Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period / Anatoly KOROTKOV in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period Type de document : texte imprimé Auteurs : Anatoly KOROTKOV, Auteur ; Mark J. LUINENBURG, Auteur ; Alessia ROMAGNOLO, Auteur ; Till S. ZIMMER, Auteur ; Jackelien VAN SCHEPPINGEN, Auteur ; Anika BONGAARTS, Auteur ; Diede W.M. BROEKAART, Auteur ; Jasper J. ANINK, Auteur ; Caroline MIJNSBERGEN, Auteur ; Floor E. JANSEN, Auteur ; Wim VAN HECKE, Auteur ; Wim G. SPLIET, Auteur ; Peter C. VAN RIJEN, Auteur ; Martha FEUCHT, Auteur ; Johannes A. HAINFELLNER, Auteur ; Pavel KRSEK, Auteur ; Josef ZAMECNIK, Auteur ; Peter B. CRINO, Auteur ; Katarzyna KOTULSKA, Auteur ; Lieven LAGAE, Auteur ; Anna C. JANSEN, Auteur ; David J.. KWIATKOWSKI, Auteur ; Sergiusz JOZWIAK, Auteur ; Paolo CURATOLO, Auteur ; Angelika MÜHLEBNER, Auteur ; Erwin A. VAN VLIET, Auteur ; James D. MILLS, Auteur ; Eleonora ARONICA, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder/complications/metabolism  Brain/metabolism  Child  Child, Preschool  Contactins/genetics/metabolism  Down-Regulation  Humans  Infant  Infant, Newborn  Middle Aged  Tuberous Sclerosis/complications/metabolism  Young Adult  Cell adhesion  Cerebral cortex development  Epilepsy  Neurodevelopmental disorders  mTORopathies Index. décimale : PER Périodiques Résumé : BACKGROUND: The genetic disorder tuberous sclerosis complex (TSC) is frequently accompanied by the development of neuropsychiatric disorders, including autism spectrum disorder and intellectual disability, with varying degrees of impairment. These co-morbidities in TSC have been linked to the structural brain abnormalities, such as cortical tubers, and recurrent epileptic seizures (in 70-80% cases). Previous transcriptomic analysis of cortical tubers revealed dysregulation of genes involved in cell adhesion in the brain, which may be associated with the neurodevelopmental deficits in TSC. In this study we aimed to investigate the expression of one of these genes - cell-adhesion molecule contactin-3. METHODS: Reverse transcription quantitative polymerase chain reaction for the contactin-3 gene (CNTN3) was performed in resected cortical tubers from TSC patients with drug-resistant epilepsy (n = 35, age range: 1-48 years) and compared to autopsy-derived cortical control tissue (n = 27, age range: 0-44 years), as well as by western blot analysis of contactin-3 (n = 7 vs n = 7, age range: 0-3 years for both TSC and controls) and immunohistochemistry (n = 5 TSC vs n = 4 controls). The expression of contactin-3 was further analyzed in fetal and postnatal control tissue by western blotting and in-situ hybridization, as well as in the SH-SY5Y neuroblastoma cell line differentiation model in vitro. RESULTS: CNTN3 gene expression was lower in cortical tubers from patients across a wide range of ages (fold change = - 0.5, p < 0.001) as compared to controls. Contactin-3 protein expression was lower in the age range of 0-3 years old (fold change = - 3.8, p < 0.001) as compared to the age-matched controls. In control brain tissue, contactin-3 gene and protein expression could be detected during fetal development, peaked around birth and during infancy and declined in the adult brain. CNTN3 expression was induced in the differentiated SH-SY5Y neuroblastoma cells in vitro (fold change = 6.2, p < 0.01). CONCLUSIONS: Our data show a lower expression of contactin-3 in cortical tubers of TSC patients during early postnatal period as compared to controls, which may affect normal brain development and might contribute to neuropsychiatric co-morbidities observed in patients with TSC. En ligne : https://dx.doi.org/10.1186/s11689-022-09416-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period [texte imprimé] / Anatoly KOROTKOV, Auteur ; Mark J. LUINENBURG, Auteur ; Alessia ROMAGNOLO, Auteur ; Till S. ZIMMER, Auteur ; Jackelien VAN SCHEPPINGEN, Auteur ; Anika BONGAARTS, Auteur ; Diede W.M. BROEKAART, Auteur ; Jasper J. ANINK, Auteur ; Caroline MIJNSBERGEN, Auteur ; Floor E. JANSEN, Auteur ; Wim VAN HECKE, Auteur ; Wim G. SPLIET, Auteur ; Peter C. VAN RIJEN, Auteur ; Martha FEUCHT, Auteur ; Johannes A. HAINFELLNER, Auteur ; Pavel KRSEK, Auteur ; Josef ZAMECNIK, Auteur ; Peter