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2. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

Author

Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia, Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte, Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj, Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Koichihara, Reiko, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper, van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian, Guerrini, Renzo, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, and Argilli, Emanuela

Subjects
abnormal myelination, epilepsy, epileptic encephalopathy, hemolytic anemia, infantile spasms, ion channels, leak cation currents, osmotic stress, white matter abnormality, Humans, Brain Diseases, Ion Channels, Brain, Intellectual Disability, Phenotype
Abstract

By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels allow the cell to respond to osmotic and mechanical stress. Knowledge of the pathophysiological mechanisms underlying associations of stretch-activated ion channels with human disease is limited. Here, we describe 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment associated with progressive neurodegenerative brain changes carrying ten distinct heterozygous variants of TMEM63B, encoding for a highly conserved stretch-activated ion channel. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense, including the recurrent p.Val44Met in 7/17 individuals, or in-frame, all affecting conserved residues located in transmembrane regions of the protein. In 12 individuals, hematological abnormalities co-occurred, such as macrocytosis and hemolysis, requiring blood transfusions in some. We modeled six variants (p.Val44Met, p.Arg433His, p.Thr481Asn, p.Gly580Ser, p.Arg660Thr, and p.Phe697Leu), each affecting a distinct transmembrane domain of the channel, in transfected Neuro2a cells and demonstrated inward leak cation currents across the mutated channel even in isotonic conditions, while the response to hypo-osmotic challenge was impaired, as were the Ca2+ transients generated under hypo-osmotic stimulation. Ectopic expression of the p.Val44Met and p.Gly580Cys variants in Drosophila resulted in early death. TMEM63B-associated DEE represents a recognizable clinicopathological entity in which altered cation conductivity results in a severe neurological phenotype with progressive brain damage and early-onset epilepsy associated with hematological abnormalities in most individuals.

Published
2023

3. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Author

Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C., Matos Ruiz, Paola M., Pratt, Brandon M., England, Eleina M., Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A., Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S., Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M., Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R., Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Weisburd, Ben, Lek, Monkol, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., O’Donnell-Luria, Anne, Robson, Caroline D., Hunter, David G., and Engle, Elizabeth C.

Published
2024
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4. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Author

Pochiero, Francesca, Mari, Francesco, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Brugger, Melanie, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pereira, Marina B., Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte J.V., Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian Michele, and Guerrini, Renzo

Published
2023
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5. CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation

Author

Yan, Jingya, Kothur, Kavitha, Mohammad, Shekeeb, Chung, Jason, Patel, Shrujna, Jones, Hannah F., Keating, Brooke A., Han, Velda X., Webster, Richard, Ardern-Holmes, Simone, Antony, Jayne, Menezes, Manoj P., Tantsis, Esther, Gill, Deepak, Gupta, Sachin, Kandula, Tejaswi, Sampaio, Hugo, Farrar, Michelle A., Troedson, Christopher, Andrews, P Ian, Pillai, Sekhar C., Heng, Benjamin, Guillemin, Gilles J., Guller, Anna, Bandodkar, Sushil, and Dale, Russell C.

Published
2023
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10. Exploring caregivers' attitudes and beliefs about nutrition and weight management for young people with Duchenne muscular dystrophy

Author

Billich, Natassja, primary, Bray, Paula, additional, Truby, Helen, additional, Evans, Maureen, additional, Ryan, Monique M., additional, Carroll, Kate, additional, de Valle, Katy, additional, Villano, Daniella, additional, Kornberg, Andrew, additional, Sowerby, Bianca, additional, Farrar, Michelle A., additional, Menezes, Manoj P., additional, Holland, Sandra, additional, Lindeback, Rachel, additional, Cairns, Anita, additional, and Davidson, Zoe E., additional

Published
2024
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13. Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease

