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)

Fifty-five consecutive cases of myoclonus owing to various etiologies were studied by conventional EEG-EMG polygraphic recordings and/or jerk-locked or back averaging. The technique of back-averaging was shown to be useful not only for detecting EEG correlates of myoclonus that are not recognizable on the routine polygraph but also for investigating the temporal and topographic relationship between the EEG activities and myoclonus. Thirteen of 17 cases of PME and related disorders, in whom back-averaging and SEP were studied, were shown to have both a myoclonus-related cortical spike over the contralateral central area, preceding the myoclonus of an upper extremity by 6 to 22 msec, and a giant SEP accompanied by an enhanced C reflex. In these cases of "cortical reflex myoclonus," the myoclonus-related spike was similar to the P25-N33 components of the giant SEP in its wave form, scalp topography, temporal relationship to myoclonus or to C reflex, succeeding cortical excitability, and drug effect. All of this suggests participation of common physiological mechanisms in those two activities. In two cases of PME, in which myoclonus involved bilateral proximal muscles synchronously, the myoclonus-related spike was maximal near the vertex, and there was no giant SEP. The significance of this subgroup remains undetermined. In six cases of the PME group, back-averaging was inapplicable because of rare occurrence of myoclonus, but they showed a typical giant SEP accompanied by an enhanced C reflex. In CJD, back-averaging demonstrated a sharp wave or PSD over the contralateral hemisphere, preceding the myoclonus by 50 to 85 msec. This form of myoclonus seems to be subcortical in origin. In essential myoclonus and oculopalatal-somatic myoclonus, there was neither myoclonus-related cortical spike nor giant SEP. Electrical stimulation of the peripheral nerve at variable intervals after the myoclonus onset (jerk-locked-SEP paradigm) was shown to be useful for investigating the influence of myoclonus on cortical excitability.
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PMID:Electroencephalographic correlates of myoclonus. 308 Aug 53

We report a 61-year-old male with rapidly progressive dementia and gait disturbance. He was well until spring 1990 as a postmaster, when there was an onset of memory disturbance and mistakes in his job. In May 1990, his wife noted slurring of his speech. In August, there was an onset of gait disturbance. He fell down frequently. In October, he was seen by a neurologist, who found moderate dementia, small step gait, retropulsion, freezing, paratonic rigidity, bradykinesia and a restriction in the vertical gaze on him. His dementia and gait disturbance progressed rapidly and in May 1991, he developed fever and dyspnea and was admitted to Juntendo University Urayasu Hospital. On admission, he was chronically ill and wheezing rale was heard on both lung fields. Neurologically, he was awake but without response to the simplest examiner's command. Cranial nerves appeared intact except for a restriction in the upward gaze. His posture was opisthotonic with a decorticated posture. Marked rigidity was present in all four limbs. He could not sit or stand. Deep reflexes were diminished symmetrically. He was treated by supportive cares, however, he expired 12 days after his admission. In no time myoclonus was observed, nor PSD recorded in his EEG. Cranial CT scans revealed moderate cortical atrophy. The patient was discussed in a neurological CPC, and the chief discussant arrived at the conclusion that he had Creutzfeld-Jakob disease despite the absence of myoclonus and PSD. Postmortem examination revealed diffuse spongy state of the cerebral hemisphere as well as striatum.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A 61-year-old man with rapidly progressing dementia and gait disturbance]. 839 90

A case of Creutzfeldt-Jakob disease (CJD) is reported in a 48-year-old woman who had received a cadaveric dural graft after a clipping procedure of a cerebral artery aneurysm in September 1985. In November 1994, she noticed unsteady gait and blurred vision at first. She successively developed ataxic gait, dementia and myoclonus, and became mute. Serial CT scans revealed no abnormal findings, and serial EEGs showed diffuse slow activity without periodic discharge. The patient died in March 1996, 17 months after the initial symptoms. A brain autopsy demonstrated extensive spongiform degeneration in the cerebral neocortex, thalamus, striatum, and cerebellum especially in the granular layer, with associated astrocytosis and marked neuronal loss. Immunohistochemically, PrP plaques, so called kuru-type plaques, were extensively distributed throughout the cerebrum and cerebellum. Moreover, some of these plaques resembled "florid" plaques, which were surrounded by a zone of spongiform change. The PrP gene analysis of her blood and brain tissue revealed no mutations with homozygosity, Met/Met, at codon 129. The unusual features of this case, that is the absence of PSD on EEG and the widespread presence of kuru-type plaques including "florid" plaques, may be similar to the features of "new variant" CJD.
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PMID:[Creutzfeldt-Jakob disease with a widespread presence of kuru-type plaques after cadaveric dural graft replacement. An autopsy case]. 943 Sep 98

