Recovery from Autism after Successful Surgery for a Benign Brain Tumor Associated with Epilepsy / M. 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 et/ou numérique Auteurs : M. HRDLICKA, Auteur ; M. KUDR, Auteur ; P. KRSEK, Auteur ; M. TICHY, Auteur ; M. KYNCL, Auteur ; J. ZAMECNIK, Auteur ; M. MOHAPLOVA, Auteur ; I. 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 et/ou numérique] / M. HRDLICKA, Auteur ; M. KUDR, Auteur ; P. KRSEK, Auteur ; M. TICHY, Auteur ; M. KYNCL, Auteur ; J. ZAMECNIK, Auteur ; M. MOHAPLOVA, Auteur ; I. 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 et/ou numérique Auteurs : A. MUHLEBNER, Auteur ; A. M. IYER, Auteur ; J. VAN SCHEPPINGEN, Auteur ; J. ANINK, Auteur ; F. E. JANSEN, Auteur ; T. J. VEERSEMA, Auteur ; K. P. BRAUN, Auteur ; W. G. SPLIET, Auteur ; W. VAN HECKE, Auteur ; F. SOYLEMEZOGLU, Auteur ; M. FEUCHT, Auteur ; P. KRSEK, Auteur ; J. ZAMECNIK, Auteur ; C. G. BIEN, Auteur ; T. POLSTER, Auteur ; R. CORAS, Auteur ; I. BLUMCKE, Auteur ; E. 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 et/ou numérique] / A. MUHLEBNER, Auteur ; A. M. IYER, Auteur ; J. VAN SCHEPPINGEN, Auteur ; J. ANINK, Auteur ; F. E. JANSEN, Auteur ; T. J. VEERSEMA, Auteur ; K. P. BRAUN, Auteur ; W. G. SPLIET, Auteur ; W. VAN HECKE, Auteur ; F. SOYLEMEZOGLU, Auteur ; M. FEUCHT, Auteur ; P. KRSEK, Auteur ; J. ZAMECNIK, Auteur ; C. G. BIEN, Auteur ; T. POLSTER, Auteur ; R. CORAS, Auteur ; I. BLUMCKE, Auteur ; E. 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 et/ou numérique Auteurs : L. MRAZOVA, Auteur ; P. VONDRACEK, Auteur ; P. DANHOFER, Auteur ; J. PEJCOCHOVA, Auteur ; Z. JURIKOVA, Auteur ; T. HONZIK, Auteur ; J. 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 et/ou numérique] / L. MRAZOVA, Auteur ; P. VONDRACEK, Auteur ; P. DANHOFER, Auteur ; J. PEJCOCHOVA, Auteur ; Z. JURIKOVA, Auteur ; T. HONZIK, Auteur ; J. 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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