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)

The response of myoclonus to oral and intravenous L-5-hydroxytryptophan (5-H.T.P.) in combination with a peripheral decarboxylase inhibitor (carbidopa) and to clonazepam has been examined in 9 patients. Moderate improvement or complete cessation of myoclonus followed treatment with one or both of these regimens in 5 patients, 1 of whom also responded to the concurrent administration of L-tryptophan and a monoamineoxidase inhibitor. The remaining 4 patients were at best only slightly improved by either 5-H.T.P. or clonazepam. The responsive group consisted of 3 patients with a history of anoxia, 1 patient with non-history of severe head injury, and 1 patient with non-progressive focal myoclonus and epilepsy. This group had low levels of 5-hydroxyindole acetic acid in the lumbar cerebrospinal fluid. It is suggested that 5-H.T.P. plus carbidopa, L-tryptophan plus a monoamine-oxidase inhibitor, and clonazepam may all act by elevating brain levels of serotonin (5-H.T.) and that some human myoclonic syndromes may be specifically related to a cerebral deficiency of 5-H.T.
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PMID:Manipulation of brain serotonin in the treatment of myoclonus. 5 Dec 40

A 14-year-old female with epilepsia partialis continua was explored stereo-electroencephalographically (SEEG). SEEG, EEG and EMG were recorded synchronously on a 32-channel machine and stored on magnetic tape for off-line analysis. The beginning of the myoclonus was used as trigger for the analysis of the intracerebral activity, which was analysed by averaging. Thereby the generating potentials of the jerks became evident. They had different maxima and latencies relative to the facial and hand muscles: that for m. orbicularis oculi was located in the precentral gyrus, the beginning of its positive deflection was 17 msec earlier than the muscle action potential; that for the thenar muscles had a latency of 24 msec, appeared at first in the premotor cortex and with a slight delay, but with greater amplitude in the corona radiata and capsula interna. Stimulation of the lateral area 4 elicited myoclonus which corresponded to the spontaneous one in distribution and latency. Stimulation of the thalamic VL nucleus had no effect. During deep sleep the frequency of the myoclonus was diminished. REM sleep was preceded and followed by a definite increase of jerking. The pattern, topography and latency of the generating potentials in waking and sleeping were very similar. In this way quantitative evidence of the neocortical origin of Epc is given and therefore a precise delineation of the epileptogenic focus.
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PMID:Quantitative analysis of intracerebral recordings in epilepsia partialis continua. 7 22

Two vermisectomized photosensitive baboons exhibited two different types of myoclonus, one induced by intermittent light stimulation (ILS) and the other occuring "spontaneously". The characteristics of these two types of myoclonus are described from a clinical and from an ECoG point of view. Myoclonus induced by ILS (ML) started at the eyelids and secondarily invaded the face and body; it was always preceded by frontorolandic spike-waves or polyspike-waves. The "spontaneous" myoclonus which followed vermisectomy (MV) was "massive", but involved firstly the trunk and secondarily the face and limbs; no ECoG paraoxysm accompanied this myoclonus, but we observed a parietal evoked potential of small amplitude, 10--15 msec after its onset. If MLs can be considered as consequences of the fronto-rolandic paroxysmal discharges, MVs seem to originate in the brain stem but appear similar to action myoclonus. This experimental situation showing two types of myoclonus resembles human hereditary degenerative syndromes (dyssynergic cerebellar myoclonus, progressive myoclonic epilepsy), without being exactly comparable. The conditions in which MVs were seen and their modifications during sleep and by different drugs are described. The relationships between MVs and MLs and myoclonic epilepsy are discussed.
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PMID:Myoclonus developing after vermisectomy in photosensitive Papio papio. 7 25

