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)

To clarify the mechanism by which inhibitory motor responses such as cortical negative myoclonus are generated in humans, three patients with medically intractable partial epilepsy (two with frontal lobe epilepsy and one with parietal lobe epilepsy) were studied by means of direct cortical stimulation with a single electric pulse through subdural electrodes. All underwent chronic long-term video/EEG monitoring, cortical mapping by 50 Hz electric cortical stimulation and recording of cortical somatosensory evoked potentials with chronically implanted subdural grid electrodes (3 mm in diameter and centre-to-centre distance of 1 cm) to map both epileptogenic and functional zones. After these clinical evaluations, cortical stimulation by single electric pulse (0.3 ms duration, 1 Hz) was carried out through pairs of subdural electrodes located at the primary sensorimotor area (MI-SI), pre-supplementary motor area (pre-SMA) and lateral negative motor area (lateral NMA), while surface EMG was recorded from the muscles of the contralateral hand. The results showed that (i) in all subjects, single pulse stimulation of MI-SI elicited a motor evoked potential (MEP) followed by a silent period (SP) in the contralateral distal hand muscles, the latter lasting 300 ms after the stimulus. The duration of SP was proportional to the size of the preceding MEP. In one subject, SP without any preceding MEP was elicited, and, in another subject, there was a short SP immediately before MEP in the contralateral thenar muscle. (ii) Following the stimulation of either pre-SMA or lateral NMA, no SP was observed. It is concluded that the inhibitory mechanism within the MI-SI, but probably not in the non-primary motor areas, either closely linked to or completely independent of excitation, most likely plays an important role in eliciting brief negative motor phenomena such as cortical negative myoclonus or SP.
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PMID:Role of primary sensorimotor cortices in generating inhibitory motor response in humans. 1090

Bursts of paroxysmal activity alternating with lack of activity define the suppression-burst (SB) pattern that may be acute, in hypoxic-ischemic encephalopathy and barbiturate intoxication, or chronic in the course of early epileptic and neonatal myoclonic (NME) encephalopathies. Malformations, namely Aicardi syndrome and hemimegalencephaly, gene mutations - of ARX and MUNC18 -, and inborn errors of metabolism, namely glycine encephalopathy, are the main causes, with spasms indicating more likely a malformation whereas myoclonus indicates metabolic disorders. Although glycine encephalopathy has a very severe outcome in its classical expression, it may be transient in the neonatal period, for reasons yet not identified. Although glycine encephalopathy is the main identified cause of NME, the disorder may not cause SB, especially in cases with later onset. The biochemical bases, due to changes in one of the four proteins that compose the enzyme, are well understood, but there is no phenotype-genotype correlation. Prenatal diagnosis is based on villous biopsy. The mechanism of SB partly depends on glutamate - or glycine, the co-neurotransmitter for NMDA transmission - overflow, mainly in the immature brain but also in cases due to barbiturate intoxication. Energy supply defect may also be involved in some inborn errors of metabolism.
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PMID:Epileptic encephalopathy with suppression-bursts and nonketotic hyperglycinemia. 2362 1