Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The records of 37 patients with systemic lupus erythematosus (SLE) followed at The Children's Hospital of Philadelphia between 1968 and 1978 were reviewed for evidence of central nervous system (CNS) involvement. Criteria for CNS involvement included evidence of organic brain syndrome, electroencephalographic abnormalities with symptoms referable to CNS, or objective neurologic signs. Sixteen of 37 children had CNS involvement (43%). Thirteen patients had CNS involvement at the onset of SLE. Three patients had late onset CNS manifestations 1 to 2 years after the diagnosis of SLE. The most frequently observed symptoms were headache, behavior disorder, lethargy, diplopia, blurred vision, memory alteration, dizziness, and alteration of consciousness. The most frequently observed neurologic signs were seizures, cranial nerve palsy, ataxia, papilledema, nystagmus, meningitis, tremor, rigidity, cortical blindness, and coma. Neuropsychiatric manifestations included organic brain syndrome, functional psychosis, and personality disorder. Laboratory tests showed elevated cerebrospinal fluid opening pressure and protein, negative cultures, and abnormal electroencephalograms and computerized axial tomography scans. Fourteen of 16 children with CNS manifestations are alive. Thirteen had a mean IQ of 89 by the Wechsler Intelligence Tests. Twelve are in educational programs. One required long-term psychiatric care. A residual neurologic abnormality, a seizure disorder, was present in 3. CNS involvement with SLE in children carries a favorable prognosis.
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PMID:Central nervous system involvement in childhood systemic lupus erythematosus. 731 16

The authors report the results of treatment of hereditary extrapyramidal diseases with new preparations acting upon neurotransmitter systems. Patients with torsion dystonia, Huntington's chorea, Parkinson's disease, hereditary tremor, myoclonic epilepsy were followed-up for several years.. The best results in akinetic-rigidity syndromes (Parkinson's disease, rigid froms of torsion dystonia, Hallevorden-Spatz disease) were obtained with L-DOPA (including Sinemet, Nacom, Madopar) and in many patients these preparations were given in combination with other drugs (cholinolytic agents, Midantan) which contributed to compensation of the disturbed equilibrium of neurotransmitter systems and reduction of side effects. For decreasing the side effects of L-DOPA (hyperkineses of dystonic type, chorea and myoclonia) preparations from the group of phenothiazine and diazepine were given. In many cases improvement was achieved by slover increase of L-DOPA doses. In the hyperkinetic syndromes (Huntington's chorea, idiopathic tremor, myoclonic epilepsy, hyperkinetic torsion dystonia) preparations of phenothiazine, butyrophenone and new drugs active on the GABAergic system (Baclophen, Lyoresal, Pantogam) and diazepine (Clonazepam) were used. The analysis of the results shows that disturbed equilibrium of central neurotransmitters plays and important role in the pathogenesis of hereditary extrapyramidal system diseases.
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PMID:[Pathogenetic treatment of various hereditary extrapyramidal disorders with new drugs]. 732 7

Valproic acid is a branched-chained fatty acid, structurally unrelated to any other antiepileptic drug. Since publication of the original review in the Journal in 1977, several clinical trials have documented its efficacy and safety in adults and children for the treatment of generalised seizures (absence, tonic-clonic, myoclonic), partial seizures (simple, complex, secondarily generalised) and compound/combination seizures (including those refractory to treatment with other antiepileptic drugs). Valproic acid monotherapy has demonstrated efficacy equivalent to that of carbamazepine, phenytoin, and phenobarbital in the treatment of both generalised and partial seizures and ethosuximide in the treatment of absence seizures. Adverse effects associated with the drug are primarily gastrointestinal (nausea, vomiting, dyspepsia) in nature, although the use of enteric-coated formulations has reduced the incidence of abdominal discomfort. Weight gain, tremor and transient hair loss are commonly reported. Importantly, valproic acid has minimal neurological adverse effects (sedation, ataxia, impairment of cognitive function) compared with other antiepileptic drugs, a finding that may be of particular relevance in many patients with epilepsy. The incidence of rare, fatal liver failure has been greatly reduced by identifying and avoiding administration of valproic acid to high risk patient populations. An estimated risk of 1 to 2% for neural tube defects, predominantly spina bifida aperta, with maternal use of valproic acid therapy has been reported. Valproic acid inhibits hepatic drug metabolism and displaces other highly bound drugs from their plasma protein binding sites. Therefore, coadministered drugs which are highly protein bound or hepatically metabolised may require dosage adjustment. Enzyme-inducing antiepileptic drugs may increase valproic acid metabolism and necessitate increasing its dosage. Thus, comparative trials and extensive clinical experience have demonstrated the efficacy and tolerability of valproic acid and support its role as a valuable and well established first-line treatment for patients with a broad range of seizure types.
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PMID:Valproic acid. A reappraisal of its pharmacological properties and clinical efficacy in epilepsy. 751 5

