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)

Antibodies to glutamic acid decarboxylase (GADAb) are found in Stiff-Person syndrome, type 1 diabetes, cerebellar ataxia and other neurological disorders (such as epilepsy and myoclonus) involving the GABAergic ways. GADAb are usually detected by immunohistochemistry (IHC), radioimmunoassay (RIA) or enzyme-linked immunosorbent assay (ELISA). This study analysed the serum of 14 patients with neurological disorders who were positive by IHC for GADAb. The performance of a commercial RIA was compared with in-house immunoblotting and ELISA methods using recombinant GAD65 (rGAD65). RIA was positive in 14 of 14, immunoblotting was positive in seven of 14 and ELISA in 12 of 14. There was no correlation between the RIA result and the ELISA optical densities. Using a sodium thiocyanate chaotrope system with ELISA to determine antibody affinity, we found no significant correlation between antibody affinity and the RIA result. A consensus should be defined concerning which assay could be used as the gold standard for detecting GADAb. The most intriguing finding was that GAD antibodies from uncomplicated diabetics do not appear to recognize GAD in frozen sections from the rat cerebellum, whereas GAD antibodies from neurologically compromised diabetics do. A working proposal is therefore that type 1 diabetic patients with unusual neurological symptoms should be tested for GADAb both by RIA and IHC.
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PMID:Antigenic differences between neurological and diabetic patients with anti-glutamic acid decarboxylase antibodies. 1580 47

A 2 year old boy presented with features of opsoclonus, myoclonus and ataxia. Routine investigations of blood, urine, x-ray chest, bone scan, EEG and MRI of brain, were normal. Urine for VMA was negative. A right suprarenal mass was detected at MRI of abdomen. The mass was resected completely and was found histologically to be of differentiating type of neuroblastoma. The child was treated initially with prednisolone for 6 weeks along with sodium valproate. He is still on sodium valproate for his neurological symptoms. His symptoms still persist though they have decreased in intensity.
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PMID:A case of opsoclonus-myoclonus-ataxia with neuroblastoma. 1586 78

Sodium oxybate is currently approved in the United States exclusively for the treatment of cataplexy in narcoleptic patients. In a prior article published in this journal, we reported a patient with severe posthypoxic myoclonus whose myoclonus improved with ethanol and also with treatment with sodium oxybate. We extend this preliminary observation to five other patients with ethanol-responsive movement disorders in an open-label, dose-titration, add-on, 8-week trial. All five patients (one with severe alcohol-responsive posthypoxic myoclonus, two with epsilon-sarcoglycan-linked myoclonus-dystonia, and two with essential tremor) experienced improvement from baseline of 50% or greater as measured by blinded videotape review. Tolerability was satisfactory, with dose-dependent sedation as the most common side effect. Further studies of this drug in hyperkinetic movement disorders are warranted.
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PMID:A pilot tolerability and efficacy trial of sodium oxybate in ethanol-responsive movement disorders. 1598 20

Piracetam, a derivative of gamma-aminobutyric acid (GABA), has been used extensively for treatment of myoclonus in a variety of conditions, but not in patients with idiopathic generalized epilepsy (IGE). We have treated a patient with juvenile myoclonic epilepsy who had frequent and inconvenient morning myoclonus with 3,200 mg of piracetam daily. She had had only two generalized tonic-clonic seizures, with the last seizure 10 years earlier. Her obesity precluded the use of sodium valproate. She had a dramatic response to piracetam with sustained cessation of myoclonus and no side effects during 1.5 years' follow-up. Further trials of piracetam for control of myoclonus in patients with IGE are justified.
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PMID:Antimyoclonic efficacy of piracetam in idiopathic generalized epilepsy. 1602 69

The authors performed an open-label, rater-blinded, add-on study of sodium oxybate in 20 patients with ethanol-responsive myoclonus or essential tremor. Blinded ratings of videotaped examinations showed improvements in myoclonus at rest, stimulus-sensitive myoclonus, action myoclonus, functional performance, and postural and kinetic tremor. Tolerability was acceptable, and more than half of the patients chose to continue treatment after the trial. Double-blind placebo-controlled studies in these disorders are warranted.
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PMID:A single-blind, open-label trial of sodium oxybate for myoclonus and essential tremor. 1638 38

Post-anoxic myoclonus is a rare movement disorder manifested by diffuse action-triggered jerking movements that may result in significant disability. The incidence of this disorder is not clearly established, but over 122 cases have so far been reported in the literature. The pathogenesis is not entirely known, although it has been hypothesized that particular susceptibility of the Purkinje cells of cerebellum to anoxic injury may play a key role. A case is presented of an independently living 60-year-old woman admitted to the rehabilitation unit with diffuse myoclonus after sustaining a cardio-pulmonary arrest. She presented with severe jerking movements in all extremities with startle to noise and exacerbations upon attempting any purposeful actions. The patient's myoclonus was controlled by a variety of anti-epileptic medications. The patient initially responded to a combination of divalproex sodium and zonisamide, but relapsed in several weeks, requiring addition of levetriacetam and clonazepam. At a 1-year follow-up she demonstrated a significant improvement in ambulation and self-care activities. This case illustrates that, although patients with post-anoxic myoclonus cannot be fully cured, their quality of life can be significantly improved by rehabilitation interventions.
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PMID:Post-anoxic myoclonus: a case presentation and review of management in the rehabilitation setting. 1642 Oct 70

