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2. Early mortality in STXBP1-related disorders

Author

Furia, Francesca, Rigby, Charlene Son, Scheffer, Ingrid E., Allen, Nicholas, Baker, Kate, Hengsbach, Christian, Kegele, Josua, Goss, James, Gorman, Kathleen, Mala, Misra-Isrie, Nicita, Francesco, Allan, Talia, Spalice, Alberto, Weber, Yvonne, Rubboli, Guido, Møller, Rikke S., and Gardella, Elena

Published
2024
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3. The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

Author

Gavazzi, Francesco, Charsar, Brittany, Hamilton, Eline, Erler, Jacqueline A., Patel, Virali, Woidill, Sarah, Sevagamoorthy, Anjana, Helman, Guy, Schmidt, Johanna, Pizzino, Amy, Muirhead, Kayla, Takanohashi, Asako, Bonkowsky, Joshua L., Meyerhoffer, Kelsee, Simons, Cas, Doi, Hiroshi, Satoko, Miyatake, Matsumoto, Naomichi, Delgado, Mauricio R., Sanchez-Castillo, Meredith, Wang, Jingming, de Carvalho, Daniel Rocha, Tournev, Ivailo, Chamova, Teodora, Jordanova, Albena, Clegg, Nancy J., Nicita, Francesco, Bertini, Enrico, Teng, Michelle, Williams, Dan, Tonduti, Davide, Houlden, Henry, Stellingwerff, Menno, Wassmer, Evangeline, Garcia-Cazorla, Angeles, Bernard, Geneviève, Mirchi, Amytice, Toutounchi, Helia, Wolf, Nicole I., van der Knaap, Marjo S., Shults, Justine, Adang, Laura A., and Vanderver, Adeline L.

Published
2025
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5. White matter abnormalities in 15 subjects with SPG76

Author

Alkhalifa, Abdulrahman, Chen, Shihan, Hasiloglu, Zehra Isik, Filosto, Massimiliano, Cali, Elisa, Houlden, Henry, Sgobbi de Souza, Paulo, Alavi, Afagh, Goizet, Cyril, Stevanin, Giovanni, Taithe, Frederic, Nicita, Francesco, Vasco, Gessica, Tozza, Stefano, Cocozza, Sirio, Carboni, Nicola, Figus, Andrea, Wu, Jianjun, Basak, A. Nazli, Brais, Bernard, Rouleau, Guy, and La Piana, Roberta

Published
2023
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9. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

Author

Cunha, Paulina, Petit, Emilien, Coutelier, Marie, Coarelli, Giulia, Mariotti, Caterina, Faber, Jennifer, Van Gaalen, Judith, Damasio, Joana, Fleszar, Zofia, Tosi, Michele, Rocca, Clarissa, De Michele, Giovanna, Minnerop, Martina, Ewenczyk, Claire, Santorelli, Filippo M., Heinzmann, Anna, Bird, Thomas, Amprosi, Matthias, Indelicato, Elisabetta, Benussi, Alberto, Charles, Perrine, Stendel, Claudia, Romano, Silvia, Scarlato, Marina, Le Ber, Isabelle, Bassi, Maria Teresa, Serrano, Mercedes, Schmitz-Hübsch, Tanja, Doss, Sarah, Van Velzen, Gijs A.J., Thomas, Quentin, Trabacca, Antonio, Ortigoza-Escobar, Juan Dario, D'Arrigo, Stefano, Timmann, Dagmar, Pantaleoni, Chiara, Martinuzzi, Andrea, Besse-Pinot, Elsa, Marsili, Luca, Cioffi, Ettore, Nicita, Francesco, Giorgetti, Alejandro, Moroni, Isabella, Romaniello, Romina, Casali, Carlo, Ponger, Penina, Casari, Giorgio, De Bot, Susanne T., Ristori, Giovanni, Blumkin, Lubov, Borroni, Barbara, Goizet, Cyril, Marelli, Cecilia, Boesch, Sylvia, Anheim, Mathieu, Filla, Alessandro, Houlden, Henry, Bertini, Enrico, Klopstock, Thomas, Synofzik, Matthis, Riant, Florence, Zanni, Ginevra, Magri, Stefania, Di Bella, Daniela, Nanetti, Lorenzo, Sequeiros, Jorge, Oliveira, Jorge, Van de Warrenburg, Bart, Schöls, Ludger, Taroni, Franco, Brice, Alexis, and Durr, Alexandra

Published
2023
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12. Early mortality in STXBP1-related disorders.