Genetic studies have suggested homogeneity between the Baltic-type and Mediterranean-type progressive myoclonic epilepsy. Magnetoencephalography was applied to elucidate the mechanism underlying the giant evoked responses in cortical reflex myoclonus. A new concept of negative myoclonus mediated by cortical reflex mechanism was proposed. Cortical myoclonus was demonstrated in various neurodegenerative or metabolic disorders, such as presenile or senile dementia, olivopontocerebellar atrophy, and myoclonus epilepsy associated with ragged-red fibres. Myoclonus in corticobasal degeneration is especially noteworthy because it has clinical and electrophysiological features of cortical reflex myoclonus, but its latency is shorter compared with the conventional cortical reflex myoclonus. Clinical features of 'palatal myoclonus' were reported by the name of 'palatal tremor'.
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PMID:Myoclonus. 758 53

The authors describe 7 new cases of Angelman syndrome (AS: 3 males and 4 females) diagnosed on the basis of clinical features (dysmorphic facial features, severe mental retardation with absent speech, peculiar jerky movements, ataxic gait and paroxysms of inappropriate laughter) and neurophysiological findings. Failure to detect deletion of the long arm of chromosome 15 or the absence of epileptic seizure were not considered sufficient to exclude a diagnosis of AS. Feeding problems, developmental delay and early signs of ataxia, especially tremor on handling objects and unstable posture when seated, proved effective as clinical markers for early diagnosis of AS. The EEG patterns characteristic of AS were found within the first 2 years of life (under 18 months in the majority of cases). The authors conclude that AS should be included in differential diagnosis in a child aged under 12 months having cryptogenic psychomotor retardation with prevalent language compromise. Repeat EEG recordings are needed to check for the typical trace, and cytogenetic investigations are mandatory.
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PMID:Electroclinical diagnosis of Angelman syndrome: a study of 7 cases. 776 67

The results of laboratory investigations in concerning 15 patients suspected of mitochondrial disease (MD) are presented. Our purpose is to provide an outline of the investigative modalities that support the clinical suspicion and have been found to be useful in the diagnosis. Five clinical groups were studied including 5 exercise intolerances (2 with inflammatory myopathy), 3 with myopathies (1 with dilated cardiomyopathy), 2 with progressive external oftalmoplegia (1 associated with cerebellar ataxia+epilepsy+hypertrophic cardiomyopathy+pes cavus), 4 with encephalopathies (3 with myoclonic encephalopathies with ataxia and dementia and 1 with epilepsy and tremor), and 1 with metabolic acidosis and cardiomyopathy. We used the following categories of investigative procedures: clinical phenotype analysis including pedigree study, neurophysiological tests, bicycle ergometric evaluation, neuroimaging, microscopic study of skeletal muscle biopsy, post-mortem examination, biochemical assays and molecular genetic studies. EMG showed myopathic changes in 5 cases, features of neuropathy in 2, mixed myopathic and neuropathic pattern in 1 and nonspecific changes in 3. EMG was normal in 3 patients. The most common skeletal muscle abnormalities were variation in fiber size (60%), lipid inclusions (33.3%), oxidative subsarcolemmal aggregates (26.7%) and ragged-red fibers (26.7%). Electron microscopy revealed mitochondrial abnormalities in 8 out of 14 patients' muscle biopsies, and in myocardiac and hepatic tissues of another. Site of biochemical defect was located in 12 patients. Complex I defect in 6, complexes I+IV deficiencies in 3, complex II defect in 1, complex IV deficiency in 1, complexes II+IV deficiencies in 1, and complex III defect in 1. In 2 patients the biochemical defect was not located. Mitochondrial DNA alterations were not found in 7 investigated patients. The clinical spectrum of MD has become increasingly wider. After the clinica suspicion, the diagnosis depends up on the appropriate use of skeletal muscle biopsy, biochemical investigations and molecular genetic techniques. Conventional EMG and automatic measurement of the electromyogram are particularly helpful in confirming the clinical suspicion in patients with predominantly central nervous system disease or in cases in which clinical signs are few.
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PMID:[Clinical and investigative approaches in mitochondrial diseases. A review of 15 cases]. 780 49

