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)

Chronic Creutzfeldt-Jakob disease, presenting in later life, may be difficult to distinguish from other dementing illnesses. Patients with this disease may lack the characteristic myoclonus and electroencephalographic complexes. We report four patients with a slowly progressive dementia who were misdiagnosed during life and had a spongiform encephalopathy at autopsy. All four patients had early extrapyramidal rigidity, primitive reflexes, and other neurologic signs. The presence of these neurologic findings early in the course of a dementia suggests that clinicians should consider chronic Creutzfeldt-Jakob disease, evaluate the patient with electroencephalographic studies, and emphasize universal tissue precautions.
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PMID:Clinical characteristics of chronic Creutzfeldt-Jakob disease. 782 87

A 64-year-old man presented with a three day history of progressive Broca's aphasia, followed within 3 weeks by exclusively right-sided myoclonus, rigidity, and dystonia. Within 4 weeks he was globally aphasic. He died within 7 weeks of onset. In the final week, rigidity and myoclonus became bilateral. CT and MRI were normal. SPECT showed diminished perfusion of the left hemisphere. EEG showed periodic discharges on the left. At autopsy, there were marked cortical spongiform change, neuronal loss, and gliosis throughout the left hemisphere and in the right occipital cortex. Elsewhere in the right hemisphere, spongiform change was non-existent to minimal. There was moderate spongiform change in the molecular layer of the cerebellar cortex, much more marked on the left. Clinical and pathological unilateral cerebral predominance extended to the ipsilateral cerebellum. Creutzfeldt-Jakob disease is an important consideration in patients with rapidly progressive unilateral cerebral signs associated with a movement disorder.
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PMID:Unilateral Creutzfeldt-Jakob disease presenting as rapidly progressive aphasia. 787 20

We present three patients with Creutzfeldt-Jakob disease (CJD). They lived in Fuji city and its neighboring towns in the eastern part of Shizuoka prefecture. Patient 1 and patient 2 were cousins. Patient 1 developed the illness at the age of 50 in 1987 and died 13 months later. Patient 2 became ill at the age of 73 in 1989 and died seven months later. Patient 3 was related to a familial CJD cases in Yamanashi prefecture, known as Akai's "H" family (Akai et al in 1979, Yamamoto et al in 1986). She became ill at the age of 78 in 1990 and died four months later. Their clinical features were common; rapidly progressive dementia, generalized myoclonus, and periodic synchronous discharges on electroencephalographies. They were autopsied and neuropathologically diagnosed as typical CJD. Molecular genetic analysis of the prion protein (PrP) gene was performed on patient 2 and patient 3 using their frozen brain sections. The results showed a point mutation in the PrP gene at codon 200; GAG to AAG (Glu-->Lys). The eastern part of Shizuoka prefecture is adjacent to Yamanashi prefecture where a large number of patients with CJD including familial cases has been found during the recent 15 years. This study suggests that the patients with CJD in both Yamanashi and Shizuoka prefecture should be re-evaluated by analysis of the PrP gene.
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PMID:[Three patients from two families with familial Creutzfeldt-Jakob disease having a point mutation in the prion protein gene at codon 200 (Glu-->Lys)]. 791 45

Three autopsy cases of panencephalopathic type of familial Creutzfeldt-Jakob disease (CJD) were investigated. Cases 1 (51-year-old male) and 3 (54-year-old female) were siblings and Case 2 (68-year-old female) was their aunt. In cases 1 and 3, the age of onset (Case 1:51, Case 3:53), duration of illness (Case 1:9 months, Case 3:8 months) and neuropsychiatric symptoms (pyramidal and extrapyramidal tracts involvements, blindness and dementia in chronological order) were similar, but in Case 2, the onset was later (66 years old), duration was longer (32 months) and the initial symptom was dementia. Myoclonus and apallic state in the terminal stage were common to all 3 cases. Neuropathologically, all 3 cases had characteristics that indicated panencephalopathic type of CJD. Cases 1 and 3 had similar neuropathological findings with characteristic circumscribed necrotic foci in the subcortical white matter. In Case 2 in contrast, diffuse demyelination and fibrillary gliosis in the cerebral white matter were observed without circumscribed necrotic foci. In the cerebellum of Case 3, granular cell loss was very slight. The other lesions in the cerebral cortex and striatum of the 3 cases were common. In conclusion, the clinical symptoms and neuropathological findings of our familial CJD cases were different from one another.
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PMID:Familial Creutzfeldt-Jakob disease: three autopsy cases of the panencephalopathic type. 795 63

A 50-year-old woman with subacute dementia and brain atrophy on CT showed periodic synchronous discharge (PSD) on electroencephalogram (EEG) and myoclonus. She was initially suspected of suffering from Creutzfeldt-Jakob disease (CJD), but dramatically recovered over 5 months. Based on further investigations, the final diagnosis was mitochondrial encephalomyopathy with an A-to-G substitution at nucleotide position 3243 in mitochondrial DNA (mtDNA), commonly seen in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). This case suggests that patients suspected of suffering from CJD should be evaluated for mitochondrial encephalomyopathy.
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PMID:A MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) mtDNA mutation that induces subacute dementia which mimicks Creutzfeldt-Jakob disease. 800 Jan 5

