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Cortical dysplasia

Jörg Wellmer
Small bottom-of-sulcus focal cortical dysplasias (BOS-FCD) type IIb are intrinsically epileptogenic lesions often responsible for pharmacoresistant epilepsy. They are increasingly well demarcated in vivo from surrounding cortex and white matter by 3 T magnetic resonance imaging (MRI). These facts and frequent seizure freedom after just narrow resections allow questioning the classical concept of epilepsy surgery in which the epileptogenic lesion is generally considered only one part of the epileptogenic zone and the resection volume categorically has to exceed lesion limits...
February 19, 2018: Epilepsy Research
Bo Jin, Wenhan Hu, Linmei Ye, Balu Krishnan, Thandar Aung, Stephen E Jones, Imad M Najm, Andreas V Alexopoulos, Kai Zhang, Junming Zhu, Jianguo Zhang, Meiping Ding, Zhong Chen, Shuang Wang, Zhong Irene Wang
Objective: To investigate the neuroimaging and clinical features associated with sleep-related epilepsy (SRE) in patients with focal cortical dysplasia (FCD) type II. Methods: Patients with histopathologically proven FCD type II were included from three epilepsy centers. SRE was defined according to the video EEG findings and seizure history. Cortical surface reconstruction and volume calculation were performed using FreeSurfer. The lesions were manually delineated on T1 volumetric MRI using the ITK-SNAP software...
2018: Frontiers in Neurology
Geetha Anand, Grace Vasallo, Maria Spanou, Saumya Thomas, Michael Pike, Didu Sanduni Kariyawasam, Sanjay Mehta, Allyson Parry, Juliette Durie-Gair, James Nicholson, Karine Lascelles, Vanessa Everett, Frances Mary Gibbon, Nicola Jarvis, John Elston, Dafydd Gareth Evans, Dorothy Halliday
OBJECTIVE: Onset of symptoms in severe sporadic neurofibromatosis type 2 (NF2) is typically within childhood; however, there is poor awareness of presenting features in young children, potentially resulting in delayed diagnosis and poorer outcome. We have reviewed presentation of sporadic paediatric NF2 to raise awareness of early features, highlighting those requiring further investigation. DESIGN: Patients diagnosed with NF2 at age ≤16 and seen between 2012 and 2015 were notified via the British Paediatric Neurology Surveillance Unit or identified through the English NF2 service...
March 13, 2018: Archives of Disease in Childhood
Karl Roessler, Burkhard S Kasper, Roland Coras, Soheil Arinrad, Michael Scholz, Hajo H Hamer, Ingmar Blümcke, Michael Buchfelder
BACKGROUND: Temporal lobe resection (TLR) including amygdalo-hippocampectomy (AHE) is the most frequent performed procedure in epilepsy surgery. Due to close anatomical relationship of the mesial temporal structures and the midbrain and choroidal fissure, the risk of severe complications like postoperative stroke is up to 2.5%. METHODS: We developed a modification of the classical technique for AHE by early entering the choroidal fissure for identification of crus cerebri, posterior cerebri artery and oculomotor nerve via the anterior part of the fronto- mesial temporal horn cleft...
March 7, 2018: World Neurosurgery
C Cuello-Oderiz, N von Ellenrieder, R Sankhe, A Olivier, J Hall, F Dubeau, J Gotman
OBJECTIVES: There are different neurophysiological markers of the Epileptogenic Zone (EZ), but their sensitivity and specificity for the EZ is not known in Focal Cortical Dysplasia (FCD) patients. METHODS: We studied patients with FCD who underwent stereoelectroencephalography (SEEG) and surgery. We marked in the SEEG: (a) typical and atypical interictal epileptiform patterns, (b) ictal onset patterns, and (c) rates of ripples (80-250 Hz) and fast ripples (FRs) (>250 Hz)...
February 22, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Giovanni Tringali, Beatrice Bono, Ivano Dones, Roberto Cordella, Giuseppe Didato, Flavio Villani, Francesco Prada
BACKGROUND: Type II focal cortical dysplasia is the most common malformation of cortical development associated with drug resistant epilepsy and susceptible to surgical resection. Although advanced imaging modalities are nowadays capable to detect the majority of such cortical disorders, it is still a challenge for the surgeon to visualize them intraoperatively. The lack of direct boundaries' identification between normal brain and subtle dysplastic tissue may explain poor results in terms of seizure-free patients compared to other forms of epilepsy...
