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)

We report an autopsy case of tuberous sclerosis. A 19-year-old Japanese man had shown facial adenoma sebaceum, intractable convulsive seizures and severe mental retardation. Gross inspection of the brain showed a cortical tuber from the orbital frontal lobe to the rhinencephalon of the left side and a few subependymal nodules. Histological examination revealed many cortical tubers in the cerebral hemispheres, a few subependymal nodules with calcification and multifocal clusters of heterotopic cells in the white matter (white matter nodules). In these lesions, massive giant cells with abundant eosinophilic cytoplasm and without Nissl substances were found. Although the size and shape of the giant cells were variable, the majority of them were gemistcytic, ovoid or polygonal. Immunohistochemistry was employed in these lesions using antibodies against neurofilament protein (NFP), glial fibrillary acidic protein (GFAP), vimentin (VM) and myelin basic protein (MBP). In the cortical tuber, the majority of the giant cells were positive for both NFP and VM, but a few were positive for GFAP. All of them were negative for MBP. In the subependymal nodule and white matter nodule, the majority of the giant cells were positive for NFP, but a few were positive for VM, and none were positive for either GFAP and MBP. These findings suggest that the majority of the giant cells may be immature cells toward neuronal series and a few may be those toward astroglial series. These findings also indicate that the giant cells in the subependymal nodule and white matter nodule may be more differentiated than those in the cortical tuber. The nature of the giant cells in tuberous sclerosis is discussed.
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PMID:An autopsy case of tuberous sclerosis. Histological and immunohistochemical study. 145 92

Two cases of hypothalamic hamartoma are presented. The first patient was a 4-year-old boy with precocious puberty, and the second was a 6-year-old boy with epileptic seizures. In both patients, clinical symptoms and signs appeared at the age of 2 years and progressed thereafter. Computerized tomography and magnetic resonance imaging in both cases disclosed a suprasellar mass lesion in continuity with the hypothalamus. Removal of the lesions affected the endocrinological status and/or seizure control. Pathological examination revealed the lesions to be composed of well-differentiated neuronal and glial cells. Immunohistochemical study demonstrated the presence of beta-endorphin, corticotropin-releasing factor, oxytocin, and neurofilament protein (210 kD) in the neuronal cells of the first patient, but no neuropeptides were detected in the second. Electron microscopic examination on the second patient disclosed the presence of many nonmyelinated and some myelinated neuronal processes containing dense-core and clear vesicles. The morphological characteristics and the role of surgery for this lesion are discussed.
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PMID:Hypothalamic hamartoma. Report of two cases. 292 5

A cDNA library was prepared from rabbit brain mRNA, in the expression vector, lambda gt11. The library was screened with polyclonal antibodies raised against the neurofilament protein NF-H, and a cloned cDNA (KMRH-1) was selected and characterized. The fusion protein coded for by KMRH-1 includes epitopes for two monoclonal antibodies which react with nonphosphorylated sites in the tail region of NF-H. The selected cDNA includes 891 base pairs. It hybridizes to human genomic DNA, as well as to rabbit genomic DNA, and to a rabbit brain mRNA with a size of 4.7 kilobases (kb). The sequence of KMRH-1 includes extensive repeating regions, including one duplicated 60-base segment. Within the first 196 bases, one 13-base segment is repeated 9 times. The cDNA codes for the carboxy-terminal 184 amino acid residues of NF-H, including a series of 9 serines, each surrounded by a similar group of amino acids: ..Ala.Lys.Ser.Pro.(Glu./Val.).Lys.. Comparison of the derived amino acid sequence for KMRH-1 indicates considerable divergence from the sequence information available for rodent NF-H (Robinson et al.: FEBS Lett 209:203-205, 1986). This diversity in amino acid sequence may account for the failure to induce tangles of neurofilaments in animals, such as rats, following treatment with doses of aluminum which are sufficient to induce such tangles in rabbits and to bring on seizures and behavioral pathology in both species.
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PMID:cDNA coding for the tail region of the high molecular weight rabbit neurofilament protein NF-H. 313 32

