Carlos Pablo de Fuenmayor Fernández, Juste, Carlos Tejero, Martín, Carmen Valderrama, García, Cristina Fernández, Ochoa, Marta, Íñiguez, Cristina, García, Daniel Macías, Pérez Martínez, David A., Santacruz, Débora Mª. Cerdán, Robert, Misericòrdia Floriach, Gomez, Elisabet Franquet, Puiggròs, Elsa, Álvarez, Eric Freire, Llamas, Esteban Peña, Villareal, Estibaliz, Díaz, Eva Fernández, Burguillos, Fernando Morejón, Beitia, Garazi Agirre, Gutiérrez-Gutiérrez, Gerardo, Monteiro, Guilherme Carvalho, Ygual, Guillermo Cervera, Hernández, Guillermo, Rubio, Guillermo, Alonso, Hortenia, Froiz, Iago Payo, García, Iago Rego, Peñas, Inmaculada Redondo, Pérez Sánchez, Javier R., García, Javier Tejada, Álvarez, Javier Villacieros, Domínguez, Jéssica Fernández, Etessam, Jesús Porta, Equiza, Jon, Pascual, Jorge Millán, Usieto, José Antonio Oliván, Reyes, José Antonio, Gómez, José Balseiro, Bueno, José Carlos Roche, Velasquez, Jose Luis Camacho, López, José María Barrios, Raquel Lamas, Leire Ainz, Lezama, Lidia Binela Lara, Caballero, Lorena, Davila, Lucía Galan, González, Nuria, de Antonio, Luis Alberto Rodríguez, Torres, Mª. Araceli García, Zabaleta, Maite Martinez, Rodríguez, Manuel Medina, Moragues, María Dolores, García, María Fuensanta Valero, Hernández, María, Abildúa, María José Abenza, Rabasa, María, Santos, María Rico, Usero, María, Zurdo, Martín, Más, Miguel, Maneiro, Miren, Platas, Montserrat González, Muriana, Nafría, Noelia González, Esteve, Oriol Barrachina, del Saz Saucedo, Pablo, Rocío, Vilar Ventura, Rosa M., Atienza, Saida, Navas, Sandra Rodríguez, Fernández, Santiago Fernández, Borja, Sergio, Navarro, Silvia Gil, García, Solange Kapetanovic, García, Susana, Salas, Teresa Mateos, Palasí, Toni, Cantero, Victoriano Romero, García-Azorín, David, Aguirre, María Elena Erro, Moncó, Juan Carlos García, Guijarro-Castro, Cristina, Delgado, Fernando Romero, Andrés, José Miguel Láinez, and Ezpeleta, David

Published
2021
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4. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study

