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)

Oligodendrogliomas account for 4-5% of primary central nervous system tumours with a slow and infiltrative growth. We report the clinical and pathological findings of 15 cases of oligodendrogliomas. Eight patients were males and 7 were females. The ages ranged between 17 and 66 years, with a mean of 39.73 years. The symptoms reflected the growth and topography of the tumours; migraine (60%) and seizures (60%) were the most frequent symptoms. Frontal (n = 6), parietal (n = 2), temporal (n = 1) and occipital (n = 1) lobes were affected. Five patients undergone total resection of the tumor and 10 were submitted to partial resection, from which 3 received adjuvant radiotherapy, 1 adjuvant chemotherapy and 1 chemotherapy and radiotherapy. The overall recurrence rate was 60% for a 32 month follow up. Five recurrences were observed in patients submitted only to the surgical treatment and 4 in which adjuvant radio or chemotherapy were performed. These results are similar with the literature and may contribute to further understanding the biological behavior of these rare tumours.
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PMID:[Oligodendroglioma: a pathological and clinical study of 15 cases]. 1041 25

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral vasculopathy progressing to subcortical dementia, caused by multiple lacunar infarcts and ischemic white matter degeneration. Migraine with aura, epileptic seizures and affective disorders are frequent additional symptoms of CADASIL. The causative mutations of the Notch3 gene are located on chromosome 19p13.1. There is complete penetrance of this disorder, although individual expression of symptoms may vary. Manifestation of CADASIL is usually in the 3rd decade, but some individuals remain asymptomatic close to the age of 60. MRI displays a marked leukoencephalopathy in affected individuals as early as in the age of 20. Frontal and subcortical hypoperfusion in demented individuals was demonstrated by SPECT-studies. The prevalence of CADASIL is still not known. To date there is no causative therapy.
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PMID:[CADASIL. Clinical aspects, neuroradiology, genetics and diagnosis]. 1054 99

Studies of neuroactive amino acids and their regulatory enzymes in surgically excised focally epileptic human brain are reviewed. Concentrations of glutamate, aspartate and glycine are significantly increased in epileptogenic cerebral cortex. The activities of the enzymes, glutamate dehydrogenase and aspartate aminotransferase, involved in glutamate and aspartate metabolism are also increased. Polyamine synthesis is enhanced in epileptogenic cortex and may contribute to the activation of N-methyl-D-aspartate (NMDA) receptors. Nuclear magnetic resonance spectroscopy (NMRS) reveals that patients with poorly controlled complex partial seizures have a significant diminution in occipital lobe gamma aminobutyric acid (GABA) concentration. The activity of the enzyme GABA-aminotransaminase (GABA-T) which catalyzes GABA degradation is not altered in epileptogenic cortex. NMRS studies show that vigabatrin, a GABA-T inhibitor and effective antiepileptic, significantly increases brain GABA. Glutamate decarboxylase (GAD), responsible for GABA synthesis, is diminished in interneurons in discrete regions of epileptogenic cortex and hippocampus. In vivo microdialysis performed in epilepsy surgery patients provides measurements of extracellular amino acid levels during spontaneous seizures. Glutamate concentrations are higher in epileptic hippocampi and increase before seizure onset reaching potentially excitotoxic levels. Frontal or temporal cortical epileptogenic foci also release aspartate, glutamate and serine particularly during intense seizures or status epilepticus. GABA in contrast, exhibits a delayed and feeble rise in the epileptic hippocampus possibly due to a reduction in the number and/or efficiency of GABA transporters.
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PMID:Neuroactive amino acids in focally epileptic human brain: a review. 1055 79

The goal of this study is to evaluate the response of epileptic seizures associated with cerebral arteriovenous malformations following radiosurgery and determine the factors associated with a positive outcome. The series included 210 patients (123 men, 87 women) with a mean age of 33. One hundred seventy three patients out of 210 were controlled after radiosurgery. Seizures completely disappeared in 58% of cases and decreased in 18%. Anti-epileptic treatment was stopped in 44%. Sex and age upon seizure appearance were not found as determining factors in patients whose seizures disappeared after radiosurgery. Generalized seizures disappeared following radiosurgery in 90.7%, partial secondary generalized seizures in 53.5%, and partial seizures in only 39.6%. Frontal or temporal malformations are associated with a better response after radiosurgery than sylvian or rolandic location. Seizure disappearance was maximal in case of isolated seizure prior to the radiosurgery (84.4%), was reduced to 61.2% when seizures were limited to 2 to 20, and disappeared in 21.4% in severe seizures. Epilepsy present less than 3 years prior to radiosurgery disappeared in 71.9%; was reduced to 45% when the delay was over 3 years. Seizures disappeared in 64.4% when the malformation was obliterated, they were reduced to 46.9% when malformations persisted. The persistence of severe seizures following radiosurgery was linked to persistence of the malformation. On the other hand early seizures occurred in 3.3% during the first 48 hours following radiosurgery; they disappeared in 72.2% after that period. De novo seizures also occurred in 1.7% and disappeared in all these cases. In conclusion, seizures associated with cerebral arteriovenous malformations respond well to radiosurgery; the malformation obliteration evokes its association with the seizure; the seizure disappearance in spite of persistence of the malformation evokes the positive effect of radiotherapy on epileptic seizures.
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PMID:[Evolution of epileptic seizures associated with cerebral arteriovenous malformations after radiosurgery]. 1140 15

