Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient is described with severe intention myoclonus which was made worse by treatment with L-Dopa and improved by clonazepam. Family history and examination of several siblings suggested the diagnosis of Huntington's disease. Subsequent to improvement of the myoclonus the patient appeared to have the rigid form of Huntington's disease. This case represents a unique expression for an otherwise well defined genetic abnormality. Stimulus activated myoclonus in a common feature of a number of disorders of the nervous system. Intention, or action myoclonus has been the subject of increasing interest because of its association with the syndrome of post-anoxic encephalopathy (1), although it may occur with other disorders as well. Many abnormal movements have been reported in Huntington's disease, but myoclonus is a relatively uncommon feature of this disorder and to our knowledge intention myoclonus has not been reported as a major symptom. We recently have evaluated a patient with disabling intention myoclonus and examined several members of his family who have typical Huntington's disease. We therefore report this case, a unique presentation of an otherwise well described movement disturbance.
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PMID:Intention myoclonus in Huntington's disease. 13 56

Dopamine, norepinephrine, and octopamine levels were estimated in regions of brains obtained postmortem from children who died with Reye syndrome and from age-matched controls. Hypothalamic norepinephrine levels were greatly decreased (to 30 percent of control, p less than 0.02) and octopamine levels were increased (to 700 percent of control, p less than 0.01). Levodopa had little effect on the physiologic condition of the patients. However, CNS dopamine and homovanillic concentrations were not elevated by levodopa, indicating that in the present cases levodopa was not metabolized to its catecholamine products. The findings indicate that the encephalopathy of Reye syndrome (as in other types of hepatic coma) may be linked to the presence of false transmitters in the brain and that levodopa is a rational therapy if administered before irreversible CNS changes occur.
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PMID:Catecholamine and octopamine concentrations in brains of patients with Reye syndrome. 33 8

Body movements (BMs) during sleep in patients with age dependent epileptic encephalopathy (ADEE) were studied polysomnographically in order to clarify the underlying mechanism of intractability and the age dependent trend. Twenty patients were divided into two groups according to the prognosis of convulsions. In the good prognosis group, BMs were nearly normal except for a low frequency in some cases. In the intractable group with seizures which were uncontrollable by medication and recurred within a year, BMs showed abnormalities as follows: abnormal distribution according to sleep stages, and/or a low frequency; increased BMs on therapy with prednisolone or ACTH. Moreover, a paradoxical increase of BMs with age and recurrence of seizures concomitantly occurred in the course of the disease. Status epilepticus appeared in cases under 1-DOPA administration or with a strikingly high frequency of BMs. Since electrophysiological evidence indicates that BMs during sleep are modulated by the dopaminergic (DA) system, the present data might suggest that prognosis of convulsions in ADEE depend upon, at least in part, the DA system. And denervated supersensitivity of that system might give rise to recurrence of seizures and status epilepticus.
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PMID:Polygraphical study on age dependent epileptic encephalopathy--relationship between body movements during sleep and prognosis. 302 90

This report describes a case of metrizamide encephalopathy with persistent disturbance of consciousness and extrapyramidal symptoms. These two conditions have rarely been reported among the various adverse effects of metrizamide. An 11-year-old girl had been in almost good health until she was ten years old, at which time she received a ventriculo-peritoneal shunt operation, suffering from hydrocephalus of unknown etiology. At the age of eleven, she was admitted to our hospital due to hydrocephalus recurrence. She was examined by metrizamide shunt-gram (1200 mg iodide/4 ml). On the next day, she became drowsy. The CT scan disclosed the periventricular penetration of metrizamide into the medial part of the thalamus and the caudate nucleus. Thirteen days later, disturbance of consciousness continued, and extrapyramidal symptoms, that is, rigo-spasticity and postural tremor, were observed. Oral administration of L-threo-DOPS, the direct precursor of noradrenaline, was effective against the persistent disturbance of consciousness and L-DOPA was effective against the extrapyramidal symptoms. She soon recovered almost to normal and no neurological deficit remained. We thus conclude that the CT scan findings and effects of L-threo-DOPS and L-DOPA suggest that metrizamide encephalopathy in this case were respectively due to its periventricular penetration into the medial part of the thalamus and the caudate nucleus, and the resultant deficiency of the ascending noradrenergic reticular activating system and the nigrostriatal dopaminergic system.
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PMID:[Metrizamide encephalopathy in a child with hydrocephalus--effects of L-threo-DOPS on persistent disturbance of consciousness and L-dopa on extrapyramidal symptoms]. 314 37