Author

Furia, Francesca, Rigby, Charlene Son, Scheffer, Ingrid E., Allen, Nicholas, Baker, Kate, Hengsbach, Christian, Kegele, Josua, Goss, James, Gorman, Kathleen, Mala, Misra-Isrie, Nicita, Francesco, Allan, Talia, Spalice, Alberto, Weber, Yvonne, Balagura, Ganna, Benzeev, Bruria, Bruining, Hilgo, Darling, Alejandra, Cazorla, Ángeles García, and Milh, Mathieu

Subjects
SUDDEN death, MEDICAL sciences, LUNG infections, EARLY death, GENETIC counseling, CAUSE of death statistics
Abstract

Introduction: Pathogenic variants in STXBP1 cause a spectrum of disorders mainly consisting of developmental and epileptic encephalopathy (DEE), often featuring drug-resistant epilepsy. An increased mortality risk occurs in individuals with drug-resistant epilepsy and DEE, with sudden unexpected death in epilepsy (SUDEP) often the major cause of death. This study aimed to identify the rate and causes of mortality in STXBP1-related disorders. Methods: Through an international call, we analyzed data on individuals with STXBP1 pathogenic variants, who passed away from causes related to their disease. Results: We estimated a mortality rate of 3.2% (31/966), based on the STXBP1 Foundation and the STXBP1 Global Connect registry. In total, we analyzed data on 40 individuals (23 males) harboring pathogenic STXBP1 variants, collected from different centers worldwide. They died at a median age of 13 years (range: 11 months—46 years). The most common cause of death was SUDEP (36%), followed by pulmonary infections and respiratory complications (33%). The incidence of SUDEP peaked in mid-childhood, while non-SUDEP causes were more frequent in early childhood or adulthood (p = 0.006). In the most severe phenotypes, death was related to non-SUDEP causes (p = 0.018). Conclusion: We found a mortality rate in STXBP1-related disorders similar to other DEEs, with an early age at death and SUDEP as well as pulmonary infections as the main cause of death. These findings assist in prognostic evaluation and genetic counseling for the families. They help to define the mortality risk of STXBP1-related disorders and implement preventative strategies. [ABSTRACT FROM AUTHOR]

Published
2025
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13. Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia.

Author

Sartorelli, Jacopo, Pomponi, Maria Grazia, Garone, Giacomo, Vasco, Gessica, Cumbo, Francesca, Colona, Vito Luigi, D'Amico, Adele, Bertini, Enrico, and Nicita, Francesco

Subjects
MOVEMENT disorders, TRINUCLEOTIDE repeats, CEREBELLAR ataxia, SPINOCEREBELLAR ataxia, CHILD patients
Abstract

Background: Childhood-onset progressive ataxias are rare neurodegenerative disorders characterized by cerebellar signs, sometimes associated with other neurological or extra-neurological features. The autosomal dominant forms, known as spinocerebellar ataxias (SCAs), linked to trinucleotide (i.e., CAG) repeat disorders, are ultra-rare in children. We describe three patients from two unrelated families affected by spinocerebellar ataxia type 2 (SCA2) and present a literature review of pediatric cases. Methods: The patients' clinical and genetic data were collected retrospectively. Results: The first case was a 9.5-year-old boy, affected by ataxia with oculomotor apraxia and cerebellar atrophy, subcortical myoclonus, and peripheral axonal sensitive polyneuropathy caused by a pathologic expansion in ATXN2, inherited from his asymptomatic father. Two brothers with familial SCA2 presented neurodegeneration leading to early death in one case and progressive ataxia, parkinsonism, and epilepsy with preserved ambulation at age 18 years in the second. To date, 19 pediatric patients affected by SCA2 have been reported, 3 of whom had a phenotype consistent with progressive ataxia with shorter CAG repeats, while 16 had more severe early-onset encephalopathy, with longer alleles. Conclusions: Although they are ultra-rare, trinucleotide repeat disorders must be considered in differential diagnosis of hereditary progressive ataxias in children, especially considering that they require targeted genetic testing and can manifest even before a parental carrier becomes symptomatic. Thus, they must also be taken into account with negative family history and when Next-Generation Sequencing (NGS) results are inconclusive. Notably, the association between cerebellar ataxia and other movement disorders should raise suspicion of SCA2 among differential diagnoses. [ABSTRACT FROM AUTHOR]

Published
2025
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14. Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.

Author

Lentini, Laura, Toutounchi, Helia, Chapleau, Alexandra, Le, Adam, Fournier, Simon, Emari, Fatemeh, Flamini, Robert, Rossi, Andrea, Gentile, Angela, Bertini, Enrico, Nicita, Francesco, Pohl, Daniela, Venkateswaran, Sunita, Keller, Stephanie, Rossignol, Elsa, Renaud, Deborah, Assis Pereira, Danilo De, Chen, Xiaoru, Vanderver, Adeline, and Bernard, Geneviève

Subjects
QUALITY of life, SOCIAL services, RNA polymerases, WELL-being, PARENTS
Abstract

Background: RNA polymerase III (POLR3)-related leukodystrophy is a rare, neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Despite the challenges of caring for a child with POLR3-related leukodystrophy, few studies have examined parents' disease burden. We sought to investigate quality of life and stress levels amongst parents of children with POLR3-related leukodystrophy. Methods: 43 parents of 32 children completed questionnaires on demographics, stress, quality of life, coping mechanisms, and experience of injustice. Detailed clinical data was collected from all patients. Results: Mothers (t [27] = –8.66, P <.001) and fathers (t[16] = –4.47, P <.001) had lower quality of life scores compared to the normative population, yet 80% of parents' stress scores fell within the normal stress range. Parents' experience of injustice scores were high (>60). Correlations were found between and within parents' scores. Years since disease onset and certain life circumstances correlated to mothers' quality of life scores; however, no correlation was found between modifiable factors and fathers' quality of life scores. Helpful coping mechanisms included those that allowed parents to be involved in their child's life. Conclusions: This is the first study to assess stress and quality of life in this population. These results shed light on the importance of implementing services and social support to improve the well-being of parents. [ABSTRACT FROM AUTHOR]

