Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reported a case of mitochondrial encephalomyopathy with repeated stroke-like episodes. A 33-year-old single male was admitted to our hospital because of stroke-like episodes with visual field defect, hemiplegia and convulsion repeated seven times for the past seven years. There were no abnormalities on the physical examination. He was hallucinative and perseverative and had mental deficiency. Muscle weakness and atrophy were not prominent, and generalized hyporeflexia were present without pathological reflexes. Myoclonus was not observed. Serum CK and blood gas analysis were normal (pH 7.398). Although blood levels of lactate and pyruvate were almost within normal limit, lactate was elevated by 20WATT-15 minutes exercises. On the contrary, the CSF levels of lactate and pyruvate were elevated markedly. CT of the brain revealed the presence of the low density areas in the right occipital and the left frontal lobes. Cranial 4 vessels studies were unremarkable. EEG showed the diffuse slowness with spike and wave complex. CT of the muscles were normal. A specimen obtained from the left biceps brachii muscle showed ragged-red fibers without obvious myogenic or neurogenic changes, and accumulations of abnormal mitochondria with paracrystalline inclusion bodies were observed by electron microscopy. However, mitochondrial abnormalities were not seen in the vessel walls in the biopsied muscle. Activities of complex I + III, II + III, IV in mitochondria were normal. Clinical features of this case were consistent with MELAS. However, this case showed no muscle weakness, short stature and lactic acidosis which characterize MELAS, and the onset of this case was later than those cases that were reported before.
 ...
PMID:[A case of mitochondrial encephalomyopathy characterized by repeated stroke-like episodes]. 250 53

In 4 patients with residual cerebral circulation disorders in the vertebrobasilar vascular bed, the myoclonus of soft palate, pharynx, larynx, tongue (in 2 cases comprising opsoclonus) developed among other signs of brainstem or cerebellar lesions. Myoclonic hyperkinesia emerged after 1.5 to 4 months of the disease, not in its acute period, and was not related to second stroke. With focal neurological signs analyzed, the syndrome of the soft palate myoclonus++ plus opsoclonus appeared in connection with the lesions of upper cerebellar crus where dento olivary++ pathway and the fibers connecting the cerebellar flocculus with oculomotor nuclei run. Soft palate myoclonus++ without opsoclonus emerges with lesions of cerebellar dental nucleus and central pathway of the brainstem tegmentum.
 ...
PMID:[Soft palate myoclonus and opsoclonus in disorders of cerebrovascular circulation in the vertebrobasilar system]. 280 Aug

We report 2 brothers with progressive ataxia, seizures, myoclonus, supranuclear ophthalmoplegia, progressive visual loss and embolic strokes. The epilepsy and myoclonus came on many years after the onset of the ataxia. In the more severely affected brother the myoclonus was often unilateral and focal but ultimately involved both sides of the body. His sibling had only unilateral myoclonus after a contralateral middle cerebral artery stroke. When focal, persistent and unilateral, the myoclonus in both brothers was clinically similar to epilepsia partialis continua except that muscles of the trunk and proximal limbs were the most affected. It was exacerbated by movement of the affected part but was otherwise not stimulus sensitive. The more severely affected brother had a pigmentary retinopathy and a cardiac fibromyxoid valvulopathy. In his sibling, visual loss was not fully investigated and the heart was not examined at autopsy though he had a longstanding heart murmur. Neuropathological studies showed pancerebellar cortical atrophy, cell loss in the inferior olivary nuclei and old right middle cerebral artery infarctions in both brothers. Biochemical assays for known metabolic diseases were negative. We suggest that this syndrome represents a unique autosomal recessive form of progressive myoclonus epilepsy of unclear aetiology. It is distinguished from other familial myoclonus epilepsies by the presence of early onset cerebellar ataxia, supranuclear ophthalmoplegia, pigmentary retinopathy and possibly cardiac valvulopathy with subsequent cerebral emboli.
 ...
PMID:Myoclonus epilepsy in two brothers. Clinical features and neuropathology of a unique syndrome. 308 70

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.
 ...
PMID:Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema. 339 2

Cardiopulmonary arrest is a test of the brain's tolerance to global ischemia. New insights into the pathophysiology of global ischemia have led to the potential use of early prophylactic anticonvulsants, hypothermia, barbiturate coma, glucose manipulations, calcium-blocking agents, and hemodilution. A wide spectrum of neurologic sequelae may follow global ischemia, ranging from brain death, vegetative states, and impairment of higher intellectual function to syndromes of amnesia and cortical blindness, post-anoxic myoclonus, delayed leukoencephalopathy, and spinal stroke. The distinctive features of these sequelae and their pathophysiologic aspects are discussed. Special attention is given to brain death and prognostication.
 ...
PMID:Cardiopulmonary arrest. Pathophysiology and neurologic complications. 390 62