B. CRINO, Auteur ; Katarzyna KOTULSKA, Auteur ; Lieven LAGAE, Auteur ; Anna C. JANSEN, Auteur ; David J.. KWIATKOWSKI, Auteur ; Sergiusz JOZWIAK, Auteur ; Paolo CURATOLO, Auteur ; Angelika MÜHLEBNER, Auteur ; Erwin A. VAN VLIET, Auteur ; James D. MILLS, Auteur ; Eleonora ARONICA, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder/complications/metabolism  Brain/metabolism  Child  Child, Preschool  Contactins/genetics/metabolism  Down-Regulation  Humans  Infant  Infant, Newborn  Middle Aged  Tuberous Sclerosis/complications/metabolism  Young Adult  Cell adhesion  Cerebral cortex development  Epilepsy  Neurodevelopmental disorders  mTORopathies Index. décimale : PER Périodiques Résumé : BACKGROUND: The genetic disorder tuberous sclerosis complex (TSC) is frequently accompanied by the development of neuropsychiatric disorders, including autism spectrum disorder and intellectual disability, with varying degrees of impairment. These co-morbidities in TSC have been linked to the structural brain abnormalities, such as cortical tubers, and recurrent epileptic seizures (in 70-80% cases). Previous transcriptomic analysis of cortical tubers revealed dysregulation of genes involved in cell adhesion in the brain, which may be associated with the neurodevelopmental deficits in TSC. In this study we aimed to investigate the expression of one of these genes - cell-adhesion molecule contactin-3. METHODS: Reverse transcription quantitative polymerase chain reaction for the contactin-3 gene (CNTN3) was performed in resected cortical tubers from TSC patients with drug-resistant epilepsy (n = 35, age range: 1-48 years) and compared to autopsy-derived cortical control tissue (n = 27, age range: 0-44 years), as well as by western blot analysis of contactin-3 (n = 7 vs n = 7, age range: 0-3 years for both TSC and controls) and immunohistochemistry (n = 5 TSC vs n = 4 controls). The expression of contactin-3 was further analyzed in fetal and postnatal control tissue by western blotting and in-situ hybridization, as well as in the SH-SY5Y neuroblastoma cell line differentiation model in vitro. RESULTS: CNTN3 gene expression was lower in cortical tubers from patients across a wide range of ages (fold change = - 0.5, p < 0.001) as compared to controls. Contactin-3 protein expression was lower in the age range of 0-3 years old (fold change = - 3.8, p < 0.001) as compared to the age-matched controls. In control brain tissue, contactin-3 gene and protein expression could be detected during fetal development, peaked around birth and during infancy and declined in the adult brain. CNTN3 expression was induced in the differentiated SH-SY5Y neuroblastoma cells in vitro (fold change = 6.2, p < 0.01). CONCLUSIONS: Our data show a lower expression of contactin-3 in cortical tubers of TSC patients during early postnatal period as compared to controls, which may affect normal brain development and might contribute to neuropsychiatric co-morbidities observed in patients with TSC. En ligne : https://dx.doi.org/10.1186/s11689-022-09416-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Recovery from Autism after Successful Surgery for a Benign Brain Tumor Associated with Epilepsy / Michal HRDLICKA in Journal of Autism and Developmental Disorders, 49-12 (December 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-12 (December 2019) . - p.5100-5104 Titre : Recovery from Autism after Successful Surgery for a Benign Brain Tumor Associated with Epilepsy Type de document : texte imprimé Auteurs : Michal HRDLICKA, Auteur ; Martin KUDR, Auteur ; Pavel KRSEK, Auteur ; M. TICHY, Auteur ; Martin KYNCL, Auteur ; Josef ZAMECNIK, Auteur ; Marketa MOHAPLOVA, Auteur ; Iva DUDOVA, Auteur Article en page(s) : p.5100-5104 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-019-03935-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=411 [article] Recovery from Autism after Successful Surgery for a Benign Brain Tumor Associated with Epilepsy [texte imprimé] / Michal HRDLICKA, Auteur ; Martin KUDR, Auteur ; Pavel KRSEK, Auteur ; M. TICHY, Auteur ; Martin KYNCL, Auteur ; Josef ZAMECNIK, Auteur ; Marketa MOHAPLOVA, Auteur ; Iva DUDOVA, Auteur . - p.5100-5104. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-12 (December 2019) . - p.5100-5104 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-019-03935-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=411

Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression / A. MUHLEBNER in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.9 Titre : Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression Type de document : texte imprimé Auteurs : A. MUHLEBNER, Auteur ; Anand IYER, Auteur ; Jackelien VAN SCHEPPINGEN, Auteur ; Jasper ANINK, Auteur ; Floor E. JANSEN, Auteur ; Tim J. VEERSEMA, Auteur ; Kees P. BRAUN, Auteur ; Wim G.M. SPLIET, Auteur ; Wim VAN HECKE, Auteur ; F. SOYLEMEZOGLU, Auteur ; Martha FEUCHT, Auteur ; Pavel KRSEK, Auteur ; Josef ZAMECNIK, Auteur ; Christian G. BIEN, Auteur ; Tilman POLSTER, Auteur ; Roland CORAS, Auteur ; I. BLUMCKE, Auteur ; Eleonora ARONICA, Auteur Article en page(s) : p.9 Langues : Anglais (eng) Mots-clés : Cortical layer markers  Epilepsy  Neuropathology  Neurosurgery  Tuberous sclerosis complex Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem disorder that results from mutations in the TSC1 or TSC2 genes, leading to constitutive activation of the mammalian target of rapamycin (mTOR) signaling pathway. Cortical tubers represent typical lesions of the central nervous system (CNS) in TSC. The pattern of cortical layering disruption observed in brain tissue of TSC patients is not yet fully understood, and little is known about the origin and phenotype of individual abnormal cell types recognized in tubers. METHODS: In the present study, we aimed to characterize dysmorphic neurons (DNs) and giant cells (GCs) of cortical tubers using neocortical layer-specific markers (NeuN, SMI32, Tbr1, Satb2, Cux2, ER81, and RORbeta) and to compare the features with the histo-morphologically similar focal cortical dysplasia (FCD) type IIb. We studied a cohort of nine surgically resected cortical tubers, five FCD type IIb, and four control samples using immunohistochemistry and in situ hybridization. RESULTS: Cortical tuber displayed a prominent cell loss in all cortical layers. Moreover, we observed altered proportions of layer-specific markers within the dysplastic region. DNs, in both tubers and FCD type IIb, were found positive for different cortical layer markers, regardless of their laminar location, and their immunophenotype resembles that of cortical projection neurons. CONCLUSIONS: These findings demonstrate that, similar to FCD type IIb, cortical layering is markedly disturbed in cortical tubers of TSC patients. Distribution of these disturbances is comparable in all tubers and suggests a dysmaturation affecting early and late migratory patterns, with a more severe impairment of the late stage of maturation. En ligne : http://dx.doi.org/10.1186/s11689-016-9142-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression [texte imprimé] / A. MUHLEBNER, Auteur ; Anand IYER, Auteur ; Jackelien VAN SCHEPPINGEN, Auteur ; Jasper ANINK, Auteur ; Floor E. JANSEN, Auteur ; Tim J. VEERSEMA, Auteur ; Kees P. BRAUN, Auteur ; Wim G.M. SPLIET, Auteur ; Wim VAN HECKE, Auteur ; F. SOYLEMEZOGLU, Auteur ; Martha FEUCHT, Auteur ; Pavel KRSEK, Auteur ; Josef ZAMECNIK, Auteur ; Christian G. BIEN, Auteur ; Tilman POLSTER, Auteur ; Roland CORAS, Auteur ; I. BLUMCKE, Auteur ; Eleonora ARONICA, Auteur . - p.9. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.9 Mots-clés : Cortical layer markers  Epilepsy  Neuropathology  Neurosurgery  Tuberous sclerosis complex Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem disorder that results from mutations in the TSC1 or TSC2 genes, leading to constitutive activation of the mammalian target of rapamycin (mTOR) signaling pathway. Cortical tubers represent typical lesions of the central nervous system (CNS) in TSC. The pattern of cortical layering disruption observed in brain tissue of TSC patients is not yet fully understood, and little is known about the origin and phenotype of individual abnormal cell types recognized in tubers. METHODS: In the present study, we aimed to characterize dysmorphic neurons (DNs) and giant cells (GCs) of cortical tubers using neocortical layer-specific markers (NeuN, SMI32, Tbr1, Satb2, Cux2, ER81, and RORbeta) and to compare the features with the histo-morphologically