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1. TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

Author

de Vries, Petrus J., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D’Amato, Lisa, d’Augères, Guillaume B., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Kingswood, J. Chris, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O’Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C., and on behalf of TOSCA Consortium and TOSCA Investigators

Published
2018
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3. Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry

Author

Nabbout, Rima, primary, Belousova, Elena, additional, Benedik, Mirjana P., additional, Carter, Tom, additional, Cottin, Vincent, additional, Curatolo, Paolo, additional, Dahlin, Maria, additional, D'Amato, Lisa, additional, Beaure d'Augères, Guillaume, additional, de Vries, Petrus J., additional, Ferreira, José C., additional, Feucht, Martha, additional, Fladrowski, Carla, additional, Hertzberg, Christoph, additional, Jozwiak, Sergiusz, additional, Lawson, John A., additional, Macaya, Alfons, additional, Marques, Ruben, additional, O'Callaghan, Finbar, additional, Qin, Jiong, additional, Sauter, Matthias, additional, Shah, Seema, additional, Takahashi, Yukitoshi, additional, Touraine, Renaud, additional, Youroukos, Sotiris, additional, Zonnenberg, Bernard, additional, Jansen, Anna C., additional, and Kingswood, J. Chris, additional

Published
2021
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4. Rare manifestations and malignancies in tuberous sclerosis complex: Findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

Author

Sauter, Matthias, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, D'Augeres, Guillaume B., de Vries, Petrus J., Ferreira, Jose C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna, Kingswood, J. Chris, Verhelst, Helene, on behalf of the TOSCA investigators, [ missing ], Institut Català de la Salut, [Sauter M] Klinikum Kempten, Klinikverbund Allgäu, Robert-Weixler-Str. 50, 87439 Kempten, Germany. [Belousova E] Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russian Federation. [Benedik MP] SPS Pediatrična Klinika, Ljubljana, Slovenia. [Carter T] TSA Tuberous Sclerosis Association, Nottingham, UK. [Cottin V] Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. [Curatolo P] Tor Vergata University Hospital, Rome, Italy. [Macaya A] Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Division of Child and Adolescent Psychiatry, Faculty of Health Sciences, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Neuroprotection & Neuromodulation, and Pediatrics

Subjects
0301 basic medicine, Male, Angiomyolipoma, Adrenal Gland Neoplasms, RECOMMENDATIONS, Tuberous Sclerosis Complex 1 Protein, técnicas de investigación::métodos epidemiológicos::recopilación de datos::registros [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Esclerosi tuberosa - Aspectes genètics, Tuberous sclerosis, 0302 clinical medicine, afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras [ENFERMEDADES], TUMOR, neoplasias::hamartoma::esclerosis tuberosa [ENFERMEDADES], Tuberous Sclerosis, Medicine and Health Sciences, Pharmacology (medical), Registries, Child, Thyroid cancer, Genetics (clinical), TSC, education.field_of_study, Otros calificadores::Otros calificadores::/genética [Otros calificadores], General Medicine, Registres mèdics, medicine.anatomical_structure, Tuberous Sclerosis/genetics, Medicine, Female, Malalties rares, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Tuberous Sclerosis Complex 1 Protein/genetics, LYMPHEDEMA, Mutation/genetics, Rare manifestation, Population, 03 medical and health sciences, Tuberous Sclerosis Complex 2 Protein, medicine, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Pediatrics, Perinatology, and Child Health, education, Hemihypertrophy, TOSCA, Retrospective Studies, business.industry, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases [DISEASES], Research, Thyroid adenoma, Malignancy, medicine.disease, Dermatology, Investigative Techniques::Epidemiologic Methods::Data Collection::Registries [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], 030104 developmental biology, Tuberous Sclerosis Complex 2 Protein/genetics, Tuberous sclerosis complex, Mutation, TSC1, business, 030217 neurology & neurosurgery, Rare disease, Neoplasms::Hamartoma::Tuberous Sclerosis [DISEASES]
Abstract

BackgroundTuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either theTSC1orTSC2gene. Common manifestations of TSC have been grouped into major and minor clinical diagnostic criteria and assessed in clinical routine workup. However, case studies point towards the existence of rare disease manifestations and to the potential association of TSC with malignant tumors. In this study we sought to characterize rare manifestations and malignancies using a large cohort of patients.MethodsTuberOus SClerosis registry to increAse disease awareness (TOSCA) is a multicenter, international disease registry collecting clinical manifestations and characteristics of patients with TSC, both retrospectively and prospectively. We report rates and characteristics of rare manifestations and malignancies in patients with TSC who had enrolled in the TOSCA registry. We also examined these manifestations by age, sex, and genotype (TSC1orTSC2).ResultsOverall, 2211 patients with TSC were enrolled in the study. Rare manifestations were reported in 382 (17.3%) study participants and malignancies in 65 (2.9%). Of these rare manifestations, the most frequent were bone sclerotic foci (39.5%), scoliosis (23%), thyroid adenoma (5.5%), adrenal angiomyolipoma (4.5%), hemihypertrophy and pancreatic neuroendocrine tumors (pNET; both 3.1%). These rare manifestations were more commonly observed in adults than children (66.2% vs. 22.7%), in females versus males (58.4% vs. 41.6%; except for scoliosis: 48.9% vs. 51.1%), and in those withTSC2versusTSC1(67.0% vs. 21.1%; except for thyroid adenoma: 42.9% vs. 57.1%). In the 65 individuals with reported malignancies, the most common were renal cell carcinoma (47.7%), followed by breast (10.8%) and thyroid cancer (9.2%). Although malignancies were more common in adult patients, 26.1% were reported in children and 63.1% in individuals TSC1mutations were over-represented in individuals with malignancies compared to the overall TOSCA cohort (32.1% vs. 18.5%).ConclusionRare manifestations were observed in a significant proportion of individuals with TSC. We recommend further examination of rare manifestations in TSC. Collectively, malignancies were infrequent findings in our cohort. However, compared to the general population, malignant tumors occurred earlier in age and some tumor types were more common.

Published
2021

5. Additional file 1 of Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

Author

Sauter, Matthias, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D’Amato, Lisa, d’Augères, Guillaume B., de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O’Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna, and Kingswood, J. Chris

Abstract

Additional File 1. Supplementary Table 1. Overall rare manifestations by organ class. Supplementary Table 2. Rare manifestations and the rationale for their exclusion from the analysis.

Published
2021
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6. Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry

Author

Nabbout, Rima Belousova, Elena Benedik, Mirjana P. Carter, Tom Cottin, Vincent Curatolo, Paolo Dahlin, Maria and D'Amato, Lisa d'Augeres, Guillaume Beaure de Vries, Petrus J. and Ferreira, Jose C. Feucht, Martha Fladrowski, Carla and Hertzberg, Christoph Jozwiak, Sergiusz Lawson, John A. and Macaya, Alfons Marques, Ruben O'Callaghan, Finbar Qin, Jiong and Sauter, Matthias Shah, Seema Takahashi, Yukitoshi and Touraine, Renaud Youroukos, Sotiris Zonnenberg, Bernard and Jansen, Anna C. Kingswood, J. Chris TOSCA Consortium TOSCA Investigato

