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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorJansen, Anna C.
dc.contributor.authorBelousova, Elena
dc.contributor.authorPerkovic Benedik, Mirjana
dc.contributor.authorCarter, Tom
dc.contributor.authorCottin, Vincent
dc.contributor.authorCuratolo, Paolo
dc.contributor.authorMacaya Ruíz, Alfons
dc.date.accessioned2020-02-06T09:28:30Z
dc.date.available2020-02-06T09:28:30Z
dc.date.issued2019-07-03
dc.identifier.citationJansen AC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, et al. Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex. Front Neurol. 2019 Jul 3;10:705.
dc.identifier.issn1664-2295
dc.identifier.urihttp://hdl.handle.net/11351/4592
dc.descriptionSEGA; TOSCA; Tuberous sclerosis complex
dc.description.abstractBackground: 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, <1-51), with 18.1% diagnosed after age 18 years. SEGA growth occurred in 22.7% of patients aged ≤ 18 years and in 11.6% of patients aged > 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.
dc.language.isoeng
dc.publisherFrontiers Media
dc.relation.ispartofseriesFrontiers in Neurology;10
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.sourceScientia
dc.subjectEsclerosi tuberosa
dc.subjectAstrocitomes
dc.subjectQuinases
dc.subject.meshAstrocytoma
dc.subject.meshTuberous Sclerosis
dc.subject.meshTOR Serine-Threonine Kinases
dc.titleClinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.3389/fneur.2019.00705
dc.subject.decsastrocitoma
dc.subject.decsesclerosis tuberosa
dc.subject.decsTOR serina-treonina cinasas
dc.relation.publishversionhttps://www.frontiersin.org/articles/10.3389/fneur.2019.00705/full
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.authoraffiliation[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.
dc.identifier.pmid31333563
dc.identifier.wos000473679200001
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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