Elevated plasma concentrations and abnormal secretory patterns of GH have been found in patients with cirrhosis of the liver. Displacement of brain dopaminergic monoamines by false "neurotransmitters' produced in the gut has been postulated as a cause of encephalopathy. In this study basal GH plasma levels and their response to TRH and L-DOPA were determined in thirty-nine cirrhotic patients and fifteen controls. Eleven patients had evidence of encephalopathy (Group 1), twenty-eight did not (Group 2). Both basal levels and the mean peak response to TRH were significantly higher in the cirrhotic patients that in the controls (Group 3). Peak values were moderately, but not significantly, higher in Group 1 than in Group 2. The response to L-DOPA was considerably lower in the encephalopathic patients in comparison with the subjects of both Group 2 and Group 3. This finding is consistent with depletion of active "neurotransmitters' in CNS. Our data fail to demonstrate clearly whether the paradoxical response to TRH can also be related to these abnormalities of monoamine metabolism in cirrhotics.
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PMID:Growth hormone (GH) secretion in hepatic encephalopathy. 679 Feb 2

This paper gives an overview of the clinical importance of SPECT and PET imaging of the dopaminergic system in the differential diagnosis and for the determination of the progression rate of Parkinson's disease (PD). D2 receptor imaging can help to differentiate multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) from PD. In patients treated with neuroleptics it is possible to determine the rate of striatal D2 receptor blockade using this technique. This occupancy rate parallels the occurrence of parkinsonian side effects. Its measurement helps in the selection of newer atypical neuroleptics, which can be used to treat drug-induced psychosis in PD because they do not aggravate parkinsonian symptoms. Imaging of dopaminergic neurons with [123I]beta-CIT SPECT or [18F]DOPA PET is a way to visualize and quantify the nigrostriatal dopaminergic lesion in PD. Findings correlate with clinical rating scales and demonstrate the feasibility of detecting the preclinical lesion in patients with hemiparkinson or familial PD. [123I]beta-CIT SPECT can easily distinguish patients with essential tremor and patients with "lower body parkinsonism" due to a subcortical vascular encephalopathy. MSA and PSP cannot be separated from PD with this method alone. Longitudinal studies with [123I]beta-CIT SPECT and [18F]DOPA PET can quantify the progression rate in PD. SPECT results from our own group show a low rate of progression in patients with a long duration of disease and a more marked progression rate in patients with shorter disease duration. In the former group regions in the striatum with higher beta-CIT binding at the time of the first SPECT scan decline faster than regions with lower binding. These findings suggest a curvilinear course of progression which starts at different time points in different striatal regions and which levels off after several years of disease duration. These findings are in line with data from PET studies and underline the importance of an early start of neuroprotective strategies. Preliminary data from PET and SPECT studies in early PD suggest that dopamine agonists might have a slight neuroprotective effect and might slow down the rate of progression of the disease.
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PMID:SPECT and PET imaging of the dopaminergic system in Parkinson's disease. 1119 11

Of 242 patients with carbon monoxide (CO) poisoning examined between 1986 and 1996, parkinsonism was diagnosed in 23 (9.5%). There were 11 men and 12 women. The age at onset ranged from 16 to 69 (mean 45.8) years, with the peak incidence during the 6th decade. The latency before the appearance of parkinsonism varied from 2 to 26 (median 4) weeks, but parkinsonism developed within 1 month after an acute insult in the majority of the patients. All showed encephalopathy with mildly to severely impaired cognitive functions during or immediately after delayed CO sequelae. The common symptoms were gait disturbance, impaired mentality, urinary incontinence, and mutism. The most frequent signs were short-step gait, hypokinesia, masked face, increased muscle tone (rigidity), glabella sign, grasp reflex, and retropulsion. Intentional tremor was occasionally found, but resting tremor could not be seen. There was no correlation between the neuroimaging findings and the development of parkinsonism. Levodopa and anticholinergic drugs were not effective. Of 16 patients followed up for 1 year, 13 (81.3%) recovered spontaneously within 6 months. In conclusion, parkinsonism after CO poisoning is not rare and usually appears as a part of delayed CO encephalopathy. Any drug is not effective, but the prognosis is good.
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PMID:Parkinsonism after carbon monoxide poisoning. 1213 7

