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)

The influence of age on the prevalence of individual clinical manifestations of systemic lupus erythematosus (SLE) has not been adequately distinguished from racial or gender influences. Therefore, we examined variations in the clinical manifestations of SLE with age in a group of 361 patients. Multivariate regression techniques, including logistic regression and analysis of covariance, were used to identify clinical features associated with age, while controlling for important confounding factors, including race, gender, duration of followup, and treatment effects. Lymphopenia was found more frequently with increasing age, while malar rash, seizures, false-positive VDRL, thrombocytopenia (in whites), proteinuria (0.5-3.5 g/day), elevated antidouble stranded DNA antibodies, and hypocomplementemia were found less frequently. No age relationship was found for the prevalence of 16 of 24 clinical features examined, including the important disease manifestations of arthritis, serositis, psychosis, nephrotic-range proteinuria, renal failure, autoimmune hemolytic anemia, and leukopenia. The use of regression analysis allows the recognition of similarities and differences in cumulative clinical features of SLE due to age in isolation from the effects of other demographic factors.
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PMID:Age associated clinical manifestations of systemic lupus erythematosus: a multivariate regression analysis. 234 26

The deduced amino acid sequence of a Drosophila gene isolated with a vertebrate sodium channel complementary DNA probe revealed an organization virtually identical to the vertebrate sodium channel protein; four homologous domains containing all putative membrane-spanning regions are repeated in tandem with connecting linkers of various sizes. All areas of the protein presumed to be critical for channel function show high evolutionary conservation. These include those proposed to function in voltage-sensitive gating, inactivation, and ion selectivity. All 24 putative gating charges of the vertebrate protein are in identical positions in the Drosophila gene. Ten introns interrupt the coding regions of the four homology units; introns with positions conserved among homology units bracket a region hypothesized to be the selectivity filter for the channel. The Drosophila gene maps to the right arm of the second chromosome in region 60D-E. This position does not coincide with any known mutations that confer behavioral phenotypes, but is close to the seizure locus (60A-B), which has been hypothesized to code for a voltage-sensitive sodium channel.
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PMID:Genomic organization and deduced amino acid sequence of a putative sodium channel gene in Drosophila. 244 69

A clinical history typical of multisclerosis began in a 20-year old man with transient, then permanent manifestations involving the optic tract and the pyramidal, extrapyramidal and cerebellar systems. The patient died at the age of 62, at the end-stage of a complex clinical situation which included paraplegia, bilateral cerebellar syndrome, optic nerve atrophy, epileptic seizures and dementia. When the patient was 54 years old, laboratory findings suggestive of systemic lupus erythematosus (SLE) were discovered, namely: antinuclear, native anti-DNA, anti-Sm antibodies, circulating anticoagulant, cryoglobulinaemia and low complement level. These abnormalities persisted up to the patient's death, 8 years later, without any non-neurological sign of SLE. Post-mortem examination showed lesions of focal demyelination characteristic of multiple sclerosis, but no evidence of cerebral or extracerebral SLE. This case raises the problem of borderlines or associations between systemic lupus erythematosus and multiple sclerosis. In our case, as in other cases of "lupoid sclerosis" reported in the literature, there was a frank and isolated elevation of serum IgM levels.
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PMID:[Multiple sclerosis associated with biological symptoms of systemic lupus erythematosus. A case with anatomical study]. 248 95

This report contains a summary of an extensive survey of autopsy data for mentally retarded persons. Among adults with DS, the brain neuropathology of AD was universal in those age 37 and over; claimed exceptions were indefensible. The behavioral evaluations of the DS adults, however, could be classified into three divisions: 1. "quiescent" (neither seizures nor dementia, 2). "partial" (seizures but no dementia), and 3). "active" (dementia +/- seizures). Thus, it is reasonable to argue that all persons with DS develop AD itself upon aging. However, DS cannot be used uncritically as an AD model since no increased incidence of active AD was found in DS with aging beyond the critical threshold age (mid-30's). Improved accurate quantification of Southern blots produced 100% accuracy in decoding blind samples of DS and non-DS samples. Using this system, DNA levels similar to those of DS have been demonstrated for all categories of AD at a small subsection of chromosome 21 near to, or within the DS DNA location on chromosome 21. Increased amounts of a complete, structural gene sequence were not found (or expected). The results provide evidence for a unitary hypothesis for DS and all forms of AD.
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PMID:Alzheimer's disease and Down syndrome. 253 69

Among a series of 44 transgenic families established after microinjection into fertilized eggs of a plasmid DNA where the structural gene for the large T antigen of polyoma virus is located downstream from the viral early promoter-enhancer region, one family with a hereditary neurological disorder was observed. At about three weeks of age, these animals developed a syndrome of constant tremor with recurrent seizures. Histological and ultra-structural examination revealed extensive dysmyelination in the white matter of the brain stem, cerebellum and spinal cord, as well as of peripheral nerves. This phenotype is reminiscent of that of the mouse "twitcher" (twi) mutant and of the human hereditary leukodystrophies. Expression of the viral sequences, assayed by Northern analysis and immunolabeling of T antigen, occurred predominantly in cells of the central nervous system. Integration of the transgene was mapped by in situ hybridization on metaphasic plaques in region B-C1 of chromosome 12 (where the twi locus was previously localized). Long-term cultures of cells with neural characteristics could be established readily from the brain of the transgenic mice.
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PMID:Neurological disorder in transgenic mice that express the large T antigen of polyoma virus in the nervous system. 256 75

