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)

A syndrome of rigidity, bradykinesia, spasticity, and often myoclonus and dementia developed acutely in 5 patients who had undergone successful engraftment of bone marrow transplants for the treatment of various hematologic diseases. Magnetic resonance imaging demonstrated widespread changes in white matter; brain biopsy disclosed mild demyelination associated with active phagocytosis of myelin. One patient, who was not treated, remains severely demented. Patients treated with very high-dose methylprednisolone had complete clinical recovery.
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PMID:Acute parkinsonian syndrome with demyelinating leukoencephalopathy in bone marrow transplant recipients. 179 10

This review concentrated on the more recent findings of investigations into the functional anatomy and pathophysiology of movement disorders. Attempts were made to provide explanations for rigidity, bradykinesia, and tremor. What little is known of the pathophysiology of chorea, tics, and dystonia is discussed. Greater information is available to allow pathophysiologic classification of different types of myoclonus.
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PMID:The pathophysiology of movement disorders. 624 55

In eight monkeys (Cercopithecus aethiops), previously treated with haloperidol for 4-14 months, we have examined the behavioral effect of: (1) methylphenidate vs apomorphine; (2) 4,5,6,7-tetrahydroisoxazolo-(5,4-c)-pyridin-3-ol(THIP, a GABA agonist) vs diazepam; and (3) THIP and diazepam in methylphenidate-induced behavior. Methylphenidate (0.5-5.0 mg/kg) and apomorphine (0.1-0.5 mg/kg) both increased locomotion, but otherwise exhibited different behavioral profiles. Methylphenidate induced repetitive movements of head, limbs, and trunk, and hallucinatory-like behavior, but not oral hyperkinesia (licking and gnawing), whereas apomorphine preferentially caused oral hyperkinesia. THIP produced a syndrome of bradykinesia, dystonia, ataxia, myoclonus, sedation, and decreased responsiveness, whereas diazepam produced only bradykinesia, ataxia, sedation, and decreased responsiveness, but not dystonia and myoclonus. Methylphenidate-induced locomotion and repetitive movements were reduced by THIP and diazepam, whereas hallucinatory-like behavior was markedly aggravated by THIP, but not by diazepam.
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PMID:Methylphenidate, apomorphine, THIP, and diazepam in monkeys: dopamine-GABA behavior related to psychoses and tardive dyskinesia. 642 Aug 23

Striatonigral degeneration (SND) is difficult to diagnose in vivo. The purpose of this study was to detect the best indicators for an early and reliable diagnosis of the disease. Eighteen patients clinically diagnosed as having SND were selected with rigorous inclusion criteria and compared to 18 patients with Parkinson's disease (PD) matched for age and disease duration. Apart from dysautonomia, the principal discriminant clinical features that distinguished SND from PD were the early appearance of the following symptoms and signs: (a) severe and atypical progressive parkinsonism characterized by bilateral bradykinesia and rigidity, slowness of gait, postural instability, and falls, and poor or absent response to adequate levodopa treatment; (b) increased tendon reflexes associated or not with frank pyramidal signs, severe dysarthria, and less consistently, dysphagia, stridor, antecollis, and stimulus-sensitive myoclonus, which, when present, are highly suggestive of the disease.
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PMID:"Pure" striatonigral degeneration and Parkinson's disease: a comparative clinical study. 765 45

We report a 61-year-old male with rapidly progressive dementia and gait disturbance. He was well until spring 1990 as a postmaster, when there was an onset of memory disturbance and mistakes in his job. In May 1990, his wife noted slurring of his speech. In August, there was an onset of gait disturbance. He fell down frequently. In October, he was seen by a neurologist, who found moderate dementia, small step gait, retropulsion, freezing, paratonic rigidity, bradykinesia and a restriction in the vertical gaze on him. His dementia and gait disturbance progressed rapidly and in May 1991, he developed fever and dyspnea and was admitted to Juntendo University Urayasu Hospital. On admission, he was chronically ill and wheezing rale was heard on both lung fields. Neurologically, he was awake but without response to the simplest examiner's command. Cranial nerves appeared intact except for a restriction in the upward gaze. His posture was opisthotonic with a decorticated posture. Marked rigidity was present in all four limbs. He could not sit or stand. Deep reflexes were diminished symmetrically. He was treated by supportive cares, however, he expired 12 days after his admission. In no time myoclonus was observed, nor PSD recorded in his EEG. Cranial CT scans revealed moderate cortical atrophy. The patient was discussed in a neurological CPC, and the chief discussant arrived at the conclusion that he had Creutzfeld-Jakob disease despite the absence of myoclonus and PSD. Postmortem examination revealed diffuse spongy state of the cerebral hemisphere as well as striatum.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A 61-year-old man with rapidly progressing dementia and gait disturbance]. 839 90