On the basis of 21 personal observations as well as those (82) from the litterature, it is concluded that the progressive myoclonic epilepsy with Lafora bodies (P.M.E.) constitutes a disease on its own. The clinical features are those described in the litterature observations and completed by some characteristics; the high frequency of visual symptoms (47 p. 100 personal cases); the relatively less bad evolution of epilepsy, perhaps in relation with use of modern drugs; the relatively moderate intensity of myoclonus which becomes complete only at the end of the evolution. From E.E.G. point of view, we can distinguish three periods: an initial one at the very onset of disease, who will show the same features as observated in primary generalized epilepsy, i.e. a well preserved background activity with superimposed generalized fast spikes and waves facilitated by the I.L.S. Then follows a period of evolutive E.E.G. (1-2 years after the onset of the disease) characterized by progressive slowing of the posterior background, enlargement of posterior slow activity and appearance of diffuse theta and delta activity. Simultaneously spikes and waves are taking less typical and bisynchronous aspect. Finally after 3 to 5 years from the onset there is a diffusely slow E.E.G. with superimposed fast multiple spikes. The E.E.G. findings in litterature usually refer only to this last period (stationary or terminal period). Occipital independent multiple spikes are frequently observed and could correlate with the visual symptoms observated in the Lafora disease. Some elements of differential diagnosis are given with respect to primary generalized epilepsy at the onset of the disease and later on with respect to dyssynergia cerebellaris myoclonica and to the progressive myoclonic epilepsy without Lafora bodies.
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PMID:[Lafora disease (author's transl)]. 9 98

In this report 52 patients meeting the criteria of centrencephalic myoclonic-astatic petit mal (10) at the beginning of petit mal are included. The results of clinical and encephalographic follow-up examinations are as follows: 1) The type reported here apparently has a petit mal course with peculiar characteristics, it therefore must be separated from Lennox syndrome: centrencephalic myoclonicastatic petit mal, pyknolepsia, bilateral myoclonus (impulsive petit mal). It should file under generalized primary petit mal epilepsy. 2) It is primarily defined by its EEG marker: "centrencephalic" EEG pattern (irregular and/or regular spike-wave groups, photosensibility and abnormal theta- and/or delta-rhythm). Rarely (33%) minor cerebral organic lesions as additional pathogenetic factors are uncovered by clinical and electroencephalographic examinations. 3) The clinical picture is characterized, aside from myoclonic and/or astatic seizures, by frequent absences (80%), rare tonic seizures (6%), petit mal status (25%) and mostly generalized grand mal seizures (62%). 4) There are changes of the course of the disease to Lennox syndrome (N = 6) in in children suffering from marked cerebral organic lesions at the onset of petit mal and in development of severe epilepsy. 5) Least favorite markers with respect to prognosis are concomitant grand mal seizures (p = 0,05), petit mal status (p = 0.008), additional 2/sec spike wave-pattern (spike wave Variant) in the EEG (p = 0.002) and previous seizures with focal signs. Favourite outcome of epilepsy are frequently connected to missing cerebral organic lesions (p = 0.05).
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PMID:[Centrencephalic myoclonic-astatic petit mal. Clinical and electroencephalographic long-term follow-up study in 52 patients (author's transl)]. 9 76

Clobazam, an anxiolytic 1,5-benzodiazepine, has been evaluated as an anticonvulsant in 2 animal models. In mice showing sound induced seizures, clobazam, 1--4 mg/kg, i.p., blocked seizure responses for 1--2 hr. In Senegalese baboons Papio papio showing photically induced myoclonus or seizures, clobazam, 2--12 mg/kg, i.v., totally prevented such responses for up to 6 hr. In baboons pretreated with allylglycine, 170--185 mg/kg, a similar but briefer protection was induced by clobazam. Neurological toxicity was not prominent (transient, slight nystagmus after clobazam, 2--6 mg/kg; muscular hypotonia after clobazam, 12 mg/kg). The possibility that 1,5-benzodiazepines are superior to 1,4-benzodiazepines in the therapy of epilepsy requires clinical investigation.
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PMID:Anticonvulsant action of a 1,5-benzodiazepine, clobazam, in reflex epilepsy. 9 17