March 3, 2018: World Neurosurgery
Haruo Okado
The mechanisms regulating the formation of the cerebral cortex have been well studied. In the developing cortex, Rp58 (also known Znf238, Znp238, and Zbtb18), which encodes a sequence-specific transcriptional repressor, is expressed in glutamatergic projection neurons and progenitor cells. Targeted deletion of Rp58 leads to dysplasia of the neocortex and hippocampus, a reduction in the number of mature cortical neurons, and defects in laminar organization due to abnormal neuronal migration within the cortical plate...
March 1, 2018: Brain Research
Dan Xu, Andrew P Robinson, Toshiyuki Ishii, D'Anne S Duncan, Tord D Alden, Gwendolyn E Goings, Igal Ifergan, Joseph R Podojil, Pablo Penaloza-MacMaster, Jennifer A Kearney, Geoffrey T Swanson, Stephen D Miller, Sookyong Koh
The pathophysiology of drug-resistant pediatric epilepsy is unknown. Flow cytometric analysis of inflammatory leukocytes in resected brain tissues from 29 pediatric patients with genetic (focal cortical dysplasia) or acquired (encephalomalacia) epilepsy demonstrated significant brain infiltration of blood-borne inflammatory myeloid cells and memory CD4+ and CD8+ T cells. Significantly, proinflammatory (IL-17- and GM-CSF-producing) γδ T cells were concentrated in epileptogenic lesions, and their numbers positively correlated with disease severity...
February 27, 2018: Journal of Experimental Medicine
Daniel San-Juan, Carlos Ignacio Sarmiento, Katia Márquez González, José Manuel Orenday Barraza
Transcranial direct current stimulation (tDCS) is a reemerged noninvasive cerebral therapy used to treat patients with epilepsy, including focal cortical dysplasia, with controversial results. We present a case of a 28-year-old female with left frontal cortical dysplasia refractory to antiepileptic drugs, characterized by 10-15 daily right tonic hemi-body seizures. The patient received a total of seven sessions of cathodal tDCS (2 mA, 30 min). The first three sessions were applied over three consecutive days, and the remaining four sessions of tDCS were given each at 2-week intervals...
2018: Frontiers in Neurology
Lena H Nguyen, Anne E Anderson
Cortical dysplasia (CD) is a common cause for intractable epilepsy. Hyperactivation of the mechanistic target of rapamycin (mTOR) pathway has been implicated in CD; however, the mechanisms by which mTOR hyperactivation contribute to the epilepsy phenotype remain elusive. Here, we investigated whether constitutive mTOR hyperactivation in the hippocampus is associated with altered voltage-gated ion channel expression in the neuronal subset-specific Pten knockout (NS-Pten KO) mouse model of CD with epilepsy. We found that the protein levels of Kv1...
February 23, 2018: Scientific Reports
Zong-Wei Yue, Ye-Lan Wang, Bo Xiao, Li Feng
Cortical dysplasia is the most common etiology of intractable epilepsy. Both excitability changes in cortical neurons and neural network reconstitution play a role in cortical dysplasia epileptogenesis. Recent research shows that the axon initial segment, a subcompartment of the neuron important to the shaping of action potentials, adjusts its position in response to changes in input, which contributes to neuronal excitability and local circuit balance. It is unknown whether axon initial segment plasticity occurs in neurons involved in seizure susceptibility in cortical dysplasia...
February 21, 2018: Neurochemical Research
Luis Arboleya, Rubén Queiro, Mercedes Alperi, José Andrés Lorenzo, Javier Ballina
Pyle's disease (OMIN number 265900) is a metaphyseal dysplasia of benign course, inherited with an autosomal recessive pattern. Some 30 genuine cases have been described so far. The cause of this process has been known since 2016, when its relationship to mutations in the gene encoding the sFRP protein, a known inhibitor of the Wnt pathway, was discovered. We report the case of a 58-year-old man, diagnosed with Pyle's disease based on his clinical and radiographic characteristics, whose phenotype suggested a differential control of cortical and trabecular bone homeostasis...
February 17, 2018: Reumatología Clinica
Simoni H Avansini, Fábio R Torres, André S Vieira, Danyella B Dogini, Fabio Rogerio, Ana C Coan, Marcia E Morita, Marilisa M Guerreiro, Clarissa L Yasuda, Rodrigo Secolin, Benilton S Carvalho, Murilo G Borges, Vanessa S Almeida, Patrícia A O R Araújo, Luciano Queiroz, Fernando Cendes, Iscia Lopes-Cendes
OBJECTIVE: Focal cortical dysplasias (FCDs) are an important cause of drug-resistant epilepsy. In this work we aimed to investigate whether abnormal gene regulation, mediated by microRNA, could be involved in FCD type II. METHODS: We used total RNA from the brain tissue of 16 patients with FCD type II and 28 controls. MicroRNA expression was initially assessed by microarray. Quantitative PCR (qPCR), in situ hybridization, luciferase reporter assays and deep sequencing for genes in the mTOR pathway were performed to validate and further explore our initial study...
