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

An autopsied case of Creutzfeldt-Jakob disease is reported. A 79-year-old Japanese female showed extrapyramidal sign (resting tremor, and rigidity) and dementia. She developed myoclonus and became akinetic within one year from the onset, and then died of pneumonia at age of 81. None of the members of her family had neuromuscular disorders. CT and MRI studies revealed progressive brain atrophy. Consecutive study of EEG did not reveal periodic synchronous discharges (PSD). Codon 129 polymorphism (Met/Val) and codon 180 point mutation (Val/Ile) were detected. The autopsy revealed spongiform change of cerebral cortex and negative Kuru plaques, confirming the diagnosis of Creutzfeldt-Jakob disease. Immunohistochemical study revealed weak synaptic prion staining. Western blot analysis showed positive Proteinase K resistant prion protein. Gene analysis of autopsied brain showed the same prion DNA polymorphism and mutation. The combination of codon 129 polymorphism and 180 point mutation might associate with an atypical clinical form of CJD, which shows the extrapyramidal signs at the onset, and negative PSD in EEG.
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PMID:[An autopsy-verified case of Creutzfeldt-Jakob disease with codon 129 polymorphism and codon 180 point mutation]. 761 52

We report a case of Creutzfeldt-Jakob disease in a 38-year-old man, transmitted by a cadaveric dural graft. In August 1985, he underwent cranial nerve decompression for hemifacial spasm and received a cadaveric dural graft for dural closure. He had been well until he began to complain of blurred vision and headache in May, 1990. He developed dementia, myoclonus and urinary incontinence over the subsequent 3 months. He was admitted to our hospital in August, 1990. On admission, he was somnolent and showed gait disturbance, myoclonus in extremities and elevated deep tendon reflexes symmetrically. The results of analysis of blood, urinary and cerebrospinal fluid were normal. The initial computed tomography (CT) and magnetic resonance imaging detected no abnormality. Electroencephalography showed typical periodic synchronous discharge (PSD). There was progressive worsening of his neurological symptoms, and this developed into mutism in September, 1990. CT, 11 months after clinical onset, showed marked enlargement of the ventricles and the sulci. In view of his rapid worsening clinical course, PSD findings on electroencephalography, and delayed progressive changes of CT findings, the diagnosis of CJD disease was made. The cadaveric dural graft was suspected as the cause of the patient's condition. Since Thadani et al reported the first case of CJD transmitted by cadaveric dural graft in 1988, 3 other cases have been reported. This is most likely the 5th reported case of Creutzfeldt-Jakob disease transmitted by cadaveric dural graft.
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PMID:[Creutzfeldt-Jakob disease transmitted by cadaveric dural graft: a case report]. 845 5

Little is known about the pathogenetic basis of characteristic symptoms in transmissible spongiform encephalopathies (TSEs) such as myoclonus and characteristic EEG hyperactivity. We investigated the GABAergic system and its subpopulations in mice inoculated with experimental scrapie (ME7, RML, 22A strains) and Creutzfeldt-Jakob disease (CJD; Fujisaki strain), to study damage to inhibitory neurons. Since recent studies have shown electrophysiological changes in prion protein (PrP) knockout mice, we also studied mice lacking or overexpressing the PrP gene. Antibodies against glutamic acid decarboxylase (GAD), parvalbumin (PV), calbindin (CB), and calretinin (CR) were used to stain GABAergic neurons, and isolectin-B4 to stain perineuronal nets around PV+ neurons. In scrapie infected mice, cortical PV+ neurons were severely reduced while CB+ and CR+ neurons were well preserved. In CJD inoculated mice, loss of PV+ neurons was severe and occurred very early after inoculation. PrP-/- and tg20 mice showed normal appearance of PV, CB, CR, GAD+ neurons and their neuropil, and of isolectin-B4+ perineuronal nets. The early, severe and selective loss of cortical PV+ neurons in experimental scrapie and CJD suggest selective loss of PV+ GABAergic neurons as important event during disease development, possibly as one basis of excitatory symptoms in TSEs.
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PMID:Severe, early and selective loss of a subpopulation of GABAergic inhibitory neurons in experimental transmissible spongiform encephalopathies. 980 71