Published
2025
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15. Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome

Author

Masnada, Silvia, Sarret, Catherine, Antonello, Clara Eleonora, Fadilah, Ala, Krude, Heiko, Mura, Eleonora, Mordekar, Santosh, Nicita, Francesco, Olivotto, Sara, Orcesi, Simona, Porta, Francesco, Remerand, Ganaelle, Siri, Barbara, Wilpert, Nina-Maria, Amir-Yazdani, Pouneh, Bertini, Enrico, Schuelke, Markus, Bernard, Geneviève, Boespflug-Tanguy, Odile, and Tonduti, Davide

Published
2022
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16. A nationwide study on Sydenham's chorea: Clinical features, treatment and prognostic factors

Author

Orsini, Alessandro, Foiadelli, Thomas, Magistrali, Mariasole, Carli, Niccolò, Bagnasco, Irene, Dassi, Patrizia, Verrotti, Alberto, Marcotulli, Daniele, Canavese, Carlotta, Nicita, Francesco, Capuano, Alessandro, Marra, Chiara, Fetta, Anna, Nosadini, Margherita, Sartori, Stefano, Papa, Amanda, Viri, Maurizio, Greco, Filippo, Pavone, Piero, Simonini, Gabriele, Matricardi, Sara, Siquilini, Sabrina, Marchese, Francesca, De Grandis, Elisa, Brunenghi, Bernadette Marrè, Malattia, Clara, Bassanese, Francesco, Bergonzini, Patrizia, Bonuccelli, Alice, Consolini, Rita, Marseglia, Gian Luigi, Peroni, Diego, Striano, Pasquale, Cordelli, Duccio, and Savasta, Salvatore

Published
2022
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17. Expanded phenotype of AARS1-related white matter disease

Author

Helman, Guy, Mendes, Marisa I., Nicita, Francesco, Darbelli, Lama, Sherbini, Omar, Moore, Travis, Derksen, Alexa, Amy Pizzino, Carrozzo, Rosalba, Torraco, Alessandra, Catteruccia, Michela, Aiello, Chiara, Goffrini, Paola, Figuccia, Sonia, Smith, Desiree E.C., Hadzsiev, Kinga, Hahn, Andreas, Biskup, Saskia, Brösse, Ines, Kotzaeridou, Urania, Gauck, Darja, Grebe, Theresa A., Elmslie, Frances, Stals, Karen, Gupta, Rajat, Bertini, Enrico, Thiffault, Isabelle, Taft, Ryan J., Schiffmann, Raphael, Brandl, Ulrich, Haack, Tobias B., Salomons, Gajja S., Simons, Cas, Bernard, Geneviève, van der Knaap, Marjo S., Vanderver, Adeline, and Husain, Ralf A.

Published
2021
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19. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Author