Abstract

Background: Epilepsy is the most common neurological manifestation in individuals with tuberous sclerosis complex (TSC). However, real-world evidence on diagnosis and treatment patterns is limited. Here, we present data from TuberOus Sclerosis registry to increase disease Awareness (TOSCA) on changes in patterns of epilepsy diagnosis, treatments, and outcomes over time, and detailed epilepsy characteristics from the epilepsy substudy. Methods: TuberOus Sclerosis registry to increase disease Awareness (TOSCA) was a multicentre, international disease registry, consisting of a main study that collected data on overall diagnostic characteristics and associated clinical features, and six substudies focusing on specific TSC manifestations. The epilepsy substudy investigated detailed epilepsy characteristics and their correlation to genotype and intelligence quotient (IQ). Results: Epilepsy was reported in 85% of participants, more commonly in younger individuals (67.8% in 1970s to 91.8% in last decade), while rate of treatments was similar across ages (>93% for both infantile spasms and focal seizures, except prior to 1960). Vigabatrin (VGB) was the most commonly used antiepileptic drugs (AEDs). Individuals with infantile spasms showed a higher treatment response over time with lower usage of steroids. Individuals with focal seizures reported similar rates of drug resistance (32.5-43.3%). Use of vagus nerve stimulation (VNS), ketogenic diet, and surgery remained low. Discussion: The epilepsy substudy included 162 individuals from nine countries. At epilepsy onset, most individuals with infantile spasms (73.2%) and focal seizures (74.5%) received monotherapies. Vigabatrin was first-line treatment in 45% of individuals with infantile spasms. Changes in initial AEDs were commonly reported due to inadequate efficacy. TSC1 mutations were associated with less severe epilepsy phenotypes and more individuals with normal IQ. In individuals with TSC diagnosis before seizure onset, electroencephalogram (EEG) was performed prior to seizures in only 12.5 and 25% of subsequent infantile spasms and focal seizures, respectively. Conclusions: Our study confirms the high prevalence of epilepsy in TSC individuals and less severe phenotypes with TSC1 mutations. Vigabatrin improved the outcome of infantile spasms and should be used as first-line treatment. There is, however, still a need for improving therapies in focal seizures. Electroencephalogram follow-up prior to seizure-onset should be promoted for all infants with TSC in order to facilitate preventive or early treatment.

Published
2021

8. Rare manifestations and malignancies in tuberous sclerosis complex: Findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

Author

Sauter, Matthias, primary, Belousova, Elena, additional, Benedik, Mirjana P, additional, Carter, Tom, additional, Cottin, Vincent, additional, Curatolo, Paolo, additional, Dahlin, Maria, additional, D´Amato, Lisa, additional, d'Augères, Guillaume B., additional, de Vries, Petrus J, additional, Ferreira, Jose C, additional, Feucht, Martha, additional, Fladrowski, Carla, additional, Hertzberg, Christoph, additional, Jozwiak, Sergiusz, additional, Lawson, John A, additional, Macaya, Alfons, additional, Marques, Ruben, additional, Nabbout, Rima, additional, O’Callaghan, Finbar, additional, Qin, Jiong, additional, Sander, Valentin, additional, Shah, Seema, additional, Takahashi, Yukitoshi, additional, Touraine, Renaud, additional, Youroukos, Sotiris, additional, Zonnenberg, Bernard, additional, Jansen, Anna, additional, and Kingswood, John C, additional

Published
2021
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12. Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas

Author

Kingswood, J. Chris, primary, Belousova, Elena, additional, Benedik, Mirjana P., additional, Carter, Tom, additional, Cottin, Vincent, additional, Curatolo, Paolo, additional, Dahlin, Maria, additional, D'Amato, Lisa, additional, Beaure d'Augères, Guillaume, additional, de Vries, Petrus J., additional, Ferreira, José C., additional, Feucht, Martha, additional, Fladrowski, Carla, additional, Hertzberg, Christoph, additional, Jozwiak, Sergiusz, additional, Lawson, John A., additional, Macaya, Alfons, additional, Marques, Ruben, additional, Nabbout, Rima, additional, O'Callaghan, Finbar, additional, Qin, Jiong, additional, Sander, Valentin, additional, Shah, Seema, additional, Takahashi, Yukitoshi, additional, Touraine, Renaud, additional, Youroukos, Sotiris, additional, Zonnenberg, Bernard, additional, Jansen, Anna C., additional, and Sauter, Matthias, additional

Published
2020
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13. Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study

Author

Jansen, Anna C., primary, Vanclooster, Stephanie, additional, de Vries, Petrus J., additional, Fladrowski, Carla, additional, Beaure d'Augères, Guillaume, additional, Carter, Tom, additional, Belousova, Elena, additional, Benedik, Mirjana P., additional, Cottin, Vincent, additional, Curatolo, Paolo, additional, Dahlin, Maria, additional, D'Amato, Lisa, additional, Ferreira, José C., additional, Feucht, Martha, additional, Hertzberg, Christoph, additional, Jozwiak, Sergiusz, additional, Lawson, John A., additional, Macaya, Alfons, additional, Marques, Ruben, additional, Nabbout, Rima, additional, O'Callaghan, Finbar, additional, Qin, Jiong, additional, Sander, Valentin, additional, Sauter, Matthias, additional, Shah, Seema, additional, Takahashi, Yukitoshi, additional, Touraine, Renaud, additional, Youroukos, Sotiris, additional, Zonnenberg, Bernard, additional, and Kingswood, J. Chris, additional

Published
2020
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14. Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years

Author

Kekou, Kyriaki, primary, Svingou, Maria, additional, Sofocleous, Christalena, additional, Mourtzi, Niki, additional, Nitsa, Evangelia, additional, Konstantinidis, George, additional, Youroukos, Sotiris, additional, Skiadas, Konstantinos, additional, Katsalouli, Marina, additional, Pons, Roser, additional, Papavasiliou, Antigoni, additional, Kotsalis, Charalabos, additional, Pavlou, Evangelos, additional, Evangeliou, Athanasios, additional, Katsarou, Efstathia, additional, Voudris, Konstantinos, additional, Dinopoulos, Argirios, additional, Vorgia, Pelagia, additional, Niotakis, George, additional, Diamantopoulos, Nikolaos, additional, Nakou, Iliada, additional, Koute, Vasiliki, additional, Vartzelis, George, additional, Papadimas, George-Konstantinos, additional, Papadopoulos, Constantinos, additional, Tsivgoulis, Georgios, additional, and Traeger-Synodinos, Joanne, additional

Published
2020
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16. Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry

