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)

A 50-year-old woman was admitted to our hospital because of abnormal involuntary movement of upper abdomen. Three months before admission, she had suffered from left lateral chest pain without skin lesions for one week. The neurological examination on admission revealed myoclonus of upper abdomen, and hyperalgesia and thermohyperesthesia from T4 to T9. There was no weakness, the tendon reflexes were symmetrical and the plantar responses were flexor. The surface EMG disclosed the symmetrical, synchronous contractions of m. rectus abdominis and m. obliques externus abdominis. This spinal myoclonus reduced during sleep. The EEG, CT and MRI showed no abnormalities. Serum varicella-zoster virus (VZV) titers increased significantly on follow-up examinations. Clonazepam, 1.5 mg daily was effective in this patient. The myoclonus spontaneously disappeared without clonazepam in six weeks after onset, and at the same time the sensory disturbance also improved. From the neurological findings and clinical course, we consider this spinal myoclonus was probably elicited by involvement of the inhibitory interneurons of the dorsal horns, due to immune response to latent VZV infection but not to direct neuronal destruction by VZV. Spinal myoclonus should be recognized as the spectrum of neurological disease associated with VZV even in the absence of skin lesions.
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PMID:[Varicella-zoster virus-associated spinal myoclonus without skin lesions]. 139 36

Creutzfeldt-Jakob disease was diagnosed in four growth hormone recipients at the age of 10, 11, 18 and 19 years. To our knowledge, the two first cases are the first instances of Creutzfeldt-Jakob disease recorded in children. Three of them were still being treated with synthetic hormone at the onset of the disease. Neurological disorders: ataxia and diplopia, appeared first, dementia and myoclonus appeared later. Eighteen cases of Creutzfeldt-Jakob disease in growth hormone recipients are now recorded, and the present risk of Creutzfeldt-Jakob disease in pituitary growth recipients is estimated to be 1/300. Because of the long incubation period, new cases are to be feared. Other causes of iatrogenic Creutzfeldt-Jakob disease are reviewed. These facts incite to consider carefully using products of human origin in human therapy. The interactions between growth hormone, prion and host's genomic make-up are still not clear.
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PMID:[Creutzfeldt-Jakob disease in 4 children treated with growth hormone]. 144 46

Onset of a neurological disease was coincidental in two members of a family. The mother died at the age of 57 and her daughter at the age of 27 years. Clinically the disease was manifested by cerebellar ataxia, visual disturbances, dystonic movements and intellectual impairment which appeared very later in the course of the disease in the younger patient. Myoclonus was only observed in the mother. The EEG examination revealed non-specific abnormalities. CT scans disclosed severe cerebellar atrophy and reduced size of the pons in the daughter. The duration of the disease was 7 months in the mother and 3 years in her daughter. The neuropathological examination showed degeneration of the thalamus, substantia nigra and inferior olives, together with loss of Purkinje cells and axonal torpedos in the granular layer of the mother. Olivopontocerebellar atrophy, atrophy of the thalamus and substantia nigra, associated to typical spongiform encephalopathy of the cerebral cortex, amygdaloid complex and striatum occurred in the daughter. These observations let us to comment whether multisystemic atrophies may be fortuitously associated to different prion-induced encephalopathies, or may be found in the context of spongiform encephalopathies.
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PMID:[Spongiform encephalopathy and multisystemic degeneration]. 186 55

Inherited congenital myoclonus (ICM) of Poll Hereford cattle is a neurological disease in which there are severe alterations in spinal cord glycine-mediated neurotransmission. There is a specific and marked decrease, or defect, in glycine receptors and a significant increase in neuronal (synaptosomal) glycine uptake. Here we have examined the characteristics of the cerebral gamma-aminobutyric acid (GABA) receptor complex, and demonstrate that the malfunction of the spinal cord inhibitory system is accompanied by a change in the major inhibitory system in the cerebral cortex. In synaptic membrane preparations from ICM calves, both high-and low-affinity binding sites for the GABA agonist [3H]muscimol were found (KD = 9.3 +/- 1.5 and 227 +/- 41 nM, respectively), whereas only the high-affinity site was detectable in controls (KD = 14.0 +/- 3.1 nM). The density and affinity of benzodiazepine agonist binding sites labelled by [3H]diazepam were unchanged, but there was an increase in GABA-stimulated benzodiazepine binding. The affinity for t-[3H]butylbicyclo-o-benzoate, a ligand that binds to the GABA-activated chloride channel, was significantly increased in ICM brain membranes (KD = 148 +/- 14 nM) compared with controls (KD = 245 +/- 33 nM). Muscimol-stimulated 36Cl- uptake was 12% greater in microsacs prepared from ICM calf cerebral cortex, and the uptake was more sensitive to block by the GABA antagonist picrotoxin. The results show that the characteristics of the GABA receptor complex in ICM calf cortex differ from those in cortex from unaffected calves, a difference that is particularly apparent for the low-affinity, physiologically relevant GABA receptors.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Increased gamma-aminobutyric acid receptor function in the cerebral cortex of myoclonic calves with an hereditary deficit in glycine/strychnine receptors. 216 65

The triad of mental abnormalities, neurologic disorders and abnormal electroencephalogram is central to respiratory encephalopathy. The development of myoclonus has been considered as a sign heralding the development of generalized seizures and coma. A patient with chronic bronchitis is reported in whom myoclonus was the predominant symptom. Myoclonus was generalized, symmetrical and synchronic, and electroencephalographic correlation was shown, with diffuse polyspike-high potential wave discharges coincident with myoclonus. Remarkably, they promptly responded to low doses of diazepam, with disappearance of clinical neurologic and electrical findings. These have not subsequently relapsed although the patient is not receiving specific therapy. The risk of the administration of diazepam was weighted against other specific drugs (clonacepam, pyracetam) which are probably better tolerated. The interest in the quicker response of diazepam prevailed. We propose the inclusion of myoclonus secondary to respiratory encephalopathy in the classification of myoclonic disorders.
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PMID:[Myoclonus as a manifestation of respiratory encephalopathy]. 263 90