February 20, 2018: Annals of Neurology
Ahmed Abdel Khalek Abdel Razek
The aim of this work is to review the MR imaging of neoplastic and non-neoplastic lesions of the brain and spine in neurofibromatosis type I. Neoplastic lesions are optic pathway gliomas, brain stem gliomas, other gliomas of the brain, and peripheral nerve sheath tumors. Structural changes in the brain include unidentified bright objects, macrocephaly, and enlarged corpus callosum. Bony dysplasia changes as sphenoid ridge dysplasia, spinal scalloping, dural ectasia, and meningoceles. Vasculopathy and cortical cerebral and cerebellar malformations of the brain have been reported...
February 17, 2018: Neurological Sciences
Sarah A Kelley, Shenandoah Robinson, Nathan E Crone, Bruno P Soares
INTRODUCTION: Bottom-of-sulcus focal cortical dysplasias are an under recognized, surgically treatable cause of focal epilepsy. Resection can dramatically reduce the seizure burden for children with refractory epilepsy, or eliminate seizures altogether. MATERIAL AND METHODS: We report the case and present the results of multimodality evaluation of a 15-year-old young man who presented with long-standing partial epilepsy affecting his right leg, which over the years became refractory to therapy...
February 14, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Jie Zhang, Zhongbin Zhang, Yao Zhang, Ye Wu
Pontocerebellar hypoplasia type 6 (PCH6) is a rare autosomal recessive disease that occurs due to mutations in the mitochondrial arginyl-tRNA synthetase 2 (RARS2) gene. To the best of our knowledge, 23 cases with relatively complete clinical data have been reported thus far. In the present study, a case with PCH6 caused by novel RARS2 mutations is described, in which distinct magnetic resonance imaging (MRI) features were identified. In addition, 23 PCH6 cases found in the literature were reviewed. Early onset hypotonia (43...
January 2018: Experimental and Therapeutic Medicine
Takashi Harada, Takashi Uegaki, Kazuya Arata, Takako Tsunetou, Fuminori Taniguchi, Tasuku Harada
Schizencephaly and porencephaly are extremely rare types of cortical dysplasia. Case 1: Prenatal magnetic resonance imaging (MRI) showed wide clefts in the frontal and parietal lobes bilaterally. On postnatal day 3, MRI T2-weighted images showed multiple hypointensities in the clefts and ventricular walls, suggestive of hemosiderosis secondary to intracranial hemorrhage. Case 2: Prenatal MRI showed bilateral cleft and cyst formation in the fetal cerebrum, as well as calcification and hemosiderosis indicative of past hemorrhage...
December 2017: Yonago Acta Medica
Wendy Klement, Rita Garbelli, Emma Zub, Laura Rossini, Laura Tassi, Benoit Girard, Marine Blaquiere, Federica Bertaso, Julie Perroy, Frederic de Bock, Nicola Marchi
BACKGROUND: Cerebrovascular dysfunction and inflammation occur in experimental and clinical epilepsy. Here we asked whether pericytes, a pivotal cellular component of brain capillaries, undergo pathological modifications during experimental epileptogenesis and in human epilepsy. We evaluated whether pro-inflammatory cytokines, present in the brain during seizures, contribute to pericyte morphological modifications. METHODS: In vivo, unilateral intra-hippocampal kainic acid (KA) injections were performed in NG2DsRed/C57BL6 mice to induce status epilepticus (SE), epileptogenesis, and spontaneous recurrent seizures (SRS)...
February 9, 2018: Neurobiology of Disease
Mark A MacLean, Alexander S Easton, Gwynedd E Pickett
No abstract text is available yet for this article.
February 12, 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
Caroline Le Duigou, Etienne Savary, Mélanie Morin-Brureau, Daniel Gomez-Dominguez, André Sobczyk, Farah Chali, Giampaolo Milior, Larissa Kraus, Jochen C Meier, Dimitri M Kullmann, Bertrand Mathon, Liset Menendez de la Prida, Georg Dorfmuller, Johan Pallud, Emmanuel Eugène, Stéphane Clemenceau, Richard Miles
BACKGROUND: Insights into human brain diseases may emerge from tissue obtained after operations on patients. However techniques requiring transduction of transgenes carried by viral vectors cannot be applied to acute human tissue. NEW METHOD: We show that organotypic culture techniques can be used to maintain tissue from patients with three different neurological syndromes for several weeks in vitro. Optimized viral vector techniques and promoters for transgene expression are described...
February 7, 2018: Journal of Neuroscience Methods
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