Author

Marques, Ruben, Belousoye, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, d'Augeres, Guillaume Beaure, de Vries, Petrus J., Ferreira, Jose C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, John C., Jansen, Anna C., Shinohara, Nobuo, LIorie, Shigeo, Kubota, Masaya, Tohyama, Jun, Imai, Katsumi, Kaneda, Mari, Kaneko, Hideo, Uchida, Yasushi, Kirino, Tomoko, Endo, Shoichi, Inoue, Yoshikazu, Uruno, Katsuhisa, Serdaroglu, Ayse, Yapici, Zuhal, Anlar, Banu, Altunbasak, Sakir, Lvova, Olga, Belyaev, Oleg Valeryevich, Agranovich, Oleg, Levitina, Elena Vladislavovna, Maksimova, Yulia Vladimirovna, Karas, Antonina, Jiang, Yuwu, Zou, Liping, Xu, Kaifeng, Zhang, Yushi, Luan, Guoming, Zhang, Yuqin, Wang, Yi, Jin, Meiling, Ye, Dingwei, Liao, Weiping, Zhou, Liemin, Liu, Jie, Liao, Jianxiang, Yan, Bo, Deng, Yanchun, Jiang, Li, Liu, Zhisheng, Huang, Shaoping, Li, Hua, Kim, Kijoong, Chen, Pei-Lung, Lee, Hsiu-Fen, Tsai, Jeng-Dau, Chi, Ching-Shiang, Huang, Chao-Ching, Riney, Australia Kate, Yates, Deborah, Kwan, Patrick, Likasitwattanakul, Surachai, Nabangchang, Charcrin, Chomtho, Lunliya Thampratankul Krisnachai, Katanyuwong, Kamornwan, Sriudomkajorn, Somjit, Wilmshurst, Jo, Segel, Reeval, Gilboa, Tal, Tzadok, Michal, Fattal-Valevski, Aviva, Papathanasopoulos, Panagiotis, Papavasiliou, Antigone Syrigou, Giannakodimos, Stylianos, Gatzonis, Stylianos, Pavlou, Evangelos, Tzoufi, Meropi, Vergeer, A. M. M., Dhooghe, Marc, Verhelst, Helene, Roelens, Filip, Nassogne, Marie Cecile, Defresne, Pierre, De Waele, Liesbeth, Leroy, Patricia, Demonceau, Nathalie, Legros, Benjamin, Van Bogaert, Patrick, Ceulemans, Berten, Dom, Lina, Castelnau, Pierre, Martin, Anne De Saint, Riquet, Audrey, Milh, Mathieu, Cances, Claude, Pedespan, Jean-Michel, Ville, Dorothee, Roubertie, Agathe, Auvin, Stephane, Berquin, Patrick, Richelme, Christian, Allaire, Catherine, Gueden, Sophie, Tich, Sylvie Nguyen The, Godet, Bertrand, Falco Rojas, Maria Luz Ruiz, Campistol Planas, Jaume, Martinez Bermejo, Antonio, Smeyers Dura, Patricia, Roldan Aparicio, Susana, Martinez Gonzalez, Maria Jesus, Lopez Pison, Javier, Blanco Barca, Manuel Oscar, Lopez Laso, Eduardo, Alonso Luengo, Olga, Aguirre Rodriguez, Francisco Javier, Malaga Dieguez, Ignacio, Camacho Salas, Ana, Marti Carrera, Itxaso, Martinez Salcedo, Eduardo, Yoldi Petri, Maria Eugenia, Cancho Candela, Ramon, Carrilho, Ines da Conceicao, Vieira, Jose Pedro, da Silva Oliveira Monteiro, Jose Paulo, de Oliveira Ferreira Leao, Miguel Jorge Santos, Marceano Ribeiro Luis, Catarina Sofia, Mendonca, Carla Pires, Endziniene, Milda, Strautmanis, Jurgis, Talvik, Inga, Canevini, Maria Paola, Gambardella, Antonio, Pruna, Dario, Buono, Salvatore, Fontana, Elena, Dalla Bernardina, Bernardo, Burloiu, Carmen, Cosma, Iuliu Stefan Bacos, Vintan, Mihaela Adela, Popescu, Laura, Zitterbart, Karel, Payerova, Jaroslava, Bratsky, Ladislav, Zilinska, Zuzana, Gruber-Sedlmayr, Ursula, Baumann, Matthias, Laberlandt, Edda, Rostasy, Kevin, Pataraia, Ekaterina, Elmslie, Frances, Johnston, Clare Ann, Crawford, Pamela, Uldall, Peter, Uvebrant, Paul, Rask, Olof, Bjoernvold, Marit, Brodtkorb, Eylert, Sloerdahi, Andreas, Solhoff, Ragnar, Jaatun, Martine Sofie Gilje, Mandera, Marek, Radzikowska, Elzbieta Janina, Wysocki, Mariusz, Fischereder, Michael, Kurlemann, Gerhard, Wilken, Bernd, Wiemer-Kruel, Adelheid, Budde, Klemens, Marquard, Klaus, Knuf, Markus, Hahn, Andreas, Hartmann, Hans, Merkenschlager, Andreas, Trollmann, Regina, Consortium, TOSCA, Investigators, TOSCA, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, De Waele, L, [Marques R] Novartis Farma SpA, Origgio, Italy. Institute of Biomedicine (IBIOMED), University of Leon, León, Spain. [Belousova E] Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia. [Benedik MP] SPS Pediatrična Klinika, Ljubljana, Slovenia. [Carter T] TSA Tuberous Sclerosis Association, Nottingham, United Kingdom. [Cottin V] Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. [Curatolo P] Tor Vergata University Hospital, Rome, Italy. [Macaya A] Servei de Pediatria General i Especialitats, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Novartis Pharma AG, Universidad de León [León], Pirogov Russian National Reasearch Medical University Moscow, University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), TSA Tuberous Sclerosis Association, Nottingham, United Kingdom, Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Department of Public Health and Cell Biology, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy, Karolinska Institutet [Stockholm], Association Sclérose Tubéreuse de Bourneville (Gradignan), University of Cape Town, Centro Hospitalar de Lisboa Central E.P.E, Medizinische Universität Wien = Medical University of Vienna, Universitätsklinik für Kinder-und Jugendheilkunde, Vivantes Klinikum Neukölln [Berlin, Germany] (VKN), Medical University of Warsaw - Poland, Sydney Children's hospital, Fundació Institut de Recerca de l'Hospital Universitari Vall d'Hebron, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Institute of Child Health [London], University College of London [London] (UCL), People's Hospital of Peking University (PEKING - PHPU), Peking University [Beijing], Tallinn Children's Hospital [Tallinn, Estonia], Klinikverbund Kempten-Oberallgäu gGmbH, University of Shizuoka, Service de Génétique Clinique Chromosomique et Moléculaire, CHU Saint-Etienne-Hôpital Nord - Saint-Etienne, St. Sophia Children’s Hospital, Athens, Department of Clinical Genetics, St George’s University Hospitals, and Vrije Universiteit Brussel (VUB)

Subjects
calidad, acceso y evaluación de la atención sanitaria::calidad de la atención sanitaria::mecanismos de evaluación de la atención sanitaria::recopilación de datos::registros [ATENCIÓN DE SALUD], Pediatrics, [SDV]Life Sciences [q-bio], Disease, registry, GUIDELINES, RECOMMENDATIONS, lcsh:RC346-429, Tuberous sclerosis, Epilepsy, 0302 clinical medicine, Health care, Medicine and Health Sciences, 030212 general & internal medicine, TOSCA, TSC, management, rare diseases, resource use, Serveis sanitaris - Administració, Original Research, Esclerosi tuberosa, Settore MED/39, 3. Good health, medicine.anatomical_structure, Neurology, HEALTH-CARE UTILIZATION, BURDEN, Life Sciences & Biomedicine, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Neoplastic Syndromes, Hereditary::Tuberous Sclerosis [DISEASES], enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::síndromes neoplásicos hereditarios::esclerosis tuberosa [ENFERMEDADES], congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Clinical Neurology, DIAGNOSIS, Bases de dades - Disseny, calidad, acceso y evaluación de la atención sanitaria::prestación sanitaria::recursos en salud [ATENCIÓN DE SALUD], 03 medical and health sciences, MANAGEMENT, medicine, Health Care Quality, Access, and Evaluation::Delivery of Health Care::Health Resources [HEALTH CARE], lcsh:Neurology. Diseases of the nervous system, Science & Technology, Subependymal giant cell astrocytoma, business.industry, Neurosciences, medicine.disease, LYMPHANGIOLEIOMYOMATOSIS, Lymphangioleiomyomatosis, Neurosciences & Neurology, GIANT-CELL ASTROCYTOMA, Neurology (clinical), TSC1, business, 030217 neurology & neurosurgery, Health Care Quality, Access, and Evaluation::Quality of Health Care::Health Care Evaluation Mechanisms::Data Collection::Records::Registries [HEALTH CARE], Rare disease
Abstract

TSC; Resource use; TOSCA TSC; Uso de recursos; TOSCA TSC; Ús de recursos; TOSCA Tuberous Sclerosis Complex (TSC) is a rare autosomal-dominant disorder caused by mutations in the TSC1 or TSC2 genes. Patients with TSC may suffer from a wide range of clinical manifestations; however, the burden of TSC and its impact on healthcare resources needed for its management remain unknown. Besides, the use of resources might vary across countries depending on the country-specific clinical practice. The aim of this paper is to describe the use of TSC-related resources and treatment paterns within the TOSCA registry. A total of 2,214 patients with TSC from 31 countries were enrolled and had a follow-up of up to 5 years. A search was conducted to identify the variables containing both medical and non-medical resource use information within TOSCA. This search was performed both at the level of the core project as well as at the level of the research projects on epilepsy, subependymal giant cell astrocytoma (SEGA), lymphangioleiomyomatosis (LAM), and renal angiomyolipoma (rAML) taking into account the timepoints of the study, age groups, and countries. Data from the quality of life (QoL) research project were analyzed by type of visit and age at enrollment. Treatments varied greatly depending on the clinical manifestation, timepoint in the study, and age groups. GAB Aergics were the most prescribed drugs for epilepsy, and mTOR inhibitors are dramatically replacing surgery in patients with SEGA, despite corrent recommendations proposing both treatment options.mTOR inhibitors are also becoming common treatments in rAML and LAMpatients. Forty-two out of the 143 patients (29.4%) who participated in the QoL research project reported inpatient stays over the last year. Data from non-medical resource use showed the critical impact of TSC on job status and capacity. Disability allowances were more common in children than adults (51.1% vs 38.2%). Psychological counseling, social services and social worker services were needed by

