Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two brothers presented to us with a progressive myoclonic syndrome with slight cerebellar symptoms. Neurological examination disclosed moderate cerebellar signs and pale optic discs; asymmetric, asynchronous and arrhythmic myoclonus, an arrthesthesic deficit and no muscular weakness. EEG background activity was moderately slow with no irritative discharges. CT was normal in both cases. Intermittent photic stimulation increased the frequency of the myoclonic jerks, which became bilateral and synchronous, progressing to a generalized tonic-clonic seizure. EPs and MRI in one case were normal. Anticonvulsant drugs were ineffective. The diagnosis of mitochondrial encephalomyopathy was based on the finding, in muscle specimens, of thickened basement membranes with myofibrillary degeneration and increased number of mitochondria peripherally distributed and with a dense granular matrix and some vacuoles. The clinical and EEG data suggest a subcortical origin for this type of myoclonic syndrome.
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PMID:Non-epileptic myoclonus and mitochondrial encephalomyopathy. 261 13

Cortical and subcortical multiunitary activities (MUA) and EEG were simultaneously recorded in baboons rendered photosensitive by a subconvulsant dose of DL-allylglycine. Intermittent light stimulation (ILS) trains induce in those animals fronto-rolandic (FR) paroxysmal discharges (PDs, constituted as spikes and waves) and grand mal seizures. During the induction of FR PDs by ILS trains, the visual structures (occipital cortex, colliculi superioris, pulvinar) show a significant MUA increase which is not related to the PD spike or wave but is correlated to the flashes. The first structure showing bursts of MUA that frequently precede the PD appearance is the FR cortex. When PDs appear, the bursts are related to the spikes of PDs and are followed by an inhibition during the slow wave. The pontine and mesencephalic reticular formations and the facial nuclei are activated in bursts after the FR PDs have reached a certain amplitude. The thalamic nuclei ventralis lateralis, centrum medianum and lateralis posterior are activated only later, when the FR PDs have reached an even greater amplitude. It is suggested that the activation of visual structures is necessary for FR PD appearance. The secondary pontine and mesencephalic activation could reinforce that of the FR cortex and then the thalamus, and could determine the myoclonus observed in unparalyzed animals.
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PMID:[Analysis of the multi-unit activity of the cortex and subcortical structures during paroxysmal discharges and grand mal seizures in the photosensitive baboon]. 310 Nov 51

A cumulative review of case reports in the literature describing withdrawal reactions secondary to alprazolam is presented. In four of eight reports, the primary withdrawal manifestations were grand mal seizures. One case was characterized by painful myoclonus. In the remaining three cases, the major complications consisted of rebound anxiety with psychotic features. Despite tapering of the daily dosage according to manufacturer guidelines, a withdrawal syndrome was precipitated in three of the cases. As a result of alprazolam's atypical pharmacodynamic profile, the issue is raised as to whether alprazolam is pharmacologically cross-tolerant with other benzodiazepines.
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PMID:A review of alprazolam withdrawal. 353 83

The purpose of this paper is to draw attention to the wide range of clinical motor phenomena which may be caused by abnormal sensorimotor cortical discharge. Eleven selected patients with cortical myoclonus are described. In all cases the brief muscle jerks appeared to involve cerebral cortical mechanisms, for there were enlarged cerebral evoked potentials to somatosensory or visual stimuli and (in 5 of the 6 cases investigated in this way) a time-locked cortical event preceded spontaneous or action-induced jerking. In some patients, cortical myoclonus occurred only in response to a variety of afferent inputs (cortical reflex myoclonus). In others, the myoclonus occurred only during movement, when cortical mechanisms were activated voluntarily (cortical action myoclonus), or the cortical discharge occurred spontaneously (spontaneous cortical myoclonus and epilepsia partialis continua), and even spread to cause focal motor epilepsy (Jacksonian seizures). Some patients showed combinations of stimulus sensitive and spontaneous myoclonus, epilepsia partialis continua, focal motor epilepsy and generalized grand mal seizures. Such variations probably represent subtle differences in the site of abnormality in sensorimotor cortical neuronal mechanisms.
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PMID:The spectrum of cortical myoclonus. From focal reflex jerks to spontaneous motor epilepsy. 391 83

