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)

Three consecutive cases of Whipple's disease observed by us in recent years have involved neurologic symptoms, i.e. psychoorganic syndromes, gaze palsy, nystagmus, masseteric and pharyngeal myoclonus or papilledema. In one case mononuclear cells in the cerebrospinal fluid, most probably of ependymal origin, were loaded with periodic-acid-Schiff (PAS) positive granules. On treatment with antibiotics the neurologic signs cleared considerably or completely. The findings suggest (a) that neurologic involvement Whipple's disease may not be so uncommon as appears from the literature, (b) that examination of the spinal fluid with PAS staining may be helpful in the diagnosis of such cases, and (c) that neurologic involvement in Whipple's disease may also be amenable to treatment with antibiotics.
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PMID:[Neurological manifestations of Whipple's disease]. 6 10

5 patients with cerebral anoxia of various etiology had postanoxic coma with the syndrome of periodic synchronous and sterotyped myoclonus first mentioned by Lance and Adams. These authors observed action myoclonus as a sequel to this syndrome which is rarely survived. Most reports have dealt mainly with its bad prognostic significance. Although the localization of action myoclonus has much been discussed, and is still controversial, little attention has been paid to the possible localizing significance of its acute precursor syndrome. Most patients with this type of myoclonus (all in our series) present a lower pontine/upper oblongata syndrome. The distribution patterns of the jerks are constant, do not represent topographic but functional relationships showing innervation patterns which are presumably integrated in the vestibular system and upper oblongata reticular formation. Interval histograms show that the jerks, unlike those in subacute sclerosing panencephalitis, are not repeated at regular intervals. Several rhythms might be intermingled, or a rhythmic (physiological?) pacemaker could be modified by proprioception of the jerks. The latter possibility is supported by the observation that EEG discharges in one patient became rhythmic when the jerks ceased. The only other instance of rhythmicity was in a very special observation of continuous seesaw alternations of slow jerks of m. levator palpebrae sup., and tonic contractions of m. corrugator glabellae. Rhythmicity in this case had a 1:2 relation to heart rate indicating the nucleus tractus solitarii region as a possible site of origin of the impulses. Our observations indicate an upper oblongata origin for this type of myoclonus. Autopsies in 3 of our cases revealed widespread severe anoxic damage but nothing to add to the pathological localization.
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PMID:Periodic synchronous and stereotyped myoclonus with postanoxic coma. 6 98

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

The clinical course of a child with Krabbe's leukodystrophy was characterized by clinical seizures, startle myoclonus, and paroxysmal activity recorded by EEG. At autopsy in the fourth year, myelinated subcortical axons were destroyed, virtually completely. Despite isolation from major subcortical and interhemispheric connections, the cell and fiber pattern of the cortex appeared remarkably normal in routine histologic preparations. The normal range of pyramidal and stellate interneurons were also present in rapid Golgi impregnations. The dendritic arbors of pyramidal neurons appeared to be normally formed and were richly invested with spinous postsynaptic specializations. The near-normal morphology of neurons isolated in the neocortex by the myelinoclastic process illustrates the sustaining influence of local intracortical synaptic connections. Alterations of cortical neuronal circuits resulting from synaptic remodeling of local interneuronal connections may account for cortical hyperexcitability as seen in cases of leukodystrophy.
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PMID:The isolated human cortex. A Golgi analysis of Krabbe's disease. 8 46

The anatomical basis of palatal myoclonus and related rhythmic skeletal myoclonus is described. The most constant lesion is a special type of degeneration with hypertrophy of the olivary nucleus of the medulla oblongata, on the side opposite to the myoclonus when it is unilateral. This degeneration is usually secondary to a primary lesion located either in the ipsilateral (to the hypertrophied olive) central tegmental tract or in the contralateral dentate nucleus. To link these data, Trelles (1935, 1943) suggested a dentato-olivary pathway from the dentate nucleus to the contralateral inferior olive via the superior cerebellar peduncle and the central tegmental tract after crossing the midline. The existence of this pathway was demonstrated by Lapresle and Ben Hamida (1965-1971), first by showing a topistic relationship between dentate nucleus and contralateral inferior olive, then by delineating this pathway in the vicinity of the red nucleus at the crossing of the superior cerebellar peduncle and the central tegmental tract. The significance of these lesions with their ensuing symptoms is discussed. It is considered as a transsynaptic degeneration which probably reveals an archaic phenomenon, submerged but not lost through evolution.
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PMID:Rhythmic palatal myoclonus and the dentato-olivary pathway. 9 Jan 31

A case of adult type mucolipidosis with beta-galactosidase and sialidase deficiency is described. This patient, a woman aged 20, had mental retardation, macular cherry-red spots, corneal clouding, gargoyle-like face, cerebellar ataxia, myoclonus and convulsions beginning at the age of 14. Bony deformities, vacuoles in the peripheral lymphocyte and foamy cells in the bone marrow were also noted. Biopsy study of the sural nerve and vermiform appendix disclosed many vacuoles in almost every kind of cells, although the accumulated substance in these vacuoles could not be characterized histochemically or ultrastructurally. Deficient leukocyte beta-galactosidase and sialidase were confirmed. There was increased urinary sialoglycopeptide and increased siliac acid and hexosamine in the glycoprotein of lymphocytes. Leukocytes sialidase activites of the parents were 30 to 50% of the control values. These results suggest a genetic defect of sialidase.
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PMID:Adult type mucolipidosis with beta-galactosidase and sialidase deficiency. Histological and biochemical studies. 9 67

Myoclonus induced by catechol in the guinea-pig is not altered by manipulation of cerebral 5-hydroxytryptamine (5-HT). The administration of catechol does not alter brain levels of 5-HT or its metabolite 5-hydroxyindole acetic acid. This form of myoclonus therefore is not of relevance to the 5-HT-sensitive post-anoxic action myoclonus occurring in man.
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PMID:5-Hydroxytryptamine and myoclonus induced by 1,2-di-hydroxybenzene (catechol) in the guinea-pig. 9

A 5-year-old boy is reported with spinal myoclonus caused by cervical astrocytoma due to neurofibromatosis. The essential clinical and electromyographical signs of spinal myoclonus are the following: (1) Continuous rhythmical appearance in muscles innervated by the affected segments of the spinal cord. (2) Synchronous myoclonus in muscles innervated by the same spinal segments of one body side, asynchronous myoclonus in muscles of different segments as well as in contralateral muscles of the same segments. (3) Usually stable frequency, which may increase to a manifold under the influence of different stimuli. (4) Accentuation of the myoclonus under mental distress, disappearance during deeper sleep. The pathophysiological basis of spinal myoclonus might be a disinhibition in the area of the spinal formatio reticularis. Supraspinal stimuli can influence the myoclonus.
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PMID:Sinal myoclonus. 9 51

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


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