Author

Donlevy, Gabrielle A., primary, Cornett, Kayla M.D., additional, Garnett, Sarah P., additional, Shy, Rosemary, additional, Estilow, Timothy, additional, Yum, Sabrina W., additional, Anderson, Kimberly, additional, Pareyson, Davide, additional, Moroni, Isabella, additional, Muntoni, Francesco, additional, Reilly, Mary M., additional, Finkel, Richard S., additional, Herrmann, David N., additional, Eichinger, Katy J., additional, Shy, Michael E., additional, Burns, Joshua, additional, and Menezes, Manoj P., additional

Published
2023
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14. 2646 Neurofibromatosis model of care project – development of a state-wide integrated value-based model of care for the neurofibromatoses

Author

Siow, Sue-Faye, primary, Fleming, Jane, additional, Gul, Hossai, additional, Menezes, Manoj P, additional, Good, Martin, additional, Milosavljevic, Suzana, additional, Maspero, Sally, additional, Gonzalez, Tina, additional, Wong, Claire, additional, Jones, Kristi, additional, and Berman, Yemima, additional

Published
2023
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16. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Author

Vetro, Annalisa, primary, Pelorosso, Cristiana, additional, Balestrini, Simona, additional, Masi, Alessio, additional, Hambleton, Sophie, additional, Argilli, Emanuela, additional, Conti, Valerio, additional, Giubbolini, Simone, additional, Barrick, Rebekah, additional, Bergant, Gaber, additional, Writzl, Karin, additional, Bijlsma, Emilia K., additional, Brunet, Theresa, additional, Cacheiro, Pilar, additional, Mei, Davide, additional, Devlin, Anita, additional, Hoffer, Mariëtte J.V., additional, Machol, Keren, additional, Mannaioni, Guido, additional, Sakamoto, Masamune, additional, Menezes, Manoj P., additional, Courtin, Thomas, additional, Sherr, Elliott, additional, Parra, Riccardo, additional, Richardson, Ruth, additional, Roscioli, Tony, additional, Scala, Marcello, additional, von Stülpnagel, Celina, additional, Smedley, Damian, additional, Torella, Annalaura, additional, Tohyama, Jun, additional, Koichihara, Reiko, additional, Hamada, Keisuke, additional, Ogata, Kazuhiro, additional, Suzuki, Takashi, additional, Sugie, Atsushi, additional, van der Smagt, Jasper J., additional, van Gassen, Koen, additional, Valence, Stephanie, additional, Vittery, Emma, additional, Malone, Stephen, additional, Kato, Mitsuhiro, additional, Matsumoto, Naomichi, additional, Ratto, Gian Michele, additional, Guerrini, Renzo, additional, Pochiero, Francesca, additional, Mari, Francesco, additional, Ramesh, Venkateswaran, additional, Capra, Valeria, additional, Mancardi, Margherita, additional, Keren, Boris, additional, Mignot, Cyiril, additional, Lulli, Matteo, additional, Parks, Kendall, additional, Griffin, Helen, additional, Brugger, Melanie, additional, Nigro, Vincenzo, additional, Hirata, Yuko, additional, Peterlin, Borut, additional, Maki, Ryuto, additional, Nitta, Yohei, additional, Ambrose, John C., additional, Arumugam, Prabhu, additional, Bevers, Roel, additional, Bleda, Marta, additional, Boardman-Pretty, Freya, additional, Boustred, Christopher R., additional, Brittain, Helen, additional, Brown, Matthew A., additional, Caulfield, Mark J., additional, Chan, Georgia C., additional, Giess, Adam, additional, Griffin, John N., additional, Hamblin, Angela, additional, Henderson, Shirley, additional, Hubbard, Tim J.P., additional, Jackson, Rob, additional, Jones, Louise J., additional, Kasperaviciute, Dalia, additional, Kayikci, Melis, additional, Kousathanas, Athanasios, additional, Lahnstein, Lea, additional, Lakey, Anna, additional, Leigh, Sarah E.A., additional, Leong, Ivonne U.S., additional, Lopez, Javier F., additional, Maleady-Crowe, Fiona, additional, McEntagart, Meriel, additional, Minneci, Federico, additional, Mitchell, Jonathan, additional, Moutsianas, Loukas, additional, Mueller, Michael, additional, Murugaesu, Nirupa, additional, Need, Anna C., additional, O’Donovan, Peter, additional, Odhams, Chris A., additional, Patch, Christine, additional, Perez-Gil, Daniel, additional, Pereira, Marina B., additional, Pullinger, John, additional, Rahim, Tahrima, additional, Rendon, Augusto, additional, Rogers, Tim, additional, Savage, Kevin, additional, Sawant, Kushmita, additional, Scott, Richard H., additional, Siddiq, Afshan, additional, Sieghart, Alexander, additional, Smith, Samuel C., additional, Sosinsky, Alona, additional, Stuckey, Alexander, additional, Tanguy, Mélanie, additional, Taylor Tavares, Ana Lisa, additional, Thomas, Ellen R.A., additional, Thompson, Simon R., additional, Tucci, Arianna, additional, Welland, Matthew J., additional, Williams, Eleanor, additional, Witkowska, Katarzyna, additional, Wood, Suzanne M., additional, and Zarowiecki, Magdalena, additional