OBJECTIVE--To analyse the natural history of progressive supranuclear palsy (PSP or Steele-Richardson-Olszewski syndrome) and clinical predictors of survival in 24 patients with PSP confirmed by necropsy, who fulfilled the NINDS criteria for a neuropathological diagnosis of typical PSP. METHODS--Patients were selected from the research and clinical files of seven medical centres involving tertiary centres of Austria, England, France, and the United States. Clinical features were analysed in detail. The patients' mean age at onset of PSP was 63 (range 45-73) years. RESULTS--The most frequent clinical features (occurring in at least 75% of the patients) were early postural instability and falls, vertical supranuclear palsy, akinetic-rigid predominant parkinsonian disorder characterised by symmetric bradykinesia and axial rigidity unrelieved by levodopa, pseudobulbar palsy, and frontal release signs. Occasionally, segmental dystonia or myoclonus were described, but neither aphasia nor alien limb syndrome was reported. Fractures occurred in 25% of the patients but were unrelated to the severity of the gait or to the presence of falls. Median survival time was 5.6 (range 2-16.6) years. Onset of falls during the first year, early dysphagia, and incontinence predicted a shorter survival time. Age at onset, sex, early onset of dementia, vertical supranuclear palsy, or axial rigidity had no effect on prognosis of survival. Pneumonia was the most common immediate cause of death. PSP was most often clinically misdiagnosed as Parkinson's disease. Errors in diagnosis suggest that PSP is underdiagnosed. CONCLUSION--Progressive onset of early postural instability with falls or supranuclear vertical palsy in the fifth decade, should suggest the diagnosis of PSP. Onset of falls during the first year are emphasised, as they could lead to an early diagnosis and influence the prognosis of patients with PSP. Whether appropriate treatment of the dysphagia could prolong the survival of PSP patients needs to be explored.
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PMID:Natural history of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) and clinical predictors of survival: a clinicopathological study. 864 26

Subacute sclerosing panencephalitis (SSPE) is mainly thought of as a disorder of childhood and adolescence and may not be readily recognized when presenting later in life. Prior reports have suggested that adult-onset SSPE may have atypical features. We have added two cases to the existing literature on adult-onset SSPE, compared them with a more classic juvenile presentation, and extensively reviewed those reports that were published after the etiological link with the measles virus had been established. Adult-onset SSPE patients present at a mean age of 25.4 years (range 20-35 years). They have a higher proportion of either negative history of measles exposure or undocumented history by the reporting authors. Those with available history of measles exposure tend to have it either earlier (younger than 3 years old) or later (after 9 years) than the usual childhood measles infection. Where the primary infection is known, unusually long measles-to-SSPE intervals have been documented, ranging from 14 to 22 years. None of the cases followed measles vaccination. Visual symptomatology was very frequent, with 8 of the 13 cases reviewed having a purely ophthalmological presentation; only 2 patients presented with behavioral changes. Although the course of the disease was progressive and fatal in the majority, there appeared to be a higher rate of spontaneous remission as compared with childhood-onset SSPE. Myoclonus, spastic hemiparesis, bradykinesia, and rigidity were the predominant motor manifestations. Neuropathology revealed cortical and subcortical gray matter involvement preferentially of the occipital lobes, thalamus, and putamen. The importance of recognizing the spectrum of potential presentations of SSPE and providing an early diagnosis will increase as more effective treatments become available.
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PMID:Adult-onset subacute sclerosing panencephalitis: case reports and review of the literature. 915 29

