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

The clinical and pathological features of a sporadic case of juvenile neuroaxonal dystrophy beginning at the age of 10 and leading to death at the age of 26 are described. Clinical manifestation began with cerebellar symptoms. The subject subsequently developed dementia, pes cavus (Friedreich's feet), epilepsy, myoclonus, and Parkinsonian syndrome, but demonstrated neither tremor nor choreoathetoid movement. Pathological examination showed typical generalized axonal dystrophy throughout the central nervous system (Seitelberger's disease). Iron-positive pigmentation was seen in the pallidonigral system, diffuse Lewy bodies (brainstem type and cerebral type) were demonstrated in the brainstem nuclei and cerebral cortex, and neurofibrillary tangles were observed.
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PMID:An autopsy case of late infantile and juvenile neuroaxonal dystrophy with diffuse Lewy bodies and neurofibrillary tangles. 137 97

Onset of a neurological disease was coincidental in two members of a family. The mother died at the age of 57 and her daughter at the age of 27 years. Clinically the disease was manifested by cerebellar ataxia, visual disturbances, dystonic movements and intellectual impairment which appeared very later in the course of the disease in the younger patient. Myoclonus was only observed in the mother. The EEG examination revealed non-specific abnormalities. CT scans disclosed severe cerebellar atrophy and reduced size of the pons in the daughter. The duration of the disease was 7 months in the mother and 3 years in her daughter. The neuropathological examination showed degeneration of the thalamus, substantia nigra and inferior olives, together with loss of Purkinje cells and axonal torpedos in the granular layer of the mother. Olivopontocerebellar atrophy, atrophy of the thalamus and substantia nigra, associated to typical spongiform encephalopathy of the cerebral cortex, amygdaloid complex and striatum occurred in the daughter. These observations let us to comment whether multisystemic atrophies may be fortuitously associated to different prion-induced encephalopathies, or may be found in the context of spongiform encephalopathies.
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PMID:[Spongiform encephalopathy and multisystemic degeneration]. 186 55

A 30-year-old patient with cerebrotendinous xanthomatosis was studied over a 6-year period. The clinical manifestations were cataracts, intellectual deterioration, ataxia, palatal and pharyngeal myoclonus, corticospinal tract damage and an electrophysiologically demonstrated sensorimotor peripheral neuropathy. Peripheral motor and sensory nerve conduction velocity was slowed. Sural nerve biopsy revealed reduced densities of both myelinated and unmyelinated axons and teased fibres showed evidence of axonal regeneration and some remyelination. The loss of myelinated nerve fibres particularly affected those of larger diameter, thus contributing to the slowing of nerve conduction. Chenodeoxycholic acid treatment for two separate periods of 10 and 6 months each increased nerve conduction velocity. This electrophysiological improvement was not matched by detectable clinical neurological improvement.
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PMID:Cerebrotendinous xanthomatosis: clinical, electrophysiological and nerve biopsy findings, and response to treatment with chenodeoxycholic acid. 219 42

Vacuolization is a pathognomonic change occurring in Creutzfeldt-Jakob disease (CJD) and in other spongiform encephalopathies. The spongiform status takes place within nerve and glial cells. Its mechanism of formation is unknown. This paper concentrates on a possible sequence of morphological changes that culminate with empty and dilated neurites. A biopsy was taken from the right frontal cortex of a 44-year-old man, who had a brief history of dementia and myoclonus. An EEG showed periodical discharges and the routine histological stains showed changes compatible with CJD, including prominent vacuolization. Some fragments of tissue were impregnated with the rapid-Golgi method, and some others were processed for transmission electron microscopy (TEM). In the Golgi stained material, many of the impregnated neurons showed fewer dendrites and loss of spines, and the dendritic processes appeared smaller in diameter. Frequently the silhouette of nerve-cell bodies was distorted; irregular surfaces and lumpinesses had replaced the otherwise smooth contour of many granule and pyramidal cells. In addition, spherical axonal and dendritic dilations were found. These globular dilations were seen in primary and secondary dendrites, mainly from pyramidal cells. They were not present in all the impregnated cells, showed a stochastic distribution, and appeared to proportionally reach a larger diameter in axons. The light-microscopic changes are correlated with those obtained with the TEM, and a morphological classification of affected neurites is used to postulate a hypothetical centrifugal emptying process, which is proposed as the putative mechanism for the production of these spherules. The possible neurobiological significance of these spherules is discussed.
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PMID:Dendritic and axonal spherules in the neocortex of a patient with Creutzfeldt-Jakob disease (CJD): Golgi and electron-microscopical investigation--neurobiological significance. 242 54