A 68 year old woman with sporadic Creutzfeldt-Jakob disease is described, who neither showed characteristic EEG abnormalities nor a positive test of the neuronal protein 14-3-3 or neuron specific enolase (NSE) in CSF, despite a clinical presentation with ataxia of cerebellar type, rapidly progressive dementia, myoclonus, and marked hyperintense signal abnormalities in the deep cortical layers and the basal ganglia on T2 and diffusion weighted MRI. Moreover she showed atypical clinical features with a syndrome of inappropriate antidiuretic hormone (ADH) secretion (SIADH) and a peripheral sensorimotor polyneuropathy. Whether these disturbances are independent of Creutzfeldt-Jakob disease or a feature of it is discussed. It has recently been shown that in Creutzfeldt-Jakob disease different clinical and pathological phenotypes correlate with the polymorphism at codon 129 of the prion protein gene (PRNP) and the type of the protease resistant fragment that accumulates in the brain. According to the new classification at least six sporadic variants of Creutzfeldt-Jakob disease exist. The molecular genetic analysis showed heterozygosity of PRNP at codon 129 for methionine and valine and the presence of PrP(CJD) type 2 in the brain of this patient. As a new feature of changes on MRI, striking cortical changes of hyperintense signals are described in diffusion weighted as well as T2 weighted MRI that directly correlate with the histomorphological spongy degeneration of the brain in this region. In cases of rapidly progressive dementia, Creutzfeldt-Jakob disease always needs to be considered even if unusual features are present and current diagnostic criteria are not in favour of this disease.
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PMID:Clinical range and MRI in Creutzfeldt-Jakob disease with heterozygosity at codon 129 and prion protein type 2. 1051 81

A 68-year-old man was hospitalized on 24 June, 1998 because of visual and gait disturbance. A month before admission, he had been aware of blurred or double vision while watching TV. A few days later, he developed dysphagia and clumsiness in the fingers. His gait became unstable and he exhibited restless finger movements. His shoulders and trunk showed torsion while walking. On admission, he became disoriented and showed rigidity in the legs and athetosis in the bilateral fingers. Routine laboratory findings, thyroid function data, and the serum levels of vitamin B1, B12, Cu, and ceruloplasmin were within the normal ranges. Periodic synchronous discharges (PSD) were observed on electroencephalography. MRI showed T2-high intensity and atrophy of the bilateral caudate nucleus and putamen in addition to the cerebral cortex. 99mTc-ECD-SPECT showed a decrease of local blood flow in the bilateral frontal, right temporal, and bilateral parietal lobes and bilateral thalami. Athetosis became exacerbated and was observed for a month, overlapping with myoclonus. We diagnosed the patient as having CJD because of progressive dementia, myoclonus and PSD. Analysis of the prion protein revealed that codon 129 was Met/Met and codon 219 Glu/Glu by DNA sequences. The patient developed akinetic mutism and rigid contracture, and died of pneumonia on 5 September, 1998. Because athetosis is thought to involve the bilateral caudate nucleus, putamen and thalamus, the findings of diagnostic imaging in this patient might be relative to the clinical symptoms.
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PMID:[A case of Creutzfeldt-Jakob disease exhibiting athetosis in the early stage]. 1055 90

Until recently, the clinical diagnosis of CJD relied mainly on three criteria. These include patient history (rapidly progressive dementia), neurological findings (ataxia, pyramidal/extrapyramidal signs, myoclonus, akinetic mutism) and typical electroencephalographic (EEG) findings. These criteria are fulfilled in typical cases. The occurrence or increase of certain proteins in cerebrospinal fluid (CSF; 14-3-3, neuron-specific enolase) now provide important adjuncts in recognizing variant forms. Although these proteins can be detected in other neurological diseases accompanied with substantial brain damage such as encephalitis, they are also characterized by their high sensitivity and specificity with regard to other dementing processes (Alzheimer and vascular dementia). The increase in the number of positive cases during the last years in Germany reflects an improved case ascertainment rather than the appearance of the variant CJD (vCJD). Although several recent cases with a long duration of the disease were actually recognized, they did not reveal the typical florid plaques at autopsy. They were revealed as a rare variant of sporadic CJD, which is characterized by homocygosity for valine at codon 129 and PrP(Sc) type 1. This variant is positive for the 14-3-3 protein in CSF. Further subtypes described by Parchi et al. can also be characterized by a certain pattern of clinical symptomatology, EEG- and 14-3-3-findings. In addition, differential diagnosis revealed some treatable dementias among the most common diseases (Alzheimer and vascular dementia) such as herpes encephalitis, multiple sclerosis and Hashimoto encephalitis, particularly in the younger age group.
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PMID:Clinical and differential diagnosis of Creutzfeldt-Jakob disease. 1121 18