Most published neuropsychologic studies on frontal lobe epilepsy have been performed on mixed groups of adults and adolescents with epilepsies of varying etiology. The cognitive profile of frontal lobe epilepsy in children has not been defined. The purpose of this study was to assess neuropsychologic performance in children with frontal lobe epilepsy. Intelligence and executive functions were examined in eight children (age 6 7/12 years to 13 11/12 years) with frontal lobe epilepsy. Performance was related to the focus side, seizure frequency, and age of epilepsy onset. Frontal lobe epilepsy was associated with a range of frontal dysfunctions, but IQ was generally spared. Left focus was associated with deficits in categorization, verbal long-term memory, and detailed visuospatial analysis. Frequent seizures correlated with attention difficulties and inability to inhibit impulsive responses. Children whose epilepsy appeared before age 6 years had reduced ability to change behavioral strategies. Frontal epileptic activity alone can cause selective frontal deficits, the severity and nature of which are related to side, seizure frequency, and age of epilepsy onset. These findings require confirmation on larger series of selected children.
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PMID:Neuropsychologic effects of frontal lobe epilepsy in children. 1250 41

This paper deals with a patient with the Frontal Arousal Rhythm (FAR), a rare rhythmic pattern usually seen in young children awakening from sleep, with a history of seizures. In this patient, subtle clinical changes were observed on the video during the pattern, consisting of a sequence of brief eye lid flutter, chewing, increased inspiration and upper lip quivering. This exact sequence was seen on three successive occasions lasting for 6,9, and 10 sec. The conclusion is the FAR is not just a sign of seizure disorder, but is actually an ictal pattern.
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PMID:The frontal arousal rhythm (FAR) is an ictal pattern: a case report. 1251 46

Frontal intermittent rhythmic delta activity is associated with encephalopathy, and temporal intermittent delta activity is associated with epilepsy, but the importance of OIRDA (OIRDA) is less well defined. The authors reviewed retrospectively EEGs and medical records of 77 patients with OIRDA to determine whether they had epilepsy, acute encephalopathy, or another diagnosis. They compared the incidence of epilepsy in this population with a control group of 77 patients referred for EEG, matched for age, gender, and year of EEG. OIRDA was most commonly generalized, high amplitude, saw toothed, and reactive to eye opening, and with mean frequency of 2.89 +/- 0.50 Hz. Mean age was 8.1 +/- 4.5 years. Seventy-six of 77 patients were <or= 18 years old. Seizures were present in 69 OIRDA patients but only 41 control subjects (P < 0.0001). OIRDA compared with control subjects had more patients with GTCs (34 vs. 10; P < 0.0001) and absence seizures (25 vs. 6; P < 0.0001), but an equal number had partial seizures (30 vs. 27). Only one OIRDA patient had acute encephalopathy. OIRDA patients with seizures were younger (7.6 +/- 4.7 years vs. 12 +/- 6.9 years; P < 0.01) and more likely to evolve to spike-wave activity compared with OIRDA patients without seizures. OIRDA is present almost exclusively in children and is associated with epilepsy but not acute encephalopathy. OIRDA has clinical importance distinctly different from frontal intermittent rhythmic delta activity.
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PMID:Clinical correlation of occipital intermittent rhythmic delta activity. 1268 56