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

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

An epidemic of bismuth (Bi)-related neurotoxicity in France remains poorly understood, partly because no satisfactory animal model exists. We have now characterized such a model. Single or multiple intraperitoneal injections of Bi subnitrate into female mice produced neurologic signs (myoclonus, ataxia, tremors, convulsions) and blood (1.2 micrograms/g) and brain (8.4 micrograms/g) Bi levels like those in human cases. Hydrocephalus and axonal swellings in spinal cord were the major neuropathologic lesions.
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PMID:Characterization of a murine model for human bismuth encephalopathy. 324 42

A 55-year-old man is presented who developed severe multifocal myoclonus and tonic clonic seizures in his early thirties, and progressive limb weakness in his mid forties, when a ragged red fibre myopathy was diagnosed. He went on to develop a distal motor neuropathy and respiratory failure. Respiratory function tests indicated respiratory failure secondary to respiratory muscle weakness and a central hypoventilation syndrome. CT scan revealed brain stem atrophy and brain stem evoked responses were abnormal. A sural nerve biopsy showed severe axonal degeneration. Cytochrome difference spectra and polarographic studies on isolated intact muscle mitochondria were normal. This study reports the association of respiratory failure and sleep apnoea with Fukuhara's syndrome and presents biochemical data suggesting that the mitochondrial respiratory chain may be intact in some patients with this syndrome.
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PMID:Mitochondrial myoneuropathy with respiratory failure and myoclonic epilepsy. A case report with biochemical studies. 393 3

A 50-year-old Japanese woman with action myoclonus, cerebellar signs, neuropathy with axonal degeneration and onion-bulb formation, muscle atrophy with mitochondrial abnormalities, and isolated ACTH deficiency was reported. Her daughter had myoclonus epilepsy and cerebellar ataxia. Neuropathologic findings included atrophy of the dentate and inferior olivary nuclei, Purkinje's cell loss, and demyelination of the posterior columns and spinocerebellar and pyramidal tracts of the spinal cord, besides severe respirator changes. Lafora's bodies were absent. The present case should be included in the entity "myoclonus epilepsy associated with mitochondrial myopathy."
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PMID:Myoclonus, cerebellar disorder, neuropathy, mitochondrial myopathy, and ACTH deficiency. 631 Apr 38

One strategy for deciphering inherited neurological disease is to examine the expression of individual genes controlling the assembly and physiology of specific cell groups within the developing mammalian central nervous system (CNS). This neurogenetic approach, using defined single-locus mutations arising on coisogeneic mouse strains, has recently been used to analyse a major class of neuronal membrane diseases involving abnormal excitability, the epilepsies, and to identify examples of hereditary variation in signalling properties at central synapses. An interesting mutation, the Tottering (tg) gene, causes a delayed onset, recessive neurological disorder in the mouse featuring a stereotyped triad of ataxia, intermittent myoclonus and cortical spike-wave discharges accompanied by behavioural absence seizures which resemble petit mal epilepsy. Axon branches of the locus coeruleus, a noradrenergic brain-stem nucleus, hyperinnervate specific target regions of the tg brain. The number of parent coerulean perikarya is unaffected, indicating a true proliferation of the terminal axonal arbor. With the exception of this unusually precise error of axonal growth, no other cytopathology has been identified in the tg brain. Here I present evidence that selective lesions of the central noradrenergic axons early in development limit the expression of the disease.
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PMID:A single gene error of noradrenergic axon growth synchronizes central neurones. 646 26


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