Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a prospective longitudinal study with death as the end point in 17 middle-aged patients with Down's syndrome, dementia was clinically diagnosed in 15 patients, by means of careful observations in daily circumstances. Autopsies were performed in 10 cases: 8 demented patients and 2 nondemented patients. Neuropathologically, Alzheimer-type abnormalities were demonstrated in 9 patients, both demented and nondemented, and combined Alzheimer-type abnormalities with infarctions were demonstrated in 1 patient. In the 14 demented patients who did not show evidence of cerebrovascular or systemic vascular disease, dementia had an early onset and was rapidly progressive (mean age at onset, 51.3 years in the moderately retarded patients and 52.6 years in the severely retarded patients; mean duration of symptoms, respectively, 4.9 and 5.2 years). Cognitive and behavioral decline corresponded to symptoms of dementia of the Alzheimer's type in patients without Down's syndrome, but often were not recognized early. In the present group of patients, there was a remarkably high incidence of gait and speech deterioration. Also, the incidence of epileptic seizures and myoclonus was about eightfold, as compared with dementia of the Alzheimer's type in patients without Down's syndrome.
 ...
PMID:The natural history of dementia in Down's syndrome. 213 13

A case of juvenile Alzheimer's disease with various neurological features such as myoclonus, also showing grumose degeneration in the dentate nucleus was reported. In a 35 year old woman, at first myoclonus, and 5 years later, progressive dementia were found. She, then, fell into apallic syndrome 9 years later, and died of pneumonia at the age of 53. She had no particular family history. Neurological examination disclosed cerebellar ataxia, left hemiparesis, convulsion in addition to myoclonus. Neuropathologically, there were a lot of senile plaques and neurofibrillary tangles in the cerebral cortex. A marked myelin loss in the white matter and a neuronal loss in the basal ganglia were also found. And grumose degeneration in the cerebellar dentate nucleus distinctively characterize the present case. The myoclonus and cerebellar ataxia could be attributed to the grumose degeneration. Two similar cases had been previously reported. Juvenile Alzheimer's disease with grumose degeneration like the present case was considered to be one of the subgroups of Alzheimer's disease.
 ...
PMID:[A case of juvenile Alzheimer's disease with various neurological features such as myoclonus, showing grumose degeneration in the dentate nucleus]. 222 61

Of 85 consecutive patients with mitochondrial myopathy, 29 had clinically significant central nervous system involvement. Nine of these had movement disorders that included dystonia, chorea, parkinsonism, and myoclonus. Autopsy studies of one patient with ataxia, dementia, and parkinsonism followed by dystonia showed the features of olivopontocerebellar atrophy with additional degenerative changes in the basal ganglia. Postmortem in a further case with myoclonus, deafness, muscle weakness, retinopathy, and ataxia showed symmetrical mineralisation of the striatopallidodentatal system.
 ...
PMID:Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies. 232 72

To determine the role of Alzheimer's disease as a causative factor for late-onset epilepsy, 44 subjects with mild senile dementia of the Alzheimer type and 58 healthy control subjects were examined over a 90-month period for the development of focal or generalized seizure activity (excluding myoclonus). At entry, all subjects were free of prior seizures and other neurologic, medical, and psychiatric disorders with the potential to impair cognition. Although no control subject developed seizures during the study period, 7 subjects with senile dementia of the Alzheimer type had at least one documented seizure. All 7 subjects had progressed to the severe stage of dementia by the time of the first seizure. Seizures were generalized tonic-clonic in type and were unassociated with clinical or (in 3 subjects) neuropathologic evidence for epileptogenic factors other than Alzheimer's disease. We conclude that advanced Alzheimer's disease alone may be an important risk factor for new-onset seizures in older adults.
 ...
PMID:Advanced Alzheimer's disease is a risk factor for late-onset seizures. 237 89

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.
 ...
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

The Lafora type of progressive myoclonus epilepsy is a rare and fatal familial disease characterized by seizures, myoclonus, and dementia. This diagnosis was confirmed in 2 patients by demonstrating the presence of intracytoplasmic polyglucosan bodies, or Lafora bodies, in the peripheral portion of the eccrine sweat gland duct. Exclusive use of the periodic acid-Schiff stain is recommended for demonstrating these diagnostic inclusions. Electron microscopy reveals fine pale-staining filaments, fine dark-staining granules, and dark-rimmed vacuoles within these non-membrane-bound inclusions. Skin biopsy is the preferred method of confirming the diagnosis of Lafora disease.
 ...
PMID:Diagnosis of Lafora disease by skin biopsy. 245 16