We studied 26 patients belonging to 20 families with a disorder caused by mutations in the POLG gene. The patients were homozygous for 1399 G/A or 2243 G/C (giving the amino acid changes A467T and W748S, respectively) or compound heterozygotes for these two mutations. Irrespective of genotype, the patients exhibited a progressive neurological disorder usually starting in their teens and characterized by epilepsy, headache, ataxia, neuropathy, myoclonus and late onset ophthalmoplegia. However, major differences in survival were seen depending on genotype, with compound heterozygotes having a significantly shorter survival time than patients homozygous either for the A467T or W748S (P = 0.006). Epilepsy occurred in 22 of the 26 patients and in the majority of these there was an occipital EEG focus. Episodes of both generalized and focal motor status epilepticus were common and highly resistant to treatment, even with generalized anaesthesia. Status epilepticus was the recorded cause of death in 9 of 11 patients. Liver failure was the sole cause of death in two patients and evolved terminally in six others, all but one of whom were being treated with sodium valproate. Two patients underwent liver transplantation, but only one survived. Delayed psychomotor development and subsequent cognitive decline also occurs. This study demonstrates the clinical spectrum of a disorder that combines features of Alpers' syndrome and a later onset mitochondrial spinocerebellar ataxia with epilepsy and headache. Patients with this disorder are at high risk of death from status epilepticus and from liver failure, if exposed to sodium valproate. Each mutation appears capable of producing a disorder that is recessively inherited, although we also find evidence in one patient suggesting that heterozygotes may manifest. Compound heterozygotes have a significantly more severe phenotype raising the possibility of a dominant negative effect.
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PMID:The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. 1743 11

In view of a role of oxidative stress in epilepsy and the evidence for the involvement of peroxidative injury in sodium valproate (SVP)-induced adverse effects on liver and kidneys, we investigated whether the combination of SVP with N-acetylcysteine (NAC), an antioxidant, may help us to achieve maximal efficacy in terms of seizure control, with minimal toxicity on liver and kidneys. Pentylenetetrazole (PTZ)-induced seizures were used to evaluate the anticonvulsant effect of drugs. Biochemical estimations included the determination of oxidative stress markers like thiobarbituric acid-reactive substances in brain tissue and glutathione (GSH) levels in liver and kidney tissues. Aspartate aminotransferase and alanine aminotransferase concentrations in the serum were also determined to assess liver function. In our study, NAC exhibited a nondose-dependent anticonvulsant effect. The concurrent administration of NAC with SVP significantly prolonged the latency to jerks, myoclonus and clonic generalized seizures. No significant oxidative stress was evident in brain tissue following PTZ-induced seizures, though an elevation of serum transaminase enzymes was seen. SVP at the dose studied did not produce any significant oxidative stress on the liver and kidneys, while treatment with NAC elevated liver and kidney GSH levels. The concurrent administration of NAC with SVP had beneficial effects on liver and kidney cells.
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PMID:Modulation of pentylenetetrazole-induced seizures and oxidative stress parameters by sodium valproate in the absence and presence of N-acetylcysteine. 1667 59

Lance-Adams syndrome, described in 1963, is caused by anoxia of central nervous system, generally in the course of primary respiratory failure. It is characterized mainly by action myoclonus, associated cerebellar ataxia and very mild intellectual deficit. Occurrence of Lance-Adams syndrome is rare; about 100 cases have been described yet. The authors present the case of Lance-Adams syndrome in 36-year-old woman with many years' bronchial asthma. Three times acute cardiopulmonary arrest appeared during status asthmaticus. After successful cardiopulmonary resuscitation action myoclonus developed with cerebellar syndrome, aphonia, dysphagia and generalized convulsive seizures of tonic-clonic type. Electroencephalography showed polyspikes and complex of polyspikes-slow wave, synchronized with myoclonus. CT of the brain was normal. Action myoclonus responded appropriately to sodium valproate. The authors indicate the importance of the correct diagnosis and proper treatment.
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PMID:[Lance-Adams syndrome in patient with anoxic encephalopathy in the course of bronchial asthma]. 1720 60

Experiments on Krushinskii-Molodkina rats with hereditary predisposition to audiogenic seizures showed that chronic consumption of aqueous solution of melatonin (50 mg/liter) had no effect on the pattern of seizures induced by 20-fold acoustic stimulation. Sodium valproate (50 mg/liter) insignificantly decreased the seizure response. Combined treatment with sodium valproate and melatonin produced a potent anticonvulsant effect, i.e. increased the latency and decreased the severity of audiogenic seizures. However, myoclonus in animals receiving combined treatment with these drugs developed much more rapidly compared to rats receiving melatonin or sodium valproate monotherapy.
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PMID:Effect of chronic consumption of sodium valproate and melatonin on seizure activity in Krushinskii-Molodkina rats. 1741 73


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