A 66-year-old man with clinically diagnosed corticobasal degeneration was studied electrophysiologically. The patient had bilateral forced grasping, rigidity, bradykinesia and hyperreflexia which were predominant on the right side, motor aphasia, constructional apraxia, forced laughing, dysequilibrium and myoclonus of the right upper extremity. Several anti-parkinsonism drugs were ineffective. Brain MRI revealed cortical atrophy of the fronto-temporo-parietal lobes with left predominance. On single photon emission computed tomography, cerebral blood perfusion was decreased, especially on the left side in the fronto-temporal lobes, basal ganglia and thalamus. Myoclonus was distal dominant, worse on action or posture, and was rhythmic, mimicking a tremor. On surface EMG recording of the myoclonus, agonist and antagonist muscle pairs were activated simultaneously and rhythmic activities with frequencies ranging from 7 to 8 Hz were seen. The patient had an enhanced C reflex with a relatively short latency (41.0 ms) after median nerve stimulation only at the right wrist. Additionally, during voluntary contraction, the time-constant EMG silence lasting for about 80-90 ms followed the C reflexes. On somatosensory evoked potentials (SEPs) to the median nerve stimulation, N20 latencies were normal and P25 and N33 amplitudes were not giant. There was no premovement corticat spike when a jerk-locked averaging method was used. Regarding motor evoked potentials (MEPs) elicited by magnetic brain stimulation, central motor conduction times were normal. The estimated cortical delay between the arrival of a somatosensory volley and the motor cortical discharge responsible for C reflex was 1.0 ms, which was shorter than those (3.1 +/- 0.9 ms) estimated in five patients with typical cortical reflex myoclonus. A conditioning stimulation (C) of the right median nerve produced marked facilitation of MEPs following magnetic stimulation of the left motor cortex, at conditioning-test intervals (C-T intervals) of 20-22 ms, whereas a conditioning stimulation of the left median nerve did not produce the same effect. These C-T intervals were thought to be very short, considering that N20 latency was 19.6 ms in this patient. The duration of the EMG silence following the C reflex corresponded to that of the EMG silence between muscle activities during his rhythmic myoclonus, and also the myoclonus was reset by occurrence of the C reflex. These electrophysiological findings indicate that his myoclonus was based upon the enhancement of direct sensory input from the thalamus to the motor cortex. Moreover, it is suggested that the existence of the time-constant EMG silence following the C reflex was related to the myoclonal rhythm.
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PMID:[Electrophysiological study of a case of clinically diagnosed corticobasal degeneration with rhythmic myoclonus]. 950 71

We studied the clinical features, laboratory investigation, management and natural history of a cohort of patients with Juvenile Parkinsonism (JP), seen at a tertiary referral centre. JP was defined as Parkinsonism with onset at age 20 years or less. Six patients (five male, one female) entered the study. The mean age at onset of Parkinsonism was 12.5 years (range 7-19) and the mean follow-up time was 49.3 months (range 40-57). Bradykinesia, rigidity, and postural instability were observed in all patients and five subjects had tremor. Dystonia was present in four subjects. Other clinical features were dementia (five subjects), supranuclear ophthalmoparesis (five subjects), seizures (three subjects), multifocal myoclonus (one subject), decreased deep reflexes (one subject), pyramidal signs (one subject). Family history of Parkinson's disease (PD) was positive in one subject. Work-up for Wilson's disease was negative in all patients. Neuroimaging studies showed cortical atrophy in two subjects and mild brainstem atrophy in two others. Sea-blue histiocytes were found in one subject. L-dopa improved the Parkinsonism in all subjects but four rapidly developed fluctuations and dyskinesias, requiring, in one, stereotaxic surgery. After a mean disease duration of 6.5 years, five subjects require assistance for performance of all daily activities. JP is a heterogeneous clinical entity. In the majority of patients, no underlying cause is identified. The unusual clinical features suggest most subjects have a CNS degenerative disease distinct from PD. There is, however, evidence suggesting that PD may rarely cause JP. Gangliosidosis is another cause of L-dopa-responsive JP. Regardless of the cause, in the present study JP displays an aggressive and rapidly progressive course in most patients.
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PMID:Juvenile parkinsonism: a heterogeneous entity. 1105 29

We describe an Australian family of Greek origin with a parkinsonian syndrome and an Ala53Thr alpha-synuclein gene mutation. Five of 9 siblings were affected, the average age of onset was 45 years, and the initial symptoms were variable, including resting tremor, bradykinesia, and gait disturbance, as previously described in families with the same point mutation. Affected family members responded well to levodopa, developed progressive cognitive impairment, and had a disease duration of 5 to 16 years. Pathologic features typical of idiopathic Parkinson's disease were found at autopsy. However, there were several additional features not previously reported in families with this gene mutation. These features included severe central hypoventilation, orthostatic hypotension, prominent myoclonus, and urinary incontinence. An abundance of alpha-synuclein-immunoreactive Lewy neurites were found in the brainstem pigmented nuclei, hippocampus, and temporal neocortex. The Lewy neurites were associated with temporal lobe vacuolation. Subcortical basal ganglia cell loss and gliosis were seen. These additional clinical and pathological features suggest that the Ala53Thr alpha-synuclein mutation can produce a more widespread disorder than found in typical idiopathic Parkinson's disease.
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PMID:Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation. 1126 5


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