A 30-year-old woman presented with ataxic gait and progressive mental deterioration, and 3 years later developed myoclonus in the limbs. Subsequently, she lapsed into an akinetic state and died more than 6 years after the onset of disease. The brain weighed 670 g, and preferential degeneration was found in the medial thalamus and the inferior olivary nucleus. In the cerebrum and cerebellum, gliosis and neuronal depletion were only mild and disintegration of the parenchymal structures was inconspicuous, despite pronounced atrophy. The patient had methionine homozygosity at codon 129 of the PrP gene and protease-resistant PrP type 2 in the brain. On PrP immunostaining, plaque-like deposits were detected in the cerebral and cerebellar cortices. Severe brain atrophy such as in the present case has never been described in the thalamic variant of sporadic CJD.
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PMID:Severe brain atrophy in a case of thalamic variant of sporadic CJD with plaque-like PrP deposition. 1139 79

Since the spring of 1997, when the Neurology Department of the University Hospital of Crete admitted its first patient, nine cases (eight neuropathologically confirmed and one probable) of sporadic Creutzfeldt-Jakob disease (sCJD) have been recorded. This represents an annual incidence five-fold higher than expected based on the island's population (0.54 million). Molecular analysis of the prion-protein gene (PRNP) showed no mutations in any of the seven CJD cases studied. Five patients (ages 64-88 years) were homozygous for methionine-129 of PRNP and showed the classic sCJD triad (subacute dementia, myoclonus, periodic electroencephalogram). Brains contained type 1 (unglycosylated 21.5 kDa band) protease-resistant prion protein (PrPres). Two patients (ages 56 and 57 years), both homozygous for valine-129, showed cerebellar ataxia and later dementia not associated with periodic electroencephalogram; brain PrPres was type 2. Genotyping of 205 Cretan controls showed that methionine-129 homozygosity, a susceptibility factor for sCJD, was significantly higher in this population than in other Caucasian populations (57.0% n = 205 vs. 41.5% n = 859, p < 0.0001). These data are the first to relate a high regional incidence rate for sCJD to the distribution of PRNP 129 genotypes in the local population; however, additional factors may be operational.
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PMID:Increased incidence of sporadic Creutzfeldt-Jakob disease on the island of Crete associated with a high rate of PRNP 129-methionine homozygosity in the local population. 1150 6

The most widely distributed form of transmissible spongiform encephalopathy, sporadic Creutzfeldt-Jakob disease, typically affects patients in their sixties. Rapidly progressive dementia is usually followed by focal neurological signs and typically myoclonus. The disease duration in sporadic CJD is shorter than in variant CJD (6 months and 14 months, respectively). The clinical diagnosis in sporadic CJD is supported by the detection of periodic sharp and slow wave complexes in the electroencephalogram, hyperintense signals in basal ganglia on magnetic resonance imaging and elevated levels of neuronal proteins in the cerebrospinal fluid (such as 14-3-3). In contrast to the sporadic form, hyperintense signals in the posterior thalamus ("pulvinar sign") are seen in variant CJD. Following recent developments in diagnostic premortem techniques, clinical criteria for probable sporadic and probable variant CJD were established. Clinicopathological studies on sporadic CJD revealed different phenotypes which are characterized by neuropathological lesion profile, clinical syndrome, codon 129 genotype and type of proteinase K-resistant core of the prion protein. Alzheimer's disease and Lewy body dementia are the most frequent differential diagnoses in sporadic CJD in elderly patients, whereas chronic inflammatory disorders of the central nervous system have to be considered in younger patients.
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PMID:Clinical diagnosis and differential diagnosis of CJD and vCJD. With special emphasis on laboratory tests. 1206 60


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