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)

A 10-year-old boy with progressive paraparesis, personality change, and seizures had laboratory evidence of adrenal insufficiency. Pathologic study showed cerebral edema, but no loss of myelin. Notable pathologic changes were limited to the spinal cord, where the corticospinal and spinocerebellar tracts were demyelinated. Lipid analysis of the brain was normal apart from the finding that galactocerebroside contained a higher proportion than normal of alpha-hydroxy fatty acids. We suggest that this case represents a distinct disease, differing importantly from adrenoleukodystrophy. The underlying defect appears to be in the early enzymatic pathway before cholesterol synthesis, although it is also possible that the defect is at the cell membrane.
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PMID:Progressive spastic paraparesis and adrenal insufficiency. 97 4

A patient with progressive spastic paraparesis originally ascribed to multiple sclerosis developed recurrent encephalopathy and seizures. A diagnosis of HTLV-I-associated myelopathy/tropical spastic paraparesis was established prior to death. Autopsy confirmed chronic inflammatory myelopathy and active inflammation in the white matter of the temporal lobes.
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PMID:Recurrent encephalopathy and seizures in a US native with HTLV-I-associated myelopathy/tropical spastic paraparesis: a clinicopathologic study. 143 55

A single systemic administration of acromelic acid, a novel kainate analogue (kainoid), induces a series of characteristic behavioral changes in association with selective damage of interneurons in the caudal spinal cord in adult rats. When an effective dose of acromelic acid (5 mg/kg) was systemically administered, forced extension of hindlimbs with or without cramps appeared in all rats. In the course of the intensified hindlimb extension, 10 of 16 rats suffered from generalized convulsive seizures during which 6 rats died without apparent neuropathological change. Of 4 surviving rats that experienced seizures, two developed long-lasting spastic paraparesis which remained unchanged for at least 3 months, whereas the other two were normal in behavior on the days following the administration. In lower doses (less than 4 mg/kg), the rats transiently displayed forced extension of hindlimbs, and in a higher dose (5.5 mg/kg), all rats died during an attack of severe generalized convulsion. Neuropathological changes were observed only in the rats with persistent paraparesis, in which neuron damage was identified selectively in small interneurons in the lumbosacral cord. The morphological change of the degenerated spinal interneurons resembles that of degenerated hippocampal CA1 pyramidal cells seen after systemic administration of kainate. Large motoneurons, spinal roots, and white matter of the spinal cord were well preserved. Unlike the case of systemic administration of kainate, other structures in the central and peripheral nervous system and muscles were morphologically intact except the hippocampal CA4 and the stratum moleculare-lacnosum in which there were reactive astrocytes. The regional difference between kainate-induced and acromelate-induced neuron damage suggests that systemically administered acromelic acid, a kainoid, induces selective neuron damage through activating a particular kainate receptor subtype. The clinicopathological feature of the paraparetic rats resembles closely that of stiffman syndrome, a progressive human neurological disorder with selective loss of interneurons in the spinal cord.
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PMID:Acromelic acid, a novel kainate analogue, induces long-lasting paraparesis with selective degeneration of interneurons in the rat spinal cord. 157 22

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

Certain diseases do not consistently affect a single area of the nervous system and, in fact, may cause concomitant multifocal involvement. Depending on the area of the nervous system affected, these diseases may cause a wide spectrum of neurologic problems and therefore must be included in the differential diagnosis for most problems discussed previously. Diseases causing multifocal lesions should especially be suspected when there are concomitant neurologic deficits that cannot be localized to a single site. An example would be a cat with seizures and paraparesis without thoracic limb involvement, in which case separate lesions affecting the forebrain and thoracolumbar spinal cord would be suspected. Inflammatory neurologic diseases most commonly cause lesions at multiple sites and will be discussed here. These conditions frequently cause concomitant systemic disease. Additional disease categories that may cause multifocal lesions, and are somewhat more likely to result in strict neurologic disease, are discussed in Multiple Neurologic Deficits: Non-infectious Diseases (page 440).
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PMID:Multiple neurologic deficits. Inflammatory diseases. 180 64

A Phase I trial of 4-aminopyridine (4-AP) was carried out in 39 dogs referred to the veterinary teaching hospital with naturally occurring traumatic paraplegia or paraparesis. The rationale for the study was provided by the observation that 4-AP restores conduction in demyelinated nerve fibers in experimental spinal cord injury. Most injuries (77%) resulted from degenerative disk disease, occurring at or near the thoracolumbar junction, and producing chronic, complete paraplegia. Neurological examination of each dog was recorded on videotape before and at intervals after administration of 4-AP. The drug was administered systemically in total doses between 0.5 and 1 mg/kg body weight. Three areas of neurological status changed significantly at 15-45 minutes following administration of 4-AP: (a) striking improvements in hindlimb placing occurred in 18 animals; (b) increased awareness of painful stimuli to the hindlimb in 10 animals; (c) partial recovery of the cutaneus trunci muscle reflex of the back skin in 9 animals. These effects reversed within a few hours of administration. Other animals (36%) showed no change in neurological signs except a slight enhancement of hindlimb reflex tone. Significant side effects were seen in 6 dogs receiving higher intravenous doses, with elevation of body temperature and apparent anxiety, leading to mild seizures in 3 of the animals. These seizures were controlled with diazepam. The results indicate that conduction block may contribute significantly to functional deficits in closed-cord injuries and that potassium channel blockade may prove to be a valid, if limited approach to therapeutic intervention in chronic paraplegia and paraparesis.
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PMID:The effects of 4-aminopyridine on neurological deficits in chronic cases of traumatic spinal cord injury in dogs: a phase I clinical trial. 187 Jan 34