We describe a 74 year old man who showed the jaw opening phenomenon by painful stimuli from two months after the onset of basilar artery thrombosis. He was admitted to our hospital because of consciousness disturbance and paralysis of all extremities. Soon after admission, he was in a state of impending herniation but with conservative therapy he recovered slightly, and then fell into an akinetic and mute state. Two months after the onset of the stroke, he began to open his mouth in response to painful stimuli, and five months after the stroke palatal myoclonus also appeared. Neurological signs and symptoms five months after admission were as follows; he was akinetic, mute and always kept his eyes closed because of complete blepharoptosis due to oculomotor nerve palsy. Pupils were dilated and adducted. Bilateral light reflexes were absent and the oculocepharic reflex could not adduct the eyes inwardly. Bilateral corneal reflexes were present, facial reflexes were exaggerated and jaw reflexes were also active. All limbs were spastic and paralyzed, and no voluntary movement was observed. Deep tendon reflexes were active in all extremities, and bilateral plantar responses were extensor. Palatal myoclonus was recognized in his soft palate, lips, sternocleidomastoid and diaphragm. Its frequency was about 150 cycles per minute. CT scan revealed severe low density areas in the midbrain and bilateral posterior lobes. In cerebral angiography, the upper part of the basilar artery was completely occluded.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[A case of jaw opening phenomenon associated with basilar artery thrombosis]. 400 70

The convulsion and electroencephalographic patterns were examined on 2,625 subjects aged 60 and over. Of these, 2000 were consecutive autopsy cases. convulsion was noted in 4% of the 2,625 cases and the incidence of epilepsy was 0.076%. In 26.4% of 72 cases with cerebrovascular disorders who died during the past two years, convulsion was found, and the value indicated a remarkable increase compared with the previous report. Convulsion was noted most frequently in the acute state of cerebral apoplexy and myoclonus was most common. The prognosis of such cases was poor. The incidence of convulsion in 30 consecutive patients with brain tumor was 13.3%. On 20,000 electroencephalograms, the incidence of the typical spike and wave complex was less than 0.005%. No 6 and 14c/sec positive spike was recognized.
 ...
PMID:Convulsion in the aged. 679 71

Authors report a case of focal action myoclonus due to a localized hemispheric lesion. The woman had cardiac arrest complicated by ischemic stroke involving the left parietal region. Action myoclonus of the inferior right limb was the sole residual complaint, provoked by movement and maintenance of posture. Patient noted that myoclonus was worsened by carbamazepine and vigabatrin. EEG-EMG polygraphic study demonstrated action myoclonus and showed a particular EEG activity consisting in a volley of spikes on the vertex region during the right inferior limb movements. Contralateral movements did not elicit this activity. Pharmacological response to clonazepam, piracetam and alcohol was studied. A marked improvement of myoclonus was obtained with alcohol. Pathophysiology of this exceptional form of cortical action myoclonus is discussed.
 ...
PMID:[Myoclonus of focal action and localized hemispheric lesion. A polygraphic and pharmacological study]. 748 88

In the last 4 years much progress has been made in the understanding of mitochondrial disorders. Point-mutations, deletions and depletion of the mitochondrial genome are associated with disorders like Leber's disease, MERRF (Myoclonus Epilepsia with Ragged Red Fibers), MELAS (mitochondrial Myopathy, Encephalopathy, Lactic acidosis and Stroke-like episodes) and several others. Recently, mitochondrial dysfunctions have been also related to neurodegenerative disorders like Parkinson's disease and to aging. Since the brain depends mostly on mitochondrial energy supply, mitochondrial dysfunctions may affect the nervous system more severely than other tissues causing or worsening diseases and playing a role in the biological deterioration of aging. Furthermore, the mitochondrial energy supply is associated with the production of highly reactive oxygen species. Ninety-five percent of the molecular oxygen is metabolized within the mitochondria by the electron-transport chain so that mitochondria are highly exposed to oxidative stress which may damage selected neuronal populations. Oxygen radicals created during respiration induce mitochondrial dysfunction which accelerates the production of more deleterious species of oxygen. The latter step further increases mitochondrial malfunction, thus intensifying and perpetuating the cycle. These two mechanisms combined may lead to cell death in brain and other tissues with high metabolic rate. Therefore, in neurodegenerative disorders such as Parkinson's disease mitochondrial dysfunction and oxidative stress may cause or worsen the clinical features.
 ...
PMID:Oxidative stress and mitochondrial dysfunction in neurodegeneration. 784 18

Neurological manifestations are very common and can be the leading and/or presenting feature in organic acid disorders, sometimes in the absence of metabolic derangement. Review of the time course and presentation of neurological disease in organic acid disorders reveals characteristic clinical findings of ataxia, myoclonus, extrapyramidal symptoms, metabolic stroke and megalencephaly. A group of organic acid disorders presents exclusively with neurological symptoms. These include glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I), succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria), mevalonic aciduria, N-acetylaspartic aciduria (Canavan disease) and L-2-hydroxyglutaric aciduria. As a group these "cerebral" organic acid disorders appear to remain often undiagnosed and their true incidence is much less well-known than that of the "classical" organic acid disorders. Unfortunately, stringent guidelines for a clinical preselection of neuropaediatric patients to be investigated for organic acid disorders cannot be provided. Today, screening for neurometabolic disorders should be as comprehensive as possible and include determinations of amino acids, purines and pyrimidines and markers of peroxisomal function in addition to organic acid analysis.
 ...
PMID:Neurological manifestations of organic acid disorders. 795 96


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>