Juvenile onset Creutzfeldt-Jakob disease with the history of neurosurgical operation: a case report A 15-year-old boy gradually developed gait disturbance and dementia. After three months, his condition was deteriorated and he became a state of akinetic mutism. Then, he was transferred to our hospital. He had a history of neurosurgical operation for arterio-venous malformation in his right occipital lobe at the age of five. He showed myoclonus, periodic synchronous discharges in electroencephalogram, and a high cerebrospinal fluid level of neuron-specific enolase. He also revealed progressive brain atrophy by CT examination. He was diagnosed as having Creutzfeldt-Jakob disease (CJD). We could not detect gene mutation of prion protein. As far as we know, this is the youngest case of CJD in Japan. He is too young for the sporadic form of CJD. So the possibility of new variant form of CJD or iatrogenic CJD was considered, the former having been reported in England and the neighboring countries in Europe. However, new variant form of CJD was less likely because of the presence of definite PSD in EEG and the absence of the history of his stay in England. The relationship between the CJD onset and the neurosurgical operation was suggested, but no evidence such as frozen dura matter graft was proved.
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PMID:[Juvenile onset Creutzfeldt-Jakob disease with the history of neurosurgical operation]. 1100 23

An old antimalarial drug quinacrine is one of the compounds that can inhibit the accumulation of pathogenic prion protein in cultured neuroblastoma cells. Here we report the result of a clinical trial of quinacrine administration to a patient with Creutzfeldt-Jakob disease (CJD). A 37-year-old woman was admitted to our hospital for ataxic gait, hallucination and dementia in August 2001. As a past history she had received an operation for cerebellar astrocytoma and had a cadaveric dura mater graft at 14 years old. After hospitalization she showed signs of anxiety, stimulus-sensitive myoclonus, decorticate rigidity, then deteriorated pursuit eye movement and voluntary limb movement. The ethics committee of Dokkyo University hospital approved this treatment, and the family of the subject was fully informed as to the nature and purpose of the treatment and gave their consent. One week after the administration of 300 mg/day of quinacrine, voluntary limb movement and pursuit eye movement appeared. There was PSD on EEG, but one week after administration of the quinacrine, PSD disappeared, and a theta wave was recognized as the basic activity on the EEG. But her symptoms deteriorated again after 3 weeks, and PSD appeared. Liver dysfunction developed 2 months after administration, and the administration of quinacrine had to be stopped. Quinacrine was administrated to a CJD patient who received a cadaveric dura mater graft and developed CJD 23 years later. The symptoms of the patient were transiently improved with the disappearance of PSD on EEG. Although the mechanism of quinacrine for the central nervous system is still unclear, this case suggests that quinacrine may be clinically one possible drug for treating CJD.
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PMID:[Quinacrine administration to a patient with Creutzfeldt-Jakob disease who received a cadaveric dura mater graft--an EEG evaluation]. 1458 66

A 69-year old man developed subacutely progressive dementia, inactivity, and gait disturbance. On admission, he showed flutter-like oscillation of the bilateral eyes and myoclonus with upper extremities. Cerebrospinal fluid (CSF) analysis revealed elevation of protein (73.2mg/dl) and the positive 14-3-3 protein. An electroencephalogram (EEG) revealed diffuse slowing (2-3Hz, 80microV). Brain MRI showed high intensity lesions in the white matter and left thalamus on FLAIR and diffusion imaging. We first suspected Creutzfelt-Jakob disease (CJD), but his symptoms didn't progress and showed no PSD on EEG. Oral corticosteroid therapy (prednisolone 60mg/day) brought him remarkable recovery corresponding with improvement of CSF and EEG findings. Despite of etiology unknown, we made a diagnosis of steroid-responsive encephalopathy.
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PMID:[A case of steroid-responsive encephalopathy with positive 14-3-3 protein of the cerebrospinal fluid clinically resembling Creutzfelt-Jakob disease]. 1551 6

There have been identified 1051 cases of prion dsease in Japan since 1999 by the surveillance committee, of which idiopathic prion disease held 77.8%, hereditary 15.9% and infectious 6.6%. Idiopathic prion disease is sporadic Creutzfeldt-Jakob disease (sCJD) and most sCJD cases were classified into MM1 presenting with classical clinical features. MM2, MV2, VV1 and VV2 sCJD cases were rare and showed atypical features including prolonged course, lack of myoclonus and absence of PSD. In such occasions, high signal intensities on DW-MRI as well as increased 14-3-3 and tau proteins in CSF were very helpful. MM2 tharamic sCJD may lack all these laboratory findings but reduction of tharamic CBF in SPECT or PET would support the diagnosis. Hereditary prion disease are classified into 3 major phenotypes such as familial CJD, Gerstmann-Straeussler-Scheinker disease (GSS) mainly showing spinocerebellar ataxia, and fatal familial insomunia. While there have been known many mutations of prion protein gene, only V180I (fCJD), E200K (fCJD), M232R (fCJD) and P102L (GSS) mutations were common. Because most cases did not have family history, genetic test is mandatory in all the cases of prion disease including seemingly "sporadic" CJD. All the cases but 1 case of variant CJD were dura-grafted CJD in infectious prion disease.
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PMID:[Prion disease--the present status and recent progress in Japan]. 1919 1