Published
2023
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17. Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders

Author

Evesson, Frances J, primary, Dziaduch, Gregory, additional, Bryen, Samantha J, additional, Moore, Francesca, additional, Pittman, Sara, additional, Devanapalli, Beena, additional, Waddell, Leigh B, additional, Ryan, Monique M, additional, Menezes, Manoj P, additional, Weihl, Conrad C, additional, Tolun, Adviye Ayper, additional, Zaidman, Craig, additional, Young, Helen, additional, Adès, Lesley C, additional, and Cooper, Sandra T, additional

Published
2023
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18. Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroids

Author

Yan, Jingya, primary, Kothur, Kavitha, additional, Innes, Emily A., additional, Han, Velda X., additional, Jones, Hannah F., additional, Patel, Shrujna, additional, Tsang, Erica, additional, Webster, Richard, additional, Gupta, Sachin, additional, Troedson, Christopher, additional, Menezes, Manoj P., additional, Antony, Jayne, additional, Ardern-Holmes, Simone, additional, Tantsis, Esther, additional, Mohammad, Shekeeb, additional, Wienholt, Louise, additional, Pires, Ananda S., additional, Heng, Benjamin, additional, Guillemin, Gilles J., additional, Guller, Anna, additional, Gill, Deepak, additional, Bandodkar, Sushil, additional, and Dale, Russell C., additional

Published
2022
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19. CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection‐triggered encephalopathy syndromes.

Author

Dale, Russell C., Thomas, Terrence, Patel, Shrujna, Han, Velda X., Kothur, Kavitha, Troedson, Christopher, Gupta, Sachin, Gill, Deepak, Malone, Stephen, Waak, Michaela, Calvert, Sophie, Subramanian, Gopinath, Andrews, P. Ian, Kandula, Tejaswi, Menezes, Manoj P., Ardern‐Holmes, Simone, Mohammad, Shekeeb, Bandodkar, Sushil, and Yan, Jingya

Subjects
EPILEPSY, QUINOLINIC acid, LIQUID chromatography-mass spectrometry, NEOPTERIN, STATUS epilepticus, BRAIN diseases
Abstract

