Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017638 (glioma)
 30,880 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Polyamine (tissue) concentrations have been studied in hippocampus and temporal neocortex from patients with temporal lobe epilepsy. Depth electrode recordings demonstrated hippocampal origin of the seizures, the temporal neocortex being involved during the discharge propagation. Neuropathological examination of excised tissues showed glial proliferation or glioma in Ammon's horn (CA), whereas the temporal neocortex did not exhibit any histological abnormality. Polyamine (putrescine or PUT, spermidine or SPD, spermine or SPM) concentrations were determined on surgical samples from the hippocampus and various areas of temporal neocortex. Human post-mortem tissue from temporal lobe regions was used for controls. In post-mortem controls and temporal neocortex specimens from epileptic patients, polyamine levels were similar (in nmol/g wet weight: PUT = 40-100; SPD = 200-350; SPM = 100-200). In CA, polyamine levels exhibited striking changes: SPD content was significantly increased (350-700 nmol/g) while SPM was lowered (50-100). PUT was only increased in CA invaded by the tumoral process (100-180). Accordingly, a very high SPD/SPM molar ratio in the abnormal CA region was observed, indicating an acceleration of polyamine neosynthesis which is usually related to ornithine decarboxylase induction. Metabolic changes in polyamines appear to be selective of human epileptic hippocampus. A relationship between glial proliferation (gliosis or neoplasia), epileptic firing and polyamines is discussed.
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PMID:Polyamine metabolism in epileptic cortex. 139 40

A man of 32 years was admitted with a 3-month history of temporal lobe epilepsy. CT-Scan showed a well-circumscribed area of heterogenous contrast enhancement in the right temporal lobe. Gross total resection was performed but the tumor recurred: the patient died 6 months after the onset of symptoms. There was no autopsy. Histology revealed a highly pleomorphic neoplasm with extensive zones of necrosis. Monster cells, up to several hundred micrometers in diameter, with multiple and/or multi-lobed nuclei were numerous and showed emperipolesis for polymorphonuclear, mononuclear, and small tumor cells. Abundant mitoses were observed. Tumor cells of all sizes had ground-glass or vacuolated cytoplasm which obscured their glial nature. GFAP was demonstrated in some neoplastic cells. Reticulin fibers were confined to perivascular areas where mononuclear inflammatory cells were sometimes noted. Vascular proliferation was mild. Electromicroscopic study revealed that the cytoplasms of the tumor cells contained abundant lipid droplets, numerous mitochondria, and glio-filaments. Such a tumor has been reported recently as "malignant glioma with heavily lipidized tumor cells". This rare entity, previously reported as xanthosarcoma of the brain, represents a subgroup of primitive monstrocellular cerebral tumors.
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PMID:Monstrocellular heavily lipidized malignant glioma. 351 29

We report 2 patients with transient abnormalities on magnetic resonance imaging (MRI) associated with partial status epilepticus (SE). A man with a 4-month history of partial seizures had complex partial SE for 9 days, with left temporal maximum on ictal EEG. Left temporal lobe T2 signal was increased on MRI during SE, but cerebral MRI was normal 9 weeks later. A woman with "cryptogenic" temporal lobe epilepsy for 16 years had complex partial SE for 1 week, with right temporal maximum on ictal EEG. T2 Signal was increased over the entire right temporal lobe, extending into the insula, without mass effect, on MRI 1 month after SE ended. Repeat MRI 1 month later showed marked decrease in volume of increased T2 intensity, without gadolinium enhancement, but with mild mass effect over the right anterioinferomesial temporal areas. A gemistocytic astrocytoma was resected. Focal cerebral MRI abnormalities consistent with cerebral edema may be due to partial SE but also may indicate underlying glioma, even in long-standing partial epilepsy. Focal structural imaging changes consistent with neoplasm should be followed to full resolution after partial SE.
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PMID:Focal cerebral magnetic resonance changes associated with partial status epilepticus. 811 55