Dyskinesias and seizures are both medically refractory disorders for which cannabinoid-based treatments have shown early promise as primary or adjunctive therapy. Using the Borna disease (BD) virus rat, an animal model of viral encephalopathy with spontaneous hyperkinetic movements and seizure susceptibility, we identified a key role for endocannabinoids in the maintenance of a balanced tone of activity in extrapyramidal and limbic circuits. BD rats showed significant elevations of the endocannabinoid anandamide in subthalamic nucleus, a relay nucleus compromised in hyperkinetic disorders. While direct and indirect cannabinoid agonists had limited motor effects in BD rats, abrupt reductions of endocannabinoid tone by the CB1 antagonist SR141716A (0.3 mg/kg, i.p.) caused seizures characterized by myoclonic jerks time-locked to periodic spike/sharp wave discharges on hippocampal electroencephalography. The general opiate antagonist naloxone (NLX) (1 mg/kg, s.c.), another pharmacologic treatment with potential efficacy in dyskinesias or L-DOPA motor complications, produced similar seizures. No changes in anandamide levels in hippocampus and amygdala were found in convulsing NLX-treated BD rats. In contrast, NLX significantly increased anandamide levels in the same areas of normal uninfected animals, possibly protecting against seizures. Pretreatment with the anandamide transport blocker AM404 (20 mg/kg, i.p.) prevented NLX-induced seizures. These findings are consistent with an anticonvulsant role for endocannabinoids, counteracting aberrant firing produced by convulsive agents, and with a functional or reciprocal relation between opioid and cannabinoid tone with respect to limbic convulsive phenomena.
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PMID:A role for endocannabinoids in viral-induced dyskinetic and convulsive phenomena. 1602 63

Tyrosine 3-monooxygenase (tyrosine hydroxylase, TH) catalyzes the initial and rate-limiting step in the catecholamine biosynthesis. Alteration in TH activity is involved in the pathogenesis of certain disorders derived from catecholaminergic dysfunction. In the present review, we focus on recent advances in molecular genetic study of TH function and inherited diseases. Knockout mice lacking TH gene show severe catecholamine depletion and perinatal lethality. Mice heterozygous for the TH mutation exhibit defects in some neuropsychological functions. Dopamine-deficient mice impair motor control and operant learning during postnatal development. In addition, some point mutations in the human TH gene underlie the inherited diseases, including the recessive form of L-DOPA-responsive dystonia, parkinsonism in infancy, or progressive encephalopathy. These mutations indeed appear to reduce TH activity or influence expression of TH protein. Advances in molecular genetic studies provide a deeper understanding of the relationship between the alteration in TH activity and the pathology of catecholaminergic systems.
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PMID:Molecular genetics of tyrosine 3-monooxygenase and inherited diseases. 1610 53

Neurotransmitters are essential in young children for differentiation and neuronal growth of the developing nervous system. We aimed to identify possible factors related to secondary neurotransmitter abnormalities in pediatric patients with neurological disorders. We analyzed cerebrospinal fluid (CSF) and biogenic amine metabolites in 56 infants (33 males, 23 females; mean age 5.8mo [SD 4.1mo] range 1d-1y) with neurological disorders whose aetiology was initially unknown. Patients were classified into three clinical phenotypes: epileptic encephalopathy, severe motor impairment, and non-specific manifestations. All patients showed normal results for screening of inborn errors of metabolism. We report clinical, neuroimaging, and follow-up data. Among the patients studied, 10 had low homovanillic acid (HVA) levels and in four patients, 5-hydroxyindoleacetic acid (5-HIAA) was also reduced. Patients with neonatal onset had significantly lower levels of HVA than a comparison group. HVA deficiency was also associated with severe motor impairment and the final diagnosis related to neurodegenerative disorders. 5-HIAA values tended to be decreased in patients with brain cortical atrophy. The possibility of treating patients with L-Dopa and 5-hydroxytryptophan, in order to improve their neurological function and maturation, may be considered.
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PMID:Secondary abnormalities of neurotransmitters in infants with neurological disorders. 1788 Jun 42


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