Forty-three patients affected with Alzheimer's disease were identified in a kindred of Italian origin, emigrated in part to the U.S.A. and France. Thirteen were known by history, 21 by medical record, and 9 by personal examination, of whom 5 were confirmed histopathologically. The clinical picture was fairly uniform: the first symptom was memory loss beginning around age 40. Psychotic-like symptoms often followed, with rapid evolution into profound dementia, and death around age 50. Akinesia was prominent at a late stage, often with myoclonus. Grand mal seizures sometimes occurred, with occasional interictal spike and wave discharge; repetitive paroxystic periodic discharges were never recorded. A genealogical study, as far as possible free from line bias, has been conducted mainly by analysis of municipal records. 1 435 subjects in 10 generations, linked to affected subjects through ascent/descent or marriage, were listed in a computer file; the corresponding genealogical tree or selected part thereof are generated by computer. Application of Bayesian techniques to demographic data makes possible an estimation of disease probability in subjects for which no clinical data were available: such an estimate was confirmed by the later discovery of a living patient in descent of a subject with 0.7 estimated disease probability. No patient was found in descent from an inbred union known as such. Patients are the only transmitters. The sex ratio is not significantly different from 1. There is no detectable maternal effect. The segregation ratio, as calculated from extensively known sibships, lies in the range 0.65 to 0.89; the lower value itself is significatively higher than the 0.5 value expected in an autosomal dominant monogenic Mendelian transmission. An environment factor is ruled out by the diversity of locations and circumstances in kindred members. Such a kindred may represent an useful model for fundamental studies in Alzheimer's disease and senile dementia of the Alzheimer type.
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PMID:[Alzheimer's presenile dementia transmitted in an extended kindred]. 400 7

The degenerative type of progressive myoclonus epilepsy (PME) is a hereditary disease with grand mal seizures, stimulus sensitive myoclonus, characteristic EEG and mental deterioration in the late stage. GABAergic antiepileptic drugs are the most effective ones in this disease, with an unknown etiology. In this study, the GABA concentration in the CSF of 15 PME patients was measured and compared with values of sex- and age-matched epileptic controls. It was correlated with the concentrations of 5HIAA and HVA in the CSF, which were determined earlier from the same patients. The GABA concentration in the PME patients was statistically significantly decreased, to about 75% of that of the epileptic controls. It correlated with HVA and 5HIAA concentrations in the PME patients, but not in the epileptic controls. It is unknown whether these findings are related to the primary cause of PME or whether they are only secondary, owing to a loss of respective neurons or synapses.
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PMID:Decrease of GABA in the cerebrospinal fluid of patients with progressive myoclonus epilepsy and its correlation with the decrease of 5HIAA and HVA. 618 74

Progressive myoclonus epilepsy without Lafora's bodies (PME) is a rare inherited disease found predominantly in Finland, where the incidence is one case per 20,000 to 30,000 children. This fatal disease is characterized by normal early development, progressive stimulus-sensitive myoclonus, ataxia, dysarthria, occasional grand mal seizures, and loss of cerebellar Purkinje cells. Concentrations of gamma-aminobutyric acid in the CSF averaged 89 +/- 10 pmole/mL (mean +/- SE) in eight patients with PME, compared with 135 +/- 18 pmole/mL in ten control patients. The concentrations of adenosine (16 pmole/mL v 17 pmole/mL), inosine (560 pmole/mL v 570 pmole/mL) and hypoxanthine (6.2 nmole/mL v 6.1 nmole/mL) were the same in patients with PME and in controls.
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PMID:Concentrations of gamma-aminobutyric acid and adenosine in the CSF in progressive myoclonus epilepsy without Lafora's bodies. 641 68

Adverse neurobehavioral reactions have not been emphasized as a complication of metrizamide myelography. We encountered six such reactions in approximately 250 metrizamide myelograms. All reactions followed either cervical myelography or panmyelography via lumbar puncture. We also treated a single case of tonic-clonic seizure after intracranial spill of metrizamide in a patient without a history of seizure disorder, and a case of myoclonus following a thoracic metrizamide myelogram that showed a highgrade block. Metrizamide should not be used if an intrathecal block is suspected, or if the location to be studied makes intracranial spill difficult to avoid.
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PMID:Complications of metrizamide myelography. 682 54

Chlorambucil neurotoxicity was observed in two children treated for frequently relapsing minimal change nephrotic syndrome. In the first child the drug was overdosed. Myoclonic jerks were observed, followed by a generalized tonic-clonic seizure. Concomitant EEG abnormalities disappeared after discontinuation of therapy, but reappeared 6 months later without further seizures. In the second child chlorambucil treatment was started twice, but had to be interrupted each time; the first time because of sudden collapse, bradycardia and respiratory arrest, and the second time because of myoclonic jerks. EEG changes were limited to generalized slowing and improved after discontinuation of therapy. According to the literature chlorambucil neurotoxicity is found almost exclusively in children, after overdosage or in the nephrotic syndrome. Strict neurologic supervision of patients treated with this drug is recommended.
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PMID:Chlorambucil neurotoxicity: report of two cases. 741 Jan 14

We describe a patient with a longstanding paraplegia who developed spinal myoclonus on 3 different occasions spanning one year, once after an enhanced CT scan and twice after excretory urographies, one of which was also followed by a generalized tonic-clonic seizure. To our knowledge only one case of spinal myoclonus secondary to the administration of intravenous contrast material in a patient with a spinal arteriovenous malformation has yet been reported. Taken together, the findings in these cases suggest that spinal myoclonus following intravenous iodine administration is indicative of an underlying spinal cord lesion.
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PMID:[Spinal myoclonus secondary to the intravenous administration of iodine contrast media]. 747 10


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