We have developed a frameless stereotactic multi-articulated arm suitable for image-directed microsurgery and surgical navigation. The system comprises a frameless isocentric mechanism and a three-dimensional (3 D) digitizer for intra-operative monitoring. Five joints of our multi-articulated arm are equipped with electromagnetic clutches, and the arms are provided with counterbalancing weights to ensure safe, smooth movement. Stereotactic microsurgical procedures were carried out with a laser beam guide mounted at the tip of the isocentric arm. We have used this system in 22 cases to resect tumours or epileptic foci. There were 12 cases of glioma, 5 cases of deep seated benign tumours, 3 cases of multiple metastatic tumours, and 2 cases of temporal lobe epilepsy. Postoperative enhanced CT images indicated total or subtotal resection in all cases. We also have used this system to determine the approach for clipping of a posterior cerebral artery aneurysm in 2 cases. The error of mechanical accuracy of the system was less than 1 mm. We believe that this system will prove useful in image-directed microsurgical procedures.
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PMID:Frameless isocentric stereotactic laser beam guide for image-directed microsurgery. 812 46

Sleep state is a physiological modulator of epilepsy. Non rapid-eye-movement (NREM) sleep generally increases interictal epileptiform discharges (IEDs) and expands their field of distribution. In contrast, rapid eye movement (REM) sleep tends to suppress IEDs and may limit their spread outside of the region of primary seizure origin. The ability of REM sleep to restrict IEDs may have localizing value in temporal lobe epilepsy patients undergoing evaluations for epilepsy surgery. We present the case of a woman with medically-refractory seizures secondary to a mesial temporal glioma. Although scalp and intracranial electroencephalographic (EEG) seizure recordings supported bilateral epileptic foci, the IEDs recorded during REM sleep were restricted to the region of the glioma, and the patient had a successful surgical outcome. Our findings support the usefulness of combining sleep recordings with EEG monitoring in the evaluation of candidates for epilepsy surgery.
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PMID:Localizing value of rapid eye movement sleep in temporal lobe epilepsy. 1073 21

Gap junctions are an important means for intercellular communication during development, processes of tissue differentiation, and in maintenance of adult tissue homeostasis. We investigated the expression levels and distribution of connexin-43 (Cx-43), the most abundant astrocytic gap junction protein, in acutely isolated astrocytes and glioma cells from biopsy tissue obtained from patients diagnosed with glioblastoma multiforme (GBM), low-grade astrocytomas (LGAs), or mesial temporal lobe epilepsy. Western blot and immunohistochemical analyses indicated an inverse correlation between the amount of Cx-43 protein and tumor malignancy grade, as assessed by calculating tissue mitotic indexes (MI) obtained using anti-Ki-67 nuclear antigen staining. Samples from epilepsy patients had a low MI and were intensely positive for Cx-43 staining, while LGA tissue samples exhibited moderate staining for Cx-43 and average MI, and GBM biopsies showed significantly lower levels of Cx-43 and high MI. Functional coupling was assayed using fluorescence recovery after photobleach (FRAP). We found that cells from glioma cell lines and primary cultures of human astrocytes from GBM tissues displayed significantly lower degrees of gap junction intercellular communication (GJIC) as indicated by longer and less complete recovery from photobleaching. Mean recovery values were GBM 23.8% +/- 11.4%, LGA 49.4% +/- 47%, and nontumor astrocytes 67.2% +/- 8.4%. Western blot analysis of several human glioma cell lines and tissue biopsies showed variable expression levels of Cx-43, which correlated negatively with the extent of recovery in the same samples. Taken together, our findings suggest that high-grade brain tumors show reduced intercellular communication and a decrease in connexin-43 protein levels.
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PMID:Reduced expression of connexin-43 and functional gap junction coupling in human gliomas. 1118 May 8

