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)

Progressive aphasia without dementia (primary progressive aphasia) is increasingly recognized as an important neurobehavioral syndrome. Clinical diagnosis of progressive aphasia is difficult early in its course, and the differential diagnosis is usually said to include Alzheimer's and Pick's diseases. We report a 61-year-old man with autopsy-proven Creutzfeldt-Jakob disease (CJD) whose major initial manifestation was a progressive, fluent aphasia. Myoclonus was absent, and characteristic EEG abnormalities appeared relatively late. We believe that this case of CJD is unique in its presentation of profound and isolated aphasia. CJD should be considered in the differential diagnosis of the progressive aphasia syndrome.
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PMID:Creutzfeldt-Jakob disease presenting as isolated aphasia. 264 13

Seventy five patients affected by senile dementia of the Alzheimer type (mean age 82) have been submitted to a standardized neurological examination of 88 items. Gait abnormalities were present in 57% of the cases. Extrapyramidal symptoms (akinesia or rigidity or tremor) were noticed in 64% of the cases but they were rarely associated with a typical parkinsonian syndrome. Myoclonus was observed in only 4 patients. The gait abnormalities were significantly associated with the presence of rigidity and grasp reflex but not with other primitive reflexes. The only symptoms to be correlated with dementia severity as assessed by the Mini Mental State were rigidity and optokinetic nystagmus abolition. Tremor and amyotrophy of the hands appeared to be negatively correlated to dementia severity.
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PMID:[Standardized neurologic study in senile dementia of Alzheimer's type]. 268 Apr 61

A 44-year-old man suffered from repeated impairment of consciousness associated with flapping tremor, myoclonus and generalized convulsions, and died in coma 6 months after admission. He had had a psychosomatically underdeveloped childhood, with a propensity for legumes without a family history of the same or a record of consanguinity. On admission, he had disturbed consciousness and emaciation without other physical abnormalities. The EEG revealed diffuse slow waves with occasional appearance of triphasic waves. A high level of serum citrulline (534.7 nmol/ml) was recognized and the assay of urea cycle enzymes in the liver demonstrated decreased argininosuccinate synthetase (ASS) activity (0.062 U/g liver, 7.4% of that in normal liver), although no kinetic abnormality was found. Accordingly he was diagnosed as having type II citrullinemia. In addition, this case could be classified as cluster type of localization of the ASS in the liver by immunohistochemical study. There were characteristic findings concerning his clinical picture and laboratory data, such as a significant correlation between the grade of disturbed consciousness and arterial blood gas pH (r = 0.61, p less than 0.01). However, the blood ammonia level did not always correlate with the severity of disturbed consciousness. Oral treatment with sodium citrate and sodium benzoate was very effective, though transiently, for disturbed consciousness in this case. Pathological findings of the autopsied liver were fatty change and fibrosis. Neuropathologically, characteristic findings were brain edema with cerebellar tonsilar herniation, laminar necrosis with spongy formation in cerebral cortex, and Alzheimer type II glia. The relationship between citrullinemia and other hepatic encephalopathy was also discussed.
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PMID:[An autopsied case of type II citrullinemia--transient effectiveness with either citrate or benzoate to the consciousness disturbance]. 269 30

A case of familial juvenile Alzheimer's disease with apallic state at the relatively early stage and various neurological features was reported. A 33-year-old woman showed a progressive dementia followed by apallic state at the relatively early stage, and died of cardiac failure at the age of 45. Neurological examination disclosed chorea, myoclonus, rigidity, pyramidal sign, and generalized convulsion. Neuropathologically, extensive senile changes such as senile plaques, neurofibrillary tangles, and granurovascular degenerations were observed in the brain, chiefly in the cerebral cortex and limbic system. The present case was characterized by a severe neuronal loss in the subcortical gray matter such as the caudate nucleus, dentate nucleus, substantia nigra, and thalamus as well as a marked myelin loss and axonal damages in the cerebral white matter. This case suggested a combination of multisystemic degeneration and a primary degeneration of the cerebral white matter. The additional peculiar aspects in this case were the senile plaques and amyloid angiopathy in the cerebellar cortex, and the senile plaques and grumose degeneration in the cerebellar dentate nucleus. In the clinicopathological standpoint, the apallic state in this case could be attributed to a severe degeneration of the cerebral white matter in addition to the cerebral cortical deterioration. Furthermore, the occurrence of chorea and myclonus might be contributed to the severe degeneration of the caudate nucleus and to the degeneration of the dentate nucleus, particularly to the grumose degeneration, respectively.
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PMID:[A case of familial juvenile Alzheimer's disease with apallic state at the relatively early stage and various neurological features--a clinicopathological study]. 279 15

A case of an unknown type of familial presenile dementia is reported. The patient was a 56-year-old female, whose main clinical symptom was a gradually progressive dementia over 16 years. She had no myoclonus or periodic synchronous discharge in the EEG. The CT scans revealed marked cerebral atrophy with prominent atrophy of the cerebral white matter. One of her sisters is thought to suffer from the same disease, and is now in an apallic state. The patient was clinically diagnosed as having familial Alzheimer's disease. The neuropathological features consisted of severe cerebral cortical degeneration with conspicuous proliferation of gemistocytic astrocytes as well as severe cerebral white matter degeneration. These cerebral lesions are most similar to those of the panencephalopathic type of Creutzfeldt-Jakob's disease (CJD). However, our case differs from it in that the cerebellar degeneration was very mild. Transmission experiments of frozen tissue from the patient into animals are being tried. The neurochemical data suggested cholinergic deficits. As far as we know, such a case has never been reported in the literature.
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PMID:Familial presenile dementia with CJD-like lesions: preliminary results. 286 22

