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)

Movement disorders are a well-recognized feature of some patients with cerebral palsy and often require treatment. However, treatments have been symptomatic and empiric, and there have been few pharmacologic studies. The major movement disorders in cerebral palsy are dystonia and the hyperkinesias choreoathetosis and myoclonus. They may occur in combination, often accompanied by spasticity and sometimes by epilepsy. Some drugs are useful treatments for all of these problems, but others may improve one while worsening another. Pitfalls in management include not diagnosing metabolic/degenerative disorders, which may mimic cerebral palsy, or not recognizing reversible complications of cerebral palsy, which may exacerbate symptoms. This review attempts to summarize empiric drug use and recommendations for therapy, drug studies in extrapyramidal cerebral palsy, and prospects for new drugs or models for the problem. Many new pharmacologic agents are available for study in cerebral palsy. Better methods of detecting basal ganglia injury after perinatal injury in asymptomatic infants may allow early intervention in the biologic process of recovery and adaptation.
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PMID:Oral pharmacotherapy for the movement disorders of cerebral palsy. 895 57

We report a 60-year-old woman with progressive ataxia, myoclonus, choreoathetosis, and dementia. She was well until 27 years of the age when she noted an onset of gait disturbance and speech disturbance. She noted abnormal involuntary movements in her four limbs at 42 years of the age. Her symptoms had progressively become worse and she fell down frequently by her 52 years of the age. In addition, her family members noted gradual decline in her intelligence. She was admitted to our hospital in February of 1993 when she was 57-year-old. On admission, she showed dementia, scanning speech, ataxic gait, limb ataxia, action myoclonus, and choreic movements which involved her four limbs. Deep tendon reflexes were slightly exaggerated in the lower limbs; no Babinski sign was noted. Sensation was intact. Laboratory findings were unremarkable. Cerebral MRI revealed atrophy of the cerebellar cortex, superior cerebellar peduncle, brain stem, and the cerebral cortex; the third ventricle and the lateral ventricles were dilated; furthermore, T2-high signal lesions were seen in the cerebral white matter and in the pontine base. Her clinical course was one of the progressive deterioration of her ataxia, involuntary movements, and dementia. She expired on April 24, 1996 when she was 60-year-old. She was discussed in a neurologic CPC and the chief discussant arrived at the conclusion that the patient had dentatorubral-pallidoluysian atrophy. A minor opinion was that she might have had myoclonus epilepsy with ragged-red fibers. Postmortem examination revealed atrophy, gliosis, and neuronal loss in the external segment of the globus pallidus, subthalamic nucleus, red nucleus, and in the dentate nucleus. In addition, the gracil and cuneiform nuclei showed neuronal loss and spheroid formation; the spinocerebellar tracts were retained. The substantia nigra and the locus coeruleus were intact. No ragged-red fibers were seen in the muscle biopsy specimen taken in February, 1993. The neuropathologic findings were consistent with the diagnosis of dentatorubral-pallidoluysian atrophy.
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PMID:[(Neurological CPC.55). A 60-year-old woman with progressive cerebellar ataxia, myoclonus, and dementia]. 923 57

Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant cerebellar ataxia characterized clinically by myoclonus, epilepsy, cerebellar ataxia, choreoathetosis, and dementia with personality change. Histopathologically, DRPLA is characterized by a unique combination of degenerative changes in both the dentatofugal and the pallidofugal systems. Credit for the establishment of DRPLA as an entity is given to Naito and Oyagagi, who first noticed a strong heritability and an age of onset-dependent variability of the clinical features. Most papers on DRPLA research are written in Japanese, and are extensively reviewed here. After the gene was identified in 1994, DRPLA became known as one of the CAG repeat expansion diseases, in which the responsible gene is located on chromosome 12p and its product is called atrophin-1. Classical genetics revealed that DRPLA shows prominent "anticipation" and modern molecular genetics provided a clear explanation for this phenomenon, by demonstrating a strong instability of the expanded CAG repeat length through generations. The impact of gene analysis of DRPLA on the clinical genetics and neurology are discussed. Moreover, possible mechanism(s) underlying the neuronal cell death in DRPLA are discussed in terms of the molecular pathology.
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PMID:Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease. 993 95

Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant disorder characterized clinically by myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. Cardinal pathological features of DRPLA are a combined degeneration of both the dentatorubral and the pallidoluysian systems. Although the early sporadic cases were reported by Western neuropathologists, a strong heritability and an age of onset-dependent variability of the clinical features were carefully deduced by Japanese clinicians. The disease is fairly common in Japan, but extremely rare in Caucasians. Since the gene was identified in 1994, DRPLA is known as one of the CAG repeat expansion diseases, in which the responsible gene is located on chromosome 12p and its product is called atrophin 1. DRPLA shows prominent 'anticipation', which is genetically clearly explained by a marked instability of the expanded CAG repeat length during spermatogenesis. Moreover, the instability of the CAG repeat length also seems to occur in the somatic cells, resulting in 'somatic mosaicism'. Possible mechanism(s) underlying the neuronal cell death in DRPLA are discussed in terms of molecular pathological points of view.
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PMID:Molecular pathology of dentatorubral-pallidoluysian atrophy. 1043 7

