Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pleomorphic xanthoastrocytoma (PXA) is a rare superficial glioma that predominates in the young and has good prognosis. A long history of repeated seizures is commonly associated with PXA, which is frequently observed in neuroimaging scans as a solid-cystic, contrast-enhancing lesion. We report a case in which PXA diagnosis was favored by its histological features, such as pleomorphic multinucleated giant cells, with disproportionately few mitoses and necrotic areas. An eye-catching feature was widespread, pale-staining, circumscribed deposits in the cytoplasm of tumor cells, which turned out to be glycogen upon histochemical and electron-microscopical examination. The stored material was strongly PAS-positive and digested by diastase, and had a finely granular ultrastructural appearance. No evidence of lipid droplets was found on oil-red-O staining. The tumor was immunoreactive for glial fibrillary acidic protein and vimentin. Many cells were positive for CD34 on the external membrane, a feature which has been described in chronic CNS lesions associated with epilepsy. Intracytoplasmic immunostaining for EGFR was observed in most tumor cells, which might have favored neoplastic proliferation. Nuclear immunolabeling for p53 protein was rare and does not support a major role for p53 mutation in PXA tumorigenesis. Intracellular accumulation of glycogen in glial tumors is uncommon and may originate from abnormalities in carbohydrate metabolic pathways.
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PMID:Temporal pleomorphic xanthoastrocytoma with glycogen accumulation--case report. 1866 39

In the present study, we performed an analysis of tandem of P domains in a weak inwardly rectifying K+ channel (TWIK)-related acid-sensitive K+ (TASK)-1 channel immunoreactivity in the rat hippocampal complex following pilocarpine-induced status epilepticus (SE). In control animals, TASK-1 immunoreactivity was strongly detected in astrocytes in the hippocampal complex. One day after SE, TASK-1 immunoreactivity in astrocytes was markedly reduced only in the molecular layer of the dentate gyrus. One week after SE, loss of astrocytes was observed in the molecular layer of the dentate gyrus. At this time point, TASK-1 immunoreactive cells were detected mainly in the subgranular region. These cells had bipolar, elongated cell bodies with fusiform-shaped nuclei and showed vimentin immunoreactivity. Four weeks after SE (when spontaneous seizure developed), typical reactive astrogliosis was observed in the dentate gyrus and the CA1 region. Almost no astrocytes in the molecular layer showed TASK-1 immunoreactivity, whereas astrocytes in the CA1 region showed strong TASK-1 immunoreactivity. These findings indicate that, after SE, TASK-1 immunoreactivity was differentially altered in astrocytes located in different regions of the hippocampal complex, and these changes were caused by astroglial degeneration/regeneration. Therefore, alteration in TASK-1 immunoreactivity may contribute to acquisition of the properties of the epileptic hippocampal complex.
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PMID:Region-specific alterations in astroglial TWIK-related acid-sensitive K+-1 channel immunoreactivity in the rat hippocampal complex following pilocarpine-induced status epilepticus. 1867 Dec 95

Sarcoma metastatic to the brain is uncommon and rarely occurs as the initial manifestation of tumor. Alveolar soft part sarcoma (ASPS) is a rare but well-studied subtype of sarcoma. A 39-year-old man presented with seizures due to a left temporal meningeal-enhancing lesion with striking brain edema on MRI. The patient underwent neurosurgical resection for suspected meningioma. Histology showed large tumor cells clustering and forming small nests, in places with pseudoalveolar pattern. Diastase-resistant periodic acid-Schiff revealed very rare granular and rod-like cytoplasmic inclusions. Immunohistochemistry showed convincing positivity only with vimentin and smooth muscle actin. The histological features were strongly suggestive of ASPS. At the molecular level RT-PCR and sequencing analysis demonstrated ASPCR1-TFE3 fusion confirming the histological diagnosis of ASPS. There was no evidence of primary extracranial tumor by physical examination and on chest and abdominal CT scan 11 months after presentation. ASPS typically arise from the soft tissues of the extremities and develop multiple metastatic deposits usually with a long clinical course. This case may represent primary meningeal ASPS although metastatic deposit from an undiscovered primary site cannot be entirely excluded.
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PMID:Meningeal alveolar soft part sarcoma confirmed by characteristic ASPCR1-TFE3 fusion. 1871 11