Gangliogliomas constitute the most frequent tumour entity in patients with temporal lobe epilepsy. The characteristic histopathological admixture of glial and neuronal elements, the focal nature and their differentiated phenotype and benign biological behaviour suggest an origin from a developmentally compromised or dysplastic precursor lesion. The present study analysed TSC1 and TSC2 genes as potential candidates involved in the pathogenesis of this intriguing neoplasm. Recent data suggest that both genes play a role in cortical differentiation and growth control. DNA sequence analysis of TSC1 and TSC2 was studied in 20 patients with gangliogliomas. Fifteen of these tumours (75%) carried polymorphisms in the TSC2 gene. The frequency of these polymorphisms was significantly increased in intron 4 (12.5%) and exon 41 (15%) compared to control individuals (8.1 and 6.5%, respectively, n = 100). A somatic mutation in intron 32 of the TSC2 gene was encountered in one patient. In the TSC1 gene, seven polymorphisms occurred as a combination of base exchanges in exon 14 and intron 13. No mutations were observed in this gene. Laser microdissection and harvesting of individual neuronal and glial elements identified the intron 32 mutation within the glial portion but not in dysplastic neurones of the tumour. The data demonstrate numerous polymorphisms as well as a novel TSC2 mutation in gangliogliomas from patients with chronic epilepsies. The selective detection of the TSC2 mutation within the glial component of a ganglioglioma suggests that the glioma portion has undergone clonal evolution in this case.
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PMID:Mutational analysis of TSC1 and TSC2 genes in gangliogliomas. 1143 91

The epilepsies are a common, clinically heterogeneous group of disorders defined by recurrent unprovoked seizures. Here we describe identification of the causative gene in autosomal-dominant partial epilepsy with auditory features (ADPEAF, MIM 600512), a rare form of idiopathic lateral temporal lobe epilepsy characterized by partial seizures with auditory disturbances. We constructed a complete, 4.2-Mb physical map across the genetically implicated disease-gene region, identified 28 putative genes (Fig. 1) and resequenced all or part of 21 genes before identifying presumptive mutations in one copy of the leucine-rich, glioma-inactivated 1 gene (LGI1) in each of five families with ADPEAF. Previous studies have indicated that loss of both copies of LGI1 promotes glial tumor progression. We show that the expression pattern of mouse Lgi1 is predominantly neuronal and is consistent with the anatomic regions involved in temporal lobe epilepsy. Discovery of LGI1 as a cause of ADPEAF suggests new avenues for research on pathogenic mechanisms of idiopathic epilepsies.
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PMID:Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. 1181 Jan 7

Recently mutations in the LGI1 (leucine-rich, glioma-inactivated 1) gene have been found in human temporal lobe epilepsy. We have now identified three formerly unknown LGI-like genes. Hydropathy plots and pattern analysis showed that LGI genes encode proteins with large extra- and intracellular domains connected by a single transmembrane region. Sequence analysis demonstrated that LGI1, LGI2, LGI3, and LGI4 form a distinct subfamily when compared to other leucine-rich repeat-containing proteins. In silico mapping and radiation hybrid experiments assigned LGI2, LGI3, and LGI4 to different chromosomal regions (4p15.2, 8p21.3, 19q13.11), some of which have been implicated in epileptogenesis and/or tumorigenesis.
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PMID:The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins. 1202 20

Autosomal dominant lateral temporal lobe epilepsy previously has been linked to chromosome 10q22-q24, and recently mutations in the LGI1 gene (Leucine-rich gene, Glioma Inactivated) have been found in some autosomal dominant lateral temporal lobe epilepsy families. We have now identified a missense mutation affecting a conserved cysteine residue in the extracellular region of the LGI1 protein. The C46R mutation is associated with autosomal dominant lateral temporal lobe epilepsy in a large Norwegian family showing unusual clinical features like short-lasting sensory aphasia and auditory symptoms.
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PMID:LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. 1220 52


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