Author

Vita, Giuseppe, Rizzo, Vincenzo, Russo, Massimo, Mazzeo, Anna, Gentile, Luca, Berk, John L, Brueckner, Caitlin, Lazzari, Victoria, Wiesman, Janice, DeLong, Douglas, Victory, Jennifer, Dalton, James, May, John, Gilmore, Catherine, Attarian, Shahram, Diallo, Saran, Delmont, Emilien, Pouget, Jean, Verschueren, Annie, Grapperon, Aude-Marie, Campana-Salort, Emmanuelle, Conceição, Isabel M, Lopes, Ana, Lamas, Filipa, Neves, Carlos, Castro, Jose, Pereira, Pedro, Castro, Isabel, Franco, Ana, Santos, Miguel Oliveira, de Azevedo Coutinho, Conceição, Falcao de Campos, Catarina, Coelho, Teresa, Hipólito Reis, Antonio, Correia, Nuno, Perez, Javier M, Martins da Silva, Ana, Alves, Cristina, Cardoso, Marcio, Valdrez, Katia, Monte, Julia R, Pessoa, Bernardete, Guimaraes, Nadia, Freitas, Monica, Ramalho, Joana, Ferreira, Natalia, Kuzume, Daisuke, Tard, Celine, Waucquier, Nawal, Rougeaux, Isabelle, Brice, Sylvie, Kasprzyk, Emmanuelle, Elrezzi, Elise, Meguig, Sayah, Hachulla, Eric, Gauvain, Clement, Migaud-Chervy, Maria-Claire, Deplanque, Dominique, Jozefowicz, Elsa, Lebellec, Loic, Adams, David, Balaya-Gouraya, Line, Jehan Lacour, Nathalie, Bournane, Halima, Martin, Nathalie, Elabed, Mongia, Sacko, Niamey, Boubrit, Yasmine, Gaouar, Amina, Rakotondratafika, Fetra, Théaudin-Saliou, Marie, Cauquil-Michon, Cécile, Labeyrie, Celine, Not, Adeline, Al-Salameh, Abdallah, Lecoq, Anne-Lise, Stephant, Maeva, Echaniz-Laguna, Andoni, Becquemont, Laurent, Beaudonnet, Guillemette, Algalarrondo, Vincent, Eliahou, Ludivine, Slama, Michel S, Rousseau, Antoine, Signate, Aissatou, Berthelot, Emeline, Inamo, Jocelyn, Planté-Bordeneuve, Violaine, Vervoitte, Laetitia, Focseneanu, Cecile, Gendre, Thierry, Arrouasse, Raphaele, Ayache, Samar S., Ernande, Laura, Le Corvoisier, Philippe, Salhi, Hayet, Choumert, Ariane, Ehinger, Vincent, Ruiz, Julie, Charlin, Cyril, Megelin, Thomas, Brannagan III, Thomas H, Fayerman, Raisy, Kim, Arreum, Paras, Allan, Gonzalez, Leidy J, Tsang, Steven, Wajnsztajn, Fernanda, Shije, Jeffrey, Ulane, Christina, Kleyman, Inna, Weimer, Louis, Cioroiu, Comana, Lambrianides, Sakis, Abu-Manneh, Rana, Zamba-Papanicolaou, Eleni, Agathangelou, Petros, Leonidou, Eleni, Tada, Satoshi, Fujita, Akemi, Nagai, Masahiro, Ando, Rina, Hosokawa, Yuko, Yamanishi, Yuki, Overcash, J. Scott, Giardino, Elena, Boyer, Leslie, Dang, Lien, Le, An, Nguyen, Tyler, Giang, Lien, Sellers, Peter, Tran, Leyla, Truong, Nghi, Vinas, Maita, Hrkman, Nicole, Miller, Sarah, Nguyen, David, Smith, Ashley, Pu, Helen, Li, Steve, Vuong, Thao, Dioso, Holly, Green, Sinikka, Lee, Kia, Chu, Hanh, Waters, Michael, Coskun, Derya J, Zepeda, Karla A, O'Riordan, William, Obici, Laura, Cortese, Andrea, Lozza, Alessandro, Merlini, Giampaolo, Rosti, Vittorio, Sabatelli, Mario, Bisogni, Giulia, Bernardo, Daniela, Luigetti, Marco, Di Paolantonio, Andrea, Guglielmino, Valeria, Romano, Angela, Nienhuis, Hans, Bulthuis-Kuiper, Janita, Kristen, Arnt V, Gerk, Olga, Ulbricht, Hannah, Taylor, Lenka, Meyle, Eva, Kleinschmidt, Natalia, Meyrath, David, Noe-Schwenn, Simone, Meng, Ulrike, Bauer, Ralf, aus dem Siepen, Fabian, Hein, Selina, Takahashi, Tetsuya, Oshita, Tomohiko, Koujin, Yoko, Neshige, Shuichiro, Nezu, Tomohisa, Segawa, Akiko, Ueno, Hiroki, Morino, Hiroyuki, Campistol, Josep M, Rodas Marin, Lida Maria, Blasco Pelicano, Josep Miquel, Dávila, Lucía Galán, Palacios, Marta, Pytel Cordoba, Vanesa, Guerrero Sola, Antonio, Horga, Alejandro, García Feijoo, Julián, Perez de Isla, Leopoldo, Marques Júnior, Wilson, Moscardini, Mariana, Litcanov, Debora Cristina, Viera Lima, Ana Flavia, Rodrigues, Leonardo, Marques Coutinho, Barbara, Moreira, Carolina Lavigne, Daccach Marques, Vanessa, Munoz Beamud, Francisco, Gragera Martínez, Álvaro, Borrachero, Cristina, Losada López, Inés Asunción, Cisneros Barroso, Eugenia, Rodríguez Rodríguez, Adrián, Sanz, Monica, Rigo Oliver, Elena, González Moreno, Juan, Gamez Martinez, Jose M, Descals, Cristina, Uson, Mercedes, Jose Vega, Francisco, Figuerola, Antoni, Montala, Carles, Waddington-Cruz, Márcia, Dias da Silva, Moises, Gervais de Santa Rosa, Renata, Pinto, Luiz Felipe, Pinto, Marcus Vinicius, Cardoso Berensztejn, Amanda, Barroso, Fabio, Lautre, Andrea, Orellana, Lucas G, González-Duarte Briseño, Maria Alejandra, Cárdenas-Soto, Karla, Jiménez López, Brenda Poled, Pérez-Castañeda, Sandra Lorena, Cantú Brito, Carlos Gerardo, Rivera de la Parra, David, Hernandez Reyes, Jose Pablo, del Mar Saniger Alba, Maria, Criollo Mora, Elia, Parman, Yesim, Rezzan, Kus Jülide, Sahin, Erdi, Serbest, Nail G, Durmus, Hacer, Cakar, Arman, Tugal Tutkun, Nuriye Ilknur, Karamursel, Sacit, Elitok, Ali, Sirin Inan, Nermin G, Altinkurt, Emre, Polydefkis, Michael, Ye, Jing, Allen, Adriane C, Chaudhry, Vinay, Jarrett, Raquel, Bressler, Neil, Burks, Kathleen L, Liu, Qingfeng, Khoshnoodi, Mohammad, Judge, Daniel P, Vista, Geno, Shah, Syed Mahmood, Hamaguchi, Hirotoshi, Oda, Junko, Fukase, Emi, Taniguchi, Ikuko, Oda, Tetsuya, Endo, Hironobu, Shimomura, Masahiro, Katanazaka, Kimitaka, Koto, Shusuke, Nakano, Takahiro, Scheid, Christof, Zueiter, Andreas, Pester, Lars, Walter, Doreen, Özdemir, Betül, Frenzel, Lukas F, Holtick, Udo, Oh, Jeeyoung, Kim, Hee Jin, Shin, Hyun Jin, Choi, Kyomin, Yamashita, Taro, Ueda, Mitsuharu, Masuda, Teruaki, Misumi, Yohei, Ueda, Akihiko, Nakahara, Keiichi, Yorita, Akiko, Tsuruhisa, Seiko, Taniwaki, Takayuki, Harada, Masaya, Moritaka, Taiga, Sakurada, Naonori, Mauricio, Elizabeth A, Baskin, Amber, Dimberg, Elliot, Dispenzieri, Angela, Fonder, Amie, Hobbs, Miriam, Russell, Stephen J, Dyck, Peter, Gonsalves, Wilson, Leung, Nelson, Witzig, Thomas E, Zeldenrust, Steven R, Hwa, Lisa, Kapoor, Prashant, Kumar, Shaji K, Lin, Yi, Lust, John A, Rajkumar, Vincent S, Dingli, David, Gertz, Morie A, Go, Ronald, Hayman, Suzanne R, Dalia, Samir, Carrillo, Esmeralda, Gorevic, Peter, Mason, Garnette, Chao, Chi-Chao, Lee, Ming-Jen, Su, Jen-Jen, Hsieh, Sung-Tsang, Tsai, Li-Kai, Yeh, Shin-Joe, Yang, Chih-Chao, Ajroud-Driss, Senda Ajroud-Driss, Casey, Patricia, Joslin, Benjamin C, Freimer, Miriam, Sankey, Alison, Kenepp, Amanda, Heintzman, Sarah, LoRusso, Samantha, Hokezu, Youichi, Kim, Byoung-Joon, Kim, JuHyeon, Lee, Ga Yeon, Cho, Eun Bin, Jeon, Eun-Seok, Min, Ju-Hong, Seok, Jin Myoung, Lee, Hye Lim, Park, Jae Hong, Sekijima, Yoshiki, Miyazawa, Chinatsu, Kato, Nagaaki, Kishida, Dai, Hineno, Akiyo, Kodaira, Minori, Yoshinaga, Tsuneaki, Miyahara, Teruyoshi, Imai, Akira, Matsumoto, Kazuhiko, Lin, Kon-Ping, Lee, Yi-Chung, Wixner, Jonas, Falk, Malin, Pilebro, Bjorn, Suhr, Ole, Lindqvist, Per, Soderberg, Karin, Pedrosa-Domellöf, Fatima, Anan, Intissar, Nordh, Erik, Tournev, Ivaylo, Zhelyazkova-Glaveeva, Sashka, Cherneva, Zheyna, Sarafov, Staiko, Chamova, Teodora, Cherninkova-Gopina, Sylvia, Schmidt, Hartmut H, Friebel, Frauke, Zibert, Andree, Mihailovic, Natasa, Schubert, Friederike, Vorona, Elena, Lahme, Larissa, Huesing-Kabar, Anna, Schilling, Matthias, Kabar, Iyad, Gillmore, Julian D, Martinez-Naharro, Ana, Chacko, Liza, Cohen, Oliver, Law, Steven, Rezk, Tamer, Lachmann, Helen J, Quan, Dianna, Blume, Brianna, Dixon, Stacy, Low, Soon Chai, Chan, Soo Looi, Lim, He Eng Li, Goh, Khean Jin, Mezei, Michelle M, Kraus, Deborah, Jack, Kristin, Wade, N. Kevin, Lopate, Glenn, Zwijack, Brittany, Florence, Julaine, Sommerville, R. Brian, Stewart, Graeme, Ryder, Julie, Mekhael, Linda, Taylor, Mark, Suan, Daniel, Wells, Karen, Stone, Paula, Itoya, Amenze, Owusu-Sekyere, Mercy, Thai, Desmond, Chahine, Ilonah, Pedrosa, Salve, Do, Thi Hoa (Therese), González-Duarte, Alejandra, Kyriakides, Theodoros, Ajroud-Driss, Senda, Mauricio, Elizabeth, Brannagan, Thomas H, III, Aldinc, Emre, Wang, Jing Jing, White, Matthew T, Vest, John, Berber, Erhan, and Sweetser, Marianne T

Published
2021
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5. Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease

Author

Horga, Alejandro, Manole, Andreea, Mitchell, Alice L., Bugiardini, Enrico, Hargreaves, Iain P., Mowafi, Walied, Bettencourt, Conceição, Blakely, Emma L., He, Langping, Polke, James M., Woodward, Catherine E., Dalla Rosa, Ilaria, Shah, Sachit, Pittman, Alan M., Quinlivan, Ros, Reilly, Mary M., Taylor, Robert W., Holt, Ian J., Hanna, Michael G., Pitceathly, Robert D. S., Spinazzola, Antonella, and Houlden, Henry

Published
2021
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6. RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.

Author

Maroofian, Reza, Sarraf, Payam, O'Brien, Thomas J, Kamel, Mona, Cakar, Arman, Elkhateeb, Nour, Lau, Tracy, Patil, Siddaramappa Jagdish, Record, Christopher J, Horga, Alejandro, Essid, Miriam, Selim, Laila, Benrhouma, Hanene, Younes, Thouraya Ben, Zifarelli, Giovanni, Pagnamenta, Alistair T, Bauer, Peter, Khundadze, Mukhran, Mirecki, Andrea, and Kamel, Sara Mahmoud

Subjects
MOTOR neuron diseases, NERVE conduction studies, SPASTICITY, SPASTIC paralysis, FAMILIAL spastic paraplegia, DISEASE duration, SARCOPLASMIC reticulum
Abstract

Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic paraplegia (SPG12-OMIM:604805) with a variable age of onset. Nevertheless, the definitive validity of SPG12 remains to be confidently confirmed due to the scarcity of supporting evidence. In this study, we identified and validated seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven consanguineous families with distal hereditary motor neuropathy (dHMN) using exome, genome and Sanger sequencing coupled with deep-phenotyping. All affected individuals (seven males and seven females, aged 9–50 years) exhibited weakness in the distal upper and lower limbs, lower limb spasticity and hyperreflexia, with onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography. Despite a slowly progressive disease course, all patients remained ambulatory over a mean disease duration of 19.71 ± 13.70 years. Characterization of Caenorhabditis elegans RTN2 homologous loss-of-function variants demonstrated morphological and behavioural differences compared with the parental strain. Treatment of the mutant with an endoplasmic/sarcoplasmic reticulum Ca2+ reuptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences, suggesting a potential therapeutic benefit for RTN2-disorder. Despite RTN2 being an endoplasmic reticulum (ER)-resident membrane shaping protein, our analysis of patient fibroblast cells did not find significant alterations in ER structure or the response to ER stress. Our findings delineate a distinct form of autosomal recessive dHMN with pyramidal features associated with RTN2 deficiency. This phenotype shares similarities with SIGMAR1-related dHMN and Silver-like syndromes, providing valuable insights into the clinical spectrum and potential therapeutic strategies for RTN2-related dHMN. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

Author

Horga, Alejandro, Woodward, Catherine E., Mills, Alberto, Pareés, Isabel, Hargreaves, Iain P., Brown, Ruth M., Bugiardini, Enrico, Brooks, Tony, Manole, Andreea, Remzova, Elena, Rahman, Shamima, Reilly, Mary M., Houlden, Henry, Sweeney, Mary G., Brown, Garry K., Polke, James M., Gago, Federico, Parton, Matthew J., Pitceathly, Robert D. S., and Hanna, Michael G.