Objective: Infection‐triggered encephalopathy syndromes (ITES) are potentially devastating neuroinflammatory conditions. Although some ITES syndromes have recognisable MRI neuroimaging phenotypes, there are otherwise few biomarkers of disease. Early detection to enable immune modulatory treatments could improve outcomes. Methods: We measured CSF neopterin, quinolinic acid, kynurenine and kynurenine/tryptophan ratio using a liquid chromatography coupled to tandem mass spectrometry (LC–MS/MS) system. The CSF of 18 children with ITES were compared with acute encephalitis (n = 20), and three control groups, namely epilepsy (n = 20), status epilepticus (n = 18) and neurogenetic controls (n = 20). Results: The main ITES phenotypes in 18 patients were acute encephalopathy with biphasic seizures and late restricted diffusion (AESD, n = 4), febrile infection‐related epilepsy syndrome (FIRES n = 4) and other ITES phenotypes. Influenza A was the most common infectious trigger (n = 5), and 50% of patients had a preceding notable neurodevelopmental or family history. CSF neopterin, quinolinic acid and kynurenine were elevated in ITES group compared to the three control groups (all p < 0.0002). The ROC (area under curve) for CSF neopterin (99.3%, CI 98.1–100) was significantly better than CSF pleocytosis (87.3% CI 76.4–98.2) (p = 0.028). Elevated CSF neopterin could discriminate ITES from other causes of seizures, status epilepticus and febrile status epilepticus (all p < 0.0002). The elevated CSF metabolites normalised during longitudinal testing in two patients with FIRES. Interpretation: CSF neopterin and quinolinic acid are neuroinflammatory and excitotoxic metabolites. This CSF metabolomic inflammatory panel can discriminate ITES from other causes of new onset seizures or status epilepticus, and rapid results (4 h) may facilitate early immune modulatory therapy. [ABSTRACT FROM AUTHOR]

Published
2023
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22. Reliability and sensitivity of radiographic measures of hip dysplasia in childhood Charcot-Marie-Tooth disease.

Author

Dwan, Leanne N, Gibbons, Paul, Jamil, Kamal, Little, David, Birke, Oliver, Menezes, Manoj P, and Burns, Joshua

Subjects
HIP joint radiography, PELVIC radiography, HIP joint dislocation, CHARCOT-Marie-Tooth disease, ACETABULUM (Anatomy), DESCRIPTIVE statistics, RESEARCH funding, DYSPLASIA, SENSITIVITY & specificity (Statistics), CHILDREN
Abstract

Background: Hip dysplasia is a lack of femoral head coverage and disruption of hip and acetabular alignment and congruency, with severity ranging from mild subluxation in nascent at-risk hips to complete dislocation. Presentation of hip dysplasia in neuromuscular conditions can be sub-clinical or associated with a limp with or without hip pain, abductor and flexor weakness and reduced hip range of motion. Untreated hip dysplasia leads to early onset osteoarthritis requiring hip arthroplasty in early adulthood. Hip dysplasia occurs in 6–20% of children with Charcot-Marie-Tooth disease, however little is known about the reliability and sensitivity of detection on plain film pelvic radiographs. Methods: 14 common measures of hip dysplasia on anteroposterior pelvis radiographs were independently assessed by 2 orthopaedic specialists in 30 ambulant children with Charcot-Marie-Tooth disease. Hip health was also categorised based on clinical impression to assess the sensitivity of radiographic measures to identify hip dysplasia status. Results: 8 measures (acetabular index, head width, lateral centre-edge angle, lateral uncoverage, medial joint width, migration percentage, neck shaft angle, triradiate status) exhibited 'excellent' reliability between clinical evaluators. 5 of the 30 patients (17%) were identified as having nascent hip dysplasia. Reliable radiographic measures that significantly distinguished between nascent hip dysplasia and healthy hips were acetabular index, lateral centre edge angle, medial joint width and migration percentage. Conclusions: We have identified a subset of reliable and sensitive radiographic hip measures in children with Charcot-Marie-Tooth disease to prioritise during hip screening to mitigate the deleterious effects of hip dysplasia, pain and disability in adulthood. [ABSTRACT FROM AUTHOR]

Published
2023
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23. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease

Author

Yiu, Eppie M, primary, Bray, Paula, additional, Baets, Jonathan, additional, Baker, Steven K, additional, Barisic, Nina, additional, de Valle, Katy, additional, Estilow, Timothy, additional, Farrar, Michelle A, additional, Finkel, Richard S, additional, Haberlová, Jana, additional, Kennedy, Rachel A, additional, Moroni, Isabella, additional, Nicholson, Garth A, additional, Ramchandren, Sindhu, additional, Reilly, Mary M, additional, Rose, Kristy, additional, Shy, Michael E, additional, Siskind, Carly E, additional, Yum, Sabrina W, additional, Menezes, Manoj P, additional, Ryan, Monique M, additional, and Burns, Joshua, additional

