Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: DrugBank:BIOD00035 (CSF)
 30,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fifteen patients with a variety of myoclonic syndromes were studied clinically, pharmacologically, and physiologically. CSF tryptophan, 5HIAA, and HVA were also measured. Of these patients, 8 were improved to varying degrees by therapy with 5HTP, tryptophan in combination with MAOI (but not tryptophan alone), and clonazepam. This group included 6 cases of post-anoxic myoclonus, one case of post-traumatic myoclonus and one undiagnosed case of non-progressive focal myoclonus and epilepsy. In this group low levels of CSF 5HIAA were found compared to non-responsive cases and controls. Two cases of dysynergia cerebellaris myoclonica, 2 cases of undiagnosed aetiology, 2 cases of essential myoclonus, and one case of palatal myoclonus failed to respond to drug therapy. However, even amongst the responsive group the improvement varied. The most dramatic responses were seen in those patients in whom physiological study suggested that myoclonus was mediated by brain-stem structures. Less dramatic responses were seen in patients in whom the myoclonus appeared to originate from cortical structures. The neurochemical basis of myoclonus responding to 5HT precursors and clonazepam is discussed. It is suggested that such myoclonus arises from a relative hypoactivity of the 5HT neuronal system which results in a release of abnormal responses to sensory stimuli which characterize this type of myoclonus.
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PMID:Clinical, biochemical, and physiological features distinguishing myoclonus responsive to 5-hydroxytryptophan, tryptophan with a monoamine oxidase inhibitor, and clonazepam. 41 60

Twenty-one late-juvenile rhesus monkeys were rendered profoundly hypotensive for 0-, 15-, or 30-minute periods by means of infusion of trimethaphan camsylate. Blood pressure was then restored to prehypotensive levels with phenylephrine infusions. Respiratory gas tensions and pH of arterial blood were maintained within their normal limits throughout experimental and recovery periods. Animals either recovered and showed no sequelae or diet 12 to 48 hours later of cardiorespiratory difficulties, often accompanied by brain swelling. Brain injury and death occurred in 64% of cases when arterial blood pressure was maintained at 25 mm Hg for up to 30 minutes. Multifocal myoclonus, depressed electroencephalographic activity, rises in cisternal cerebrospinal (CSF) pressure, respiratory depression, and characteristic changes in serum and cisternal CSF glucose followed episodes of controlled hypotension. Hypoxia and acidosis occurring during insult or recovery periods rather than hypotension itself probably account for neuropathological sequelae described by others.
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PMID:Effects of hypotension on rhesus monkeys. 116 51

Norrie disease is a rare X-linked recessive disorder characterized by blindness from infancy. The gene for Norrie disease has been localized to Xp11.3. More recently, the genes for monoamine oxidase (MAOA, MAOB) have been mapped to the same region. This study evaluates the clinical, biochemical, and neuropsychiatric data in an affected male and 2 obligate heterozygote females from a single family with a submicroscopic deletion involving Norrie disease and MAO genes. The propositus was a profoundly retarded, blind male; he also had neurologic abnormalities including myoclonus and stereotopy-habit disorder. Both obligate carrier females had a normal IQ. The propositus' mother met diagnostic criteria for "chronic hypomania and schizotypal features." The propositus' MAO activity was undetectable and the female heterozygotes had reduced levels comparable to patients receiving MAO inhibiting antidepressants. MAO substrate and metabolite abnormalities were found in the propositus' plasma and CSF. This study indicates that subtle biochemical and possibly neuropsychiatric abnormalities may be detected in some heterozygotes with the microdeletion in Xp11.3 due to loss of the gene product for the MAO genes; this deletion can also explain some of the complex phenotype of this contiguous gene syndrome in the propositus.
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PMID:Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes. 130 52

Neuropathological study of the visual pathway from the retina to the occipital cortex in Creutzfeldt-Jakob disease (CJD) has been scarcely performed. In the present study, pathological involvement of the visual pathway was observed in a 54-year-old man with CJD. The patient had the onset of visual disturbances in December 1985. He subsequently developed progressive dementia, right hemiparesis, ataxia and dysarthria, and rapidly fell into decerebrate posture in February 1986. In March 1986, myoclonus appeared on the whole body and EEG revealed periodic synchronous discharges, while brain CT and CSF findings showed no abnormalities. Myoclonus was observed most frequently from May to October 1986, and then reduced gradually. Brain atrophy on CT started from April 1986, and was progressive till the end stage of the disease. He died in January 1988, and the total clinical course was about 24 months. Neuropathological examination revealed severe degeneration of the cerebral cortex and the white matter. In the cerebral cortex, marked loss of neurons, astrogliosis, and spongiform changes were observed. In the cerebral white matter, the destruction of myelin sheaths and axons were evident. The cerebellum showed prominent loss of granule cells. These findings are consistent with those of the panencephalopathic type of CJD. In the visual pathway, loss of ganglion cells and bipolar cells in the retina, mild demyelination of the optic nerve, neuronal loss in the lateral geniculate body, and severe degeneration in the visual cortex were observed. The present case suggests that the neuropathological investigation in the visual pathway from the retina to the occipital cortex is important for clarifying the pathological processes in the visual system in CJD.
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PMID:[A case of the panencephalopathic type of Creutzfeldt-Jakob disease with retinal involvement]. 142 8