A 10-yr-old female lion (Panthera leo) presented for acute onset ataxia and weakness with a history of two seizure episodes 6 mo prior to presentation and a persistent head tilt for at least 6 mo. Gross necropsy findings included a gelatinous mass in the right cerebral hemisphere extending from the frontal to the occipital lobes. Histologically, the mass was composed of polygonal cells surrounding lakes of mucinous material. These cells had clear cytoplasm, ovoid basophilic nuclei, and inapparent cell processes. Immunoreactivity was positive for S100 and neuron-specific enolase but negative for glial fibrillary acid protein, myelin basic protein, neurofilament triplet, vimentin, and cytokeratin. All findings were consistent with an oligodendroglioma. A second neoplasm, a pulmonary adenoma, was also iidentified at necropsy.
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PMID:Oligodendroglioma in an african lion (Panthera leo). 1911 Jul 12

Alexander disease (AxD) is a primary disorder of astrocytes caused by dominant mutations in the gene for glial fibrillary acidic protein (GFAP). These mutations lead to protein aggregation and formation of Rosenthal fibers, complex astrocytic inclusions that contain GFAP, vimentin, plectin, ubiquitin, Hsp27 and alphaB-crystallin. The small heat shock protein alphaB-crystallin (Cryab) regulates GFAP assembly, and elevation of Cryab is a consistent feature of AxD; however, its role in Rosenthal fibers and AxD pathology is not known. Here, we show in AxD mouse models that loss of Cryab results in increased mortality, whereas elevation of Cryab rescues animals from terminal seizures. When mice with Rosenthal fibers induced by over-expression of GFAP are crossed into a Cryab-null background, over half die at 1 month of age. Restoration of Cryab expression through the GFAP promoter reverses this outcome, showing the effect is astrocyte-specific. Conversely, in mice engineered to express both AxD-associated mutations and elevated GFAP, which despite natural induction of Cryab also die at 1 month, transgenic over-expression of Cryab results in a markedly reduced CNS stress response, restores expression of the glutamate transporter Glt1 (EAAT2) and protects these animals from death. In its most common form, AxD is a devastating neurodegenerative disease, with early onset, characterized by seizures, spasticity and developmental delays, ultimately leading to death. Cryab plays a critical role in tempering AxD pathology and should be investigated as a therapeutic target for this and other diseases with astropathology.
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PMID:Suppression of GFAP toxicity by alphaB-crystallin in mouse models of Alexander disease. 1912 71

Glutamine synthetase (GS) is a pivotal glial enzyme in the glutamate-glutamine cycle. GS is important in maintaining low extracellular glutamate concentrations and is downregulated in the hippocampus of temporal lobe epilepsy patients with mesial-temporal sclerosis, an epilepsy syndrome that is frequently associated with early life febrile seizures (FS). Human congenital loss of GS activity has been shown to result in brain malformations, seizures and death within days after birth. Recently, we showed that GS knockout mice die during embryonic development and that haploinsufficient GS mice have no obvious abnormalities or behavioral seizures. In the present study, we investigated whether reduced expression/activity of GS in haploinsufficient GS mice increased the susceptibility to experimentally induced FS. FS were elicited by warm-air-induced hyperthermia in 14-day-old mice and resulted in seizures in most animals. FS susceptibility was measured as latencies to four behavioral FS characteristics. Our phenotypic data show that haploinsufficient mice are more susceptible to experimentally induced FS (P < 0.005) than littermate controls. Haploinsufficient animals did not differ from controls in hippocampal amino acid content, structure (Nissl and calbindin), glial properties (glial fibrillary acidic protein and vimentin) or expression of other components of the glutamate-glutamine cycle (excitatory amino acid transporter-2 and vesicular glutamate transporter-1). Thus, we identified GS as a FS susceptibility gene. GS activity-disrupting mutations have been described in the human population, but heterozygote mutations were not clearly associated with seizures or epilepsy. Our results indicate that individuals with reduced GS activity may have reduced FS seizure thresholds. Genetic association studies will be required to test this hypothesis.
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PMID:Haploinsufficiency of glutamine synthetase increases susceptibility to experimental febrile seizures. 1917 Jul 55

The presence of balloon cells, a pathognomonic cellular feature of focal cortical dysplasia type IIB, in a background of hippocampal sclerosis is rare. Here we report the surgical pathologic features of the hippocampus resected from a 32-year-old woman with mesial temporal lobe epilepsy and a precipitating history of non-herpetic acute limbic encephalitis. Histologically, the resected specimen showed features of hippocampal sclerosis with granule cell dispersion. Characteristically, many balloon cells, immunoreactive for nestin, vimentin, glial fibrillary acidic protein (GFAP), GFAP-delta and CD34, were observed in the molecular and granule cell layers of the dentate gyrus. In the present case hippocampal sclerosis was an apparently acquired alteration, rather than a result of maldevelopment. The appearance of balloon cells raises questions regarding their origin and morphogenesis.
Seizure 2011 Jan
PMID:Balloon cells in the dentate gyrus in hippocampal sclerosis associated with non-herpetic acute limbic encephalitis. 2095 Oct 65

