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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bismuth encephalopathy, characterized by the constant association of acute confusion, myoclonus, severe ataxia and dysarthia has reached "epidemic" proportion since its first description in 1974. The clinical aspects the pathogenic hypothesis, the diagnostic criteria as well as the report of a typical case are described by the authors, who stress the similarities with encephalopathies induced by other metals.
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PMID:Bismuth encephalopathy. 100 97

Two postmortem case of multiple sclerosis treated by sterotactic operations for the intention shaking of limbs, trunk, and head, and for the action myoclonus are analyzed to determine the location of the substrate of myoclonic and ballistic movements, the location of the coagulations for relief of these movements, and whether fresh demyelinating foci are elicited by intracerebral interventions. In the first case of a clinically typical multiple sclerosis, the foci responsible for the severe action myoclonus and intention ataxia of the trunk are demyelinations in the right and left red nucleus resulting in nerve cell damage and loss and an almost complete destruction of myelinated fibers. The restricted foci in the white matter of the cerebellum which do not involve the cerebellar nuclei are not extensive enough or old enough to be the cause of the action myoclonus but may, perhaps, sustain the pathogenesis. - In the second case of cerebral palsy and combined multiple sclerosis (detected post mortem), the combination of the severe damage of putamen and caudate nucleus by status marmoratus and the extensive nerve cell and fiber damage due to demyelinating foci in the substantia nigra are probably the substrate of the jactitation and intention myoclonus of the left limbs. The stereotactic coagulation of the dentatothalamic and pallidothalamic fibers in the base of V. o.p. and V.o.a. at the point where they pass through the zona incerta (location confirmed post mortem) resulted in a nearly complete relief of hyperkinetic movements. In the first case, fresh demyelinating foci are present in both hemispheres with stereotactic interventions; these foci are located, amongother places, around the coagulation and the electrode track. In the second case, post mortem serial brain sections demonstrate that stereotactic operations even in subacute multiple sclerosis can be carried out without eliciting any exacerbation of demyelination foci. Therefore, the danger exists that stereotactic intervention in cases of multiple sclerosis may precipitate fresh demyelinating foci. As our clinical experience [Riechert and Richter, 1972a, b] indicates, however, this occurred in markedly less than 10% of the cases.
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PMID:Pathologic-anatomical findings and cerebral localization in stereotactic treatment of extrapyramidal motor disturbances in multiple sclerosis. 109 87

A patent, who suffered from nonprogressive athetotic-myoclonic hyperkinesia of the left arm and spastic paresis of the underdeveloped left leg since early childhood, experienced a febrile episode at the age of 23, after which a weakness and ataxia of the right limbs with frequent falling persisted; at the age of 28, he developed a right-sided rigidity, tremor at rest and mask-like face as sequelae of encephalitis disseminata exacerbations. The violent intention myoclonus of the left side of the body could be abolished by stereotactic coagulation in the V.o.p and V.o.a and zona incerta until death 11 days later. The athetotic myoclonic hyperkinesia is the consequence of a left-sided severe status marmoratus of the right putamen with extensive loss of nerve cells and shrinkage. The additional nerve cell loss in the right substantia nigra due to demyelinating encephalitic foci did not produce Parkinson symptoms, because these require a normal striatum. This loss did, however, exaggerate the original hyperkinesia to a violent intention myoclonus, which was abolished by interruption of denatatothalamic afferents to the V.o.p nucleus and of pallidothalamic afferents to the V.o.a nucleus. The Parkinson syndrome of the right side is due to demyelinating foci of different ages. The Parkinson symptoms were manifest on the right side, because the left status marmoratus did not severely reduce the striatal nerve cells. In this case, there is no indication that the introduction of the stereotactic electrode has precipitated new demyelinating foci.
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PMID:Stereotactic treatment of action myoclonus in a case of combined status marmoratus and multiple sclerosis. A contribution to the pathophysiology of basal ganglia with multiple lesions in both the striatum and the substantia nigra. 109 75

An account is given of a form of hereditary, cerebellar ataxia and photomyoclonus. Eight cases from 5 generations were affected. The disease seemed to be transmitted as an autosomal dominant trait. The age at onset usually varied between 35 to 40 years. The symptoms and signs consisted of a cerebellar ataxia, dysarthria and intention tremor. There was no nystagmus. All patients exhibited photomyoclonus and were extremely sensitive to photic stimuli. Other signs were dementia, kyphosis, pes cavus and lipoma localized in the nape of the neck, shoulders and back. Two patients had a partial syndrome with photonyoclonus and skeletal deformities. None of the patients suffered from epilepsy, In one case, histopathological examination revealed atrophy within the cerebellar cortex, dentate nucleus and the posterior columns of the spinal cord. It is concluded that this syndrome belongs to a groups of hereditary ataxias and myoclonus, and differs from myoclonic cerebellar dyssynergia (Ramsay Hunt) and alos from a variety of familial myoclonus and ataxia (Gilbert et al. 1963);
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PMID:Hereditary ataxia, photomyoclonus, skeletal deformities and lipoma. 113 Jan 71