This report describes the pathological changes observed in the brain of a 18-year-old patient who died with Creutzfeldt-Jakob disease (CJD) of the ataxic and panencephalopathic type. Clinically, the disease began at age 17 with a rapidly progressive cerebellar syndrome, associated with myoclonus and mental deterioration. Cranial CT scan and MRI showed minor abnormalities. EEG demonstrated non specific changes. The patient became progressively demented, bedridden and died 10 months after the onset. Nine years earlier, he had been operated upon for craniopharyngioma and subsequently treated with cadaver-derived human growth hormone. Post-mortem examination of the brain revealed mild diffuse atrophy. Histology showed congophilic amyloid plaques found in both gray and white matters of the cerebrum and cerebellum, associated with spongiosis, mainly in the basal ganglia and cerebellum, and gliosis. They were immunostained with antiprion protein antibody using the immunoperoxidase method on paraffin embedded sections. The clinical findings in this case were similar to those of other cases of human growth hormone-associated CJD. However, this case is unusual because of the great number of amyloid plaques, which have been only rarely found in previous reports.
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PMID:[Creutzfeldt-Jakob disease after treatment with human extracted growth hormone. A clinicopathological study]. 802 64

Four patients who received dural grafts of cadaveric origin in the course of posterior fossa procedures subsequently developed Creutzfeldt-Jakob disease (CJD). The interval from dural placement to clinical onset of CJD ranged from 16 months to nine years. Initial clinical presentation consisted of cerebellar symptoms, with dementia and myoclonus developing in later stages of the disease. EEGs showed diffuse slowing that evolved to a periodic activity pattern. CT and MRI were unremarkable in the early stages but pronounced cerebral and cerebellar atrophy with widened sulci and collections of fluid over the convexities were seen in the late stages of disease. The diagnosis was histologically proved by brain biopsy in all four cases. Molecular genetic analysis showed that the four patients were homozygous for methionine at codon 129 of the PrP gene. From this experience, and from six previous descriptions of this occurrence in the literature, it is manifest that awareness of the means of iatrogenic transmission of CJD, and the adoption of preventive measures, constitute the only effective way to stop the spread of CJD among patients who have neurosurgery.
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PMID:Accidental transmission of Creutzfeldt-Jakob disease by dural cadaveric grafts. 808 76

Sleep-related disorders are revisited in the light of the physiological modality of NREM sleep expressed by the cyclic alternating pattern (CAP). Owing to its fluctuating properties on vigilance, muscle tone, and vegetative activities, CAP represents a highly favorable condition for the occurrence of interictal generalized and focal lesional EEG discharges, for motor seizures, and for periodic jerks in nocturnal myoclonus. All these manifestations are significantly associated with the components of activation during CAP, i.e., the A phases. On the contrary, the B phases of CAP appear chronologically linked to inhibitory phenomena in epileptic patients and in nocturnal myoclonus. The two phases of CAP seem especially involved in sleep apnea syndrome, where respiration is interrupted during a phase B and restored during a phase A. CAP rate, that measures the effort of the brain to maintain sleep, is increased by all conditions that induce vigilance instability such as noise, clinical insomnia, interictal EEG paroxysms, nocturnal seizures, periodic leg movements, and in certain extreme pathologic conditions such as Creutzfeldt-Jakob disease and stage 2 coma.
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PMID:Clinical applications of cyclic alternating pattern. 824 61

Massive abnormalities of parvalbumin-immunoreactive cortical neurons were observed in the cerebral biopsy samples of 3 patients with Creutzfeldt-Jakob disease. Immunoreactive cells had reduced and short, often fragmented, dendrites, and large numbers of dendritic varicosities were observed. Since parvalbumin-immunoreactive neurons are the most important inhibitory cells in the cerebral cortex, the damage to these neurons may account, in part, for the impaired cortical function, and may play a role in the appearance of myoclonus and electroencephalographic patterns in patients with Creutzfeldt-Jakob disease.
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PMID:Parvalbumin-immunoreactive cortical neurons in Creutzfeldt-Jakob disease. 825 May 37

Dyskinesia, here, is considered to be synonymous with abnormal involuntary movement (AIM). AIMs are recognized in various infections of the central nervous system, of which Creutzfeldt-Jakob disease (CJD) and subacute sclerosing panencephalitis (SSPE) are thought to be the most important. The two show myoclonus and other similar features in common except age of onset. The myoclonus is classified under the non-stimulus-sensitive and periodic one characterized by a long duration and a relationship to periodic synchronous discharge (PSD) in EEG. The rhythm is, however, somewhat different and quicker in CJD (0.5-2 Hz) than in SSPE (0.05-0.2 Hz). In the acquired immunodeficiency syndrome (AIDS), AIMs, including tremor, myoclonus and some others are also noted.
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PMID:[Dyskinesias in infections of the central nervous system]. 827 70


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