In adult rats single seizures of varying behavioural severities were caused by slow, systemic infusion of picrotoxin, an antagonist of the C1- channel at the GABAA receptor. We used a double labelling immunohistochemical method to define the subclasses of neurons that contained Fos protein following seizures. In four cortical regions (piriform, entorhinal, motor and sensory) neuronal subclasses were defined with antibodies against the calcium-binding proteins D-28K, parvalbumin and calretinin (aspiny neurons), and neurofilament protein (spiny neurons). The remaining spiny neuron population was estimated by subtraction of defined subclasses from total neuronal numbers determined from Nissl stain. After seizures, most of the calbindin D-28K immunoreactive interneurons (> 80%) and many of the unlabelled spiny neurons (60-80%) were FOs positive. Co-localisation of Fos was found in about 30% of parvalbumin, calretinin and neurofilament protein immunoreactive neurons. Paradoxically, mild seizures were associated with induction of Fos in up to 80% of cortical cells and more severe seizures with 60%, the difference being due to different levels of Fos induction in spiny neurons. These results also demonstrate that seizures induce Fos predominantly in excitatory cortical neurons.
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PMID:Fos induction in subtypes of cerebrocortical neurons following single picrotoxin-induced seizures. 895 26

The peritumoural neocortex removed from epileptic patients represents an important region for research because of its possible relationship to the generation, maintenance, and propagation of seizures. The peritumoural neocortex removed from an epileptic patient showing a regrowth of an anaplastic astrocytoma was examined in detail using immunocytochemistry for gamma-aminobutyric acid, glutamic acid decarboxylase, parvalbumin, nonphosphorylated neurofilament protein, glial fibrillary acidic protein, and histocompatibility antigen HLA-DR. The patterns of immunostaining were compared with the cytoarchitecture and myeloarchitecture in adjacent sections, and with the patterns of immunostaining observed in normal control neocortex. Furthermore, quantitative electron microscopy was used to compare the synaptic densities of presumptive excitatory and inhibitory synapses between regions showing different grades of cytoarchitectural and neurochemical alterations in the peritumoural neocortex, and to compare these regions with normal neocortex. A variety of changes in synaptic circuits in the peritumoural neocortex was found, but it appears that neurons within the less abnormal-looking regions were involved in altered synaptic circuits that might contribute to epileptic activity. In these regions, the most prominent change was the loss of inhibitory synapses on the soma and axon initial segment of pyramidal cells, but numerous excitatory synapses were present on their dendrites that would make these neurons hyperexcitable. However, the most abnormal regions histologically were likely a primary zone for progression of the tumour, with many surviving neurones, but which received and formed very few synapses; thus, they were probably unrelated to the initiation, maintenance, or propagation of seizures.
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PMID:Loss of inhibitory synapses on the soma and axon initial segment of pyramidal cells in human epileptic peritumoural neocortex: implications for epilepsy. 928 31

Chronic administration of electroconvulsive seizures (ECS), one of the most effective treatments for depression, induces sprouting of the mossy fibers in the hippocampus. This sprouting requires chronic ECS administration and appears to occur in the absence of hilar neuronal loss. Dynamic regulation of cytoarchitecture plays a vital role in such profound alterations of neuronal morphology. In particular, alterations in the neurofilament protein subunits have been implicated in neurite sprouting, neuronal regeneration, and growth. The present study was carried out to determine the influence of chronic ECS administration on the neurofilament subunits and other molecular markers of neuronal plasticity. Chronic ECS administration decreases the level of phosphorylated heavy neurofilament subunit (NF-H). In addition, the total level of the light neurofilament subunit (NF-L) but not the medium neurofilament subunit (NF-M) is decreased following chronic ECS treatment. Other cytoskeletal proteins, including actin, microtubule-associated protein (MAP-2), and tau, are not influenced by chronic ECS administration. Expression of the growth-associated protein (F1/GAP-43) also remains unchanged following chronic ECS treatment. The changes observed in neurofilaments may be part of the cytoskeletal remodeling that contributes to the mossy fiber sprouting induced by chronic ECS treatment.
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PMID:Alterations in heavy and light neurofilament proteins in hippocampus following chronic ECS administration. 1061 39