Three cases (case 1, female, aged 30; case 2, male, aged 32; case 3, male, aged 34) of benign brainstem encephalopathy with truncal ataxia were reported. Two patients had prodromal symptoms Neurological examination revealed truncal ataxia in all cases. As additional neurological signs, anisocoria, mydriasis, nystagmus, ptosis, transient opsoclonus, and facial palsy were seen. There was neither drowsiness nor myoclonus in the three cases. On laboratory examinations, cold agglutination test revealed significant elevation in two cases. The examination of cerebrospinal fluid showed a moderate rise of proteins in one case, but did not revealed pleocytosis in any of the cases. Magnetic resonance imaging of one patient revealed an area of high intensity in the left pontine tegmentum by T2-weighed imaging. The prognosis for all these cases was good, and the reappearance of neurological signs was not present until now. Our cases were different from brainstem encephalitis (Bickerstaff's encephalitis) because of an absence of disturbed consciousness and no pleocytosis in the cerebrospinal fluid. Our cases were also different from "myoclonus-opsoclonus syndrome" because of an absence of myoclonus. We discussed a possibility of a new clinical syndrome which we call "benign brainstem encephalopathy with truncal ataxia".
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PMID:[Benign brainstem encephalopathy with truncal ataxia--a clinical study of 3 cases]. 128 89

We describe eight patients from three families presenting with myoclonus, ataxia, infrequent seizures and minimal intellectual impairment. All were Arabs from different parts of the Arabian peninsula. The new consensus on terminology, genetic and clinical definition of Baltic myoclonus, Ramsay Hunt syndrome and Unverricht-Lundborg disease suggests that our group are best categorised under the term of progressive myoclonic ataxia of the Unverricht-Lundborg type. Moreover, this report reinforces the existence of this syndrome outside Scandinavia.
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PMID:Progressive myoclonic ataxia without ragged red fibres: Unverricht-Lundborg disease vs Ramsay Hunt syndrome. 133 90

Neuropathological study of the visual pathway from the retina to the occipital cortex in Creutzfeldt-Jakob disease (CJD) has been scarcely performed. In the present study, pathological involvement of the visual pathway was observed in a 54-year-old man with CJD. The patient had the onset of visual disturbances in December 1985. He subsequently developed progressive dementia, right hemiparesis, ataxia and dysarthria, and rapidly fell into decerebrate posture in February 1986. In March 1986, myoclonus appeared on the whole body and EEG revealed periodic synchronous discharges, while brain CT and CSF findings showed no abnormalities. Myoclonus was observed most frequently from May to October 1986, and then reduced gradually. Brain atrophy on CT started from April 1986, and was progressive till the end stage of the disease. He died in January 1988, and the total clinical course was about 24 months. Neuropathological examination revealed severe degeneration of the cerebral cortex and the white matter. In the cerebral cortex, marked loss of neurons, astrogliosis, and spongiform changes were observed. In the cerebral white matter, the destruction of myelin sheaths and axons were evident. The cerebellum showed prominent loss of granule cells. These findings are consistent with those of the panencephalopathic type of CJD. In the visual pathway, loss of ganglion cells and bipolar cells in the retina, mild demyelination of the optic nerve, neuronal loss in the lateral geniculate body, and severe degeneration in the visual cortex were observed. The present case suggests that the neuropathological investigation in the visual pathway from the retina to the occipital cortex is important for clarifying the pathological processes in the visual system in CJD.
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PMID:[A case of the panencephalopathic type of Creutzfeldt-Jakob disease with retinal involvement]. 142 8

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

A 21-year-old woman, who had no particular familial history, was admitted to our hospital because of hand tremor and gait disturbance. On neurological examination, she showed muscle weakness in the proximal extremities. There was an ataxia on heel-to-shin testing. Action and postural myoclonus involving the extremities were also noted. In addition, with dorsiflexion of the hands, asterixis-like movement was manifested. Pyruvate was 1.0 mg/dl and lactate was 24.1 mg/dl in cerebrospinal fluid. Brain CT scan revealed mild cerebellar atrophy. EEG showed synchronous diffuse slow wave. Median nerve SEPs showed a large N20-P25 component (20 microV). Median nerve C-reflex was not evoked. With dorsiflexion of the hands, the asterixis-like movement was induced with brief cessation of surface EMG activity in the forearm muscles, as shown by the accelerometer trace. Biopsy specimens of the biceps brachii muscle revealed numerous ragged-red fibers. By PCR-RFLP method with use of a mismatched primer, we analyzed mitochondrial DNA extracted from peripheral leukocytes. The A to G mutation at nucleotide position 8,344 in a tRNA(Lys) gene of a mitochondrial genome was detected. In this patient, clonazepam was effective on the asterixis-like movements. From existence of positive myoclonus, giant SEPs and efficacy of clonazepam, we considered this movement to be negative myoclonus. Our study indicated the possibility that such an involuntary movement could be induced by certain posture in patients with MERRF.
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PMID:[Myoclonus epilepsy associated with ragged-red fibers--report of a patient with negative myoclonus]. 149 Mar 14

A mother and two of her daughters had deafness and cortical reflex myoclonus; the mother also had mild truncal ataxia. Muscle and skin biopsy specimens revealed abundant ragged-red fibres and abnormal mitochondria. The son of one of the daughters had sensorineural deafness. Three other grandchildren were asymptomatic. The two daughters also had diabetes mellitus, hypertension and cardiomyopathy. Another daughter died of renal failure. The mother lost her hearing in her 70s, one daughter in her 30s, and the other daughter and the grandson in their 20s. The mother has had transient episodes (24-48 hours) of temporal disorientation, severe action myoclonus, and ataxia for about eight years. This is the first reported family with inherited deafness, myoclonus, and ataxia with mitochondrial pathology.
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PMID:Abnormal muscle and skin mitochondria in family with myoclonus, ataxia, and deafness (May and White syndrome). 153 18


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