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Tsc and interneurons

Cary Fu, Bryan Cawthon, William Clinkscales, Adrienne Bruce, Peggy Winzenburger, Kevin C Ess
Tuberous sclerosis complex (TSC) is a genetic disease with severe neurologic and psychiatric manifestations including epilepsy, developmental delay, and autism. Despite much progress in defining abnormal signaling pathways including the contribution of increased mTORC1 signaling, specific abnormalities that underlie the severe neurologic features in TSC remain poorly understood. We hypothesized that epilepsy and autism in TSC result from abnormalities of γ-aminobutyric acidergic (GABAergic) interneurons. To test this hypothesis, we generated conditional knockout mice with selective deletion of the Tsc1 gene in GABAergic interneuron progenitor cells...
September 2012: Cerebral Cortex
Carlos Cepeda, Véronique M André, Jason S Hauptman, Irene Yamazaki, My N Huynh, Julia W Chang, Jane Y Chen, Robin S Fisher, Harry V Vinters, Michael S Levine, Gary W Mathern
Tuberous Sclerosis Complex (TSC) and cortical dysplasia Type IIB (CDIIB) share histopathologic features that suggest similar epileptogenic mechanisms. This study compared the morphological and electrophysiological properties of cortical cells in tissue from pediatric TSC (n=20) and CDIIB (n=20) patients using whole-cell patch clamp recordings and biocytin staining. Cell types were normal-appearing and dysmorphic-cytomegalic pyramidal neurons, interneurons, and giant/balloon cells, including intermediate neuronal-glial cells...
January 2012: Neurobiology of Disease
Amy Brooks-Kayal
Intellectual and developmental disabilities (IDDs) such as autistic spectrum disorders (ASDs) and epilepsies are heterogeneous disorders that have diverse etiologies and pathophysiologies. The high rate of co-occurrence of these disorders, however, suggests potentially shared underlying mechanisms. A number of well-known genetic disorders share epilepsy, intellectual disability, and autism as prominent phenotypic features, including tuberous sclerosis complex, Rett syndrome, and fragile X syndrome. In addition, mutations of several genes involved in neurodevelopment, including ARX, DCX, neuroligins, and neuropilin 2 have been identified in children with epilepsy, IDDs, ASDs, or a combination of thereof...
January 2011: Epilepsia
Romina Moavero, Caterina Cerminara, Paolo Curatolo
BACKGROUND: In tuberous sclerosis complex (TSC), a substantially increased risk of developing epilepsy is present as a result of a disruption of a TSC gene expression in the brain and secondary abnormal cellular differentiation, migration, and proliferation. Dysregulated excitation probably has its roots in the disruption of GABAergic interneuron development. There is an age-dependent electroclinical expression of seizures, and epilepsy is often quite severe and unremitting. DISCUSSION: The majority of patients (>60%) who are candidates for surgery remain seizure-free after tuberectomy...
November 2010: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
A Benvenuto, B Manzi, R Alessandrelli, C Galasso, P Curatolo
Background. Current advances in genetic technology continue to expand the list of medical conditions associated with autism. Clinicians have to identify specific autistic-related syndromes, and to provide tailored counseling. The aim of this study is to elucidate recent advances in autism research that offer important clues into pathogenetic mechanisms of syndromic autism and relevant implications for clinical practice. Data Sources. The PubMed database was searched with the keywords "autism" and "chromosomal abnormalities," "metabolic diseases," "susceptibility loci...
2009: International Journal of Pediatrics
Arianna Benvenuto, Romina Moavero, Riccardo Alessandrelli, Barbara Manzi, Paolo Curatolo
BACKGROUND: Autism is a severe neurodevelopmental disorder known to have many different etiologies. In the last few years, significant progresses have been made in comprehending the causes of autism and their multiple impacts on the developing brain. This article aims to review the current understanding of the etiologies and the multiple pathogenetic pathways that are likely to lead to the autistic phenotype. DATA SOURCES: The PubMed database was searched with the keywords "autism" and "chromosomal abnormalities", "metabolic diseases", "susceptibility loci"...
August 2009: World Journal of Pediatrics: WJP
Ignacio Valencia, Agustin Legido, Karina Yelin, Divya Khurana, Sanjeev V Kothare, Christos D Katsetos
Damage or loss of inhibitory cortical gamma-aminobutyric acid (GABA)ergic interneurons is associated with impaired inhibitory control of neocortical pyramidal cells, leading to hyperexcitability and epileptogenesis. The calcium binding proteins parvalbumin and calbindin-D(28k) are expressed in subpopulations of GABAergic local circuit neurons in the neocortex and can serve as neuronotypic markers. Parvalbumin and calbindin-D(28k) facilitate the neuron's ability to sustain firing and provide neuroprotection...
December 2006: Journal of Child Neurology
P Polc, W Haefely
The effects of diazepam, flunitrazepam, phenobarbitone and baclofen on excitatory as well as on pre- and postsynaptic inhibitory processes in the cuneate nucleus were studied in decerebrate cats. Afferent presynaptic inhibition in the cuneate nucleus, evoked by volleys in the median nerve, and assessed by the size of the positive cuneate surface potential (P wave), the dorsal column reflex (DCR), and the increased excitability of primary afferent terminals of the ulnar nerve, was markedly enhanced by diazepam (0...
August 1976: Naunyn-Schmiedeberg's Archives of Pharmacology
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