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)

We describe a patient with adult-onset neuronal storage disease characterized by myoclonus, cerebellar ataxia, convulsive seizures, cherry-red spots, skeletal dysplasia, mild gargoyle features, inguinal hernia, and angiokeratoma. Cytoplasmic inclusions consistent with lysosomal storage disease were demonstrated in neurons of the autonomic nervous system. Accumulation of GM3 and GM2 gangliosides was found in sympathetic ganglia but a catabolic disturbance of these gangliosides was ruled out by normal levels of GM3 ganglioside sialidase and N-acetyl-beta-hexosaminidase A activities. beta-Galactosidase activity was decreased in leukocytes and fibroblasts, but not in serum. GM1 gangliosidosis was ruled out by lipid analyses, and mucopolysaccharidosis by normal excretion of mucopolysaccharide in urine. Sialyl oligosaccharides were increased in urine and alpha-neuraminidase was deficient in fibroblasts. This disorder is considered to be an inherited metabolic disorder of sialyl glycoproteins and oligosaccharides due to deficiency of an alpha-neuraminidase.
Ann Neurol 1979 Sep
PMID:Adult type neuronal storage disease with neuraminidase deficiency. 53 22

At present there are two methods of management of tinnitus: one old, by masking with a noise generator, and one new, by biofeedback. Neither of these methods is convenient and neither gets at the heart of the problem. A third method, using intravenous lidocaine as a test and oral carbamazepine therapy, was developed in the Pain Clinic of the Auckland General Hospital in New Zealand. This paper will report our brief experience with these drugs in the management of tinnitus and other similar disorders. Twenty-seven patients with intractable tinnitus had a significant reduction from a test dose of intravenous lidocaine and were treated with oral carbamazepine. Of this group 1 patient (4%) had complete relief, 21 patients (78%) had partial relief, and 5 patients (18%) had no relief. Complications were few and not serious, and either disappeared spontaneously or when the carbamazepine was stopped. One patient with palatal myoclonus, refractory to all other forms of treatment, had complete relief on a small dose of carbamazepine. It may be that palatal myoclonus, hemifacial spasm, and other such clonic convulsive disorders will be amenable to the same treatment.
Laryngoscope 1978 Sep
PMID:Management of tinnitus aurium with lidocaine and carbamazepine. 68 4

This clinical study of 62 patients with restless legs syndrome and associated anxious-depressed and other clinical states seems to indicate that caffeine is the major etiological factor in the causation of the restless legs syndrome. Anxiety, while modifying the subjective experience of the dysphoric sensation of restless legs, is not a causative factor. Caffeine is responsible for the increased nervous system arousal as well as for the direct peripheral contractile effect on the striated muscle. This arousal is often reflected psychologically in anxiety and sometimes depressive manifestations, insomnia, heightened proprioceptive awareness and physiologically in the toxic sensory experience of restless legs associated with increased neuromuscular reactivity which may include myoclonus and myokomia.
J Clin Psychiatry 1978 Sep
PMID:Restless legs, anxiety and caffeinism. 69 85

The clinical features of 42 patients with the only recently recognized and generally fatal neurological syndrome of progressive dialysis encephalopathy are reviewed and the electroencephalographic and neuropathological findings are summarized. Despite apparently successful hemodialysis, these patients develop a wide spectrum of neurological abnormalities. Of these, sudden onset of hesitant, nonfluent speech is the most characteristic and usually the earliest sign. Both dysphasic and dysarthritic elements are found, though the former predominate. Myoclonus, dementia, seizures, and gait difficulty are also seen in the majority of these patients. EEGs are more abnormal than would be expected for the clinical severity, with some type of high-voltage spike-wave pattern intermixed with abundant slow activity. The combination of clinical and EEG features in the appropriate setting is virtually diagnostic. Transient episodes with variable periods of complete or partial remission have been recognized. Neuropathological changes are surprisingly mild and nonspecific. The cause is uncertain; current speculation focuses on aluminum as the offending neurotoxin. Treatment remains unsatisfactory.
Ann Neurol 1978 Sep
PMID:Progressive dialysis encephalopathy. 71 32

