| Title: |
Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex |
| Authors: |
Jansen, AC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; D'Amato, L; d'Augeres, GB; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Kingswood, JC; Shinohara, N; Horie, S; Kubota, M; Tohyama, J; Imai, K; Kaneda, M; Kaneko, H; Uchida, Y; Kirino, T; Endo, S; Inoue, Y; Uruno, K; Serdaroglu, A; Yapici, Z; Anlar, B; Altunbasak, S; Lvova, O; Belyaev, OV; Agranovich, O; Levitina, EV; Maksimova, YV; Karas, A; Jiang, Y; Zou, L; Xu, K; Zhang, Y; Luan, G; Wang, Y; Jin, M; Ye, D; Liao, W; Zhou, L; Liu, J; Liao, J; Yan, B; Deng, Y; Jiang, L; Liu, Z; Huang, S; Li, H; Kim, K; Chen, P-L; Lee, H-F; Tsai, J-D; Chi, C-S; Huang, C-C; Riney, K; Yates, D; Kwan, P; Likasitwattanakul, S; Nabangchang, C; Chomtho, LTK; Katanyuwong, K; Sriudomkajorn, S; Wilmshurst, J; Segel, R; Gilboa, T; Tzadok, M; Fattal-Valevski, A; Papathanasopoulos, P; Papavasiliou, AS; Giannakodimos, S; Gatz, S; Pavlou, E; Tzoufi, M; Vergeer, AMH; Dhooghe, M; Verhelst, H; Roelens, F; Nassogne, MC; Defresne, P; De Waele, L; Leroy, P; Demonceau, N; Legros, B; Van Bogaert, P; Ceulemans, B; Dom, L; Castelnau, P; Martin, ADS; Riquet, A; Milh, M; Cances, C; Pedespan, J-M; Ville, D; Roubertie, A; Auvin, S; Berquin, P; Richelme, C; Allaire, C; Gueden, S; Tich, SNT; Godet, B; Rojas, MLRF; Planas, JC; Bermejo, AM; Dura, PS; Aparicio, SR; Gonzalez, MJM; Pison, JL; Barca, MOB; Laso, EL; Luengo, OA; Rodriguez, FJA; Dieguez, IM; Salas, AC; Carrera, IM; Salcedo, EM; Petri, MEY; Candela, RC; Carrilho, IDC; Vieira, JP; Monteiro, JPDSO; Leao, MJSDOF; Luis, CSMR; Mendonca, CP; Endziniene, M; Strautmanis, J; Talvik, I; Canevini, MP; Gambardella, A; Pruna, D; Buono, S; Fontana, E; Dalla Bernardina, B; Burloiu, C; Cosma, ISB; Vintan, MA; Popescu, L; Zitterbart, K; Payerova, J; Bratsky, L; Zilinska, Z; Gruber-Sedlmayr, U; Baumann, M; Haberland, E; Rostasy, K; Pataraia, E; Elmslie, F; Johnston, CA; Crawford, P; Uldall, P; Uvebrant, P; Rask, O; Bjoernvold, M; Brodtkorb, E; Sloerdahl, A; Solhoff, R; Jaatun, MSG; Mandera, M; Radzikowska, EJ; Wysocki, M; Fischereder, M; Kurlemann, G; Wilken, B; Wiemer-Kruel, A; Budde, K; Marquard, K; Knuf, M; Hahn, A; Hartmann, H; Merkenschlager, A; Trollmann, R |
| Source: |
Frontiers in Neurology , 10 , Article 705. (2019) |
| Publisher Information: |
FRONTIERS MEDIA SA |
| Publication Year: |
2019 |
| Collection: |
University College London: UCL Discovery |
| Subject Terms: |
mTOR; registry; SEGA; TOSCA; tuberous sclerosis complex |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
text |
| Language: |
English |
| Relation: |
https://discovery.ucl.ac.uk/id/eprint/10078137/7/O%27Callaghan_Clinical%20Characteristics%20of%20Subependymal%20Giant%20Cell%20Astrocytoma%20in%20Tuberous%20Sclerosis%20Complex_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10078137/ |
| Availability: |
https://discovery.ucl.ac.uk/id/eprint/10078137/7/O%27Callaghan_Clinical%20Characteristics%20of%20Subependymal%20Giant%20Cell%20Astrocytoma%20in%20Tuberous%20Sclerosis%20Complex_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10078137/ |
| Rights: |
open |
| Accession Number: |
edsbas.9DC2EF03 |
| Database: |
BASE |