Rodan, Lance H., Spillmann, Rebecca C., Kurata, Harley T., Lamothe, Shawn M., Maghera, Jasmine, Jamra, Rami Abou, Alkelai, Anna, Antonarakis, Stylianos E., Atallah, Isis, Bar-Yosef, Omer, Bilan, Frédéric, Bjorgo, Kathrine, Blanc, Xavier, Van Bogaert, Patrick, Bolkier, Yoav, Burrage, Lindsay C., Christ, Björn U., Granadillo, Jorge L., Dickson, Patricia, Donald, Kirsten A., Dubourg, Christèle, Eliyahu, Aviva, Emrick, Lisa, Engleman, Kendra, Gonfiantini, Michaela Veronika, Good, Jean-Marc, Kalser, Judith, Kloeckner, Chiara, Lachmeijer, Guus, Macchiaiolo, Marina, Nicita, Francesco, Odent, Sylvie, O’Heir, Emily, Ortiz-Gonzalez, Xilma, Pacio-Miguez, Marta, Palomares-Bralo, María, Pena, Loren, Platzer, Konrad, Quinodoz, Mathieu, Ranza, Emmanuelle, Rosenfeld, Jill A., Roulet-Perez, Eliane, Santani, Avni, Santos-Simarro, Fernando, Pode-Shakked, Ben, Skraban, Cara, Slaugh, Rachel, Superti-Furga, Andrea, Thiffault, Isabelle, van Jaabrsveld, Richard H., Vincent, Marie, Wang, Hong-Gang, Zacher, Pia, Alejandro, Mercedes E., Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Chao, Hsiao-Tuan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Dhar, Shweta U., Emrick, Lisa T., Goldman, Alica M., Hanchard, Neil A., Jamal, Fariha, Karaviti, Lefkothea, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Moretti, Paolo M., Murdock, David R., Nicholas, Sarah K., Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Deardorff, Matthew, Falk, Marni, Hassey, Kelly, Sullivan, Kathleen, Vanderver, Adeline, Goldstein, David B., Cope, Heidi, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Smith, Edward C., Sullivan, Jennifer A., Tan, Queenie K.-G., Walley, Nicole M., Agrawal, Pankaj B., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Cooper, Cynthia M., Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Walsh, Chris A., Esteves, Cecilia, Kelley, Emily G., Kohane, Isaac S., LeBlanc, Kimberly, McCray, Alexa T., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Carrasquillo, Olveen, Chang, Ta Chen Peter, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Sacco, Ralph, Saporta, Mario, Schaechter, Judy, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Zuchner, Stephan, Colley, Heather A., Dayal, Jyoti G., Eckstein, David J., Findley, Laurie C., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., LaMoure, Grace L., Goldrich, Madison P., Urv, Tiina K., Doss, Argenia L., Acosta, Maria T., Bonnenmann, Carsten, D’Souza, Precilla, Draper, David D., Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Macnamara, Ellen F., Maduro, Valerie V., Markello, Thomas C., Nath, Avi, Novacic, Donna, Pusey, Barbara N., Toro, Camilo, Wahl, Colleen E., Baker, Eva, Burke, Elizabeth A., Adams, David R., Gahl, William A., Malicdan, May Christine V., Tifft, Cynthia J., Wolfe, Lynne A., Yang, John, Power, Bradley, Gochuico, Bernadette, Huryn, Laryssa, Latham, Lea, Davis, Joie, Mosbrook-Davis, Deborah, Rossignol, Francis, Ben Solomon, MacDowall, John, Thurm, Audrey, Zein, Wadih, Yousef, Muhammad, Adam, Margaret, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Berg-Rood, Beverly, Blue, Elizabeth, Boyd, Brenna, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Golden-Grant, Katie, Hahn, Sihoun, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Lam, Christina, Maravilla, Kenneth, Mefford, Heather, Merritt, J. Lawrence, Mirzaa, Ghayda, Nickerson, Deborah, Raskind, Wendy, Rosenwasser, Natalie, Scott, C. Ron, Sun, Angela, Sybert, Virginia, Wallace, Stephanie, Wener, Mark, Wenger, Tara, Ashley, Euan A., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fernandez, Liliana, Fisher, Paul G., Fresard, Laure, Hom, Jason, Huang, Yong, Kohler, Jennefer N., Kravets, Elijah, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, McCormack, Colleen E., Raja, Archana N., Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Tucker, Brianna M., Wheeler, Matthew T., Zastrow, Diane B., Zhao, Chunli, Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Brown, Gabrielle, Butte, Manish J., Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Gutierrez, Irma, Huang, Alden, Krakow, Deborah, Lee, Hane, Loo, Sandra K., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Signer, Rebecca H., Sinsheimer, Janet S., Wan, Jijun, Wang, Lee-kai, Perry, Katherine Wesseling, Woods, Jeremy D., Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Pace, Laura, Longo, Nicola, Marth, Gabor, Moretti, Paolo, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Brokamp, Elly, Duncan, Laura, Hamid, Rizwan, Kennedy, Jennifer, Kozuira, Mary, Newman, John H., PhillipsIII, John A., Rives, Lynette, Robertson, Amy K., Solem, Emily, Cogan, Joy D., Cole, F. Sessions, Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Rush, Eric, Pitt, Geoffrey S., and Au, Ping Yee Billie

Published
2021
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20. Clinical phenotypes of infantile onset CACNA1A-related disorder

Author

Gur-Hartman, Tamar, Berkowitz, Oren, Yosovich, Keren, Roubertie, Agathe, Zanni, Ginevra, Macaya, Alfons, Heimer, Gali, Dueñas, Belén Pérez, Sival, Deborah A., Pode-Shakked, Ben, López-Laso, Eduardo, Humbertclaude, Véronique, Riant, Florence, Bosco, Luca, Cayron, Lital Bachar, Nissenkorn, Andreea, Nicita, Francesco, Bertini, Enrico, Hassin, Sharon, Ben Zeev, Bruria, Zerem, Ayelet, Libzon, Stephanie, Lev, Dorit, Linder, Ilan, Lerman-Sagie, Tally, and Blumkin, Lubov

Published
2021
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21. POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.

Author

De Dominicis, Angela, Stregapede, Fabrizia, Colona, Vito Luigi, Nicita, Francesco, Sartorelli, Jacopo, Sparascio, Francesca Piceci, Terracciano, Alessandra, Novelli, Antonio, Specchio, Nicola, Bertini, Enrico Silvio, and Trivisano, Marina

Abstract

To report on a new phenotype in a patient carrying a novel, undescribed de novo variant in POLR3B , affected by generalized myoclonic epilepsy and neurodevelopmental disorder, without neuropathy. It is known that biallelic pathogenic variants in POLR3B cause hypomyelinating leukodystrophy-8, and heterozygous de novo variants are described in association to a phenotype characterized by predominantly demyelinating sensory-motor peripheral neuropathy, ataxia, spasticity, intellectual disability and epilepsy, in which the peripheral neuropathy is often the main clinical presentation. We collected clinical, electrophysiological and neuroimaging data from the affected subject and performed a Trio-Clinical Exome Sequencing. We detected a de novo novel heterozygous missense variant c.1132A> G in POLR3B (NM_018082.6) that was considered as likely pathogenic following ACMG criteria. We also consulted our custom genomic database of a total of 1485 patients that were genetically analysed from 2018 for epilepsy, and found no other de novo variants in the POLR3B gene. We hypothesize a possible genotype-phenotype correlation, particularly regarding epilepsy. We also provide a review of the literature about the previously described POLR3B heterozygous patients, with particular attention to the epileptic phenotype, underlining the association between POLR3B and early onset myoclonic epilepsy, which can represent the main manifestation of the disease at its onset. [ABSTRACT FROM AUTHOR]

