Cytoarchitectural alterations are widespread in cerebral cortex in tuberous sclerosis complex

Acta Neuropathologica
Leah MarcottePeter B Crino

Abstract

Tubers are cerebral cortical developmental malformations associated with epilepsy and autism in tuberous sclerosis complex (TSC). The disparity between tuber number and severity of neurological impairment often observed in TSC led us to hypothesize that microscopic structural abnormalities distinct from tubers may occur in TSC. Serial frontal to occipital lobe sections were prepared from five postmortem TSC brain specimens. Sections were probed with cresyl violet stain or NeuN antibodies to define cytoarchitectural abnormalities and phospho-S6 (Ser235/236) antibodies to define mammalian target of rapamycin complex 1 (mTORC1) pathway activation. Tubers identified in all specimens (mean, 5 tubers per brain specimen) were defined by abnormal cortical lamination, dysmorphic neurons, and giant cells (GCs) and exhibited robust phospho-S6 immunolabeling. Histopathological analysis of non-tuber cortices demonstrated that 32% of the sections exhibited microscopic cytoarchitectural alterations, whereas 68% of the sections did not. Four types of morphological abnormalities were defined including: (1) focal dyslamination, (2) heterotopic neurons, (3) small collections of giant cells (GCs) and neurons we termed "microtubers", (4) isolated G...Continue Reading

References

Jun 1, 1989·Acta Pathologica Japonica·A NaramotoH Shigematsu
Nov 10, 2001·Brain & Development·M Mizuguchi, S Takashima
Sep 30, 2004·Annals of Neurology·Hajime MiyataHarry V Vinters
Sep 30, 2004·Annals of Neurology·Marianna BaybisPeter B Crino
Dec 31, 2004·Journal of Neuropathology and Experimental Neurology·Jennifer A ChanDavid J Kwiatkowski
Jan 19, 2006·Journal of Child Neurology·Colin DohertyElizabeth A Thiele
Mar 29, 2006·Journal of Child Neurology·Virginia Wong, Pek-Lan Khong
Apr 11, 2006·Cerebral Cortex·K RidlerE T Bullmore
Jul 18, 2006·Journal of Autism and Developmental Disorders·Charles G EberhartTy W Abel
Aug 29, 2006·Seizure : the Journal of the British Epilepsy Association·Charles M ZaroffOrrin Devinsky
Sep 29, 2006·The New England Journal of Medicine·Peter B CrinoElizabeth Petri Henske
Mar 6, 2007·Psychological Medicine·Armin RaznahanPatrick F Bolton
Sep 18, 2007·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·I-Jun ChouMing-Yu Chang
Apr 16, 2008·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Karin BoerEleonora Aronica
Sep 2, 2008·Neurosurgical Focus·Robert J BolloHoward L Weiner
Jan 8, 2009·Epilepsia·Philippe MajorElizabeth A Thiele
Aug 22, 2009·Journal of Intellectual Disability Research : JIDR·D EhningerA J Silva
Mar 31, 2010·Journal of Neurology·Anne GallagherElizabeth A Thiele

❮ Previous
Next ❯

Citations

Feb 7, 2013·Acta Neuropathologica·Peter B Crino
Sep 25, 2012·Journal of Neurosurgery. Pediatrics·Tracy S MaChad Carlson
Oct 20, 2012·Cerebral Cortex·Victoria TsaiPeter B Crino
Dec 21, 2013·Trends in Neurosciences·Nicola MarchiDamir Janigro
Feb 1, 2014·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Eleonora Aronica, Peter B Crino
Jan 7, 2014·Journal of Autism and Developmental Disorders·Lynn Waterhouse, Christopher Gillberg
Mar 30, 2013·Annual Review of Clinical Psychology·Nina de Lacy, Bryan H King
Jan 14, 2016·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Paolo CuratoloSergiusz Jozwiak
Jul 19, 2012·Brain Pathology·Avanita S PrabowoEleonora Aronica
May 31, 2013·Annals of Neurology·Elisabeth AbsYpe Elgersma
Apr 9, 2015·Acta Neuropathologica Communications·Alexander A SosunovGuy M McKhann
Mar 26, 2013·Epilepsy & Behavior : E&B·William E WuOded Gonen
Apr 26, 2015·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Leonardo Emberti GialloretiPaolo Curatolo
Jun 11, 2016·NeuroImage·Enrico KadenDaniel C Alexander
Oct 4, 2017·Human Molecular Genetics·Laura C ArmstrongKevin C Ess
Sep 20, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Derek S LuHoward L Weiner
Sep 17, 2019·Reviews in the Neurosciences·Roger D TraubStephen P Hall
Jan 18, 2018·Expert Review of Neurotherapeutics·Paolo CuratoloEleonora Aronica
Nov 24, 2018·Frontiers in Molecular Neuroscience·Rebecca L CoxAkira Yoshii
Jun 11, 2020·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Camilla RussoGiuseppe Cinalli
Aug 9, 2020·Frontiers in Neuroanatomy·David M Feliciano
Dec 12, 2017·Autism Research : Official Journal of the International Society for Autism Research·Audrey ThurmLonnie Zwaigenbaum
Jul 30, 2019·Annals of Clinical and Translational Neurology·Jurriaan M PetersSimon K Warfield
Dec 17, 2019·Journal of Neurodevelopmental Disorders·Anna K ProhlUNKNOWN TACERN Study Group
Dec 7, 2018·Future Neurology·Jennifer L Griffith, Michael Wong
Nov 15, 2018·Pediatric Neurology·Jurriaan M PetersDarcy A Krueger
Feb 21, 2019·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Elodie DespouyEmmanuel J Barbeau

❮ Previous
Next ❯

Related Concepts

Related Feeds

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research on autism.