Published
2019
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13. Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

Author

Bugiardini, Enrico, Bottani, Emanuela, Marchet, Silvia, Poole, Olivia V., Beninca, Cristiane, Horga, Alejandro, Woodward, Cathy, Lam, Amanda, Hargreaves, Iain, Chalasani, Annapurna, Valerio, Alessandra, Lamantea, Eleonora, Venner, Kerrie, Holton, Janice L., Zeviani, Massimo, Houlden, Henry, Quinlivan, Rosaline, Lamperti, Costanza, Hanna, Michael G., and Pitceathly, Robert D.S.

Published
2020
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15. Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy

Author

Horga, Alejandro, Bugiardini, Enrico, Manole, Andreea, Bremner, Fion, Jaunmuktane, Zane, Dankwa, Lois, Rebelo, Adriana P., Woodward, Catherine E., Hargreaves, Iain P., Cortese, Andrea, Pittman, Alan M., Brandner, Sebastian, Polke, James M., Pitceathly, Robert D.S., Züchner, Stephan, Hanna, Michael G., Scherer, Steven S., Houlden, Henry, and Reilly, Mary M.

Published
2019
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16. Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry

Author

Holt, James, Pritchard, Jane, Wall, Jasmine, Gamez, Josep, Oktay, YAVUZ, Macken, William L, Nesbitt, Victoria, Sansone, Valeria, Evangelista, Teresinha, Watson-Fargie, Taylor, Keddie, Stephen, Ramaratnam, Sridharan, Desai, Soaham, Yareeda, Sireesha, Rinaldi, Simon, Raga, Sharika, Menon R, Sarath, Sasidharan, Sandhya, Neshuku, Saara, Keh, Ryan, Geraldes, Ruth, Paterson, Ross W, Nortley, Ross, McFarland, Robert, Horvath, Rita, Thomas, Rhys H, Mehta, Puja R, Ambrose, Philip, Chinnery, Patrick F, Price, Olivia, Musumeci, Olimpia, Janssen, Mirian, Mancuso, Michelangelo, Dhamne, Megha, Zosmer, Maya, Ciocca, Matteo, Laura, Matilde, Skorupinska, Mariola, Househam, Liz, Clayton, Lisa, Saavedra, Lillian, Brennan, Kathryn, Wannop, Kate, Shakthi, K J S, Pizzamiglio, Chiara, Pitceathly, Robert D S, Lunn, Michael P, Brady, Stefen, De Marchi, Fabiola, Galan, Lucia, Heckmann, Jeannine M, Horga, Alejandro, Molnar, Maria J, Oliveira, Acary S B, Pinto, Wladimir B V R, Primiano, Guido, Santos, Ernestina, Schoser, Benedikt, Servidei, Serenella, Sgobbi Souza, Paulo V, Venugopalan, Vishnu, Hanna, Michael G, Dimachkie, Mazen M, Machado, Pedro M, Lim, Albert, Elsaddig, Amar, Juanatey, Ana, Romeiro, Ana, Themistocleous, Andreas, Kiss-Csenki, Annamaria, Guerrero Sola, Antonio, Patil, Anuja, Duggal, Ashish, Gabriel, Carolyn, Marshall, Charles, Record, Christopher, Allen, Claire, Bearden, David, Rathna Sabapathi, DeviPriya, R, Dileep, Vecchio, Domizia, Newman, Edward, Eshun, Edwin, Foo, Eng C, Bugiardini, Enrico, Burke, Georgina, Ramdharry, Gita, Gorman, Gràinne S, Kumar, Guru, Sivasathiaseelan, Harri, Braga Farias, Igor, Smuts, Izelle, and Groothuis, Jan T

Subjects
Male, Oxygen, Neurology, SARS-CoV-2, Humans, COVID-19, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Female, Neuromuscular Diseases, Registries, Neurology (clinical), Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]
Abstract

Contains fulltext : 291815.pdf (Publisher’s version ) (Open Access) BACKGROUND AND PURPOSE: Clinical outcome information on patients with neuromuscular diseases (NMDs) who have been infected with SARS-CoV-2 is limited. The aim of this study was to determine factors associated with the severity of COVID-19 outcomes in people with NMDs. METHODS: Cases of NMD, of any age, and confirmed/presumptive COVID-19, submitted to the International Neuromuscular COVID-19 Registry up to 31 December 2021, were included. A mutually exclusive ordinal COVID-19 severity scale was defined as follows: (1) no hospitalization; (2) hospitalization without oxygenation; (3) hospitalization with ventilation/oxygenation; and (4) death. Multivariable ordinal logistic regression analyses were used to estimate odds ratios (ORs) for severe outcome, adjusting for age, sex, race/ethnicity, NMD, comorbidities, baseline functional status (modified Rankin scale [mRS]), use of immunosuppressive/immunomodulatory medication, and pandemic calendar period. RESULTS: Of 315 patients from 13 countries (mean age 50.3 [±17.7] years, 154 [48.9%] female), 175 (55.5%) were not hospitalized, 27 (8.6%) were hospitalized without supplemental oxygen, 91 (28.9%) were hospitalized with ventilation/supplemental oxygen, and 22 (7%) died. Higher odds of severe COVID-19 outcomes were observed for: age ≥50 years (50-64 years: OR 2.4, 95% confidence interval [CI] 1.33-4.31; >64 years: OR 4.16, 95% CI 2.12-8.15; both vs.

Published
2023

19. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

Author

Kaiyrzhanov, Rauan, primary, Mohammed, Sami E.M., additional, Maroofian, Reza, additional, Husain, Ralf A., additional, Catania, Alessia, additional, Torraco, Alessandra, additional, Alahmad, Ahmad, additional, Dutra-Clarke, Marina, additional, Grønborg, Sabine, additional, Sudarsanam, Annapurna, additional, Vogt, Julie, additional, Arrigoni, Filippo, additional, Baptista, Julia, additional, Haider, Shahzad, additional, Feichtinger, René G., additional, Bernardi, Paolo, additional, Zulian, Alessandra, additional, Gusic, Mirjana, additional, Efthymiou, Stephanie, additional, Bai, Renkui, additional, Bibi, Farah, additional, Horga, Alejandro, additional, Martinez-Agosto, Julian A., additional, Lam, Amanda, additional, Manole, Andreea, additional, Rodriguez, Diego-Perez, additional, Durigon, Romina, additional, Pyle, Angela, additional, Albash, Buthaina, additional, Dionisi-Vici, Carlo, additional, Murphy, David, additional, Martinelli, Diego, additional, Bugiardini, Enrico, additional, Allis, Katrina, additional, Lamperti, Costanza, additional, Reipert, Siegfried, additional, Risom, Lotte, additional, Laugwitz, Lucia, additional, Di Nottia, Michela, additional, McFarland, Robert, additional, Vilarinho, Laura, additional, Hanna, Michael, additional, Prokisch, Holger, additional, Mayr, Johannes A., additional, Bertini, Enrico Silvio, additional, Ghezzi, Daniele, additional, Østergaard, Elsebet, additional, Wortmann, Saskia B., additional, Carrozzo, Rosalba, additional, Haack, Tobias B., additional, Taylor, Robert W., additional, Spinazzola, Antonella, additional, Nowikovsky, Karin, additional, and Houlden, Henry, additional