Neuronal ceroid lipofuscinosis is a common cause of neurodegenerative disease in children. The disease is characterized by visual failure, seizures and dementia. The presence of cortical atrophy by computerized axial tomography and distinctive ultrastructural findings by skin biopsy, together with a suggestive clinical course and neurophysiologic abnormalities, lead to a diagnosis. Presently four subtypes and rare atypical forms are recognized: the infantile, late infantile, juvenile and adult or Kufs variants and atypical early juvenile and protracted juvenile types. The inheritance pattern is autosomal recessive in all subtypes with some of the adult cases representing autosomal dominant inheritance. The biochemical characterization of this disorder is just beginning. There is some evidence to implicate overglycosylation of proteins as playing a role in pathogenesis. Further biochemical description coupled with linkage analysis techniques using DNA probes are needed to develop a better understanding of this group of disorders.
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PMID:Neurological progress. The neuronal ceroid lipofuscinoses: a review. 265 76

The mechanism(s) by which long-term changes are induced and maintained in the nervous system are poorly understood. Kindling is an example of a permanent change in brain function that results from repeated elicitation of seizures. Recently, a class of genes called "immediate-early genes" that were previously thought to be only involved in cell division, differentiation and perhaps neoplasia have been shown to be rapidly and transiently induced in adult neurons following afterdischarges, ECS and chemically-evoked seizures. The products of these genes (e.g., FOS, JUN) are DNA-binding proteins and it is thought that they alter, perhaps in a coordinate fashion, the transcription of "late-effector genes." These late genes may code for enzymes, neuropeptides, receptors, ion channels, structural proteins, growth factors, etc. that may cause permanent biochemical and/or morphological changes in the brain that give rise to the kindled state. Thus, these early genes may act as molecular switches turning on a plasticity (kindling) program in neurons in a fashion similar to their induction of developmental programs in dividing cells.
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PMID:Immediate-early genes, kindling and long-term potentiation. 269 35

Glucocorticoids (GCs) are highly pathogenic if secreted in excess. Recent work shows that such deleterious consequences include damage to the hippocampus, a principal neural target site for GCs. Excessive chronic exposure to GCs accelerates senescent hippocampal neuron loss, while the presence of GCs at the time of neurological insults, such as seizure or hypoxia-ischemia, exacerbates hippocampal damage. The present study determines whether GCs endanger hippocampal neurons through the same mechanism by which they damage lymphocytes. GC-induced lymphocytolysis involves cleavage of chromosomal DNA, most likely through steroid induction of a nuclease that produces a characteristic ladder of fragmented DNA. Moreover, inhibition of DNA repair using the poly(ADP-ribose) synthetase inhibitor benzamide exacerbates GC-induced lymphocytolysis. We replicated this GC-induced fragmentation of DNA in thymocytes, but observed the absence of a similar fragmentation in DNA from primary hippocampal cultures under conditions in which GCs exacerbate the toxic effects of the excitotoxin kainic acid. Furthermore, under such conditions benzamide did not worsen the GC/kainic acid toxicity. These observations suggest that GCs endanger hippocampal neurons through a different mechanism, one that seems likely to be less sterotyped and simple than this cascade of apoptosis in lymphocytes.
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PMID:Glucocorticoid endangerment of hippocampal neurons does not involve deoxyribonucleic acid cleavage. 272 59

The effect of seizures on synthesis of the polyadenylic acid (poly(A]-containing messenger RNA (mRNA) isolated from brain polysomes in a genetically seizure-susceptible E1 mouse was studied in vivo. The seizure in the E1 mice was induced by tossed-up stimulation. Immediately after the seizure ceased, the labeled orotic acid was injected into the brain. The incorporation rates of labeled orotic acid into poly(A)-containing mRNA isolated from polysomes are represented as the specific radioactivity (SR) (dpm/mg RNA) and the relative specific radioactivity (RSR) (dpm/mg RNA/dpm/mumoles of acid soluble uridine-5'-monophosphate (UMP]. Both the rates were reduced to 70% in SR and 65% in RSR at 1 h after the seizures. This reduction was gradually recovered to the level of interictal E1 mice at 6 h. The seizure-induced alterations are not attributable to the difference in the uridine nucleotide pool because the SR of UMP was not significantly affected by the seizure. The peak of labeled poly(A)-containing mRNA by analysis of gel electrophoresis displaced towards a lower molecular weight at 1 h after the seizures. The RNA showed a higher ratio of AMP and UMP per GMP and CMP in nucleotide composition, implying that this RNA is identical with DNA. These results suggest that the temporary decrease found in cytoplasmic mRNA synthesis induced by the seizures of E1 mice appears to be a result of impaired transcriptional processes in heterogeneous nuclear RNA synthesis and that the smaller mRNA coding for protein associated with seizures is newly synthesized during the postictal period.
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PMID:Alterations in polyadenylic acid-containing messenger RNA synthesis of brain polysomes after seizures of seizure-susceptible E1 mice. 281 90

Recurrent seizures, commonly known as epilepsies, occur in 1.7% of the general population by age 40. The factors that initiate or underlie seizures are not well understood, but trauma, infectious disease and genetics have been implicated. An understanding of the molecular basis of seizures would shed light on the basic mechanisms of neuronal homeostasis and allow new therapeutic strategies to be explored. Here, we report the mapping of an epilepsy gene to a specific chromosomal region, on the basis of cosegregation of two closely-linked DNA markers with a form of epilepsy known as benign familial neonatal convulsions (BFNC2, 12120 in ref. 3). The linked markers confirm the genetic basis and autosomal dominant inheritance of this trait, and localize the gene causing BFNC in this family to the long arm of chromosome 20. This regional placement is the first step towards the isolation of a gene involved in neuronal activity in the human brain.
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PMID:Benign familial neonatal convulsions linked to genetic markers on chromosome 20. 291 97


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