Published
2019

17. Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: results from the international TOSCA study

Author

Jansen, Anna C., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, d'Amato, Lisa, d'Augeres, Guillaume Beaure, Vries, Petrus J., Ferreira, Jose C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Fattal-Valevski, Aviva, Papathanasopoulos, Panagiotis, Papavasiliou, Antigone Syrigou, Giannakodimos, Stylianos, Gatzonis, Stylianos, Pavlou, Evangelos, Tzoufi, Meropi, Vergeer, A. M. H., Dhooghe, Marc, Verhelst, Helene, Roelens, Filip, Nassogne, Marie Cecile, Defresne, Pierre, de Waele, Liesbeth, Leroy, Patricia, Demonceau, Nathalie, Legros, Benjamin, van Bogaert, Patrick, Ceulemans, Berten, Dom, Lina, Castelnau, Pierre, Martin, Anne de Saint, Riquet, Audrey, Milh, Mathieu, Cances, Claude, Pedespan, Jean-Michel, Ville, Dorothée, Roubertie, Agathe, Auvin, Stephane, Berquin, Patrick, Richelme, Christian, Allaire, Catherine, Gueden, Sophie, Tich, Sylvie Nguyen The, Godet, Bertrand, Falco Rojas, Maria Luz Ruiz, Campistol Planas, Jaume, Martinez Bermejo, Antonio, Smeyers Dura, Patricia, Roldan Aparicio, Susana, Martinez Gonzalez, Maria Jesus, Lopez Pison, Javier, Blanco Barca, Manuel Oscar, Lopez Laso, Eduardo, Alonso Luengo, Olga, Aguirre Rodriguez, Francisco Javier, Malaga Dieguez, Ignacio, Camacho Salas, Ana, Marti Carrera, Itxaso, Martinez Salcedo, Eduardo, Yoldi Petri, Maria Eugenia, Cancho Candela, Ramon, Carrilho, Ines da Conceicao, Vieira, Jose Pedro, Silva Oliveira Monteiro, Jose Paulo, Oliveira Ferreira Leao, Miguel Jorge Santos, Marceano Ribeiro Luis, Catarina Sofia, Mendonca, Carla Pires, Endziniene, Milda, Strautmanis, Jurgis, Talvik, Inga, Canevini, Maria Paola, Gambardella, Antonio, Pruna, Dario, Buono, Salvatore, Fontana, Elena, Dalla Bernardina, Bernardo, Burloiu, Carmen, Cosma, Iuliu Stefan Bacos, Vintan, Mihaela Adela, Popescu, Laura, Zitterbart, Karel, Payerova, Jaroslava, Bratsky, Ladislav, Zilinska, Zuzana, Gruber-Sedlmayr, Ursula, Baumann, Matthias, Haberlandt, Edda, Rostasy, Kevin, Pataraia, Ekaterina, Elmslie, Frances, Johnston, Clare Ann, Crawford, Pamela, Uldall, Peter, Dahlin, Maria, Uvebrant, Paul, Rask, Olof, Bjoernvold, Marit, Brodtkorb, Eylert, Sloerdahl, Andreas, Solhoff, Ragnar, Jaatun, Martine Sofie Gilje, Mandera, Marek, Radzikowska, Elzbieta Janina, Wysocki, Mariusz, Fischereder, Michael, Kurlemann, Gerhard, Wilken, Bernd, Wiemer-Kruel, Adelheid, Budde, Klemens, Marquard, Klaus, Knuf, Markus, Hahn, Andreas, Hartmann, Hans, Merkenschlager, Andreas, Trollmann, Regina, [Jansen AC] Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel VUB, Brussels, Belgium. [Belousova E] Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia. [Benedik MP] Child Neurology Department, SPS Pediatriêna Klinika, Ljubljana, Slovenia. [Carter T] Tuberous Sclerosis Association, Nottingham, United Kingdom. [Cottin V] Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. [Curatolo P] Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University Hospital, Rome, Italy. [Macaya A] Neurologia pediàtrica, Hospital Universitari Vall d’Hebron, Barcelona, Spain, Departament de Salut, Moscow Regional Research Clinical Institute (MONICA), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Infections Virales et Pathologie Comparée - UMR 754 (IVPC), Institut National de la Recherche Agronomique (INRA)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Association Sclérose Tubéreuse de Bourneville (Gradignan), Universitat Autònoma de Barcelona (UAB), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), University Medical Center [Utrecht], Department of Neurology, University Hospital Patras, University Hospitals Leuven [Leuven], CHU de Liège, Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers (UA), University of Antwerp (UA), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), UMR 1253 IBrain Imagerie & Cerveau Equipe 3 'Imagerie, Biomarqueurs & Thérapie' (IBT), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Les Hôpitaux Universitaires de Strasbourg (HUS), Service de Neuro-pédiatrie[Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de neurologie pédiatrique [CHU de Bordeaux], CHU de Bordeaux Pellegrin [Bordeaux], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré [Paris], Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital l'Archet, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Neurologie [Chateaulin], Centre Toul-arC'hoat, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Service de Neurologie [CHU Limoges], CHU Limoges, Lithuanian University of Health Sciences [Kaunas, Lithuania], Regional Epilepsy Center, Reggio Calabria, Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Witten/Herdecke University, St. George's Hospital, Danish Epilepsy Centre, Denmark and Aarhus University, Aarhus, Department of Pediatric Hematology and Oncology, Collegium Medicum, Nicolaus Copernicus University [Toruń], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], The International TOSCA Study, De Waele, L, and Neurogenetics

Subjects
0301 basic medicine, Pediatrics, Neurology, [SDV]Life Sciences [q-bio], Nervous System Diseases::Nervous System Diseases::Nervous System Diseases::Neurodegenerative Diseases::Heredodegenerative Disorders, Nervous System::Tuberous Sclerosis [DISEASES], tuberous sclerosis complex, 030105 genetics & heredity, registry, SEGA, lcsh:RC346-429, RECOMMENDATIONS, Tuberous sclerosis, 0302 clinical medicine, Medicine and Health Sciences, Original Research, Esclerosi tuberosa, TUMORS, 3. Good health, mTOR, medicine.symptom, Life Sciences & Biomedicine, Astrocitomes, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Persons::Age Groups::Adult [NAMED GROUPS], Clinical Neurology, Newly diagnosed, Asymptomatic, 03 medical and health sciences, medicine, MANAGEMENT, Adults, In patient, lcsh:Neurology. Diseases of the nervous system, TOSCA, personas::Grupos de Edad::adulto [DENOMINACIONES DE GRUPOS], Science & Technology, Subependymal giant cell astrocytoma, business.industry, Neurosciences, enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades neurodegenerativas::trastornos heredodegenerativos del sistema nervioso::esclerosis tuberosa [ENFERMEDADES], neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::neoplasias neuroepiteliales::glioma::astrocitoma [ENFERMEDADES], medicine.disease, Clinical neurology, nervous system diseases, Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neoplasms, Neuroepithelial::Glioma::Astrocytoma [DISEASES], REGISTRY, Neurosciences & Neurology, Neurology (clinical), TSC2, business, 030217 neurology & neurosurgery
Abstract

SEGA; TOSCA; Tuberous sclerosis complex SEGA; TOSCA; Complex d’esclerosi tuberosa SEGA; TOSCA; Complejo de esclerosis tuberosa The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2. The study was funded by Novartis Pharma AG.