A 15 years-old girl with no previous history of epilepsy or neurological disease presented three types of epileptic symptoms the same day: 1) clusters of rhythmic myoclonus of the left hemiface; 2) episodes of painful paresthesias of the left arm followed by secondary generalised seizures; 3) episodes of elementary visual hallucinations of the right hemifield. She had several seizures each hour and some were recorded. There were no EEG abnormalities during the facial myoclonus but rapid rhythms were seen during the sensory and visual partial seizures on the right parietal and left occipital lobes. There was no fever and no drowsiness. The CSF tap showed pleocytosis. Serological studies indicated recent mumps. The drugs were initially inefficient. The seizures disappeared after a month. The drugs were stopped after three months and the seizures had not relapsed after a one year's follow-up. Though there were no other sign of encephalitis, we believe that episode of multifocal seizures was due to mumps encephalitis.
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PMID:[Multifocal epileptic crises following mumps]. 338 23

A 19-year-old woman with long-standing sensorineural deafness, bilateral cataracts and mild clumsiness, presented with acute focal edema in the left temperoparieto-occipital area which required surgical decompression as a life-saving measure. Investigation revealed a persistent lactic acidemia and evidence of many ragged red fibres in a skeletal muscle biopsy specimen, suggesting a diagnosis of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. The patient developed two further stroke-like episodes over a short period. One sibling died at the age of 14 years with a progressive neurological illness characterised by seizures, bilateral optic atrophy, ataxia, myoclonus and progressive dementia. The diagnosis of MELAS syndrome should be considered in young people presenting with stroke-like episodes that fail to conform to a given vascular territory, particularly if they have long-standing minor neurological abnormalities or a family history of obscure early onset neurological disease. The different clinical pictures in the two affected siblings in this family suggest that MELAS syndrome is part of a spectrum of inherited mitochondrial cytopathies rather than a discrete disease entity.
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PMID:Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema. 339 2

Subacute sclerosing panencephalitis (SSPE) is a rare central nervous system degenerative disease that occurs primarily in children and adolescents. It is believed to be caused by a measles-like virus. Initial symptoms usually present as a variety of personality changes followed by myoclonus with progression of mental and motor deterioration, which leads to death within a few months to years. New experimental treatment with inosiplex has been shown to be helpful for patients stricken with this progressive neurological disease. A response to inosiplex therapy is best in patients with a slowly progressing form of the disease. Inosiplex treatment is safe with few adverse effects. The duration of treatment appears to be lifelong since many patients relapse when inosiplex therapy is discontinued. This article reviews the etiology, pathogenesis, and experimental treatment of SSPE.
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PMID:Treatment of subacute sclerosing panencephalitis: an overview. 620 74

Among patients with renal failure, there have been impressive modifications of both the duration and quality of life as a result of dialysis, renal transplantation, and improved medical management. However, patients who have renal failure continue to manifest a variety of neurologic disorders. Patients with chronic renal failure who have not yet received dialytic therapy may develop a symptom complex progressing from mild sensorial clouding to delirium and coma, with tremor, asterixis, multifocal myoclonus, and seizures. Even after the institution of otherwise adequate maintenance dialysis therapy, patients may continue to be afflicted with more subtle nervous system dysfunction, including impaired mentation, generalized weakness, and peripheral neuropathy. The central nervous system disorders of both untreated renal failure and that persisting despite dialysis are referred to as uremic encephalopathy. The dialytic treatment of end stage renal disease has itself been associated with the emergence of two distinct, new disorders of the central nervous system: Dialysis dysequilibrium and dialysis dementia. The dialysis disequilibrium syndrome consists of headache, nausea, muscle cramps, obtundation and seizures, and is a consequence of the initiation of dialysis therapy in some patients. Dialysis dementia is a progressive, generally fatal encephalopathy which affects patients on chronic hemodialysis. This disease also appears to be a complication of the therapy for renal failure.
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PMID:Pathogenesis of dialysis encephalopathy. 636 3

One strategy for deciphering inherited neurological disease is to examine the expression of individual genes controlling the assembly and physiology of specific cell groups within the developing mammalian central nervous system (CNS). This neurogenetic approach, using defined single-locus mutations arising on coisogeneic mouse strains, has recently been used to analyse a major class of neuronal membrane diseases involving abnormal excitability, the epilepsies, and to identify examples of hereditary variation in signalling properties at central synapses. An interesting mutation, the Tottering (tg) gene, causes a delayed onset, recessive neurological disorder in the mouse featuring a stereotyped triad of ataxia, intermittent myoclonus and cortical spike-wave discharges accompanied by behavioural absence seizures which resemble petit mal epilepsy. Axon branches of the locus coeruleus, a noradrenergic brain-stem nucleus, hyperinnervate specific target regions of the tg brain. The number of parent coerulean perikarya is unaffected, indicating a true proliferation of the terminal axonal arbor. With the exception of this unusually precise error of axonal growth, no other cytopathology has been identified in the tg brain. Here I present evidence that selective lesions of the central noradrenergic axons early in development limit the expression of the disease.
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PMID:A single gene error of noradrenergic axon growth synchronizes central neurones. 646 26


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