Published
2022
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21. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

Author

Kaiyrzhanov, Rauan, Mohammed, Sami E.M., Maroofian, Reza, Husain, Ralf A., Catania, Alessia, Torraco, Alessandra, Alahmad, Ahmad, Dutra-Clarke, Marina, Grønborg, Sabine, Sudarsanam, Annapurna, Vogt, Julie, Arrigoni, Filippo, Baptista, Julia, Haider, Shahzad, Feichtinger, René G., Bernardi, Paolo, Zulian, Alessandra, Gusic, Mirjana, Efthymiou, Stephanie, Bai, Renkui, Bibi, Farah, Horga, Alejandro, Martinez-Agosto, Julian A., Lam, Amanda, Manole, Andreea, Rodriguez, Diego Perez, Durigon, Romina, Pyle, Angela, Albash, Buthaina, Dionisi-Vici, Carlo, Murphy, David, Martinelli, Diego, Bugiardini, Enrico, Allis, Katrina, Lamperti, Costanza, Reipert, Siegfried, Risom, Lotte, Laugwitz, Lucia, Di Nottia, Michela, McFarland, Robert, Vilarinho, Laura, Hanna, Michael, Prokisch, Holger, Mayr, Johannes A., Bertini, Enrico Silvio, Ghezzi, Daniele, Østergaard, Elsebet, Wortmann, Saskia B., Carrozzo, Rosalba, Haack, Tobias B., Taylor, Robert W., Spinazzola, Antonella, Nowikovsky, Karin, Houlden, Henry, Kaiyrzhanov, Rauan, Mohammed, Sami E.M., Maroofian, Reza, Husain, Ralf A., Catania, Alessia, Torraco, Alessandra, Alahmad, Ahmad, Dutra-Clarke, Marina, Grønborg, Sabine, Sudarsanam, Annapurna, Vogt, Julie, Arrigoni, Filippo, Baptista, Julia, Haider, Shahzad, Feichtinger, René G., Bernardi, Paolo, Zulian, Alessandra, Gusic, Mirjana, Efthymiou, Stephanie, Bai, Renkui, Bibi, Farah, Horga, Alejandro, Martinez-Agosto, Julian A., Lam, Amanda, Manole, Andreea, Rodriguez, Diego Perez, Durigon, Romina, Pyle, Angela, Albash, Buthaina, Dionisi-Vici, Carlo, Murphy, David, Martinelli, Diego, Bugiardini, Enrico, Allis, Katrina, Lamperti, Costanza, Reipert, Siegfried, Risom, Lotte, Laugwitz, Lucia, Di Nottia, Michela, McFarland, Robert, Vilarinho, Laura, Hanna, Michael, Prokisch, Holger, Mayr, Johannes A., Bertini, Enrico Silvio, Ghezzi, Daniele, Østergaard, Elsebet, Wortmann, Saskia B., Carrozzo, Rosalba, Haack, Tobias B., Taylor, Robert W., Spinazzola, Antonella, Nowikovsky, Karin, and Houlden, Henry

Abstract

Leucine zipper-EF-hand containing transmembrane protein 1 (LETM1) encodes an inner mitochondrial membrane protein with an osmoregulatory function controlling mitochondrial volume and ion homeostasis. The putative association of LETM1 with a human disease was initially suggested in Wolf-Hirschhorn syndrome, a disorder that results from de novo monoallelic deletion of chromosome 4p16.3, a region encompassing LETM1. Utilizing exome sequencing and international gene-matching efforts, we have identified 18 affected individuals from 11 unrelated families harboring ultra-rare bi-allelic missense and loss-of-function LETM1 variants and clinical presentations highly suggestive of mitochondrial disease. These manifested as a spectrum of predominantly infantile-onset (14/18, 78%) and variably progressive neurological, metabolic, and dysmorphic symptoms, plus multiple organ dysfunction associated with neurodegeneration. The common features included respiratory chain complex deficiencies (100%), global developmental delay (94%), optic atrophy (83%), sensorineural hearing loss (78%), and cerebellar ataxia (78%) followed by epilepsy (67%), spasticity (53%), and myopathy (50%). Other features included bilateral cataracts (42%), cardiomyopathy (36%), and diabetes (27%). To better understand the pathogenic mechanism of the identified LETM1 variants, we performed biochemical and morphological studies on mitochondrial K+/H+ exchange activity, proteins, and shape in proband-derived fibroblasts and muscles and in Saccharomyces cerevisiae, which is an important model organism for mitochondrial osmotic regulation. Our results demonstrate that bi-allelic LETM1 variants are associated with defective mitochondrial K+ efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components, thus highlighting the implication of perturbed mitochondrial osmoregulation caused by LETM1 variants in neurologi

Published
2022

22. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

Author

Manole, Andreea, Jaunmuktane, Zane, Hargreaves, Iain, Ludtmann, Marthe H R, Salpietro, Vincenzo, Bello, Oscar D, Pope, Simon, Pandraud, Amelie, Horga, Alejandro, Scalco, Renata S, Li, Abi, Ashokkumar, Balasubramaniem, Lourenço, Charles M, Heales, Simon, Horvath, Rita, Chinnery, Patrick F, Toro, Camilo, Singleton, Andrew B, Jacques, Thomas S, Abramov, Andrey Y, Muntoni, Francesco, Hanna, Michael G, Reilly, Mary M, Revesz, Tamas, Kullmann, Dimitri M, Jepson, James E C, and Houlden, Henry

Published
2017
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28. Factors associated with the severity of COVID‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID‐19 Registry.

Author

Pizzamiglio, Chiara, Pitceathly, Robert D. S., Lunn, Michael P., Brady, Stefen, De Marchi, Fabiola, Galan, Lucia, Heckmann, Jeannine M., Horga, Alejandro, Molnar, Maria J., Oliveira, Acary S. B., Pinto, Wladimir B. V. R., Primiano, Guido, Santos, Ernestina, Schoser, Benedikt, Servidei, Serenella, Sgobbi Souza, Paulo V., Venugopalan, Vishnu, Hanna, Michael G., Dimachkie, Mazen M., and Machado, Pedro M.

Subjects
NEUROMUSCULAR diseases, COVID-19, LOGISTIC regression analysis, DISABILITIES, GUILLAIN-Barre syndrome, MITOCHONDRIAL pathology
Abstract

Background and purpose: Clinical outcome information on patients with neuromuscular diseases (NMDs) who have been infected with SARS‐CoV‐2 is limited. The aim of this study was to determine factors associated with the severity of COVID‐19 outcomes in people with NMDs. Methods: Cases of NMD, of any age, and confirmed/presumptive COVID‐19, submitted to the International Neuromuscular COVID‐19 Registry up to 31 December 2021, were included. A mutually exclusive ordinal COVID‐19 severity scale was defined as follows: (1) no hospitalization; (2) hospitalization without oxygenation; (3) hospitalization with ventilation/oxygenation; and (4) death. Multivariable ordinal logistic regression analyses were used to estimate odds ratios (ORs) for severe outcome, adjusting for age, sex, race/ethnicity, NMD, comorbidities, baseline functional status (modified Rankin scale [mRS]), use of immunosuppressive/immunomodulatory medication, and pandemic calendar period. Results: Of 315 patients from 13 countries (mean age 50.3 [±17.7] years, 154 [48.9%] female), 175 (55.5%) were not hospitalized, 27 (8.6%) were hospitalized without supplemental oxygen, 91 (28.9%) were hospitalized with ventilation/supplemental oxygen, and 22 (7%) died. Higher odds of severe COVID‐19 outcomes were observed for: age ≥50 years (50–64 years: OR 2.4, 95% confidence interval [CI] 1.33–4.31; >64 years: OR 4.16, 95% CI 2.12–8.15; both vs. <50 years); non‐White race/ethnicity (OR 1.81, 95% CI 1.07–3.06; vs. White); mRS moderately severe/severe disability (OR 3.02, 95% CI 1.6–5.69; vs. no/slight/moderate disability); history of respiratory dysfunction (OR 3.16, 95% CI 1.79–5.58); obesity (OR 2.24, 95% CI 1.18–4.25); ≥3 comorbidities (OR 3.2, 95% CI 1.76–5.83; vs. ≤2; if comorbidity count used instead of specific comorbidities); glucocorticoid treatment (OR 2.33, 95% CI 1.14–4.78); and Guillain–Barré syndrome (OR 3.1, 95% CI 1.35–7.13; vs. mitochondrial disease). Conclusions: Among people with NMDs, there is a differential risk of COVID‐19 outcomes according to demographic and clinical characteristics. These findings could be used to develop tailored management strategies and evidence‐based recommendations for NMD patients. [ABSTRACT FROM AUTHOR]