Published
2019

18. Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

Author

Karas, Antonina, Jiang, yuwu, Zou, Liping, Xu, Kaifeng, Zhang, yushi, Luan, Guoming, Zhang, yuqin, Wang, yi, Jin, Meiling, ye, Dingwei, Liao, Weiping, Zhou, Liemin, Liu, Jie, Liao, Jianxiang, yan, Bo, Deng, yanchun, Jiang, Li, Liu, Zhisheng, Huang, Shaoping, Li, Hua, Kim, Kijoong, Chen, Pei-Lung, Lee, Hsiu-Fen, Tsai, Jeng-Dau, Chi, Ching-Shiang, Huang, Chao-Ching, Riney, Kate, yates, Deborah, Kwan, Patrick, Likasitwattanakul, Surachai, Nabangchang, Charcrin, Chomtho, Lunliya Thampratankul Krisnachai, Katanyuwong, Kamornwan, Sriudomkajorn, Somjit, Wilmshurst, Jo, Segel, Reeval, Gilboa, Tal, Tzadok, Michal, Fattal-Valevski, Aviva, Papathanasopoulos, Panagiotis, Papavasiliou, Antigone Syrigou, Giannakodimos, Stylianos, Gatz, Stylianos, Pavlou, Evangelos, Tzoufi, Meropi, Vergeer, A. M. H., Dhooghe, Marc, Verhelst, Helene, Roelens, Filip, Nassogne, Marie Cecile, Defresne, Pierre, de Waele, Liesbeth, Leroy, Patricia, Demonceau, Nathalie, Legros, Benjamin, van Bogaert, Patrick, Ceulemans, Berten, Dom, Lina, Castelnau, Pierre, Martin, Anne de St, Riquet, Audrey, Milh, Mathieu, Cances, Claude, Pedespan, Jean-Michel, Ville, Dorothee, Roubertie, Agathe, Auvin, Stephane, Berquin, Patrick, Richelme, Christian, Allaire, Catherine, Gueden, Sophie, Tich, Sylvie Nguyen The, Godet, Bertrand, Rojas, Maria Luz Ruiz Falco, Planas, Jaume Campistol, Bermejo, Antonio Martinez, Dura, Patricia Smeyers, Aparicio, Susana Roldan, Gonzalez, Maria Jesus Martinez, Pison, Javier Lopez, Barca, Manuel Oscar Blanco, Laso, Eduardo Lopez, Luengo, Olga Alonso, Rodriguez, Francisco Javier Aguirre, Dieguez, Ignacio Malaga, Salas, Ana Camacho, Carrera, Itxaso Marti, Salcedo, Eduardo Martinez, Petri, Maria Eugenia yoldi, Candela, Ramon Cancho, Carrilho, Ines da Conceicao, Vieira, Jose Pedro, Monteiro, Jose Paulo da Silva Oliveira, Leao, Miguel Jorge Santos de Oliveira Ferreira, Luis, Catarina Sofia Marceano Ribeiro, Mendonca, Carla Pires, Endziniene, Milda, Strautmanis, Jurgis, Talvik, Inga, Canevini, Maria Paola, Gambardella, Antonio, Pruna, Dario, Buono, Salvatore, Fontana, Elena, Dalla Bernardina, Bernardo, Burloiu, Carmen, Cosma, Iuliu Stefan Bacos, Vintan, Mihaela Adela, Popescu, Laura, Zitterbart, Karel, Payerova, Jaroslava, Bratsky, Ladislav, Zilinska, Zuzana, Gruber-Sedlmayr, Ursula, Baumann, Matthias, Haberland, Edda, Rostasy, Kevin, Pataraia, Ekaterina, Elmslie, Frances, Johnston, Clare Ann, Crawford, Pamela, Uldall, Peter, Uvebrant, Paul, Rask, Olof, Bjoernvold, Marit, Brodtkorb, Eylert, Sloerdahl, Andreas, Solhoff, Ragnar, Jaatun, Martine Sofie Gilje, Mandera, Marek, Radzikowska, Elzbieta Janina, Wysocki, Mariusz, Fischereder, Michael, Kurlemann, Gerhard, Wilken, Bernd, Wiemer-Kruel, Adelheid, Budde, Klemens, Marquard, Klaus, Knuf, Markus, Hahn, Andreas, Hartmann, Hans, Merkenschlager, Andreas, Trollmann, Regina, Jansen, Anna C., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, d'Amato, Lisa, d'Augeres, Guillaume Beaure, Vries, Petrus J., Ferreira, Jose C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, yukitoshi, Touraine, Renaud, youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, John C., Shinohara, Nobuo, Horie, Shigeo, Kubota, Masaya, Tohyama, Jun, Imai, Katsumi, Kaneda, Mari, Kaneko, Hideo, Uchida, yasushi, Kirino, Tomoko, Endo, Shoichi, Inoue, yoshikazu, Uruno, Katsuhisa, Serdaroglu, Ayse, yapici, Zuhal, Anlar, Banu, Altunbasak, Sakir, Lvova, Olga, Belyaev, Oleg Valeryevich, Agranovich, Oleg, Levitina, Elena Vladislavovna, Maksimova, yulia Vladimirovna, Johns Hopkins University (JHU), Fudan University [Shanghai], EED, University of California [Los Angeles] (UCLA), University of California-University of California, Chimie pour la Reconnaissance et l’Etude d’Assemblages Biologiques (CREAB), SYstèmes Moléculaires et nanoMatériaux pour l’Energie et la Santé (SYMMES), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Département Interfaces pour l'énergie, la Santé et l'Environnement (DIESE), Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), College of Computing (GATECH), Georgia Institute of Technology [Atlanta], Institute for Human Genetics, Safra Children's Hospital, Department of Neurology, University Hospital Patras, University Hospitals Leuven [Leuven], CHU de Liège, Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers (UA), University of Antwerp (UA), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de Neuro-pédiatrie[Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Pédiatrie [CHU Toulouse], CHU Toulouse [Toulouse], Service de neurologie pédiatrique [CHU de Bordeaux], CHU de Bordeaux Pellegrin [Bordeaux], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital l'Archet, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Neurologie [Chateaulin], Centre Toul-arC'hoat, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Service de Neurologie [CHU Limoges], CHU Limoges, Lithuanian University of Health Sciences [Kaunas, Lithuania], Regional Epilepsy Center, Reggio Calabria, Innsbruck Medical University [Austria] (IMU), Witten/Herdecke University, St. George's Hospital, Danish Epilepsy Centre, Denmark and Aarhus University, Aarhus, Department of Pediatric Hematology and Oncology, Collegium Medicum, Nicolaus Copernicus University [Toruń], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Moscow Regional Research Clinical Institute (MONICA), Infections Virales et Pathologie Comparée - UMR 754 (IVPC), Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Universitat Autònoma de Barcelona (UAB), CHU Necker - Enfants Malades [AP-HP], Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC), Service de Génétique Clinique Chromosomique et Moléculaire, CHU Saint-Etienne-Hôpital Nord - Saint-Etienne, Department of Clinical Genetics, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, De Waele, L, University of California (UC)-University of California (UC), UMR 1253 IBrain Imagerie & Cerveau Equipe 3 'Imagerie, Biomarqueurs & Thérapie' (IBT), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Institut National de la Recherche Agronomique (INRA)-École Pratique des Hautes Études (EPHE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), [Jansen AC] Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium. [Belousova E] Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia. [Benedik MP] Child Neurology Department, SPS Pediatriêna Klinika, Ljubljana, Slovenia. [Carter T] Tuberous Sclerosis Association, Nottingham, United Kingdom. [Cottin V] Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. [Curatolo P] Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University Hospital, Rome, Italy. [Macaya A] Neurologia pediàtrica, Hospital Universitari Vall d’Hebron, Barcelona, Spain., and Vall d'Hebron Barcelona Hospital Campus