Two boys developed rhythmic involuntary movements in the extremities on one side of the body after febrile illness. They also showed behavioral disturbances. In both patients, serum antistreptolysin-O and antistreptokinase titers were elevated in acute illness and decreased a few months later. One patient showed tremorous movement, and the other choreiform movement. In the former, a surface EMG showed short-duration (30 to 60 ms), highly frequent (6 to 8 Hz) and synchronous discharges of multiple muscles, including the antagonists, suggesting myoclonic jerk. In the latter, a surface EMG showed long-duration (0.5 to 1 s), repetitive (about 0.5 Hz) and synchronous or asynchronous discharges of the antagonists, suggesting choreoathetosis. In both patients, giant somatosensory evoked potentials and high-voltage slow EEG activities were observed predominantly in the hemisphere contralateral to the involuntary movement. In the myoclonic patient, long-latency EMG responses were enhanced and cortical potentials preceding the myoclonus were present by jerk-locked back averaging technique. The present data suggest that unilateral rhythmic involuntary movements occur secondary to streptococcal infection. The pathophysiology of the involuntary movements may be associated with sensorimotor cortex hyperexcitability.
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PMID:Unilateral involuntary movement associated with streptococcal infection: neurophysiological investigation. 1083 80

Pathology and associated clinical symptoms of hereditary dentatorubral-pallidoluysian atrophy (H-DRPLA) which was established as a new inherited neurodegenerative disease in 1982 are described. Obligatory lesions in the central nervous system combine with degeneration of the dentatorubral and pallidoluysian pathway, and occasional degenerative lesions are found in the cerebral white matter, putamen, Goll's nucleus of the medulla oblongata, and lateral corticospinal and Goll's tract of the spinal cord. The main clinical symptoms are myoclonus, epilepsy, dementia or mental retardation, cerebellar ataxia and choreoathetosis. Furthermore, newly developing aspects in the pathology of H-DRPLA following the discovery of the gene locus of H-DRPLA in 1994 are briefly described.
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PMID:Hereditary dentatorubral-pallidoluysian atrophy. 1103 86

Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder characterized by various combinations of cerebellar ataxia, choreoathetosis, myoclonus, epilepsy, dementia and psychiatric symptoms. With the discovery of the gene for DRPLA in 1994, molecular mechanisms of neurodegeneration has been intensively investigated. Expression of truncated DRPLA proteins in cultured cell has been shown to result in aggregate body formation and apoptosis. We have developed transgenic mice for DRPLA (Q129 mice). The Q129 mice showed a severe neurological phenotype characterized by ataxia, myoclonus and seizures. Although numerous neuronal intranuclear inclusions (NIIs) were observed in the brain, obvious neuronal loss was not observed. NIIs, however, appeared much later than the phenotypic presentations, and intranuclear accumulation (diffuse nuclear staining) of mutant proteins was the earliest phenomenon. These results suggest that "neuronal dysfunction", but not "neuronal cell death", is responsible for the phenotypes. Hypothesizing that nuclear proteins interacting with expanded polyglutamine stretches are involved in the pathogenesis, we found that that expanded polyglutamine stretches preferentially bind to TAF130, a cofactor involved in CREB-dependent transcriptional activation, and strongly suppressed CREB-dependent transcriptional activation. Taken together, these findings suggest that the interference of CREB-dependent transcription by expanded polyglutamine stretches is involved in the neuronal dysfunction in polyglutamine diseases.
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PMID:[Molecular mechanisms of neurodegeneration in dentatorubral-pallidoluysian atrophy (DRPLA)]. 1223 96

Movement disorders as postinfectious manifestation of group A streptococcal infections have been reported and are thought to occur on an autoimmune basis. We describe an unusual case of multifocal myoclonus following strep throat infection. Clinical description and chart review were the method used. A 10-year-old boy developed focal myoclonus involving his right arm and shoulder 1 week after streptococcal throat infection treated with penicillin. His magnetic resonance image was normal, and he initially responded to clonazepam but did not sustain a response. The myoclonus spread to involve all limbs and the trunk becoming multifocal over the next few weeks. He did not have choreoathetosis of Syndenham's chorea. He was given one course of intravenous immunoglobulin and became asymptomatic after treatment. He remained symptom free for 8 months following intravenous immunoglobulin treatment. Various symptoms have been reported following group A streptococcal infections in children. These neurobehavioral abnormalities may be mediated through antineuronal antibodies. Our case demonstrates multifocal myoclonus as a poststreptococcal autoimmune phenomenon. To our knowledge, only two other cases of poststreptococcal myoclonus have been reported in the literature. Recognition of this unusual condition as a manifestation of autoimmune poststreptococcal disease in children is essential to avoid overinvestigation and to ensure early treatment.
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PMID:Multifocal myoclonus following group A streptococcal infection. 1288 83

Dentatorubropallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder characterized by a variable combination of progressive ataxia, epilepsy, myoclonus, choreoathetosis and dementia. This disease is caused by a (CAG)(n) expansion in the DRPLA gene, on chromosome 12p13. DRPLA is prevalent in Japan, but several families of non-Japanese ancestry have already been published. To identify the origin of expanded alleles in Portuguese families with DRPLA, we studied two previously reported intragenic SNPs in introns 1 and 3, in addition to the CAG repeat of the DRPLA gene. The results showed that all four Portuguese DRPLA families shared the same haplotype, which is also common to that reported for Japanese DRPLA chromosomes. This haplotype is also the most frequent in Japanese normal alleles, whereas it was rare in Portuguese control chromosomes. Thus, our findings support that a founder DRPLA haplotype of Asian origin was introduced in Portugal, being responsible for the frequency of the disease in this country.
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PMID:Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin. 1451 72

Movement disorders are reported in a significant number of patients within the course of Creutzfeldt-Jakob disease (CJD). Although myoclonus is more frequent, dystonia, choreoathetosis, tremor, hemiballismus, and atypical parkinsonian syndromes have also been reported. In this review, we report the principal movement disorders associated with CJD and evaluate their correlations with neuroradiological and neuropathological findings that could in fact suggest a basal ganglia dysfunction. Further studies are warranted in order to clarify these correlations.
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PMID:Movement disorders and Creutzfeldt-Jakob disease: a review. 1636 74


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