Published
2022
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24. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Author

Bournazos, Adam M., primary, Riley, Lisa G., additional, Bommireddipalli, Shobhana, additional, Ades, Lesley, additional, Akesson, Lauren S., additional, Al-Shinnag, Mohammad, additional, Alexander, Stephen I., additional, Archibald, Alison D., additional, Balasubramaniam, Shanti, additional, Berman, Yemima, additional, Beshay, Victoria, additional, Boggs, Kirsten, additional, Bojadzieva, Jasmina, additional, Brown, Natasha J., additional, Bryen, Samantha J., additional, Buckley, Michael F., additional, Chong, Belinda, additional, Davis, Mark R., additional, Dawes, Ruebena, additional, Delatycki, Martin, additional, Donaldson, Liz, additional, Downie, Lilian, additional, Edwards, Caitlin, additional, Edwards, Matthew, additional, Engel, Amanda, additional, Ewans, Lisa J., additional, Faiz, Fathimath, additional, Fennell, Andrew, additional, Field, Michael, additional, Freckmann, Mary-Louise, additional, Gallacher, Lyndon, additional, Gear, Russell, additional, Goel, Himanshu, additional, Goh, Shuxiang, additional, Goodwin, Linda, additional, Hanna, Bernadette, additional, Harraway, James, additional, Higgins, Megan, additional, Ho, Gladys, additional, Hopper, Bruce K., additional, Horton, Ari E., additional, Hunter, Matthew F., additional, Huq, Aamira J., additional, Josephi-Taylor, Sarah, additional, Joshi, Himanshu, additional, Kirk, Edwin, additional, Krzesinski, Emma, additional, Kumar, Kishore R., additional, Lemckert, Frances, additional, Leventer, Richard J., additional, Lindsey-Temple, Suzanna E., additional, Lunke, Sebastian, additional, Ma, Alan, additional, Macaskill, Steven, additional, Mallawaarachchi, Amali, additional, Marty, Melanie, additional, Marum, Justine E., additional, McCarthy, Hugh J., additional, Menezes, Manoj P., additional, McLean, Alison, additional, Milnes, Di, additional, Mohammad, Shekeeb, additional, Mowat, David, additional, Niaz, Aram, additional, Palmer, Elizabeth E., additional, Patel, Chirag, additional, Patel, Shilpan G., additional, Phelan, Dean, additional, Pinner, Jason R., additional, Rajagopalan, Sulekha, additional, Regan, Matthew, additional, Rodgers, Jonathan, additional, Rodrigues, Miriam, additional, Roxburgh, Richard H., additional, Sachdev, Rani, additional, Roscioli, Tony, additional, Samarasekera, Ruvishani, additional, Sandaradura, Sarah A., additional, Savva, Elena, additional, Schindler, Tim, additional, Shah, Margit, additional, Sinnerbrink, Ingrid B., additional, Smith, Janine M., additional, Smith, Richard J., additional, Springer, Amanda, additional, Stark, Zornitza, additional, Strom, Samuel P., additional, Sue, Carolyn M., additional, Tan, Kenneth, additional, Tan, Tiong Y., additional, Tantsis, Esther, additional, Tchan, Michel C., additional, Thompson, Bryony A., additional, Trainer, Alison H., additional, van Spaendonck-Zwarts, Karin, additional, Walsh, Rebecca, additional, Warwick, Linda, additional, White, Stephanie, additional, White, Susan M., additional, Williams, Mark G., additional, Wilson, Meredith J., additional, Wong, Wui Kwan, additional, Wright, Dale C., additional, Yap, Patrick, additional, Yeung, Alison, additional, Young, Helen, additional, Jones, Kristi