Published
2023
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29. Mitochondrial disease and COVID-19: An international cohort study confirms risks and long-term outcomes

Author

Pizzamiglio, Chiara, Jonvik, Hallgeir, Brady, Stefen, Chinnery, Patrick, Galàn, Lucía, Gorman, Grainne, Horga, Alejandro, Horvath, Rita, Janssen, Mirian, Lim, Albert, Mancuso, Michelangelo, Mcfarland, Robert, Molnar, Maria, Musumeci, Olimpia, Nesbitt, Victoria, Wladimir, Primiano, Guido, Santos, Ernestina, Servidei, Serenella, Thomas, Rhys, Hanna, Michael, Machado, Pedro, and Pitceathly, Robert

Published
2021
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32. IGHMBP2 mutation associated with organ-specific autonomic dysfunction

Author

Tomaselli, Pedro J., Horga, Alejandro, Rossor, Alexander M., Jaunmuktane, Zane, Cortese, Andrea, Blake, Julian C., Zarate-Lopez, Natalia, Houlden, Henry, and Reilly, Mary M.

Subjects
Adult, Muscle Weakness, CMT, DNA Mutational Analysis, Mutation, Missense, Neural Conduction, High-Throughput Nucleotide Sequencing, macromolecular substances, Article, DNA-Binding Proteins, Target multigene panel, Autonomic Nervous System Diseases, SMARD1, Next generation sequencing, IGHMBP2 gene, Humans, Female, Muscle, Skeletal, Transcription Factors
Abstract

Highlights • Novel IGHMBP2 variant found in a patient with early onset severe peripheral neuropathy. • IGHMBP2 mutations may cause enteral autonomic dysfunction. • Autonomic dysfunction in IGHMBP2-related disorders may be severe requiring parenteral nutrition., Biallelic mutations in the IGHMBP2 have been associated with two distinct phenotypes: spinal muscular atrophy with respiratory distress type 1 (SMARD1) and CMT2S. We describe a patient who developed progressive muscle weakness and wasting in her upper and lower limbs from infancy. She developed respiratory involvement at age 9, eventually requiring 24-h non-invasive ventilation, and severe autonomic dysfunction restricted to the gastrointestinal tract. Neurophysiological studies at age 27 years revealed absent sensory and motor responses and severe chronic denervation changes in proximal muscles of the upper limbs. Targeted multigene panel sequencing detected a novel homozygous missense variant in the IGHMBP2 gene (c.1325A > G; p.Tyr442Cys). This variant was validated by Sanger sequencing and co-segregation analysis confirmed that both parents were asymptomatic heterozygous carriers. This case report confirms that IGHMBP2 related disorders can result in a severe peripheral neuropathy with gastrointestinal autonomic dysfunction requiring parenteral nutrition.