Serial brain CT and 123I-IMP SPECT were examined in a case with Creutzfeldt-Jakob disease (CJD). A 61-year-old woman had the onset of progressive dementia and gait disturbance in December 1988. Then, she developed left hemiparesis and dysarthria, and rapidly fell into akinetic mutism within about 2 months. Brain CT, MRI, and CSF findings showed no definite abnormalities. In February 1989, myoclonic movements appeared in several parts of the body and EEG revealed periodic synchronous discharges. Myoclonus was observed most frequently from March to May 1989, and then reduced gradually. She died in June 1990, and the total clinical course was 19 months. Brain atrophy on CT started from about 4 months after the onset, and progressed subacutely. At the end stage of the disease, diffuse brain atrophy including the cerebellum and the brain stem on CT was observed. SPECT revealed decreased perfusion in the cerebral cortex from 5 months after the onset to the end stage, but; perfusion in the cerebellum and the basal ganglia was relatively kept even at the end stage of the disease. The results suggest that SPECT is a useful examination for presumption of the pathological processes in CJD.
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PMID:[Serial brain CT and 123I-IMP SPECT in a case with Creutzfeldt-Jakob disease]. 155 58

A retrospective study of 36 confirmed cases of subacute sclerosing panencephalitis (SSPE) was carried out to detect any variation in the clinical and EEG patterns previously described. There were 31 males and 5 females, aged 4 to 24 years. Onset of SSPE at or after 15 years of age was observed in 22.2% of cases. Rapid progression of the disease was observed in 52%. The first symptom was myoclonus in 61.6%, mental regression in 22.2% and generalised seizures in 11.1% of cases. Low positive measles antibody titres in the CSF were found in 36.1% of cases. EEG analysis revealed slow background in 69.2% and periodic complexes in 94.4% of cases. Atypical periodic complexes, focal abnormalities and paroxysms of bisynchronus sharp activity were also observed.
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PMID:Subacute sclerosing panencephalitis. 181 21

We describe 5 patients with a relapsing encephalopathy in association with Hashimoto's disease and high titers of anti-thyroid antibodies. The presentation is usually with a subacute onset of confusion, alteration in conscious level, and focal or generalized seizures. The relapsing course, association with myoclonus or tremulousness, and episodes of stroke-like deterioration are characteristic features. The long-term prognosis is favorable with steroid therapy, though additional immunosuppressive therapy may be required. Neurologic investigation typically shows a diffusely abnormal EEG, high CSF protein level without pleocytosis, and normal brain CT and cerebral angiogram. Isotope brain scan may show patchy abnormal uptake. Hashimoto's encephalopathy should be recognized as a definite neurologic entity and added to the list of CNS complications of thyroid disease.
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PMID:Hashimoto's encephalopathy: a steroid-responsive disorder associated with high anti-thyroid antibody titers--report of 5 cases. 199 66

A male infant developed left-sided myoclonus associated with low grade fever at 21 days of age. The course of pregnancy and delivery had been uneventful. Birth weight was 2,240g at 38 weeks of gestation. Physical examination at 26 days of age revealed hyperirritability and incomplete Moro reflex. EEG showed periodic discharges originating in the right central region. Initial brain CT at 26 days of age showed no apparent abnormality. In lumbar CSF protein was 173 mg/dl, and nucleated cells 328/mm3 (polynuclear cells 6 and mononuclear cells 322). Cultures of CSF for bacteria and viruses were negative. Although, the serum titers of CF antibody to herpes simplex virus (HSV) were 1:4 to 1:8 during hospitalization and those in CSF were not increased significantly, ELISA titers for IgG and IgM in serum and CSF rose significantly. The diagnosis of HSV encephalitis was made at 41 days of age. His myoclonus was well controlled with phenobarbital and clonazepam. He was treated with acyclovir and CSF findings returned to normal. On 2nd brain CT (39 days of age), calcification at thalamus, basal ganglia and right frontal lobe, which is extremely rare CT findings for HSV encephalitis, was noticed. His DQ at discharge was about 90. It is emphasized that the early diagnosis of HSV encephalitis can be made by ELISA and serial brain CT examinations, and that HSV encephalitis should be considered when calcification of thalamus and basal ganglia are detected on brain CT.
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PMID:[A case of neonatal herpes simplex virus encephalitis with calcifications of thalamus and basal ganglia]. 233

A case of inadvertent intrathecal injection of diatrizoate meglumine is presented. After myelography with 10 ml i.e. 6.5 g Angiografin, a 76-year-old man rapidly developed myoclonus, drowsiness and excessive metabolic acidosis. He died only a few hours later. Postmortem showed non-specific brain edema. RP-HPL-Chromatography confirmed high concentration of the contrast medium in CSF (6 mg/ml) which must have induced refractory central nervous dysregulation. The lethal effects of the misapplication of this agent on the nervous system are discussed.
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PMID:Fatal complications after myelography with meglumine diatrizoate. 233 38

A deficiency of dihydrobiopterin synthesis was found in a 27-year-old man with mild mental retardation, rigid spasticity, hyperreflexia, dystonia, myoclonus, and delay in the initiation of action, since age 10. Symptoms improved after sleep. Urine contained large amounts of neopterin and a trace of biopterin. Dihydropteridine reductase activity in red blood cells was normal. CSF levels of HVA and 5-HIAA were low. Tetrahydrobiopterin administration lowered serum phenylalanine and improved the symptoms.
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PMID:Dihydrobiopterin synthesis defect: an adult with diurnal fluctuation of symptoms. 243 82


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