Congenital hyperargininaemia is a rare condition transmitted as an autosomal dominant trait. Following a one-year free interval, repeated vomiting, psychomotor regression and spastic paraparesis with talipes equinus progressively develop. The diagnosis, confirmed by arginine assays in blood and urine, is probably often missed. We report a case of homozygous arginase deficiency belatedly diagnosed at the age of 18 years, when treatment with sodium valproate (VPA) was instituted. This female patient presented with psychomotor regression since the age of 15 months and with paraparesis since she was 3 years' old. These symptoms rapidly became worse. At the age of 18 years, when she was bed-ridden, she was hospitalized for subintrant tonic seizures. EEG showed generalized, continuous spike-wave discharges at the rate of 3.5 c/s. Treatment with VPA was instituted. Five days later, she went into a state of stupor. Blood ammonia level was elevated at 362 mumol/l. VPA was discontinued, and this was followed by a regression of disturbances of consciousness and by a decrease in arterial ammoniaemia, although the ammonia levels remained high, fluctuating between 40 and 100 mumol/l. Several months after VPA treatment was interrupted, the patient had a second episode of stupor, and her ammoniaemia was 500 mumol/l. Serum amino acid chromatography showed hyperargininaemia at 501 mumol/l (N = 30-150 mumol/l). The diagnosis of arginase deficiency was confirmed by the rise of arginine in red cells, cerebrospinal fluid and urine and, above all, by the finding of a deeply depressed arginase activity in erythrocytes. In all cases of intolerance to VPA, arterial ammoniaemia should be measured after withdrawal of VPA, some time after the acute episode.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Late diagnosis of congenital argininemia during administration of sodium valproate]. 229 Oct 40

A 60-year-old white man presented with aphasia, seizures, paraparesis, and incontinence. His serologic and hematologic profiles were unremarkable. His cerebrospinal fluid showed pleocytosis, increased daily central nervous system IgG synthesis, increased myelin basic protein, and negative cytology and cultures. Cerebral computed tomography exhibited multiple areas of hypodensity but spinal computed tomography and myelography showed no abnormalities. Cranial and spinal magnetic resonance imaging revealed areas of increased signal on T2-weighted images. The use of gadolinium-pentetic acid on T1-weighted images delineated smaller areas of cortical enhancement with surrounding rim of decreased signal. Brain biopsy showed intravascular malignant cells positive for leukocyte common antigen and B-cell markers. The diagnosis was neoplastic angioendotheliomatosis (intravascular lymphomatosis). To our knowledge, this is the first report on the use of both cranial and spinal magnetic resonance imaging in this condition.
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PMID:Neoplastic angioendotheliomatosis. 237

T-cell lymphoma may involve the CNS as either a primary or secondary neoplasm. This report describes 8 patients with either primary or secondary T-cell malignancies in the CNS. Five patients presented with symptoms and signs of CNS disease that included seizures, visual impairment, cranial nerve palsies, sensory and motor deficits, gait ataxia, and paraparesis. Three of them had primary parenchymal CNS lymphoma, and 2 had epidural lymphoma that originated in adjacent bone marrow. Three patients were neurologically asymptomatic, but had leptomeningeal tumor and focal parenchymal infiltration at postmortem examination. Histologically, 4 lymphomas were large cell, 3 were mixed large and small cell, and 1 could not be classified by the working formulation for non-Hodgkin's lymphomas. The clinical and pathologic manifestations of T-cell lymphoma in the CNS may be diverse. This report demonstrates that neurologic abnormalities may be the presenting signs of either primary CNS or systemic T-cell lymphoma.
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PMID:T-cell lymphoma in the CNS: clinical and pathologic features. 278 32

Paired serum and cerebrospinal fluid specimens from 19 patients with SLE and central nervous system dysfunction were studied with respect to cerebrospinal fluid IgG index (a measure of intrathecal IgG synthesis), isoelectric focusing using immunoperoxidase staining techniques to detect oligoclonal IgG, and determination of the cerebrospinal fluid/serum albumin quotient (Q albumin) as a measure of blood-brain barrier integrity. Twenty-five patients without neurologic disease and 70 patients with a variety of non-SLE neurologic disorders were also studied for comparison. Of most interest was the observation that 42 percent of the patients with SLE had cerebrospinal fluid oligoclonal IgG, usually in association with elevation of the cerebrospinal fluid IgG index. In addition, two of the cerebrospinal fluid specimens that exhibited oligoclonal IgG also had increased titers of alpha-interferon. Q albumin was normal (under 9.0) in 12 of 13 patients with SLE, who had seizure, psychosis, or cranial neuropathy as principal central nervous system manifestations (mean +/- SD = 5.3 +/- 2.4), but was significantly elevated (mean +/- SD = 27.4 +/- 18.8, p less than 0.001) in five of six patients with diffuse, major central nervous system injury, for example, encephalopathy with coma, transverse myelopathy, paraparesis. Blood-brain barrier impairment was not correlated either with presence of circulating immune complexes or with other clinical or serologic evidence for extra-central nervous system disease activity. Taken together, the data suggest that, within the limitations of the techniques used, impairment of the blood-brain barrier in SLE may be secondary to the central nervous system lesion, rather than a result of systemic immune complex injury. In addition, substantial evidence is provided for an ongoing humoral immune response within the central nervous system in this disorder, which, in certain patients, may be associated with the production of intrathecal alpha-interferon.
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PMID:Intrathecal IgG synthesis and blood-brain barrier impairment in patients with systemic lupus erythematosus and central nervous system dysfunction. 683 7


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