We describe a rare case of multinodular cerebral neuroepithelial tumor with ependymal differentiation. A 65-year-old man experienced loss of consciousness with an obscure episode of seizure attack. Magnetic resonance images disclosed a lesion located in the left temporal lobe and the insular cortex. The tumor was partially removed. Histologically, the tumor showed infiltrating multinodular tumor nodules in the cerebrum. Each nodule was well demarcated and composed of clear cells with perinuclear halos, intermingled fibrillary cells, and poorly differentiated neuroepithelial cells with mitotic activity. Immunohistochemically, clear cells showed dot-like positivity for epithelial membrane antigen. Fibrillary cells were positive for vimentin and nestin, whereas only a few glial fibrillary acidic protein-immunopositive cells were seen. We conclude that this tumor, being microscopically characterized by multinodular tumor nodules, was a high-grade neuroepithelial tumor with ependymal differentiation.
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PMID:A case of multinodular high-grade neuroepithelial tumor with ependymal differentiation. 2147 54

Excessive alcohol intake, characteristic of an alcohol use disorder (AUD), results in neurodegeneration as well as cognitive deficits that may recover in abstinence. Neurodegeneration in psychiatric disorders such as AUDs is due to various effects on tissue integrity. Several groups report that alcohol-induced neurodegeneration and recovery include a role for adult neurogenesis. Therefore, the initial purpose of this study was to investigate the effect of alcohol on the temporal profile of neural progenitor cells using the radial glia marker, vimentin, in a model of an AUD. However, striking vimentin expression throughout corticolimbic regions led, instead, to the discovery of a significant gliosis response in this model. Adult male rats were subjected to a 4-day binge model of an AUD and brains harvested for immunohistochemistry at 0, 2, 4, 7, 14, and 28 days following the last dose of ethanol. A prominent increase in vimentin immunoreactivity was apparent at 4 and 7 days post binge that returned to control levels by 14 days in the corticolimbic regions examined. Vimentin-positive cells co-labeled with glial fibrillary acidic protein (GFAP), which suggested that cells were reactive astrocytes. A second experiment supported that increased vimentin was not primarily due to alcohol withdrawal seizures and is more likely due to alcohol-induced cell death. As this gliosis was remarkably distinct in regions where cell death had not previously been reported in this model, adjacent tissue sections were processed for FluoroJade B staining for cell death. FluoroJade B-positive cells were evident immediately following the last ethanol dose as expected, but were significantly elevated in the hippocampal dentate gyrus and CA3 regions and corticolimbic regions from 2 to 7 days post binge. Intriguingly, vimentin labeling of astrogliosis is more widespread than FluoroJade B labeling of cell death, which suggests that 4-day binge ethanol consumption is more damaging than originally realized.
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PMID:Upregulated vimentin suggests new areas of neurodegeneration in a model of an alcohol use disorder. 2195 62

A 10-year-old, female spayed Chihuahua dog was presented to the Veterinary Teaching Hospital at the University of Georgia for evaluation of seizures, abnormal mentation, and cervical pain of 2 months duration. On magnetic resonance imaging, there was generalized thickening of the meninges overlying the left cerebral hemisphere and along the falx cerebri. Despite symptomatic treatment, the dog remained neurologically affected. Consequently, the owners elected euthanasia. On gross examination, the meninges covering the left cerebral hemisphere were severely thickened and firmly adhered to the calvaria. On transverse section, the white matter of the left cerebral hemisphere was swollen, enlarged, and extended across the midline with resultant compression of the right cerebral hemisphere. Cytologic evaluation of an impression smear of the thickened meninges showed numerous large, spindloid to polygonal cells with abundant, amphophilic, vacuolated cytoplasm, present either in clusters or in individual cells. Histopathologic evaluation of the meninges revealed a poorly circumscribed and infiltrative, moderately cellular neoplasm, composed of vacuolated, spindloid to polygonal cells with marked anisocytosis and anisokaryosis, arranged in sheets, and occasionally separated by thick bands of connective tissue. Immunohistochemistry for vimentin revealed diffuse cytoplasmic staining of the neoplastic cells. Although the periodic acid-Schiff reaction was negative, ultrastructural findings showed numerous vesicles that were empty or that contained membranous or electron-dense material. Based on gross, microscopic, immunohistochemical, and ultrastructural changes, the meningeal neoplasm was diagnosed as an atypical granular cell tumor.
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PMID:Atypical meningeal granular cell tumor in a dog. 2236 53


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