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)

Spinal seizures in mice induced by handling following pretreatment with a subconvulsive dose of strychnine could be blocked by competitive N-methyl-D-aspartate (NMDA) receptor antagonists (D-, L-, DL-CPPene (CPPene = (E)-4-(3-phophonoprop-2-enyl)-piperazine-2-carboxylic acid), D-AP5 (D-2-amino-5-phophonovalerate)) and compounds acting at receptor-coupled modulatory sites (R-HA 966, ifenprodil). NMDA cation channel antagonists (MK-801, phencyclidine) however, resulted in ataxia, tremor and loss of righting. There are differences between NMDA antagonists acting via the receptor and the cation channel in this model of spinal seizure.
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PMID:N-methyl-D-aspartate receptor antagonists and channel blockers have different effects upon a spinal seizure model in mice. 153 94

We have previously described a family with a neurological syndrome comprising neurogenic muscle weakness, ataxia, retinitis pigmentosa, and variable sensory neuropathy, seizures, and mental retardation or dementia. This is associated with a heteroplasmic point mutation of mtDNA at bp 8993. The mother of a severely affected child underwent prenatal diagnosis in two further pregnancies. Analysis of chorionic villus samples showed a higher proportion of mutant mtDNA on both occasions, and this was reflected in the majority of fetal tissues, including brain and muscle. Prenatal diagnosis is a rational approach to the prevention of severe diseases caused by point mutations of mtDNA but is currently hampered by incomplete knowledge concerning the proportion of mutant mtDNA: its relationship to disease severity, how it may change during fetal and postnatal development, and its tissue distribution.
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PMID:Prenatal diagnosis of mitochondrial DNA8993 T----G disease. 153 98

We examined potential clinical and pathologic correlates of seizures among the 3,291 children in the Childhood Brain Tumor Consortium database. Fourteen percent had seizures prior to their hospitalization for a brain tumor. Among children who had a supratentorial tumor, seizures occurred in 22% of those less than 14 years of age. The prevalence of seizures increased to 68% of older teenagers. Among children with an infratentorial tumor, the prevalence of seizures was relatively constant at 6% over all age groups. The onset of seizures began more than one year prior to surgical tumor removal in over half of the children aged five or more with supratentorial tumors, significantly longer than for those of the same age with infratentorial tumors. Almost all children (98.9%) with an infratentorial tumor and seizures had at least one other symptom and more than three-fourths of them had at least three. Eighty-nine percent of children with a supratentorial tumor and seizures had at least one other symptom and more than one-half had at least three symptoms. Regardless of whether the tumor was above or below the tentorium, confusion or stupor and coma were more common in children with seizures than in children without seizures. Among children with supratentorial tumors, symptoms of a declining academic performance or an abnormality of personality, speech, walking, or sensation were significantly more frequent in children with seizures, while visual symptoms (other than visual loss or diplopia) and nausea or vomiting were less frequent. Among children with supratentorial tumors, those who had seizures were more likely to have paralysis of an arm, hand, or face, confusion or stupor, or coma and less likely to exhibit irritability, papilledema, optic atrophy, decreased visual acuity, pupillary abnormalities, or abducens paresis. Among children with infratentorial tumors, those with seizures were significantly less likely to have truncal ataxia, but more likely to experience confusion, stupor, or coma. In the supratentorial compartment, astrocytoma (nos), protoplasmic astrocytoma, anaplastic astrocytoma, and ependymoma were more frequently associated with seizures than was craniopharyngioma. No infratentorial tumor type was more or less likely to be associated with seizures. All common tumor types that were represented in both the supratentorial and the infratentorial compartment except astrocytoma (nos) were associated with significantly greater rates of seizures when located in the supratentorial compartment. The tumor location with the highest incidence of seizures was, as expected, the superficial cerebrum. More than 40% of the children with such tumors had seizures.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Epidemiology of seizures in children with brain tumors. The Childhood Brain Tumor Consortium. 154 79

Chronic intoxication of phenytoin (PHT) is a well known cause of cerebellar atrophy or irreversible cerebellar ataxia. Little attention, on the other hand, is paid for acute PHT intoxication because its clinical signs are believed to be reversible. We here report a patient with acute PHT intoxication, which resulted in irreversible cerebellar ataxia with radiologically definite cerebellar atrophy. A 39-year-old man admitted to our hospital because of cerebellar ataxia and confusional state. He had been treated with PHT for convulsive seizures after receiving craniotomy for left parietal brain abscess 9 years before. The concentration of his serum PHT had been 4 to 7 micrograms/ml because he had frequently omitted taking drug, and the dose of PHT had been increased to 600 mg/day one year before. He had admitted to another hospital 2 months before for left Bell's palsy and had been obliged to take drug regularly. Cerebellar signs and confusion had gradually developed for 7 weeks. On admission to our hospital, he was awake but in severe confusional state with slurred speech and nystagmus. His serum PHT was 86 micrograms/ml, which returned to therapeutic range 2 weeks after the discontinuation of PHT. His consciousness normalized and nystagmus disappeared. However, slurred speech continued and neurological examination revealed postural tremor and severe limb ataxia. During the subsequent 10 months, his cerebellar signs showed minimal improvement. Computed tomographies of his brain on 3rd and 5th month after the onset of his cerebellar dysfunction showed the definite cerebellar atrophy which had not been noted on the CTs 7 months before and 7 weeks after the onset.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Cerebellar atrophy and persistent cerebellar ataxia after acute intoxication of phenytoin]. 156 34