Published
2024
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22. Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A)

Author

Casamassa, Alessia, primary, Rotundo, Giovannina, additional, Ceresoni, Chiara, additional, Turco, Elisa Maria, additional, Torrente, Isabella, additional, Candido, Ornella, additional, Nicita, Francesco, additional, Tonduti, Davide, additional, Bertini, Enrico, additional, Marano, Massimo, additional, Ferrari, Daniela, additional, Cereda, Cristina, additional, Pennuto, Maria, additional, Vescovi, Angelo Luigi, additional, Carelli, Stephana, additional, and Rosati, Jessica, additional

Published
2024
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24. Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A)

Author

Casamassa, A, Rotundo, G, Ceresoni, C, Turco, E, Torrente, I, Candido, O, Nicita, F, Tonduti, D, Bertini, E, Marano, M, Ferrari, D, Cereda, C, Pennuto, M, Vescovi, A, Carelli, S, Rosati, J, Casamassa, Alessia, Rotundo, Giovannina, Ceresoni, Chiara, Turco, Elisa Maria, Torrente, Isabella, Candido, Ornella, Nicita, Francesco, Tonduti, Davide, Bertini, Enrico, Marano, Massimo, Ferrari, Daniela, Cereda, Cristina, Pennuto, Maria, Vescovi, Angelo Luigi, Carelli, Stephana, Rosati, Jessica, Casamassa, A, Rotundo, G, Ceresoni, C, Turco, E, Torrente, I, Candido, O, Nicita, F, Tonduti, D, Bertini, E, Marano, M, Ferrari, D, Cereda, C, Pennuto, M, Vescovi, A, Carelli, S, Rosati, J, Casamassa, Alessia, Rotundo, Giovannina, Ceresoni, Chiara, Turco, Elisa Maria, Torrente, Isabella, Candido, Ornella, Nicita, Francesco, Tonduti, Davide, Bertini, Enrico, Marano, Massimo, Ferrari, Daniela, Cereda, Cristina, Pennuto, Maria, Vescovi, Angelo Luigi, Carelli, Stephana, and Rosati, Jessica

Abstract

Hypomyelinating leukodystrophies (HLD) are a group of heterogeneous genetic disorders characterized by a deficit in myelin deposition during brain development. Specifically, 4H-Leukodystrophy is a recessive disease due to biallelic mutations in the POLR3A gene, which encodes one of the subunits forming the catalytic core of RNA polymerase III (PolIII). The disease also presents non -neurological signs such as hypodontia and hypogonadotropic hypogonadism. Here, we report the generation of a human induced pluripotent stem cell (hiPSC) line from fibroblasts of the first identified carrier of the biallelic POLR3A variants c.1802 T > A and c.4072G > A.

Published
2024

26. Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice.

Author

Amato, María Eugenia, Darling, Alejandra, Stovickova, Lucie, Attard, Stephen, Eggink, Hendriekje, Engelen, Marc, Freilinger, Michael, Grosso, Salvatore, Hadzsiev, Kinga, Moroni, Isabella, Nardocci, Nardo, Neubauer, David, Nicita, Francesco, Pagliano, Emanuela, Siegert, Sandy, Soler, Doriette, van de Pol, Laura A., Vasco, Gessica, Vidailhet, Marie, and Willemsen, Michel AAP.

Subjects
TRANSITIONAL care, MOVEMENT disorders, CHILD patients, NEUROLOGICAL disorders, GENETIC disorder diagnosis
Abstract

This exploratory study evaluates rating scale usage by experts from the European Reference Network for Rare Neurological Diseases (ERN-RND) for paediatric MD, considering factors like diagnosis, intellectual disability, age, and transition to adult care. The aim is to propose a preliminary framework for consistent application. A multicentre survey among 25 ERN-RND experts from 10 European countries examined rating scale usage in paediatric MD, categorizing MD into acute, non-progressive, and neurodegenerative types. Factors influencing scale choice and the transition to adult care practices were analysed. A comprehensive literature search was conducted to identify the earliest age of application of these scales in paediatric patients. The study identifies various rating scales and establishes their usage frequencies for different MDs. Experts highlighted the need for standardized scales and proposed preliminary evaluation strategies based on clinical contexts. Challenges in applying scales to young, non-cooperative patients were acknowledged. The study recommends developing standardized rating scales for paediatric MDs to improve evaluations and data collection. It suggests potential scales for specific clinical scenarios to better evaluate disease progression. Comprehensive, patient-centred care remains crucial during the transition to adult care, despite the identified challenges. This exploratory approach aims to enhance patient outcomes and care. • Application of rating scales for movement disorders should be standardized in children. • Neurodevelopment, quality of life, and cognitive function should also be assessed. • Age, intellectual disability, multiple movement disorders, and genetic diagnoses influence the assessment. • Rating scales are crucial as a quality indicator of the paediatric-adult care transition. [ABSTRACT FROM AUTHOR]