Among new researches bearing on cerebral palsy are the growth of brain cells in tissue cultures for experimentation; the use of polysaccharides to prevent the formation of a glial barrier to nerve growth after injury; observation of changes in reactions of neurons at various stages of development; the finding of hypernatremia and hyperchloremia in lesions of the frontal lobe and the thalamus; stimulation of cerebral blood flow by injection of sodium bicarbonate and retardation with ammonium chloride; and studies of serial sections of brains of palsied children who died. Study of development in the early months of life has made possible the detection of significant abnormalities in behavior early in life. Loss of hearing may be tested in very young children by measuring minute variations in electrical resistance of the skin upon auditory stimulation of the sympathetic nervous system. Conditions which have been described as having been confused with cerebral palsy are dislocation of a cervical vertebra, hereditary spastic paraplegia, transverse myelopathy, injury to the spinal cord or cauda equina by anomalous growths of the spine, and also encephalitis and meningitis. Sedation has proved a valuable adjunct to electroencephalographic study of cerebral palsy. Better criteria for abnormality in the young child should be determined and the application of them more clearly standardized. Simple exercises are useful for early training of palsied children to stimulate development. "Crossed laterality"-the dominant eye being contralateral to the preferred hand-has been counteracted by special training with great success in eliminating emotional and behavior problems and accelerating development.Recent studies indicate that only 50 per cent of cerebral palsy patients have normal or better intelligence. Subluxation of the hip joint, a common deformity associated with cerebral palsy, can sometimes be corrected by operation if detected at an early stage. Radical ablation of epileptogenic foci in the cortex is also being done in young patients if drug control of seizures fails. Frontal topectomy, cingulate gyrectomy or prefrontal labotomy may be advisable in cases in which proper response to drug therapy is not obtained. Improvement in behavior as well as control of seizures may follow the use of Benzedrine,(R) Dexedrine,(R) Dilantin(R) sodium, Mebaral(R) and phenobarbital. Alcohol, paraldehyde and chloral hydrate have been effective as relaxants.
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PMID:What's new in cerebral palsy. 1310 11

The neuropsychological assessment is an essential part of the clinical work-up of patients suffering from pharmaco-resistant epilepsy. The aim of the present article is to give an overview of the assessment with regard to the functions tested, the techniques employed and the factors influencing the interpretation of the results. In the first part of the article, the role of the neuropsychological evaluation is discussed in relation to other methods of clinical investigation, such as EEG, brain imaging techniques and sodium amytal exploration, all of which intend to identify the localization (region and laterality) of the epileptogenic focus. This is particularly important for patients slated for epilepsy surgery. In addition, the neuropsychological exam aims to determine the extent of the deficits in various cognitive and sensori-motor domains by taking into account the structural and/or functional reorganization that may have taken place and the compensatory mechanisms that are available to the patient. In this context, the effect of various factors influencing the mental and emotional functioning of the patient, such as the age at onset and duration of the epilepsy, the presence of a structural lesion, the type and number of anticonvulsant drugs, the personality and the adaptability of the patient must be considered. In children, the effect of recurrent seizures may be more devastating since these risk to interfere with normal brain development. On the other hand, the greater plasticity of the immature brain provides a larger window in which compensation can take place. Evidence suggests that attentional processes are affected in all types of epilepsy. Furthermore, the antiepileptic medication may have a deleterious effect on the cognitive and emotional status of the patient, particularly in patients with pharmaco-resistant epilepsy who are usually taking a combination of anticonvulsant drugs. The second part of the article presents localization-specific neuropsychological impairments and the tests most suited to reveal these deficits. Thus, in temporal lobe epilepsy, memory functions are more affected than in other types of partial epilepsy, whereas intellectual functions are usually preserved. However, recent studies cast some doubt on the prevailing view that left-hemisphere foci are associated with verbal memory deficits only and that right-hemisphere foci solely affect visuo-spatial memory. The dichotomy appears to be more subtle, especially in patients with a long-standing seizure history. Frontal foci produce deficits in motor coordination, attention, working memory and executive functions. These deficits appear to be more pronounced in children than in adults. Few studies have explored the neuropsychological consequences of parieto-occipital foci given that this type of epilepsy is relatively rare. The neuropsychological profile of the patient should guide healthcare providers to implement the necessary remedial measures to facilitate the patient's social integration and to improve his quality of life.
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PMID:[Neuropsychological profile of intractable partial epilepsies]. 1533 60

Frontal ataxia may be the result of a unilateral frontal lesion. In this report three cases are presented with ataxia due to right frontal lesions. One case concerns a boy presenting with an unsteady gait and titubation of the trunk, mimicking developmental disequilibrium and with complex partial seizures. It proved to be caused by a small right-sided cavernoma in the middle frontal gyrus. After surgical intervention the symptoms and the seizures disappeared. Two subsequent cases concern teenage patients presenting with headache after an ENT infection and on physical examination mild dysmetric function of the upper limbs and slight disequilibrium, due to right-sided frontal lobe abscesses. After neurosurgical and antibiotic therapy the symptoms were relieved. The frontal origin of ataxia should be considered in children presenting with a "cerebellar syndrome". Frontal gait disorders consist of a clinical pattern of different gait disorders. The syndrome has been mentioned in the literature under different names. Our patients show signs compatible with the term frontal disequilibrium, a clinical pattern of frontal gait disorder. This assumes walking problems characterized by loss of control of motor planning, leading to imbalance. Remarkably, frontal ataxia may mimic developmental delay as demonstrated in the first case and may be the leading mild symptom in extensive frontal lobe damage as demonstrated by the two other cases. We suppose that frontal ataxia is the result of a disturbance in the cerebellar-frontal circuitries and an impairment of executive and planning functions of the basal ganglia-frontal lobe circuitry.
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PMID:Frontal ataxia in childhood. 1562 46


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