Published
2018

33. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study

Author

Adams, David, primary, Polydefkis, Michael, additional, González-Duarte, Alejandra, additional, Wixner, Jonas, additional, Kristen, Arnt V, additional, Schmidt, Hartmut H, additional, Berk, John L, additional, Losada López, Inés Asunción, additional, Dispenzieri, Angela, additional, Quan, Dianna, additional, Conceição, Isabel M, additional, Slama, Michel S, additional, Gillmore, Julian D, additional, Kyriakides, Theodoros, additional, Ajroud-Driss, Senda, additional, Waddington-Cruz, Márcia, additional, Mezei, Michelle M, additional, Planté-Bordeneuve, Violaine, additional, Attarian, Shahram, additional, Mauricio, Elizabeth, additional, Brannagan, Thomas H, additional, Ueda, Mitsuharu, additional, Aldinc, Emre, additional, Wang, Jing Jing, additional, White, Matthew T, additional, Vest, John, additional, Berber, Erhan, additional, Sweetser, Marianne T, additional, Coelho, Teresa, additional, Vita, Giuseppe, additional, Rizzo, Vincenzo, additional, Russo, Massimo, additional, Mazzeo, Anna, additional, Gentile, Luca, additional, Brueckner, Caitlin, additional, Lazzari, Victoria, additional, Wiesman, Janice, additional, DeLong, Douglas, additional, Victory, Jennifer, additional, Dalton, James, additional, May, John, additional, Gilmore, Catherine, additional, Diallo, Saran, additional, Delmont, Emilien, additional, Pouget, Jean, additional, Verschueren, Annie, additional, Grapperon, Aude-Marie, additional, Campana-Salort, Emmanuelle, additional, Lopes, Ana, additional, Lamas, Filipa, additional, Neves, Carlos, additional, Castro, Jose, additional, Pereira, Pedro, additional, Castro, Isabel, additional, Franco, Ana, additional, Santos, Miguel Oliveira, additional, de Azevedo Coutinho, Conceição, additional, Falcao de Campos, Catarina, additional, Hipólito Reis, Antonio, additional, Correia, Nuno, additional, Perez, Javier M, additional, Martins da Silva, Ana, additional, Alves, Cristina, additional, Cardoso, Marcio, additional, Valdrez, Katia, additional, Monte, Julia R, additional, Pessoa, Bernardete, additional, Guimaraes, Nadia, additional, Freitas, Monica, additional, Ramalho, Joana, additional, Ferreira, Natalia, additional, Kuzume, Daisuke, additional, Tard, Celine, additional, Waucquier, Nawal, additional, Rougeaux, Isabelle, additional, Brice, Sylvie, additional, Kasprzyk, Emmanuelle, additional, Elrezzi, Elise, additional, Meguig, Sayah, additional, Hachulla, Eric, additional, Gauvain, Clement, additional, Migaud-Chervy, Maria-Claire, additional, Deplanque, Dominique, additional, Jozefowicz, Elsa, additional, Lebellec, Loic, additional, Adams, David, additional, Balaya-Gouraya, Line, additional, Jehan Lacour, Nathalie, additional, Bournane, Halima, additional, Martin, Nathalie, additional, Elabed, Mongia, additional, Sacko, Niamey, additional, Boubrit, Yasmine, additional, Gaouar, Amina, additional, Rakotondratafika, Fetra, additional, Théaudin-Saliou, Marie, additional, Cauquil-Michon, Cécile, additional, Labeyrie, Celine, additional, Not, Adeline, additional, Al-Salameh, Abdallah, additional, Lecoq, Anne-Lise, additional, Stephant, Maeva, additional, Echaniz-Laguna, Andoni, additional, Becquemont, Laurent, additional, Beaudonnet, Guillemette, additional, Algalarrondo, Vincent, additional, Eliahou, Ludivine, additional, Rousseau, Antoine, additional, Signate, Aissatou, additional, Berthelot, Emeline, additional, Inamo, Jocelyn, additional, Vervoitte, Laetitia, additional, Focseneanu, Cecile, additional, Gendre, Thierry, additional, Arrouasse, Raphaele, additional, Ayache, Samar S., additional, Ernande, Laura, additional, Le Corvoisier, Philippe, additional, Salhi, Hayet, additional, Choumert, Ariane, additional, Ehinger, Vincent, additional, Ruiz, Julie, additional, Charlin, Cyril, additional, Megelin, Thomas, additional, Brannagan III, Thomas H, additional, Fayerman, Raisy, additional, Kim, Arreum, additional, Paras, Allan, additional, Gonzalez, Leidy J, additional, Tsang, Steven, additional, Wajnsztajn, Fernanda, additional, Shije, Jeffrey, additional, Ulane, Christina, additional, Kleyman, Inna, additional, Weimer, Louis, additional, Cioroiu, Comana, additional, Lambrianides, Sakis, additional, Abu-Manneh, Rana, additional, Zamba-Papanicolaou, Eleni, additional, Agathangelou, Petros, additional, Leonidou, Eleni, additional, Tada, Satoshi, additional, Fujita, Akemi, additional, Nagai, Masahiro, additional, Ando, Rina, additional, Hosokawa, Yuko, additional, Yamanishi, Yuki, additional, Overcash, J. Scott, additional, Giardino, Elena, additional, Boyer, Leslie, additional, Dang, Lien, additional, Le, An, additional, Nguyen, Tyler, additional, Giang, Lien, additional, Sellers, Peter, additional, Tran, Leyla, additional, Truong, Nghi, additional, Vinas, Maita, additional, Hrkman, Nicole, additional, Miller, Sarah, additional, Nguyen, David, additional, Smith, Ashley, additional, Pu, Helen, additional, Li, Steve, additional, Vuong, Thao, additional, Dioso, Holly, additional, Green, Sinikka, additional, Lee, Kia, additional, Chu, Hanh, additional, Waters, Michael, additional, Coskun, Derya J, additional, Zepeda, Karla A, additional, O'Riordan, William, additional, Obici, Laura, additional, Cortese, Andrea, additional, Lozza, Alessandro, additional, Merlini, Giampaolo, additional, Rosti, Vittorio, additional, Sabatelli, Mario, additional, Bisogni, Giulia, additional, Bernardo, Daniela, additional, Luigetti, Marco, additional, Di Paolantonio, Andrea, additional, Guglielmino, Valeria, additional, Romano, Angela, additional, Nienhuis, Hans, additional, Bulthuis-Kuiper, Janita, additional, Gerk, Olga, additional, Ulbricht, Hannah, additional, Taylor, Lenka, additional, Meyle, Eva, additional, Kleinschmidt, Natalia, additional, Meyrath, David, additional, Noe-Schwenn, Simone, additional, Meng, Ulrike, additional, Bauer, Ralf, additional, aus dem Siepen, Fabian, additional, Hein, Selina, additional, Takahashi, Tetsuya, additional, Oshita, Tomohiko, additional, Koujin, Yoko, additional, Neshige, Shuichiro, additional, Nezu, Tomohisa, additional, Segawa, Akiko, additional, Ueno, Hiroki, additional, Morino, Hiroyuki, additional, Campistol, Josep M, additional, Rodas Marin, Lida Maria, additional, Blasco Pelicano, Josep Miquel, additional, Dávila, Lucía Galán, additional, Palacios, Marta, additional, Pytel Cordoba, Vanesa, additional, Guerrero Sola, Antonio, additional, Horga, Alejandro, additional, García Feijoo, Julián, additional, Perez de Isla, Leopoldo, additional, Marques Júnior, Wilson, additional, Moscardini, Mariana, additional, Litcanov, Debora Cristina, additional, Viera Lima, Ana Flavia, additional, Rodrigues, Leonardo, additional, Marques Coutinho, Barbara, additional, Moreira, Carolina Lavigne, additional, Daccach Marques, Vanessa, additional, Munoz Beamud, Francisco, additional, Gragera Martínez, Álvaro, additional, Borrachero, Cristina, additional, Cisneros Barroso, Eugenia, additional, Rodríguez Rodríguez, Adrián, additional, Sanz, Monica, additional, Rigo Oliver, Elena, additional, González Moreno, Juan, additional, Gamez Martinez, Jose M, additional, Descals, Cristina, additional, Uson, Mercedes, additional, Jose Vega, Francisco, additional, Figuerola, Antoni, additional, Montala, Carles, additional, Dias da Silva, Moises, additional, Gervais de Santa Rosa, Renata, additional, Pinto, Luiz Felipe, additional, Pinto, Marcus Vinicius, additional, Cardoso Berensztejn, Amanda, additional, Barroso, Fabio, additional, Lautre, Andrea, additional, Orellana, Lucas G, additional, González-Duarte Briseño, Maria Alejandra, additional, Cárdenas-Soto, Karla, additional, Jiménez López, Brenda Poled, additional, Pérez-Castañeda, Sandra Lorena, additional, Cantú Brito, Carlos Gerardo, additional, Rivera de la Parra, David, additional, Hernandez Reyes, Jose Pablo, additional, del Mar Saniger Alba, Maria, additional, Criollo Mora, Elia, additional, Parman, Yesim, additional, Rezzan, Kus Jülide, additional, Sahin, Erdi, additional, Serbest, Nail G, additional, Durmus, Hacer, additional, Cakar, Arman, additional, Tugal Tutkun, Nuriye Ilknur, additional, Karamursel, Sacit, additional, Elitok, Ali, additional, Sirin Inan, Nermin G, additional, Altinkurt, Emre, additional, Ye, Jing, additional, Allen, Adriane C, additional, Chaudhry, Vinay, additional, Jarrett, Raquel, additional, Bressler, Neil, additional, Burks, Kathleen L, additional, Liu, Qingfeng, additional, Khoshnoodi, Mohammad, additional, Judge, Daniel P, additional, Vista, Geno, additional, Shah, Syed Mahmood, additional, Hamaguchi, Hirotoshi, additional, Oda, Junko, additional, Fukase, Emi, additional, Taniguchi, Ikuko, additional, Oda, Tetsuya, additional, Endo, Hironobu, additional, Shimomura, Masahiro, additional, Katanazaka, Kimitaka, additional, Koto, Shusuke, additional, Nakano, Takahiro, additional, Scheid, Christof, additional, Zueiter, Andreas, additional, Pester, Lars, additional, Walter, Doreen, additional, Özdemir, Betül, additional, Frenzel, Lukas F, additional, Holtick, Udo, additional, Oh, Jeeyoung, additional, Kim, Hee Jin, additional, Shin, Hyun Jin, additional, Choi, Kyomin, additional, Yamashita, Taro, additional, Masuda, Teruaki, additional, Misumi, Yohei, additional, Ueda, Akihiko, additional, Nakahara, Keiichi, additional, Yorita, Akiko, additional, Tsuruhisa, Seiko, additional, Taniwaki, Takayuki, additional, Harada, Masaya, additional, Moritaka, Taiga, additional, Sakurada, Naonori, additional, Mauricio, Elizabeth A, additional, Baskin, Amber, additional, Dimberg, Elliot, additional, Fonder, Amie, additional, Hobbs, Miriam, additional, Russell, Stephen J, additional, Dyck, Peter, additional, Gonsalves, Wilson, additional, Leung, Nelson, additional, Witzig, Thomas E, additional, Zeldenrust, Steven R, additional, Hwa, Lisa, additional, Kapoor, Prashant, additional, Kumar, Shaji K, additional, Lin, Yi, additional, Lust, John A, additional, Rajkumar, Vincent S, additional, Dingli, David, additional, Gertz, Morie A, additional, Go, Ronald, additional, Hayman, Suzanne R, additional, Dalia, Samir, additional, Carrillo, Esmeralda, additional, Gorevic, Peter, additional, Mason, Garnette, additional, Chao, Chi-Chao, additional, Lee, Ming-Jen, additional, Su, Jen-Jen, additional, Hsieh, Sung-Tsang, additional, Tsai, Li-Kai, additional, Yeh, Shin-Joe, additional, Yang, Chih-Chao, additional, Ajroud-Driss, Senda Ajroud-Driss, additional, Casey, Patricia, additional, Joslin, Benjamin C, additional, Freimer, Miriam, additional, Sankey, Alison, additional, Kenepp, Amanda, additional, Heintzman, Sarah, additional, LoRusso, Samantha, additional, Hokezu, Youichi, additional, Kim, Byoung-Joon, additional, Kim, JuHyeon, additional, Lee, Ga Yeon, additional, Cho, Eun Bin, additional, Jeon, Eun-Seok, additional, Min, Ju-Hong, additional, Seok, Jin Myoung, additional, Lee, Hye Lim, additional, Park, Jae Hong, additional, Sekijima, Yoshiki, additional, Miyazawa, Chinatsu, additional, Kato, Nagaaki, additional, Kishida, Dai, additional, Hineno, Akiyo, additional, Kodaira, Minori, additional, Yoshinaga, Tsuneaki, additional, Miyahara, Teruyoshi, additional, Imai, Akira, additional, Matsumoto, Kazuhiko, additional, Lin, Kon-Ping, additional, Lee, Yi-Chung, additional, Falk, Malin, additional, Pilebro, Bjorn, additional, Suhr, Ole, additional, Lindqvist, Per, additional, Soderberg, Karin, additional, Pedrosa-Domellöf, Fatima, additional, Anan, Intissar, additional, Nordh, Erik, additional, Tournev, Ivaylo, additional, Zhelyazkova-Glaveeva, Sashka, additional, Cherneva, Zheyna, additional, Sarafov, Staiko, additional, Chamova, Teodora, additional, Cherninkova-Gopina, Sylvia, additional, Friebel, Frauke, additional, Zibert, Andree, additional, Mihailovic, Natasa, additional, Schubert, Friederike, additional, Vorona, Elena, additional, Lahme, Larissa, additional, Huesing-Kabar, Anna, additional, Schilling, Matthias, additional, Kabar, Iyad, additional, Martinez-Naharro, Ana, additional, Chacko, Liza, additional, Cohen, Oliver, additional, Law, Steven, additional, Rezk, Tamer, additional, Lachmann, Helen J, additional, Blume, Brianna, additional, Dixon, Stacy, additional, Low, Soon Chai, additional, Chan, Soo Looi, additional, Lim, He Eng Li, additional, Goh, Khean Jin, additional, Kraus, Deborah, additional, Jack, Kristin, additional, Wade, N. Kevin, additional, Lopate, Glenn, additional, Zwijack, Brittany, additional, Florence, Julaine, additional, Sommerville, R. Brian, additional, Stewart, Graeme, additional, Ryder, Julie, additional, Mekhael, Linda, additional, Taylor, Mark, additional, Suan, Daniel, additional, Wells, Karen, additional, Stone, Paula, additional, Itoya, Amenze, additional, Owusu-Sekyere, Mercy, additional, Thai, Desmond, additional, Chahine, Ilonah, additional, Pedrosa, Salve, additional, and Do, Thi Hoa (Therese), additional