Published
2024
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27. Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Author

Ortigoza‐Escobar, Juan Darío, Zamani, Mina, Dorison, Nathalie, Sadeghian, Saeid, Azizimalamiri, Reza, Alvi, Javeria Raza, Sultan, Tipu, Galehdari, Hamid, Shariati, Gholamreza, Saberi, Alihossein, Leeuwen, Lisette, Zifarelli, Giovanni, Bauer, Peter, d'Hardemare, Vincent, Doummar, Diane, Roze, Emmanuel, Travaglini, Lorena, Nicita, Francesco, Ojea Ponce, Núria, and Zahraei, Seyed Mohammadsaleh

Abstract

Background: Biallelic ZBTB11 variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69). Objective: The aim was to provide insights into the clinical and genetic characteristics of ZBTB11‐related disorders (ZBTB11‐RD), with a particular emphasis on progressive complex movement abnormalities. Methods: Thirteen new and 16 previously reported affected individuals, ranging in age from 2 to 50 years, with biallelic ZBTB11 variants underwent clinical and genetic characterization. Results: All patients exhibited a range of neurodevelopmental phenotypes with varying severity, encompassing ocular and neurological features. Eleven new patients presented with complex abnormal movements, including ataxia, dystonia, myoclonus, stereotypies, and tremor, and 7 new patients exhibited cataracts. Deep brain stimulation was successful in treating 1 patient with generalized progressive dystonia. Our analysis revealed 13 novel variants. Conclusions: This study provides additional insights into the clinical features and spectrum of ZBTB11‐RD, highlighting the progressive nature of movement abnormalities in the background of neurodevelopmental phenotype. [ABSTRACT FROM AUTHOR]

Published
2024
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28. BCL11B‐Related Dystonia: Further Evidence of an Emerging Cause of Childhood‐Onset Generalized Dystonia.

Author

Garone, Giacomo, Capuano, Alessandro, Amodio, Donato, Nicita, Francesco, Travaglini, Lorena, Graziola, Federica, De Benedictis, Alessandro, Frascarelli, Flaminia, Parisi, Pasquale, Pizzi, Simone, Tartaglia, Marco, Marras, Carlo Efisio, and Niceta, Marcello

Subjects
MOVEMENT disorders, DYSTONIA, MEDIUM spiny neurons, CYCLIC adenylic acid, KILLER cells, DEEP brain stimulation
Abstract

This article discusses BCL11B-related dystonia, a genetic disorder that causes childhood-onset generalized dystonia and intellectual disability. The BCL11B gene is involved in the development of various systems in the body. Mutations in this gene have been linked to a syndrome characterized by intellectual disability, facial abnormalities, and T cell abnormalities. Recent case reports suggest that a complex movement disorder, including spasticity and dystonia, can also be part of this syndrome. The article presents a case study of a young girl with BCL11B-related dystonia, providing information about her symptoms, genetic testing, and treatment. The study suggests that BCL11B should be considered in the diagnosis of genetic causes of generalized dystonia with childhood onset and intellectual disability. The research was conducted with the consent of the patient's guardians and was funded by the Italian Ministry of Health. [Extracted from the article]

Published
2024
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30. Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

Author

Nicita, Francesco, Stregapede, Fabrizia, Tessa, Alessandra, Bassi, Maria Teresa, Jezela-Stanek, Aleksandra, Primiano, Guido, Pizzuti, Antonio, Barghigiani, Melissa, Nardella, Marta, Zanni, Ginevra, Servidei, Serenella, Astrea, Guja, Panzeri, Elena, Maghini, Cristina, Losito, Luciana, Ploski, Rafal, Gasperowicz, Piotr, Santorelli, Filippo Maria, Bertini, Enrico, and Travaglini, Lorena

Published
2019
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32. Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms.

Author

Sartorelli, Jacopo, Travaglini, Lorena, Macchiaiolo, Marina, Garone, Giacomo, Gonfiantini, Michaela Veronika, Vecchio, Davide, Sinibaldi, Lorenzo, Frascarelli, Flaminia, Ceccatelli, Viola, Petrillo, Sara, Piemonte, Fiorella, Piccolo, Gabriele, Novelli, Antonio, Longo, Daniela, Pro, Stefano, D'Amico, Adele, Bertini, Enrico Silvio, and Nicita, Francesco

Subjects
REFERENCE values, ATAXIA, SYNDROMES, CYTOPLASMIC filaments, BIOMARKERS, MISSENSE mutation
Abstract