An 18-year-old Hispanic female developed symptoms of a Histoplasma capsulatum infection at 9 1/2 years of age. Initial problems of ataxia and hydrocephalus were followed by seizures and a cranial nerve palsy which developed over several years. T1-weighted cranial magnetic resonance imaging studies revealed numerous high-signal lesions; subsequently, signs of multisystem dissemination developed. Treatment included ventriculoperitoneal shunting, corticosteroids, amphotericin B, and a new antifungal agent, fluconazole, which was responsible for marked improvement.
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PMID:Chronic progressive CNS histoplasmosis presenting in childhood: response to fluconazole therapy. 158 Sep 61

We reported 9 cases of primary Sjogren syndrome (SS) who were complicated with nervous system involvement. All were women. Age between 24 to 58 years old. Their clinical symptoms of the nervous system varied widely, 7 of them manifested with the involvement of central nervous system, the main features were in case 1 bouts of seizures, case 2 multi-level damage of the brain and spinal cord which was similar to multiple sclerosis, case 3 recurrent hemiplegia caused by cerebral thrombosis then fatal vascular hemorrhage, case 4 sudden hemiplegia, case 5 persistent psychological disturbance, case 6 cranial neuropathy of V and VII, case 9 multi-focal symptoms of ataxia, myelopathy and transient blindness. 5 of the 9, case 3, 6-9 all appeared with the symptoms of peripheral neuropathy, case 7 also complicated with carpal tunnel syndrome. 4 of the 9 cases also complicated with renal tubular acidosis and/or chronic active hepatitis and/or fibrosing alveolitis and/or thrombocytopenic purpura and/or myositis. No differences of the positivity of autoantibodies was observed between those with or without nervous system involvement.
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PMID:[The manifestations of the nervous system in primary Sjogren syndrome]. 158 41

A 50-year-old black man with steroid-dependent stage IV sarcoidosis and a prior seizure attributed to neurosarcoidosis had progressive disorientation, ataxia, cranial neuropathies, and increased dyspnea. Neuroradiologic evaluation showed a ring-enhancing lesion in the left basal ganglion causing a mass effect. Craniotomy yielded purulent material that grew a pure culture of Listeria monocytogenes. He responded well to antibiotic therapy.
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PMID:Listerial brain abscess in long-standing sarcoidosis. 158 11

A 46 year old woman had a relapsing-remitting course of hemiparesis, disorientation, paraparesis and seizures, followed by progressive dementia, spasticity and ataxia. Computed tomography at onset showed a parietotemporal hypodense area with diffuse mottled enhancement obliterating the lateral ventricle. Subsequent scans demonstrated symmetric periventricular non-enhancing hypodensities, progressive ventricular enlargement and atrophy. Adult metachromatic leukodystrophy was diagnosed on the basis of low leukocyte arylsulphatase A level and metachromatic material accumulation at neural nerve biopsy.
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PMID:Adult metachromatic leukodystrophy with an unusual relapsing-remitting course. 158 77

The insect repellent DEET and the structurally related herbicide diphenamid both cause ataxia associated with a spongiform myelinopathy largely confined to the cerebellar roof nuclei. This local myelinopathy was accompanied by the formation of neuronal cytoplasmic clefts and was produced by a single dose of 1 to 3 g/kg N,N-diethyl-m-toluamide (DEET). These dose levels also produced a severe and often fatal prostration and clear electrophysiological signs of prolonged suppressed seizure activity. Diphenamid produced an identical myelinopathy after doses of 0.8 to 1.5 g/kg but without the severe prostration, suppressed seizures, or neuronal clefts. The effects of diphenamid were shown to be reversible over 3 to 7 days by neuropathological, motor, and auditory evoked response indices. Both compounds caused characteristic changes in auditory evoked response which may be useful in clinical diagnosis. Six other alkyl amides, two of which produce signs of CNS excitation, failed to produce myelinopathy at the maximum tolerated doses. Our findings show close parallels with a number of human cases of DEET poisoning and indicate that other amides, like diphenamid, also pose a potential hazard.
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PMID:A comparison of the acute toxicity, neuropathology, and electrophysiology of N,N-diethyl-m-toluamide and N,N-dimethyl-2,2-diphenylacetamide in rats. 160 Dec 13

Wolfram syndrome is an autosomal recessive disorder beginning in childhood that consists of four cardinal features: optic atrophy, diabetes mellitus, diabetes insipidus, and neurosensory hearing loss. Aside from these features, the clinical picture is highly variable and may include other neurologic abnormalities such as ataxia, nystagmus, mental retardation, and seizures. We present two unrelated patients with Wolfram syndrome, both of whom had the four cardinal features and several other neurologic abnormalities. MRIs showed widespread atrophic changes throughout the brain, some of which correlated with the major neurologic features of the syndrome.
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PMID:Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging. 160 50


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