Published
2021
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34. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Author

Manole, Andreea, primary, Efthymiou, Stephanie, additional, O’Connor, Emer, additional, Mendes, Marisa I., additional, Jennings, Matthew, additional, Maroofian, Reza, additional, Davagnanam, Indran, additional, Mankad, Kshitij, additional, Lopez, Maria Rodriguez, additional, Salpietro, Vincenzo, additional, Harripaul, Ricardo, additional, Badalato, Lauren, additional, Walia, Jagdeep, additional, Francklyn, Christopher S., additional, Athanasiou-Fragkouli, Alkyoni, additional, Sullivan, Roisin, additional, Desai, Sonal, additional, Baranano, Kristin, additional, Zafar, Faisal, additional, Rana, Nuzhat, additional, Ilyas, Muhammed, additional, Horga, Alejandro, additional, Kara, Majdi, additional, Mattioli, Francesca, additional, Goldenberg, Alice, additional, Griffin, Helen, additional, Piton, Amelie, additional, Henderson, Lindsay B., additional, Kara, Benyekhlef, additional, Aslanger, Ayca Dilruba, additional, Raaphorst, Joost, additional, Pfundt, Rolph, additional, Portier, Ruben, additional, Shinawi, Marwan, additional, Kirby, Amelia, additional, Christensen, Katherine M., additional, Wang, Lu, additional, Rosti, Rasim O., additional, Paracha, Sohail A., additional, Sarwar, Muhammad T., additional, Jenkins, Dagan, additional, Ahmed, Jawad, additional, Santoni, Federico A., additional, Ranza, Emmanuelle, additional, Iwaszkiewicz, Justyna, additional, Cytrynbaum, Cheryl, additional, Weksberg, Rosanna, additional, Wentzensen, Ingrid M., additional, Guillen Sacoto, Maria J., additional, Si, Yue, additional, Telegrafi, Aida, additional, Andrews, Marisa V., additional, Baldridge, Dustin, additional, Gabriel, Heinz, additional, Mohr, Julia, additional, Oehl-Jaschkowitz, Barbara, additional, Debard, Sylvain, additional, Senger, Bruno, additional, Fischer, Frédéric, additional, van Ravenwaaij, Conny, additional, Fock, Annemarie J.M., additional, Stevens, Servi J.C., additional, Bähler, Jürg, additional, Nasar, Amina, additional, Mantovani, John F., additional, Manzur, Adnan, additional, Sarkozy, Anna, additional, Smith, Desirée E.C., additional, Salomons, Gajja S., additional, Ahmed, Zubair M., additional, Riazuddin, Shaikh, additional, Riazuddin, Saima, additional, Usmani, Muhammad A., additional, Seibt, Annette, additional, Ansar, Muhammad, additional, Antonarakis, Stylianos E., additional, Vincent, John B., additional, Ayub, Muhammad, additional, Grimmel, Mona, additional, Jelsig, Anne Marie, additional, Hjortshøj, Tina Duelund, additional, Karstensen, Helena Gásdal, additional, Hummel, Marybeth, additional, Haack, Tobias B., additional, Jamshidi, Yalda, additional, Distelmaier, Felix, additional, Horvath, Rita, additional, Gleeson, Joseph G., additional, Becker, Hubert, additional, Mandel, Jean-Louis, additional, Koolen, David A., additional, and Houlden, Henry, additional

Published
2020
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36. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Author

Cortese, Andrea, primary, Tozza, Stefano, additional, Yau, Wai Yan, additional, Rossi, Salvatore, additional, Beecroft, Sarah J, additional, Jaunmuktane, Zane, additional, Dyer, Zoe, additional, Ravenscroft, Gianina, additional, Lamont, Phillipa J, additional, Mossman, Stuart, additional, Chancellor, Andrew, additional, Maisonobe, Thierry, additional, Pereon, Yann, additional, Cauquil, Cecile, additional, Colnaghi, Silvia, additional, Mallucci, Giulia, additional, Curro, Riccardo, additional, Tomaselli, Pedro J, additional, Thomas-Black, Gilbert, additional, Sullivan, Roisin, additional, Efthymiou, Stephanie, additional, Rossor, Alexander M, additional, Laurá, Matilde, additional, Pipis, Menelaos, additional, Horga, Alejandro, additional, Polke, James, additional, Kaski, Diego, additional, Horvath, Rita, additional, Chinnery, Patrick F, additional, Marques, Wilson, additional, Tassorelli, Cristina, additional, Devigili, Grazia, additional, Leonardis, Lea, additional, Wood, Nick W, additional, Bronstein, Adolfo, additional, Giunti, Paola, additional, Züchner, Stephan, additional, Stojkovic, Tanya, additional, Laing, Nigel, additional, Roxburgh, Richard H, additional, Houlden, Henry, additional, and Reilly, Mary M, additional

Published
2020
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37. Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT

Author

Tomaselli, Pedro J., Rossor, Alexander M., Horga, Alejandro, Jaunmuktane, Zane, Carr, Aisling, Saveri, Paola, Piscosquito, Giuseppe, Pareyson, Davide, Laura, Matilde, Blake, Julian C., Poh, Roy, Polke, James, Houlden, Henry, and Reilly, Mary M.

Subjects
Adult, Male, Adolescent, Neural Conduction, Middle Aged, beta-Galactosidase, Magnetic Resonance Imaging, Severity of Illness Index, Article, Young Adult, Sex Factors, Charcot-Marie-Tooth Disease, Mutation, Humans, Female, Genetic Predisposition to Disease, Promoter Regions, Genetic
Abstract

Objective: To determine the prevalence and clinical and genetic characteristics of patients with X-linked Charcot-Marie-Tooth disease (CMT) due to mutations in noncoding regions of the gap junction β-1 gene (GJB1). Methods: Mutations were identified by bidirectional Sanger sequence analysis of the 595 bases of the upstream promoter region, and 25 bases of the 3′ untranslated region (UTR) sequence in patients in whom mutations in the coding region had been excluded. Clinical and neurophysiologic data were retrospectively collected. Results: Five mutations were detected in 25 individuals from 10 kindreds representing 11.4% of all cases of CMTX1 diagnosed in our neurogenetics laboratory between 1996 and 2016. Four pathogenic mutations, c.-17G>A, c.-17+1G>T, c.-103C>T, and c.-146-90_146-89insT were detected in the 5′UTR. A novel mutation, c.*15C>T, was detected in the 3′ UTR of GJB1 in 2 unrelated families with CMTX1 and is the first pathogenic mutation in the 3′UTR of any myelin-associated CMT gene. Mutations segregated with the phenotype, were at sites predicted to be pathogenic, and were not present in the normal population. Conclusions: Mutations in noncoding DNA are a major cause of CMTX1 and highlight the importance of mutations in noncoding DNA in human disease. Next-generation sequencing platforms for use in inherited neuropathy should therefore include coverage of these regions.