The anticonvulsant potency and neurological toxicity of two new catalytic inhibitors of GABA-transaminase have been assessed in acute experiments in baboons with a natural syndrome of photic epilepsy. gamma-Acetylenic GABA, 160--200 mg/kg, or gamma-vinyl GABA, 450--950 mg/kg, intravenously, gave complete protection against generalised myoclonus or seizure responses induced by photic stimulation (in baboons without or with priming with subconvulsant doses of allylglycine). The protection became maximal 1--3 h after injection, and continued for 7--24 h. Signs characteristic of the acute toxicity of anticonvulsant drugs (nystagmus and ataxia) were not seen. The potential use of these compounds in human epilepsy deserves investigation.
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PMID:Blockade of epileptic responses in the photosensitive baboon, Papio papio, by two irreversible inhibitors of GABA-transaminase, gamma-acetylenic GABA (4-amino-hex-5-ynoic acid) and gamma-vinyl GABA (4-amino-hex-5-enoic acid). 10 Aug 12

Electroencephalographic studies were carried out in 30 patients with various kinds of myoclonus. It was confirmed that the technique of jerk-locked averaging with a backward averaging program was useful for detecting cortical spikes in association with the spontaneously occurring myoclonus, which are not recognized on the convential polygraph, and for evaluating the temporal and topographical relationship between the spike and the myoclonus. By this technique, cortical spikes were shown to precede the myoclonus of a contralateral upper extremity muscle by 7 to 15 ms ith progressive myoclonic epilepsy showed a high amplitude somatosensory evoked potential (SEP) in response to electrical stimulation of the median nerve. The N33 component of this high amplitude SEP was found to be similar to the myoclonus-related cortical spike in their wave form, time relationship and topographical distribution, suggesting an involvement of similar physiological mechanisms in the genesis of both phenomena. Myoclonus in these patients is compatible with "pyramidal" or "cortical loop reflex" type.
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PMID:Electroencephalographic studies myoclonus. 10 Dec 79

Two new 1,5 benzodiazepines have been evaluated acutely as anticonvulsants in baboons, Papio papio, with photosensitive epilepsy. BAU 426 (8-Chlor-6-[2-chlorphenyl]-4H-s-triazolo-[4,3-a] [1,5-benzodiazepin-5-[6-H]on) and BAU 500 (analogue of BAU 426 with [2-trifluor methylphenyl] substituted for [2-chlorphenyl]), 0.1--5.0 mg/kg, were administered i.v. to baboons with and without priming with D,L allylglycine. BAU 426 or BAU 500, 0.1--0.2 mg/kg, produced partial or transient protection against photically induced myoclonus or epileptic responses. Complete protection, in the absence of signs of sedation or acute neurological toxicity, was seen 1--4 h after 0.5--2 mg/kg. EEG changes typical of benzodiazepines were seen for 1--3 h and clinical signs of sedation with some muscular hypotonia were evident for 1 h after either drug, 5 mg/kg. Clinical trials are required to determine if these compounds are superior to 1,4 benzodiazepines as anticonvulsants.
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PMID:Anticonvulsant activity in photosensitive baboons, Papio papio, of two new 1,5 benzodiazepines. 10 5

The syndrome of myoclonus, epilepsy, and mental deficiency is observed in a number of distinct nosologic entities differing with respect to clinical course, (--) pathologic, and biochemical findings. Genetically, the heterogeneity within this group of disorders is shown by the occurrence of autosomal recessive and dominant forms with incomplete penetrance. In this paper we report on a sibship with at least four affected males suffering from progressive myoclonus epilepsy, ataxia, and mental deterioration. The syndrome is probably X-linked, as suggested by the maternal transmission and mild, variable symptoms in some female carriers. In a survey of the literature we have found another pedigree suggesting X-linked inheritance of this variant of progressive myoclonus epilepsy.
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PMID:Progressive myoclonus epilepsy. A variant with probable X-linked inheritance. 11 32


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