In 13 healthy adult cats chronically implanted with parasagittal electrodes applied to the dural surface, curarization was performed and baseline recordings of the visual evoked response (VER), auditory evoked response (AER), and brainstem auditory evoked response (BAER) were made. Following the procedure of Prince and Farrell (1969), the animals were then given intramuscular doses of 300,000 to 500,000 U/kg of penicillin with the subsequent development of diffuse, bilaterally symmetrical, photosensitive spike-and-wave discharges in the EEG from 1 to 1 1/2 hr later and concomitant facial myoclonus, arrest of movement, and "absence-like" staring in non-curarized animals. The VER, AER, and BAER were monitored at 15-min intervals for several hours during which time the VER consistently decreased in amplitude up to the time at which the first spike-and wave bursts could be elicited by photic stimulation, approximately 1 hr after injection, after which all early components (0-200 msec) of the VER were progressively increased from 150 to 300% until spontaneous spike-and-wave bursts were consistently recorded (1 1/2-2 hr). Coincident with this change, a marked increase in late components (200-500 msec) was also observed. Both th early diminution and later augmentation of the VER were equally observable in visual and nonvisual cortex. Changes in the AER were also recorded with the development of this model, and were similar to those of the VER but of a lesser degree. The amplitudes of waves I through V of the BAER were found to increase from 28 to 88% maximal at 1 1/2 hr following penicillin injection. These data and the similarity of this model to human petit mal epilepsy argue against increased inhibitory impulses to the visual system during the ictal discharge being responsible for the subjective loss of visual information during petit mal absence. If the amplitude of the evoked response is directly related to the functional integrity of a sensory system, this suggests that the impairment of sensory input, or absence, during spike-and-wave paroxysm is due to interference with sensory processing rostral to the brainstem ascending auditory pathway, and probably does not occur in primary sensory cortex but rather in cortical or subcortical association tracts.
Epilepsia 1976 Sep
PMID:Visual and auditory evoked responses during penicillin-induced generalized spike-and-wave activity in cats. 82 23

Pecularities attending the fixation of antibodies from the sera of patients with arterial hypertension, amyotrophic lateral sclerosis, multiple sclerosis, hepato-cerebral disease, and myoclonus-epilepsy were studied by the indirect Coons' method. Antibrain antibodies, complimentary to various nervous tissue structures always formed in the patients suffering from the mentioned diseases. The antigenic properties of individual components of the brain tissue of the patients failed to change as much as to differ completely from the antigenic properties of the same formations in normal animals. At the same time various components of different neurons and glial cells, myelin membranes of various conductive systems, and, to a lesser degree, cells of the ependyma and vascular walls located in various portions of the brain, posessed not only common, but also different antigenic properties.
Biull Eksp Biol Med 1976 Sep
PMID:[Fixation of human serum anticerebral antibodies in different regions of the rabbit brain]. 82 60

Although there is evidence that the delirium, stupor, coma, and seizure-like activity seen in overdosage with tricyclic antidepressants and antiparkinson drugs are due to the central anticholinergic activity of these agents, patients with overdosage of these drugs are still frequently misdiagnosed. The authors present a case of reversal of anticholinergic-drug-induced prolonged coma, myoclonus, and choreoathetosis by physostigmine. This report supports the anticholinergic basis of the clinical manifestations of such overdosages, provides information on the role of acetylcholine and dopamine in psychiatric and movement disorders, and illustrates dramatically the need for accurate diagnosis and treatment.
Am J Psychiatry 1976 Sep
PMID:Reversal of tricyclic-overdosage-induced central anticholinergic syndrome by physostigmine. 96 21

In two patients with postanoxic action myoclonus, L-tryptophan or a monoamine oxidase inhibitor induced a moderate improvement, but L-5-hydroxytryptophan had greater therapeutic effect. Methysergide, a potent blocker of serotonin receptors, consistently induced a marked deterioration in myoclonus. Pretreatment cerebrospinal fluid 5-hydroxyindoleacetic acid levels were reduced significantly in both patients. These findings suggest that postanoxic action myoclonus likely is associated with insufficient serotonergic activity in the central nervous system. Data are inadequate to determine whether this apparent insufficiency reflects structural changes in 5HT-containing raphe nuclei due to a direct anoxic damage to these structures of functional changes caused by a secondary reduction in the activity of intact serotonergic neurons.
Neurology 1976 Sep
PMID:Beneficial effects of serotonin precursors in postanoxic action myoclonus. 108 68

Seven cases of progressive familial myoclonus epilepsy occurring in three families are presented. The patients were in different stages of the illness. The EEG was abnormal in all. It is suggested that these cases belong clinically to the Lafora bodies group. Nystagmus and optic atrophy, seen in one patient, have not been described previously. Myoclonic jerks did not respond to treatment with diazepam and ethosuximide.
J Neurol Neurosurg Psychiatry 1975 Sep
PMID:Progressive familial myoclonus epilepsy. 118 22

A patient with progressive neurological deterioration characterized by cognitive impairment, myoclonus, Parkinson's syndrome, an abnormal electroencephalogram and fasciculations was considered for brain biopsy for suspected Creutzfeldt-Jakob disease. Complete clinical recovery followed discontinuation of lithium and nortriptyline. Awareness of this unusual drug-induced Creutzfeldt-Jakob like syndrome can avoid costly, invasive and unnecessary investigative procedures.
J Psychiatry Neurosci 1992 Sep
PMID:Drug-induced Creutzfeldt-Jakob like syndrome. 139 Jun 20


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