Monoamine metabolites, biopterin, acetylcholinesterase (AChE) activity, and somatostatin-like immunoreactivity (SLI) were determined in the lumbar cerebrospinal fluid (CSF) of 24 patients with dementia of the Alzheimer type (DAT) without myoclonus or extrapyramidal signs, in 8 patients with DAT and myoclonus, and in 14 age-matched healthy control subjects. In patients with DAT with myoclonus as compared with both DAT patients without myoclonus and control subjects, the concentrations of homovanillic acid and biopterin were significantly decreased. 5-Hydroxyindoleacetic acid was significantly lower in patients with myoclonic DAT as compared to patients with nonmyoclonic DAT, but not significantly lower than in control subjects. CSF AChE and SLI were significantly reduced in patients with DAT with or without myoclonus, as compared with control subjects, but AChE and SLI were not significantly different between dementia groups. These results suggest that DAT patients with myoclonus represent a distinct clinical and neurochemical DAT subtype.
 ...
PMID:Cerebrospinal fluid neurochemistry in the myoclonic subtype of Alzheimer's disease. 246 3

A 41-year-old female of mitochondrial myopathy characterized by recurrent paralytic ileus and atonic bladder with the evidence of peripheral nerve involvement was described. This patient was admitted to our hospital because of the episode of paralytic ileus and atonic bladder at the age of 40 and 41 (1987). She had noticed sporadic headache from 1967, constipation from 1977, tinnitus and hearing disturbance from 1984. One month after her second admission in 1987, her symptoms of paralytic ileus and atonic bladder gradually disappeared. She was then transferred to the department of neurology for the evaluation of underlining neurological disorders. Neurological examination revealed dementia, oro-lingual dyskinesia, and proximal muscular weakness. However, none of the following signs or symptoms were observed; Ophthalmoplegia, blepharoptosis, retinitis pigmentosa, myoclonus, cerebellar ataxia, sensory disturbance, and orthostatic hypotension. Deep tendon reflexes were normal. Planter responses were flexor. Pyruvate and lactate were elevated in both serum and cerebrospinal fluid. Brain CT scan displayed moderate cerebral atrophy and basal ganglia calcifications. EMG was normal except for the external anal sphincter muscles which showed a denervation pattern. Motor nerve conduction velocity was normal in the right median and the right peroneal nerves. Sensory nerve conduction velocity was also normal in the right median and the right sural nerves. However, the amplitude of sensory potential was low in both these nerves. Atonic type of neurogenic bladder was noted on cystometry. There was a lack of voiding desire. The number of active sweat glands iontophoretically stimulated by pilocarpine was reduced. The most prominent feature of the muscle biopsy (the left biceps brachii) was myopathic changes with ragged-red fibers.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Paralytic ileus and atonic bladder in a case of mitochondrial encephalomyopathy--electrophysiological, chemical and pathological study with evidence of the peripheral nerve involvement]. 255 55

Seventy-one EEGs (0.49%) of 53 patients, out of 14,458 recordings, contained triphasic waves: twenty-nine were patients with metabolic encephalopathies and 24 were demented patients (16 of these had a presumptive diagnosis of Alzheimer's disease and the other eight of mult-infarct dementia). Demented subjects with metabolic disorders are included in the metabolic encephalopathies group. In all of the cases of Alzheimer's disease, triphasic waves were atypical: in 14 they occurred singly or in short bursts, in 10 they had occipital predominance and in 2 they were bilateral but asymmetrical. In 5 cases, triphasic waves were associated with myoclonus and in 2 of them they occurred in long runs with a pseudo-periodic pattern. In these cases the distinction from Creutzfeldt-Jakob disease was based on neuropathologic findings.
 ...
PMID:[Triphasic waves in dementia syndromes]. 261 26

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.
 ...
PMID:Creutzfeldt-Jakob disease presenting as isolated aphasia. 264 13


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>