Published
2017

39. Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease

Author

Horga, Alejandro, Laurà, Matilde, Jaunmuktane, Zane, Jerath, Nivedita U, Gonzalez, Michael A, Polke, James M, Poh, Roy, Blake, Julian C, Liu, Yo-Tsen, Wiethoff, Sarah, Bettencourt, Conceição, Lunn, Michael Pt, Manji, Hadi, Hanna, Michael G, Houlden, Henry, Brandner, Sebastian, Züchner, Stephan, Shy, Michael, and Reilly, Mary M

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Cerebellar Ataxia, Genotype, neurofilament light polypeptide, charcot-Marie-Tooth disease, Axons, nervous system diseases, Pedigree, NEFL, Phenotype, stomatognathic system, Sural Nerve, Neurofilament Proteins, Mutation, whole-exome sequencing, Humans
Abstract

To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL).

Published
2017

40. Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

Author

Cottenie, Ellen, Kochanski, Andrzej, Jordanova, Albena, Bansagi, Boglarka, Zimon, Magdalena, Horga, Alejandro, Jaunmuktane, Zane, Saveri, Paola, Rasic, Vedrana Milic, Baets, Jonathan, Bartsakoulia, Marina, Ploski, Rafal, Teterycz, Pawel, Nikolic, Milos, Quinlivan, Ros, Laura, Matilde, Sweeney, Mary G., Taroni, Franco, Lunn, Michael P., Moroni, Isabella, Gonzalez, Michael, Hanna, Michael G., Bettencourt, Conceicao, Chabrol, Elodie, Franke, Andre, von Au, Katja, Schilhabel, Markus, Kabzińska, Dagmara, Hausmanowa-Petrusewicz, Irena, Brandner, Sebastian, Lim, Siew Choo, Song, Haiwei, Choi, Byung-Ok, Horvath, Rita, Chung, Ki-Wha, Zuchner, Stephan, Pareyson, Davide, Harms, Matthew, Reilly, Mary M., and Houlden, Henry

Subjects
Genetics, Genetics(clinical)
Abstract

Using a combination of exome sequencing and linkage analysis, we investigated an English family with two affected siblings in their 40s with recessive Charcot-Marie Tooth disease type 2 (CMT2). Compound heterozygous mutations in the immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) gene were identified. Further sequencing revealed a total of 11 CMT2 families with recessively inherited IGHMBP2 gene mutations. IGHMBP2 mutations usually lead to spinal muscular atrophy with respiratory distress type 1 (SMARD1), where most infants die before 1 year of age. The individuals with CMT2 described here, have slowly progressive weakness, wasting and sensory loss, with an axonal neuropathy typical of CMT2, but no significant respiratory compromise. Segregating IGHMBP2 mutations in CMT2 were mainly loss-of-function nonsense in the 5′ region of the gene in combination with a truncating frameshift, missense, or homozygous frameshift mutations in the last exon. Mutations in CMT2 were predicted to be less aggressive as compared to those in SMARD1, and fibroblast and lymphoblast studies indicate that the IGHMBP2 protein levels are significantly higher in CMT2 than SMARD1, but lower than controls, suggesting that the clinical phenotype differences are related to the IGHMBP2 protein levels.

Published
2014
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41. Genetic and clinical characteristics ofNEFL-related Charcot-Marie-Tooth disease

Author

Horga, Alejandro, primary, Laurà, Matilde, additional, Jaunmuktane, Zane, additional, Jerath, Nivedita U, additional, Gonzalez, Michael A, additional, Polke, James M, additional, Poh, Roy, additional, Blake, Julian C, additional, Liu, Yo-Tsen, additional, Wiethoff, Sarah, additional, Bettencourt, Conceição, additional, Lunn, Michael PT, additional, Manji, Hadi, additional, Hanna, Michael G, additional, Houlden, Henry, additional, Brandner, Sebastian, additional, Züchner, Stephan, additional, Shy, Michael, additional, and Reilly, Mary M, additional

Published
2017
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42. Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

Author

Bugiardini, Enrico, primary, Poole, Olivia V., additional, Manole, Andreea, additional, Pittman, Alan M., additional, Horga, Alejandro, additional, Hargreaves, Iain, additional, Woodward, Cathy E., additional, Sweeney, Mary G., additional, Holton, Janice L., additional, Taanman, Jan-Willem, additional, Plant, Gordon T., additional, Poulton, Joanna, additional, Zeviani, Massimo, additional, Ghezzi, Daniele, additional, Taylor, John, additional, Smith, Conrad, additional, Fratter, Carl, additional, Kanikannan, Meena A., additional, Paramasivam, Arumugam, additional, Thangaraj, Kumarasamy, additional, Spinazzola, Antonella, additional, Holt, Ian J., additional, Houlden, Henry, additional, Hanna, Michael G., additional, and Pitceathly, Robert D.S., additional

Published
2017
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43. Mutations in noncoding regions ofGJB1are a major cause of X-linked CMT

Author

Tomaselli, Pedro J., primary, Rossor, Alexander M., additional, Horga, Alejandro, additional, Jaunmuktane, Zane, additional, Carr, Aisling, additional, Saveri, Paola, additional, Piscosquito, Giuseppe, additional, Pareyson, Davide, additional, Laura, Matilde, additional, Blake, Julian C., additional, Poh, Roy, additional, Polke, James, additional, Houlden, Henry, additional, and Reilly, Mary M., additional

Published
2017
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44. Mitochondrial impairment and rescue in riboflavin responsive neuropathy

Author

Manole, Andreea, primary, Jaunmuktane, Zane, additional, Hargreaves, Iain, additional, Pandraud, Amelie, additional, Salpietro, Vincenzo, additional, Pope, Simon, additional, Ludtmann, Marthe H. R., additional, Horga, Alejandro, additional, Scalco, Renata S., additional, Li, Abi, additional, Ashokkumar, Balasubramaniem, additional, Lourenço, Charles M., additional, Heales, Simon, additional, Horvath, Rita, additional, Chinnery, Patrick F., additional, Toro, Camilo, additional, Singleton, Andrew B., additional, Jacques, Thomas S., additional, Abramov, Andrey Y., additional, Muntoni, Francesco, additional, Hanna, Michael G., additional, Reilly, Mary M., additional, Revesz, Tamas, additional, Kullmann, Dimitri M., additional, Jepson, James E.C., additional, and Houlden, Henry, additional

Published
2017
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46. SIGMAR1mutation associated with autosomal recessive Silver-like syndrome

Author

Horga, Alejandro, primary, Tomaselli, Pedro J., additional, Gonzalez, Michael A., additional, Laurà, Matilde, additional, Muntoni, Francesco, additional, Manzur, Adnan Y., additional, Hanna, Michael G., additional, Blake, Julian C., additional, Houlden, Henry, additional, Züchner, Stephan, additional, and Reilly, Mary M., additional

Published
2016
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47. Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

Author

Rebelo, Adriana P., primary, Abrams, Alexander J., additional, Cottenie, Ellen, additional, Horga, Alejandro, additional, Gonzalez, Michael, additional, Bis, Dana M., additional, Sanchez-Mejias, Avencia, additional, Pinto, Milena, additional, Buglo, Elena, additional, Markel, Kasey, additional, Prince, Jeffrey, additional, Laura, Matilde, additional, Houlden, Henry, additional, Blake, Julian, additional, Woodward, Cathy, additional, Sweeney, Mary G., additional, Holton, Janice L., additional, Hanna, Michael, additional, Dallman, Julia E., additional, Auer-Grumbach, Michaela, additional, Reilly, Mary M., additional, and Zuchner, Stephan, additional

Published
2016
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50. Natalizumab-related anaphylactoid reactions in MS patients are associated with HLA class II alleles

Author

Hera, Belén de la, primary, Urcelay, Elena, additional, Brassat, David, additional, Chan, Andrew, additional, Vidal-Jordana, Angela, additional, Salmen, Anke, additional, Villar, Luisa Maria, additional, Álvarez-Cermeño, José Carlos, additional, Izquierdo, Guillermo, additional, Fernández, Oscar, additional, Oliver, Begoña, additional, Saiz, Albert, additional, Ara, Jose Ramón, additional, Vigo, Ana G., additional, Arroyo, Rafael, additional, Meca, Virginia, additional, Malhotra, Sunny, additional, Fissolo, Nicolás, additional, Horga, Alejandro, additional, Montalban, Xavier, additional, and Comabella, Manuel, additional

Published
2014
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