similar focal cortical dysplasia (FCD) type IIb. We studied a cohort of nine surgically resected cortical tubers, five FCD type IIb, and four control samples using immunohistochemistry and in situ hybridization. RESULTS: Cortical tuber displayed a prominent cell loss in all cortical layers. Moreover, we observed altered proportions of layer-specific markers within the dysplastic region. DNs, in both tubers and FCD type IIb, were found positive for different cortical layer markers, regardless of their laminar location, and their immunophenotype resembles that of cortical projection neurons. CONCLUSIONS: These findings demonstrate that, similar to FCD type IIb, cortical layering is markedly disturbed in cortical tubers of TSC patients. Distribution of these disturbances is comparable in all tubers and suggests a dysmaturation affecting early and late migratory patterns, with a more severe impairment of the late stage of maturation. En ligne : http://dx.doi.org/10.1186/s11689-016-9142-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Triple Trouble: A Case Report of an Unusual Combination of Duchenne Muscular Dystrophy, Epilepsy, and Autism / L. MRAZOVA in Autism - Open Access, 6-1 ([01/01/2016])  

Public ISBD [article]  inAutism - Open Access > 6-1 [01/01/2016] . - 3 p. Titre : Triple Trouble: A Case Report of an Unusual Combination of Duchenne Muscular Dystrophy, Epilepsy, and Autism Type de document : texte imprimé Auteurs : L. MRAZOVA, Auteur ; P. VONDRACEK, Auteur ; P. DANHOFER, Auteur ; J. PEJCOCHOVA, Auteur ; Z. JURIKOVA, Auteur ; T. HONZIK, Auteur ; Josef ZAMECNIK, Auteur ; H. OSLEJSKOVA, Auteur Article en page(s) : 3 p. Langues : Anglais (eng) Mots-clés : Duchene muscular dystrophy  DMD  Dystrophin  Dystrophinopathy  Neuromuscular disorders  Epilepsy  Autism  Autism spectrum disorder Index. décimale : PER Périodiques Résumé : We present a 4 year-old boy with an unusual combination of an inherited neuromuscular disorder-Duchenne muscular dystrophy, epilepsy and autism. The patient underwent an extensive clinical, biochemistry, molecular genetics, electrophysiological, and psychological examinations. We discuss a role of dystrophin expression and deficiency in both muscle and brain tissues in the pathophysiology of these disorders. An association between Duchenne muscular dystrophy and autism spectrum disorders has already been described, but this unusual phenotype, including DMD, epilepsy, and autism, has not been reported as yet. We postulate that this “triple trouble” is not a coincidence, but more likely a result of the same underlying process–the dystrophin deficiency. En ligne : https://dx.doi.org/10.4172/2165-7890.1000162 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410 [article] Triple Trouble: A Case Report of an Unusual Combination of Duchenne Muscular Dystrophy, Epilepsy, and Autism [texte imprimé] / L. MRAZOVA, Auteur ; P. VONDRACEK, Auteur ; P. DANHOFER, Auteur ; J. PEJCOCHOVA, Auteur ; Z. JURIKOVA, Auteur ; T. HONZIK, Auteur ; Josef ZAMECNIK, Auteur ; H. OSLEJSKOVA, Auteur . - 3 p. Langues : Anglais (eng) in Autism - Open Access > 6-1 [01/01/2016] . - 3 p. Mots-clés : Duchene muscular dystrophy  DMD  Dystrophin  Dystrophinopathy  Neuromuscular disorders  Epilepsy  Autism  Autism spectrum disorder Index. décimale : PER Périodiques Résumé : We present a 4 year-old boy with an unusual combination of an inherited neuromuscular disorder-Duchenne muscular dystrophy, epilepsy and autism. The patient underwent an extensive clinical, biochemistry, molecular genetics, electrophysiological, and psychological examinations. We discuss a role of dystrophin expression and deficiency in both muscle and brain tissues in the pathophysiology of these disorders. An association between Duchenne muscular dystrophy and autism spectrum disorders has already been described, but this unusual phenotype, including DMD, epilepsy, and autism, has not been reported as yet. We postulate that this “triple trouble” is not a coincidence, but more likely a result of the same underlying process–the dystrophin deficiency. En ligne : https://dx.doi.org/10.4172/2165-7890.1000162 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410

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