(1) Background: Cockayne syndrome (CS) is an ultra-rare multisystem disorder, classically subdivided into three forms and characterized by a clinical spectrum without a clear genotype-phenotype correlation for both the two causative genes ERCC6 (CS type B) and ERCC8 (CS type A). We assessed this, presenting a series of patients with genetically confirmed CSB. (2) Materials and Methods: We retrospectively collected demographic, clinical, genetic, neuroimaging, and serum neurofilament light-chain (sNFL) data about CSB patients; diagnostic and severity scores were also determined. (3) Results: Data of eight ERCC6/CSB patients are presented. Four patients had CS I, three patients CS II, and one patient CS III. Various degrees of ataxia and spasticity were cardinal neurologic features, with variably combined systemic characteristics. Mean age at diagnosis was lower in the type II form, in which classic CS signs were more evident. Interestingly, sNFL determination appeared to reflect clinical classification. Two novel premature stop codon and one novel missense variants were identified. All CS I subjects harbored the p.Arg735Ter variant; the milder CS III subject carried the p.Leu764Ser missense change. (4) Conclusion: Our work confirms clinical variability also in the ERCC6/CSB type, where manifestations may range from severe involvement with prenatal or neonatal onset to normal psychomotor development followed by progressive ataxia. We propose, for the first time in CS, sNFL as a useful peripheral biomarker, with increased levels compared to currently available reference values and with the potential ability to reflect disease severity. [ABSTRACT FROM AUTHOR]

Published
2024
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35. The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes

Author

Travaglini, Lorena, Aiello, Chiara, Stregapede, Fabrizia, D’Amico, Adele, Alesi, Viola, Ciolfi, Andrea, Bruselles, Alessandro, Catteruccia, Michela, Pizzi, Simone, Zanni, Ginevra, Loddo, Sara, Barresi, Sabina, Vasco, Gessica, Tartaglia, Marco, Bertini, Enrico, and Nicita, Francesco

Published
2018
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36. Acute Ophthalmoplegia with Wernicke‐Like MRI Pattern in a Patient with HPDL‐Related Disorder.

Author

Sartorelli, Jacopo, Longo, Daniela, Travaglini, Lorena, Orlando, Valeria, D'Amico, Adele, Bertini, Enrico, and Nicita, Francesco

Subjects
BLOOD lactate, POSTVACCINAL encephalitis, SYMPTOMS, GENETIC disorders, GRAY matter (Nerve tissue), FAMILIAL spastic paraplegia
Abstract

This article discusses a case study of a 16.5-year-old girl with a progressive disorder caused by biallelic variants in the HPDL gene. The girl initially presented with mild lower limb hypertonia and poor social interaction, but later developed an ataxic-spastic syndrome and regression of developmental milestones. She also experienced an episode of acute ophthalmoplegia with a Wernicke-like MRI pattern. Treatment with oral steroids and antioxidant vitamins resulted in the resolution of her symptoms. The article highlights the need for broad genetic testing, such as exome sequencing, in the diagnosis of HPDL-related disorders. [Extracted from the article]

Published
2024
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39. Refractory absence seizures: An Italian multicenter retrospective study

Author

Franzoni, Emilio, Matricardi, Sara, Di Pisa, Veronica, Capovilla, Giuseppe, Romeo, Antonino, Tozzi, Elisabetta, Pruna, Dario, Salerno, Grazia Gabriella, Zamponi, Nelia, Accorsi, Patrizia, Giordano, Lucio, Coppola, Giangennaro, Cerminara, Caterina, Curatolo, Paolo, Nicita, Francesco, Spalice, Alberto, Grosso, Salvatore, Pavone, Piero, Striano, Pasquale, Parisi, Pasquale, Boni, Antonella, Gobbi, Giuseppe, Carotenuto, Marco, Esposito, Maria, Cottone, Carlo, and Verrotti, Alberto

Published
2015
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40. A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas

Author

Caltabiano, Rosario, Magro, Gaetano, Polizzi, Agata, Praticò, Andrea Domenico, Ortensi, Andrea, D’Orazi, Valerio, Panunzi, Andrea, Milone, Pietro, Maiolino, Luigi, Nicita, Francesco, Capone, Gabriele Lorenzo, Sestini, Roberta, Paganini, Irene, Muglia, Mariella, Cavallaro, Sebastiano, Lanzafame, Salvatore, Papi, Laura, and Ruggieri, Martino

Published
2017
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47. Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort

Author

Po', Chiara, Nosadini, Margherita, Zedde, Marialuisa, Pascarella, Rosario, Mirone, Giuseppe, Cicala, Domenico, Rosati, Anna, Cosi, Alessandra, Toldo, Irene, Colombatti, Raffaella, Martelli, Paola, Iodice, Alessandro, Accorsi, Patrizia, Giordano, Lucio, Savasta, Salvatore, Foiadelli, Thomas, Sanfilippo, Giuseppina, Lafe, Elvis, Thyrion, Federico Zappoli, Polonara, Gabriele, Campa, Serena, Raviglione, Federico, Scelsa, Barbara, Bova, Stefania Maria, Greco, Filippo, Cordelli, Duccio Maria, Cirillo, Luigi, Toni, Francesco, Baro, Valentina, Causin, Francesco, Frigo, Anna Chiara, Suppiej, Agnese, Sainati, Laura, Azzolina, Danila, Agostini, Manuela, Cesaroni, Elisabetta, De Carlo, Luigi, Di Rosa, Gabriella, Esposito, Giacomo, Grazian, Luisa, Morini, Giovanna, Nicita, Francesco, Operto, Francesca Felicia, Pruna, Dario, Ragazzi, Paola, Rollo, Massimo, Spalice, Alberto, Striano, Pasquale, Skabar, Aldo, Lanterna, Luigi Alberto, Carai, Andrea, Marras, Carlo Efisio, Manara, Renzo, Sartori, Stefano, Po', Chiara, Nosadini, Margherita, Zedde, Marialuisa, Pascarella, Rosario, Mirone, Giuseppe, Cicala, Domenico, Rosati, Anna, Cosi, Alessandra, Toldo, Irene, Colombatti, Raffaella, Martelli, Paola, Iodice, Alessandro, Accorsi, Patrizia, Giordano, Lucio, Savasta, Salvatore, Foiadelli, Thoma, Sanfilippo, Giuseppina, Lafe, Elvi, Thyrion, Federico Zappoli, Polonara, Gabriele, Campa, Serena, Raviglione, Federico, Scelsa, Barbara, Bova, Stefania Maria, Greco, Filippo, Cordelli, Duccio Maria, Cirillo, Luigi, Toni, Francesco, Baro, Valentina, Causin, Francesco, Frigo, Anna Chiara, Suppiej, Agnese, Sainati, Laura, Azzolina, Danila, Agostini, Manuela, Cesaroni, Elisabetta, De Carlo, Luigi, Di Rosa, Gabriella, Esposito, Giacomo, Grazian, Luisa, Morini, Giovanna, Nicita, Francesco, Operto, Francesca Felicia, Pruna, Dario, Ragazzi, Paola, Rollo, Massimo, Spalice, Alberto, Striano, Pasquale, Skabar, Aldo, Lanterna, Luigi Alberto, Carai, Andrea, Marras, Carlo Efisio, Manara, Renzo, and Sartori, Stefano

Subjects
arteriopathy, indirect revascularization, aspirin, moyamoya, cerebrovascular event, transient ischemic attack, Pediatrics, Perinatology and Child Health, cerebrovascular events, headache, stroke, NO
Abstract

BackgroundMoyamoya is a rare progressive cerebral arteriopathy, occurring as an isolated phenomenon (moyamoya disease, MMD) or associated with other conditions (moyamoya syndrome, MMS), responsible for 6–10% of all childhood strokes and transient ischemic attacks (TIAs).MethodsWe conducted a retrospective multicenter study on pediatric-onset MMD/MMS in Italy in order to characterize disease presentation, course, management, neuroradiology, and outcome in a European country.ResultsA total of 65 patients (34/65 women) with MMD (27/65) or MMS (38/65) were included. About 18% (12/65) of patients were asymptomatic and diagnosed incidentally during investigations performed for an underlying condition (incMMS), whereas 82% (53/65) of patients with MMD or MMS were diagnosed due to the presence of neurological symptoms (symptMMD/MMS). Of these latter, before diagnosis, 66% (43/65) of patients suffered from cerebrovascular events with or without other manifestations (ischemic stroke 42%, 27/65; TIA 32%, 21/65; and no hemorrhagic strokes), 18% (12/65) of them reported headache (in 4/12 headache was not associated with any other manifestation), and 26% (17/65) of them experienced multiple phenotypes (≥2 among: stroke/TIA/seizures/headache/others). Neuroradiology disclosed ≥1 ischemic lesion in 67% (39/58) of patients and posterior circulation involvement in 51% (30/58) of them. About 73% (47/64) of patients underwent surgery, and 69% (45/65) of them received aspirin, but after diagnosis, further stroke events occurred in 20% (12/61) of them, including operated patients (11%, 5/47). Between symptom onset and last follow-up, the overall patient/year incidence of stroke was 10.26% (IC 95% 7.58–13.88%). At last follow-up (median 4 years after diagnosis, range 0.5–15), 43% (26/61) of patients had motor deficits, 31% (19/61) of them had intellectual disability, 13% (8/61) of them had epilepsy, 11% (7/61) of them had behavioral problems, and 25% (13/52) of them had mRS > 2. The proportion of final mRS > 2 was significantly higher in patients with symptMMD/MMS than in patients with incMMS (p = 0.021). Onset age p = 0.0010 and p = 0.0071, respectively) and mRS > 2 at follow-up (p = 0.0106 and p = 0.0009, respectively).ConclusionsMoyamoya is a severe condition that may affect young children and frequently cause cerebrovascular events throughout the disease course, but may also manifest with multiple and non-cerebrovascular clinical phenotypes including headache (isolated or associated with other manifestations), seizures, and movement disorder. Younger onset age and stroke before diagnosis may associate with increased risk of worse outcome (final mRS > 2).

Published
2022

49. Electroclinical Features and Long-Term Outcome of Cryptogenic Epilepsy in Children with Down Syndrome

Author

Verrotti, Alberto, Cusmai, Raffaella, Nicita, Francesco, Pizzolorusso, Antonella, Elia, Maurizio, Zamponi, Nelia, Cesaroni, Elisabetta, Granata, Tiziana, De Giorgi, Ilaria, Giordano, Lucio, Grosso, Salvatore, Pavone, Piero, Franzoni, Emilio, Coppola, Giangennaro, Cerminara, Caterina, Curatolo, Paolo, Savasta, Salvatore, Striano, Pasquale, Parisi, Pasquale, Romeo, Antonino, and Spalice, Alberto

Published
2013
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