J., additional, Bennetts, Bruce, additional, Cooper, Sandra T., additional, Abdulrasool, Ghusoon, additional, Al Eryani, Ghamdan, additional, Arts, Peer, additional, Bagnall, Richard, additional, Baker, Naomi L., additional, Barnett, Christopher, additional, Beecroft, Sarah, additional, Berbic, Marina, additional, Black, Michael, additional, Blackburn, Jim, additional, Blombery, Piers, additional, Bournazos, Adam M., additional, Branford, Susan, additional, Breen, Jimmy, additional, Burnett, Leslie, additional, Canson, Daffodil, additional, Cheong, Pak, additional, Chew, Edward, additional, Christodoulou, John, additional, Chung, Seo-Kyung, additional, Clark, Mike, additional, Cliffe, Corrina, additional, Cole, Melissa, additional, Collins, Felicity, additional, Compton, Alison, additional, Cooper, Antony, additional, Corbett, Mark, additional, Cowley, Mark, additional, Dudding, Tracy, additional, Eggers, Stefanie, additional, Eyras, Eduardo, additional, Fernandez, Miriam Fanjul, additional, Fellowes, Andrew, additional, Fleischer, Ron, additional, Folland, Chiara, additional, Fox, Lucy, additional, Gaff, Clara, additional, Galea, Melanie, additional, Ghaoui, Roula, additional, Gornanitis, Ilias, additional, Ha, Thuong, additional, Hayashi, Rippei, additional, Hayes, Ian, additional, Henderson, Alex, additional, Hesson, Luke, additional, Heyer, Erin, additional, Hildebrand, Michael, additional, Hipwell, Michael, additional, Hoskins, Cass, additional, Jackson, Matilda, additional, James, Paul, additional, Wong, Justin Jong-Leong, additional, Kassahn, Karin, additional, Kaub, Peter, additional, Kevin, Lucy, additional, Kumble, Smitha, additional, Kummerfeld, Sarah, additional, Laing, Nigel, additional, Lau, Chiyan, additional, Lee, Eric, additional, Leighton, Sarah, additional, Lundie, Ben, additional, Mayoh, Chelsea, additional, McGaughran, Julie, additional, McPhillips, Mary, additional, Meldrum, Cliff, additional, Middleton, Edwina, additional, Mina, Kym, additional, Nisselle, Amy, additional, Oates, Emily, additional, Oshlack, Alicia, additional, Parasivam, Gayathri, additional, Parsons, Michael, additional, Quinn, Michael, additional, Rasko, John, additional, Ravenscroft, Gina, additional, Ravine, Anja, additional, Recsei, Krista, additional, Rehn, Jacqueline, additional, Robertson, Stephen, additional, Ronan, Anne, additional, Ryland, Georgina, additional, Sadedin, Simon, additional, Schreiber, Andreas, additional, Scott, Hamish, additional, Scott, Rodney, additional, Semsarian, Christopher, additional, Simons, Cas, additional, Singer, Emma, additional, Smyth, Renee, additional, Spurdle, Amanda, additional, Sullivan, Patricia, additional, Sundercombe, Samantha, additional, Thorburn, David, additional, Toubia, John, additional, Trent, Ronald, additional, Tudini, Emma, additional, Voneague, Irina, additional, Waddell, Leigh, additional, Walker, Logan, additional, Wallis, Mathew, additional, Warnock, Nick, additional, Weatheritt, Robert, additional, White, Deborah, additional, Winship, Ingrid, additional, Worgan, Lisa, additional, Wu, Kathy, additional, and Ziolowski, Andrew, additional

Published
2022
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25. Paediatric neurocysticercosis in high income countries.