An autopsy case of familial juvenile Alzheimer's disease with extensive involvement of the subcortical gray and white matters is reported. A 33-year-old woman showed a progressive dementia and died of cardiac failure at the age of 45. Neurological examination disclosed choreatic movements, myoclonus, rigidity, and generalized convulsion. Gross inspection of the brain showed a diffuse cerebral atrophy and marked degenerations of both the subcortical gray and white matters. Microscopically, numerous and extensive argyrophilic changes such as senile plaques, neurofibrillary tangles, and granulovacuolar degenerations were observed in the brain. The present case was characterized by a severe neuronal loss in the basal ganglia, substantia nigra, dentate nucleus, and thalamus as well as a marked myelin loss and axonal damage in the cerebral white matter. This case suggested a combination of multisystemic degeneration and primary degeneration of the cerebral white matter. The pathological similarity of this case to Creutzfeldt-Jakob disease and Pick's disease is discussed.
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PMID:An autopsy case of familial juvenile Alzheimer's disease with extensive involvement of the subcortical gray and white matters. 292 95

The clinical and biological features of Alzheimer disease are not uniform in their expression; heterogeneity is evident in the disease's clinical, anatomic, and physiologic characteristics. The presence of considerable intersubject and intrasubject heterogeneity suggests that subtypes of the disease exist. We define subtypes of Alzheimer disease in regard to the behavioral features (for example, predominant right or left hemisphere, or symmetrical impairment), inheritance (familial or sporadic), dosage of chromosome 21 (presence of the Down syndrome), time course of progression, age of onset (presenile or senile), and presence or absence of motor deficit (myoclonus or signs of an extrapyramidal syndrome). Studies of regional cerebral glucose metabolism with positron emission tomography and [18-fluorine] fluorodeoxyglucose show focal alterations in glucose use, with cerebral metabolic asymmetries in patients with Alzheimer disease that are related to the nature of the cognitive deficit. Serial roentgenographic computed tomographic studies show heterogeneous rates of lateral ventricle enlargement in the disease that are related to rates of cognitive decline. Similar anatomic and physiologic abnormalities are also found in persons 45 years of age or older who have the Down syndrome. Furthermore, patients with Alzheimer disease who have extrapyramidal dysfunction or myoclonus are a distinct subgroup, with specific abnormalities of central monoamine markers of dopamine metabolism, serotonin metabolism, and the hydroxylation cofactor, biopterin. The concept of subtypes in Alzheimer disease serves as a model with which the interactions of genetic influences with environmental factors can be examined.
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PMID:NIH conference. Alzheimer disease: clinical and biological heterogeneity. 296 3

We reviewed 81 patients with dementia and autopsy findings of Alzheimer's disease (AD) to identify patients with seizures or myoclonus after onset of dementia. Eight (10%) had seizures, and eight others (10%) had myoclonus. The incidence of seizures was 10 times more than expected in a reference population. Seizures occurred in any stage of AD, but myoclonus was often a late manifestation. Both seizures and myoclonus, individually or together, are manifestations of AD and may be seen at any time in the course of the illness.
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PMID:Seizures and myoclonus in patients with Alzheimer's disease. 309 31

"Spongy change," or vacuolar change, was observed in the neocortex of temporal and frontal lobes in four of 27 patients with clinical and pathologic characteristics of Alzheimer's disease. All four cases had the autosomal dominant form of the disease, and aside from severe dementia, all developed myoclonus and became mute before death. The degeneration observed was unlike that seen in Creutzfeldt-Jakob disease because it lacked astrocytosis and had a different distribution of lesions. Moreover, the abundance of neurofibrillary changes and senile plaques was consistent with Alzheimer's disease. None of the other 23 cases were familial, and none developed myoclonus or mutism; three of them had minor vacuolation limited to the temporal lobe. The four cases with severe spongy change described are the first, to our knowledge, in which vacuolar or spongy change has been associated with the familial form of Alzheimer's disease.
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PMID:Familial Alzheimer's disease with myoclonus and 'spongy change'. 317 30

Dementia and extrapyramidal signs combine in both Alzheimer's disease (AD) and Parkinson's disease (PD) to produce various degrees of clinical overlap between the two diseases. Rest tremor, positive motor response to dopaminergic drugs, bradyphrenia and disproportionate deficits in visuospatial function, dating capacity, recency discrimination, sequencing and set-shifting are specific features of PD; myoclonus, orofacial dyskinesia, aphasia and rapidly progressive global dementia favours AD. A clearer analysis of the underlying brain-behaviour relationships is necessary to advance our understanding of the origin of cognitive and motor impairment and its treatment.
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PMID:Clinical similarities and differences between Alzheimer's disease and Parkinson's disease. 331 3


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