Subjects
Quinases, Pediatrics, enzimas y coenzimas::enzimas::transferasas::fosfotransferasas::fosfotransferasas (grupo alcohol aceptor)::proteína cinasas::proteína-serina-treonina cinasas::TOR serina-treonina cinasas [COMPUESTOS QUÍMICOS Y DROGAS], Angiomyolipoma, Neurology, [SDV]Life Sciences [q-bio], CHILDREN, tuberous sclerosis complex, registry, Neoplasms::Neoplasms by Histologic Type::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Neoplasms, Neuroepithelial::Glioma::Neoplasms::Neoplasms by Histologic Type::Astrocytoma [DISEASES], SEGA, RECOMMENDATIONS, DISEASE, lcsh:RC346-429, Tuberous sclerosis, DOUBLE-BLIND, 0302 clinical medicine, EVEROLIMUS, neoplasias::hamartoma::esclerosis tuberosa [ENFERMEDADES], Medicine and Health Sciences, 030212 general & internal medicine, Original Research, Intracranial pressure, Esclerosi tuberosa, 3. Good health, medicine.anatomical_structure, mTOR, Astrocitomes, Life Sciences & Biomedicine, medicine.drug, medicine.medical_specialty, Clinical Neurology, DIAGNOSIS, 03 medical and health sciences, medicine, MANAGEMENT, TOSCA, lcsh:Neurology. Diseases of the nervous system, Everolimus, Science & Technology, Subependymal giant cell astrocytoma, business.industry, ANGIOMYOLIPOMA, neoplasias::neoplasias por tipo histológico::neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::neoplasias neuroepiteliales::glioma::neoplasias::neoplasias por tipo histológico::astrocitoma [ENFERMEDADES], Neurosciences, medicine.disease, SEVERITY, Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Serine-Threonine Kinases::TOR Serine-Threonine Kinases [CHEMICALS AND DRUGS], Neurology (clinical), TSC1, Neurosciences & Neurology, TSC2, business, 030217 neurology & neurosurgery, Neoplasms::Hamartoma::Tuberous Sclerosis [DISEASES]
Abstract

SEGA; TOSCA; Tuberous sclerosis complex SEGA; TOSCA; Complejo de esclerosis tuberosa SEGA; TOSCA; Complex d'esclerosi tuberosa Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA). Methods: The study was conducted at 170 sites across 31 countries. Data from patients of any age with a documented clinical visit for TSC in the 12 months preceding enrollment or those newly diagnosed with TSC were entered. Results: SEGA were reported in 554 of 2,216 patients (25%). Median age at diagnosis of SEGA was 8 years (range, 18 years. SEGA were symptomatic in 42.1% of patients. Symptoms included increased seizure frequency (15.8%), behavioural disturbance (11.9%), and regression/loss of cognitive skills (9.9%), in addition to those typically associated with increased intracranial pressure. SEGA were significantly more frequent in patients with TSC2 compared to TSC1 variants (33.7 vs. 13.2 %, p < 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%). Conclusions: Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults. The study was funded by Novartis Pharma AG. Novartis has contributed to the study design, data analysis, and the decision to publish. Novartis authors reviewed the draft for submission.

Published
2019

19. Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

Author

Jansen, Anna C. Belousova, Elena Benedik, Mirjana P. Carter, Tom Cottin, Vincent Curatolo, Paolo Dahlin, Maria and D'Amato, Lisa d'Augeres, Guillaume Beaure de Vries, Petrus J. and Ferreira, Jose C. Feucht, Martha Fladrowski, Carla and Hertzberg, Christoph Jozwiak, Sergiusz Lawson, John A. and Macaya, Alfons Marques, Ruben Nabbout, Rima O'Callaghan, Finbar Qin, Jiong Sander, Valentin Sauter, Matthias and Shah, Seema Takahashi, Yukitoshi Touraine, Renaud Youroukos, Sotiris Zonnenberg, Bernard Kingswood, John C. Shinohara, Nobuo Horie, Shigeo Kubota, Masaya Tohyama, Jun Imai, Katsumi Kaneda, Mari Kaneko, Hideo Uchida, Yasushi and Kirino, Tomoko Endo, Shoichi Inoue, Yoshikazu Uruno, Katsuhisa Serdaroglu, Ayse Yapici, Zuhal Anlar, Banu and Altunbasak, Sakir Lvova, Olga Belyaev, Oleg Valeryevich and Agranovich, Oleg Levitina, Elena Vladislavovna Maksimova, Yulia Vladimirovna Karas, Antonina Jiang, Yuwu Zou, Liping Xu, Kaifeng Zhang, Yushi Luan, Guoming Zhang, Yuqin Wang, Yi and Jin, Meiling Ye, Dingwei Liao, Weiping Zhou, Liemin and Liu, Jie Liao, Jianxiang Yan, Bo Deng, Yanchun Jiang, Li and Liu, Zhisheng Huang, Shaoping Li, Hua Kim, Kijoong and Chen, Pei-Lung Lee, Hsiu-Fen Tsai, Jeng-Dau Chi, Ching-Shiang Huang, Chao-Ching Riney, Kate Yates, Deborah and Kwan, Patrick Likasitwattanakul, Surachai Nabangchang, Charcrin Chomtho, Lunliya Thampratankul Krisnachai Katanyuwong, Kamornwan Sriudomkajorn, Somjit Wilmshurst, Jo Segel, Reeval and Gilboa, Tal Tzadok, Michal Fattal-Valevski, Aviva and Papathanasopoulos, Panagiotis Papavasiliou, Antigone Syrigou and Giannakodimos, Stylianos Gatz, Stylianos Pavlou, Evangelos and Tzoufi, Meropi Vergeer, A. M. H. Dhooghe, Marc Verhelst, Helene Roelens, Filip Nassogne, Marie Cecile Defresne, Pierre De Waele, Liesbeth Leroy, Patricia Demonceau, Nathalie Legros, Benjamin Van Bogaert, Patrick Ceulemans, Berten Dom, Lina Castelnau, Pierre Martin, Anne De St and Riquet, Audrey Milh, Mathieu Cances, Claude Pedespan, Jean-Michel Ville, Dorothee Roubertie, Agathe Auvin, Stephane Berquin, Patrick Richelme, Christian Allaire, Catherine Gueden, Sophie Tich, Sylvie Nguyen The Godet, Bertrand Rojas, Maria Luz Ruiz Falco Planas, Jaume Campistol and Bermejo, Antonio Martinez Dura, Patricia Smeyers Aparicio, Susana Roldan Gonzalez, Maria Jesus Martinez Pison, Javier Lopez and Barca, Manuel Oscar Blanco Laso, Eduardo Lopez Luengo, Olga Alonso Rodriguez, Francisco Javier Aguirre Dieguez, Ignacio Malaga Salas, Ana Camacho Carrera, Itxaso Marti Salcedo, Eduardo Martinez Petri, Maria Eugenia Yoldi Candela, Ramon Cancho Carrilho, Ines da Conceicao Vieira, Jose Pedro and Monteiro, Jose Paulo da Silva Oliveira Leao, Miguel Jorge Santos de Oliveira Ferreira Luis, Catarina Sofia Marceano Ribeiro and Mendonca, Carla Pires Endziniene, Milda Strautmanis, Jurgis and Talvik, Inga Canevini, Maria Paola Gambardella, Antonio and Pruna, Dario Buono, Salvatore Fontana, Elena Dalla Bernardina, Bernardo Burloiu, Carmen Cosma, Iuliu Stefan Bacos and Vintan, Mihaela Adela Popescu, Laura Zitterbart, Karel and Payerova, Jaroslava Bratsky, Ladislav Zilinska, Zuzana and Gruber-Sedlmayr, Ursula Baumann, Matthias Haberland, Edda and Rostasy, Kevin Pataraia, Ekaterina Elmslie, Frances and Johnston, Clare Ann Crawford, Pamela Uldall, Peter Uvebrant, Paul Rask, Olof Bjoernvold, Marit Brodtkorb, Eylert and Sloerdahl, Andreas Solhoff, Ragnar Jaatun, Martine Sofie Gilje and Mandera, Marek Radzikowska, Elzbieta Janina Wysocki, Mariusz and Fischereder, Michael Kurlemann, Gerhard Wilken, Bernd and Wiemer-Kruel, Adelheid Budde, Klemens Marquard, Klaus Knuf, Markus Hahn, Andreas Hartmann, Hans Merkenschlager, Andreas and Trollmann, Regina TOSCA Consortium TOSCA Investigators

Abstract

Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA). Methods: The study was conducted at 170 sites across 31 countries. Data from patients of any age with a documented clinical visit for TSC in the 12 months preceding enrollment or those newly diagnosed with TSC were entered. Results: SEGA were reported in 554 of 2,216 patients (25%). Median age at diagnosis of SEGA was 8 years (range, 18 years. SEGA were symptomatic in 42.1% of patients. Symptoms included increased seizure frequency (15.8%), behavioural disturbance (11.9%), and regression/loss of cognitive skills (9.9%), in addition to those typically associated with increased intracranial pressure. SEGA were significantly more frequent in patients with TSC2 compared to TSC1 variants (33.7 vs. 13.2 %, p < 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%). Conclusions: Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults.