Author

Babu, Indhumathi, R Howard-Jones, Annaleise, Goetti, Robert, P Menezes, Manoj, Arbuckle, Susan, and N Britton, Philip

Subjects
HIGH-income countries, NEUROCYSTICERCOSIS, ENDEMIC diseases, CHILDREN'S hospitals, ELECTRONIC health records, COMMUNICABLE diseases
Abstract

Neurocysticercosis (NCC) is an unusual cause of seizures in high income settings. It typically presents as an afebrile seizure in a previously well child and can occur years after migration or travel. Children diagnosed with neurocysticercosis from 01 July 2005 to 30 June 2020 were identified from the electronic medical records of a tertiary children's hospital in Australia. Additionally, a 10-year compilation of case reports of paediatric NCC in high income settings was performed by medline search (publication years 2011–2021). Diagnosis and treatment of neurocysticercosis were reviewed with reference to diagnostic criteria of Del Brutto et al., and the 2017 Infectious Diseases Society of America treatment guidelines. Over a fifteen-year period, eight children were diagnosed with NCC at our hospital in Sydney, Australia. Seizures and history of travel to or migration from South Asia were the two most frequently occurring findings. Children diagnosed after 2016 all received antiparasitic therapy. Outcomes were generally favorable, though long-term epilepsy resulted in some cases. Compiled case reports from high income settings revealed migration and travel exposures commensurate with local demographic patterns, and treatment approaches conforming with 2017 Infectious Diseases Society of America guidelines. Clinicians should be aware of NCC as a differential diagnosis in children from endemic areas presenting with unprovoked seizures as misdiagnosis can occur. Expert review of neuroimaging facilitates diagnosis and can avert unnecessary neurosurgery. In Australia, India was a key exposure country for NCC, reflecting its endemic burden of disease and local travel and migration patterns. • Neurocysticercosis (NCC) is infrequent in high income countries. • NCC should be considered as a differential diagnosis in children with first-episode seizure who have migrated or travelled from endemic areas. • Epidemiological risk factors for NCC in non-endemic, high income settings reflect local migration and travel patterns from endemic countries. • In Australia, having lived in or travelled to India is a key risk factor for NCC. [ABSTRACT FROM AUTHOR]

Published
2022
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26. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Author

Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C., Matos Ruiz, Paola M., Pratt, Brandon M., England, Eleina M., Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A., Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S., Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M., Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R., Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Weisburd, Ben, Lek, Monkol, Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., O’Donnell-Luria, Anne, Robson, Caroline D., Hunter, David G., and Engle, Elizabeth C.

Abstract

To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).

Published
2024
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27. Long‐term outcomes in children with riboflavin transporter deficiency and surveillance recommendations.

Author

Fennessy, Jack R., Cornett, Kayla M. D., Donlevy, Gabrielle A., Mckay, Marnee J., Burns, Joshua, and Menezes, Manoj P.

Subjects
*DELAYED diagnosis, *GRIP strength, *VITAMIN B2, *GENETIC disorder diagnosis, *DISEASE progression
Abstract

The aim of this longitudinal case series was to describe long‐term functional outcome in a group of individuals with riboflavin transporter deficiency (RTD) treated with high‐dose oral riboflavin. Data were collected between 2012 to 2022. Eleven individuals with RTD were assessed at 12‐month intervals for monitoring of disease progression. Patients had commenced high‐dose oral riboflavin from the time of genetic diagnosis. Individuals for whom riboflavin supplementation was initiated early after disease onset had better outcomes compared to those in whom diagnosis was delayed. Despite ongoing riboflavin supplementation, the Charcot–Marie–Tooth disease Pediatric Scale (CMTPedS) total score and the subitems of balance and the 6‐Minute Walk Test distance as well as respiratory function worsened, while grip strength improved. There was evidence of improvement in hearing loss and optic atrophy limited to the first 12 months of treatment. While treatment with riboflavin slowed disease progression, patients were left with residual disability. To track disease progression and response to riboflavin supplementation over time, we recommend using the RTD Pediatric Scale and provide a list of clinical measures for regular surveillance of children with RTD. [ABSTRACT FROM AUTHOR]

Published
2024
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