Pontocerebellar hypoplasia (PCH) is a very rare congenital (autosomal recessive) condition with fetal onset. Only a few cases have been published on the basis of both clinical data (symptoms/neuroradiological imaging) and autopsy results. This paper reports on such a case involving a 1.5-year-old male infant. The child suffered from severe psychomotor delay, extrapyramidal dyskinesia and epileptic seizures, but did not exhibit signs of spinal muscular atrophy as related to PCH type 1. Magnetic resonance imaging (MRI) at the age of 6 months demonstrated olivo-pontine and bilateral cerebellar hypoplasia. The boy was unexpectedly found dead. Autopsy disclosed a severe aspiration of gastric contents as the final cause of death. The neuropathological examination confirmed PCH type 2 (according to Barth [Brain Dev., 15 (1993) 411-422]) with marked microcephaly and olivopontocerebellar hypoplasia. Histologically, decreased density of olivo-pontine neurons, reduction of granular and Purkinje's cell layers of the cerebellum, slight astroglial proliferation and fragmented appearance of the dentate nuclei were observed. The immunohistochemical expression pattern was determined using antibodies against glial fibrillary acidic protein, synaptophysin and neurofilament protein. Summarizing, typical features of PCH type 2 were present and proved by clinical course, MRI and autopsy. Despite severe symptoms due to a natural disease this rare neurogenetic entity can become of forensic interest, when sudden unexpected death occurs.
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PMID:Fatal outcome in a case of pontocerebellar hypoplasia type 2. 1097 19

Amygdaloid kindling is well known as an experimental model of temporal lobe epilepsy. However, the mechanism of kindling epileptogenesis remains unclear. To examine the remodelling process in kindling, we performed immunohistochemistry of nestin, an embryonic intermediate neurofilament protein, in amygdaloid kindled rats. In rats expressing focal seizures (kindling stage C3), nestin immunoreactive cells (NIC) were detected at ipsilateral piriform cortex (PC) and ipsilateral perirhinal cortex (PRh), and at PC bilaterally in fully kindled rats expressing secondary generalized seizures (kindling stage C5). Double staining with glial fibrillary acidic protein revealed that almost all reactive astrocytes at PC express nestin immunoreactivity. These results suggest that glial NIC may participate in the remodelling process at the PC and PRh areas. This is the first report of nestin expression in kindling and suggests that glial nestin at PC and PRh may play a significant role in permanent epileptogenesis in kindling.
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PMID:Expression of an embryonic intermediate filament protein in amygdaloid kindled rats. 1124 36

Tissue plasminogen activator (tPA) is a serine protease that converts plasminogen to plasmin. It plays an important role in the nervous system, including the processes of neuronal migration, neurite outgrowth, and neuronal plasticity. tPA has also been suggested to have a role in several neuropathological conditions, such as cerebral ischemia, seizures, and demyelinating diseases. To investigate the role of tPA in spinal cord injury, wild-type mice and mice with homozygous tPA deficiency (tPA(-/-) mice) were subjected to spinal cord contusion and the differences of hindlimb function, electrophysiological changes, and histopathological changes were assessed for 6 weeks. Functional recovery was greater in tPA(-/-) mice than in wild-type mice throughout the observation period. The time course of myoelectric motor-evoked potentials supported the hindlimb functional findings. Histological examination showed that injured areas were smaller in tPA(-/-) mice than wild-type mice on Luxol fast blue staining or myelin basic protein and neurofilament protein immunostaining at 6 weeks after contusion. Electron microscopy showed that the white matter was better preserved in tPA(-/-) mice than in wild-type mice. The expression of tPA protein was widespread on the first day after contusion and this expression was detected for at least a week. Activation of microglia/macrophages and apoptotic cell death were significantly reduced in tPA(-/-) mice after contusion. This study shows that neural damage is decreased in tPA(-/-) mice after spinal cord injury. Suppression of tPA production may help to decrease secondary injury after spinal cord contusion.
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PMID:Decreased neural damage after spinal cord injury in tPA-deficient mice. 1261 87

Many anecdotal cases and some clinical studies have demonstrated that formaldehyde exposure can cause multiple health-related problems and cerebral dysfunction. The U.S. Consumer Product Safety Commission has documented multiple hazards related to formaldehyde exposure. Some of this research has suggested that low levels of exposure can be very hazardous to one's health and can potentially result in heightened chemical sensitivities, seizures, and cognitive decline. Some research suggests that exposure results in long-term immunological changes, cell neurofilament protein changes, and demyelination. Symptomatically, exposure has been associated with respiratory problems, excessive fatigue, headaches, mood changes, and impaired attention, concentration, and memory functioning. This article outlines the case of a biology teacher whose chronic formaldehyde exposure resulted in heightened sensitivity to formaldehyde, three tonic-clonic seizures, and dramatic amnesia as well as other cognitive dysfunction.
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PMID:A case of claimed persistent neuropsychological sequelae of chronic formaldehyde exposure: clinical, psychometric, and functional findings. 1459 Jan 91


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