Published
2019

20. Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness

Author

Kingswood, J. Chris Belousova, Elena Benedik, Mirjana P. and Carter, Tom Cottin, Vincent Curatolo, Paolo Dahlin, Maria and D' Amato, Lisa d'Augeres, Guillaume Beaure de Vries, Petrus J. Ferreira, Jose C. Feucht, Martha Fladrowski, Carla and Hertzberg, Christoph Jozwiak, Sergiusz Lawson, John A. and Macaya, Alfons Marques, Ruben Nabbout, Rima O'Callaghan, Finbar Qin, Jiong Sander, Valentin Sauter, Matthias and Shah, Seema Takahashi, Yukitoshi Touraine, Renaud Youroukos, Sotiris Zonnenberg, Bernard Jansen, Anna C. TOSCA Consortium and TOSCA Investigators

Abstract

Background Renal angiomyolipoma occurs at a high frequency in patients with tuberous sclerosis complex (TSC) and is associated with potentially life-threatening complications. Despite this frequency and severity, there are no large population-based cohort studies. Here we present baseline and follow-up data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with an aim to provide detailed clinical characteristics of renal angiomyolipoma among patients with TSC. Methods Patients of any age with a documented clinic visit for TSC within 12 months or who were newly diagnosed with TSC before participation in the registry were eligible. Data specific to renal angiomyolipoma included physical tumour characteristics (multiple, bilateral, lesion size and growing lesions), clinical signs and symptoms, and management. The effects of age, gender and genotype on the prevalence of renal angiomyolipoma were also evaluated. Results Renal angiomyolipoma was reported in 51.8% of patients at baseline, with higher frequency in female patients (57.8% versus 42.2%). The median age at diagnosis was 12 years. Prevalence of angiomyolipoma was higher in patients with TSC2 compared with TSC1 mutations (59.2% versus 33.3%, P3cm in 34.3% of patients. Most patients were asymptomatic (82%). Frequently reported angiomyolipoma-related symptoms included bleeding, pain, elevated blood pressure and impaired renal function. Embolization and mammalian target of rapamycin inhibitors were the two most common treatment modalities. Conclusions The TOSCA registry highlights the burden of renal angiomyolipoma in patients with TSC and shows that renal manifestations are initially asymptomatic and are influenced by gender and genotype. Furthermore, the occurrence of significant problems from angiomyolipoma in a minority of younger patients suggests that surveillance should begin in infancy or at initial diagnosis.

Published
2019

21. The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases

Author

Marques, Ruben, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, Beaure d'Augères, Guillaume, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C., Jozwiak, Sergiusz, Kingswood, John C., Lawson, John A., Macaya, Alfons, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Nabbout, Rima, TOSCA Consortium and TOSCA Investigators, Marques, Ruben, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, Beaure d'Augères, Guillaume, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C., Jozwiak, Sergiusz, Kingswood, John C., Lawson, John A., Macaya, Alfons, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Nabbout, Rima, and TOSCA Consortium and TOSCA Investigators

Published
2019

22. The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases

Author

MS Interne Geneeskunde, Marques, Ruben, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, Beaure d'Augères, Guillaume, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C., Jozwiak, Sergiusz, Kingswood, John C., Lawson, John A., Macaya, Alfons, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Nabbout, Rima, TOSCA Consortium and TOSCA Investigators, MS Interne Geneeskunde, Marques, Ruben, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, Beaure d'Augères, Guillaume, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C., Jozwiak, Sergiusz, Kingswood, John C., Lawson, John A., Macaya, Alfons, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Nabbout, Rima, and TOSCA Consortium and TOSCA Investigators

Published
2019

23. The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases

Author

Marques, Ruben, primary, Belousova, Elena, additional, Benedik, Mirjana P., additional, Carter, Tom, additional, Cottin, Vincent, additional, Curatolo, Paolo, additional, Dahlin, Maria, additional, D'Amato, Lisa, additional, Beaure d'Augères, Guillaume, additional, de Vries, Petrus J., additional, Ferreira, José C., additional, Feucht, Martha, additional, Fladrowski, Carla, additional, Hertzberg, Christoph, additional, Jansen, Anna C., additional, Jozwiak, Sergiusz, additional, Kingswood, John C., additional, Lawson, John A., additional, Macaya, Alfons, additional, O'Callaghan, Finbar, additional, Qin, Jiong, additional, Sander, Valentin, additional, Sauter, Matthias, additional, Shah, Seema, additional, Takahashi, Yukitoshi, additional, Touraine, Renaud, additional, Youroukos, Sotiris, additional, Zonnenberg, Bernard, additional, and Nabbout, Rima, additional

Published
2019
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24. Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

Author

Jansen, Anna C., primary, Belousova, Elena, additional, Benedik, Mirjana P., additional, Carter, Tom, additional, Cottin, Vincent, additional, Curatolo, Paolo, additional, Dahlin, Maria, additional, D'Amato, Lisa, additional, d'Augères, Guillaume Beaure, additional, de Vries, Petrus J., additional, Ferreira, José C., additional, Feucht, Martha, additional, Fladrowski, Carla, additional, Hertzberg, Christoph, additional, Jozwiak, Sergiusz, additional, Lawson, John A., additional, Macaya, Alfons, additional, Marques, Ruben, additional, Nabbout, Rima, additional, O'Callaghan, Finbar, additional, Qin, Jiong, additional, Sander, Valentin, additional, Sauter, Matthias, additional, Shah, Seema, additional, Takahashi, Yukitoshi, additional, Touraine, Renaud, additional, Youroukos, Sotiris, additional, Zonnenberg, Bernard, additional, and Kingswood, John C., additional

Published
2019
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25. Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness

Author

Kingswood, J Chris, primary, Belousova, Elena, additional, Benedik, Mirjana P, additional, Carter, Tom, additional, Cottin, Vincent, additional, Curatolo, Paolo, additional, Dahlin, Maria, additional, D’ Amato, Lisa, additional, d'Augères, Guillaume Beaure, additional, de Vries, Petrus J, additional, Ferreira, José C, additional, Feucht, Martha, additional, Fladrowski, Carla, additional, Hertzberg, Christoph, additional, Jozwiak, Sergiusz, additional, Lawson, John A, additional, Macaya, Alfons, additional, Marques, Ruben, additional, Nabbout, Rima, additional, O’Callaghan, Finbar, additional, Qin, Jiong, additional, Sander, Valentin, additional, Sauter, Matthias, additional, Shah, Seema, additional, Takahashi, Yukitoshi, additional, Touraine, Renaud, additional, Youroukos, Sotiris, additional, Zonnenberg, Bernard, additional, and Jansen, Anna C, additional

Published
2018
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27. Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype.

Author

Pons, Roser, Kekou, Kyriaki, Gkika, Artemis, Papadimas, George, Vogiatzakis, Nikolaos, Svingou, Maria, Papadopooulos, Constantinos, Nikas, Ioanis, Dinopoulos, Argirios, Youroukos, Sotiris, and Kanavakis, Emmanouel

Subjects
AMINO acids, CREATINE kinase, ELECTROMYOGRAPHY, MAGNETIC resonance imaging, MUSCLE proteins, MUSCLE diseases, GENETIC mutation, PHENOTYPES, RETROSPECTIVE studies, SKELETAL muscle
Abstract

Introduction: The dystrophinopathies include a spectrum of muscle diseases caused by mutations in the dystrophin (DMD) gene. The clinical phenotype ranges from severe Duchenne muscular dystrophy to a mild phenotype with elevated creatine kinase (CK).Methods: Clinical and molecular assessment of 7 patients carrying a single amino acid loss in the dystrophin protein (p.His1690del) caused by a c.5068_5070delCAC tri-nucleotide deletion in exon 36 of the DMD gene.Results: All patients were asymptomatic or oligosymptomatic and had elevated CK levels. Febrile illness, but not exercise, induced muscle symptoms in some patients. None had evidence of cardiomyopathy. Analysis of the short tandem repeat (STR)45 locus and sequencing of exon 36 of the DMD gene indicates that c.5068_5070delCAC is a founder mutation.Conclusions: The c.5068_5070delCAC locus in the DMD gene is associated with a very mild phenotype. Further study is needed to evaluate disease progression in these patients. Muscle Nerve 55: 46-50, 2017. [ABSTRACT FROM AUTHOR]

Published
2017
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34. Kanavakis et al. reply

Author

Kanavakis, Emmanuel, primary, Xaidara, Athina, additional, Papathanasiou-Klontza, Dimitra, additional, Papadimitriou, Alexandros, additional, Velentza, Stavroula, additional, and Youroukos, Sotiris, additional

Published
2004
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43. Diet during pregnancy and the risk of cerebral palsy

Author

Petridou, Eleni, primary, Koussouri, Mary, additional, Toupadaki, Nektaria, additional, Youroukos, Sotiris, additional, Papavassiliou, Antigoni, additional, Pantelakis, Stephanos, additional, Olsen, Jorn, additional, and Trichopoulos, Dimitrios, additional

Published
1998
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44. Risk Factors for Cerebral Palsy.

Author

Petridou, Eleni, Koussouri, Mary, Toupadaki, Nektaria, Papavassiliou, Antigoni, Youroukos, Sotiris, Katsarou, Effi, and Trichopoulos, Dimitrios

Abstract

The purpose of this study was to investigate the relation between a series of maternal, antenatal, perinatal, socioeconomic and environmental variables and the occurrence of cerebral palsy (CP) in a setting different from those in which previous analytic epidemiologic studies had been undertaken. The study was of case-control design and included 103 children with cerebral palsy born between 1984 and 1988 and residents of the Greater Athens area at any time during 1991 and 1992. Controls were chosen among the neighbors of the index case or were healthy siblings of children with neurological diseases other than CP seen by the same neurologists as the children with CP; a total of 254 control children were eventually included. Statistical analysis was done by modeling the data through unconditional logistic regression. Statistically significant (p,<0.05) risk factors of potential causal importance were: twin membership (OR=10.2), gestational age (OR = 0.5 per 4 weeks), birth weight conditional on gestational age (OR = 0.9 per 100 g), congenital malformations (OR=7.5), unhealthy placenta (OR = 6.6), placenta previa (6 cases, no controls), abnormal amniotic fluid (OR = 3.6), head circumference more than 36 cm (OR = 9.0), general anesthesia during labor (OR = 4.3), forceps delivery (OR = 6.8), and birth trauma (OR = 11.5). Among children with no identifiable prenatal risk factors there was no excess prevalence of one or more perinatal risk factors in CP cases compared to controls, which implies that the latter factors impart their effect through interactions with co-existing prenatal or other risk factors. [ABSTRACT FROM PUBLISHER]

Published
1996
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46. Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2mutation

Author

Swoboda, Kathryn J., Kanavakis, Emmanuel, Xaidara, Athina, Johnson, Justine E., Leppert, Mark F., Schlesinger‐Massart, Mylynda B., Ptacek, Louis J., Silver, Kenneth, and Youroukos, Sotiris

Abstract

Alternating hemiplegia of childhood (AHC) is typically distinguished from familial hemiplegic migraine (FHM) by infantile onset of the characteristic symptoms and high prevalence of associated neurological deficits that become increasingly obvious with age. Expansion of the clinical spectrum in FHM recently has begun to blur the distinction between these disorders. We report a novel ATP1A2mutation in a kindred with features that bridge the phenotypic spectrum between AHC and FHM syndromes, supporting a possible common pathogenesis in a subset of such cases. Mutation analysis in classic sporadic AHC patients and in an additional five kindreds in which linkage to the ATP1A2locus could not be excluded failed to identify additional mutations. Ann Neurol 2004;55:884–887

Published
2004
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47. Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel <TOGGLE>ATP1A2</TOGGLE> mutation

Author

Swoboda, Kathryn J., Kanavakis, Emmanuel, Xaidara, Athina, Johnson, Justine E., Leppert, Mark F., Schlesinger-Massart, Mylynda B., Ptacek, Louis J., Silver, Kenneth, and Youroukos, Sotiris

Abstract

Alternating hemiplegia of childhood (AHC) is typically distinguished from familial hemiplegic migraine (FHM) by infantile onset of the characteristic symptoms and high prevalence of associated neurological deficits that become increasingly obvious with age. Expansion of the clinical spectrum in FHM recently has begun to blur the distinction between these disorders. We report a novel ATP1A2 mutation in a kindred with features that bridge the phenotypic spectrum between AHC and FHM syndromes, supporting a possible common pathogenesis in a subset of such cases. Mutation analysis in classic sporadic AHC patients and in an additional five kindreds in which linkage to the ATP1A2 locus could not be excluded failed to identify additional mutations. Ann Neurol 2004;55:884–887

Published
2004
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48. Idiopathic Intracranial Hypertension in Children

Author

Youroukos, Sotiris, Psychou, Fotini, Fryssiras, Spyros, Paikos, Petros, and Nicolaidou, Polyxeni

Abstract

We studied prospectively the etiology, clinical presentation, and outcome of idiopathic intracranial hypertension in 36 patients (20 boys and 16 girls) aged 3.5 months to 14 years. The etiology was identified in 28 (77.7%) patients. The most common predisposing factor was middle-ear infection, followed by obesity. Of the 36 cases seen, 26 presented with the classic picture of headaches, papilledema, and elevated cerebrospinal fluid pressure; 8 children had intracranial hypertension in the absence of papilledema and 2 had fundoscopic evidence of papilledema with normal cerebrospinal fluid pressure initially. In four children resolution of intracranial hypertension occurred with removal of the causative agent or appropriate treatment of the underlying condition. In 8 of 17 patients intracranial hypertension resolved with acetazolamide therapy and in 22 of 24 patients it resolved with corticosteroids in combination with acetazolamide. Subnormal visual acuity, narrowing of visual fields, or both were present on the initial examination in 10 patients; 2 of them, who presented with loss of vision, have permanent visual impairment. Four additional patients presented a transient, mild impairment of visual acuity during treatment. Our study confirms the wide clinical spectrum and the difficulties encountered in diagnosis of idiopathic intracranial hypertension. A wide variety of etiologic associations should be investigated to provide definitive therapy. Loss of visual function is the only serious complication. (J Child Neurol2000;15:453-457).

Published
2000
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49. Acute psychosis associated with levetiracetam

Author

Youroukos, Sotiris, Lazopoulou, Despina, Michelakou, Danae, and Karagianni, Joanna

Abstract

A twelve year‐old‐girl with idiopathic partial epilepsy with secondary generalization, developed acute psychosis 10 days after the administration of levetiracetam. The patient was already on sodium valproate, and levetiracetam was given as add on therapy. A final dosage of 60 mg/kg was used. Complete seizure control was achieved but the patient developed hallucinations, agitation and self‐harming behaviour, as well as poor social contact. The psychotic behavior resolved completely soon after the discontinuation of levetiracetam.

Published
2003
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