Palatal tremor (PT) is frequently caused by brainstem lesions. The inferior olive plays a major role in the pathophysiologic mechanisms involved. We report a case of PT of cortical origin presenting as epilepsia partialis continua. EEG showed continuous left frontocentral epileptiform discharges and both single photon emission computed tomography (SPECT) and positron emission tomography (PET) showed focal hypoperfusion and hypometabolism in the corresponding location.
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PMID:Palatal tremor of cortical origin presenting as epilepsia partialis continua. 782 Dec 79

During the period 1957-1987, 189 patients with neurological signs and symptoms were referred to the Wilson's disease clinic at Addenbrooke's Hospital, Cambridge. The diagnosis was not confirmed in 52 patients. Thirty-three of these 52 patients were sent with a definite diagnosis of Wilson's disease, and 12 had received chelation treatment. Ten patients were labelled as probable Wilson's disease; in nine cases no diagnosis had been made but Wilson's disease was considered a possibility requiring exclusion. One patient only was mistakenly reported to have Kayser-Fleischer rings. The presenting symptoms were tremor (n = 17), involuntary movements (n = 16), difficulty in walking (n = 12), personality changes (n = 4) and epilepsy (n = 3). The mean delay in referral was 8 years (range 6 months to 20 years). Compared with the number of patients with confirmed neurological Wilson's disease seen in this period (137 patients) the referral diagnosis was correct in only 72% of cases. The reasons for error, both clinical and biochemical, are discussed.
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PMID:Not Wilson's disease: a review of misdiagnosed cases. 789 89

To elucidate the neurochemical mechanism of epilepsy, we investigated the role of neurotransmitter systems in the animal models of epilepsy, the mechanism of anticonvulsants and proconvulsants, the neurotransmitters in the CSF of children with epilepsy, and the new therapy for epilepsy. The main results are as follows. 1) In El mice, the increased activity of excitatory amino acids system in cortex and decreased activity of noradrenergic system in striatum and hippocampus were related to the increased seizure susceptibility. 2) GABA sensitivity was reduced in young DBA 2 J mice which are susceptible to audiogenic seizures. 3) Lower benzodiazepine receptor densities were found in hippocampus of 4 and 16 weeks-old tremor rats. GABA concentrations in the cerebral cortex and hippocampus of the tremor rats increased at 5 weeks-old and decreased at 15 weeks-old. These changes may be related to the absence-like seizures in tremor rats. 4) Anticonvulsant mechanism of ACTH may be due to antagonizing glutamate binding. Proconvulsant mechanism of thyroid hormone may be related to the decrease in number of cerebral cortical neuronal benzodiazepine receptors. Penicillin acts its proconvulsant effect through inhibiting GABA-gated chloride ion influx. 5) CSF GABA level in children with infantile spasms was lower than in controls. The combination of vitamin B6 and valproic acid is effective and safe therapy in the treatment of infantile spasms. Further investigations by the neurochemical approaches are necessary to understand the mechanisms of epilepsy and develop the new therapy.
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PMID:[Neurochemical approach to epilepsy]. 790 87

Sodium valproate (VPA) has been in clinical use for the treatment of epilepsy in Switzerland since 1967. A review of the literature associated with our personal experience since 1976 has shown VPA to be a remarkably safe and effective antiepileptic drug in a wide range of epileptic conditions in children and adults. Apparently, VPA is also a safe antiepileptic drug (AED) in old-age epilepsy due to good control of seizure frequency and fewer side effects when compared with other AEDs. Side effects can be minimized by initiating the drug slowly. VPA tended to be associated with fewer neurologic side effects than the other major AEDs. It had minimal impact on cognitive function and was associated with fewer cognitive and behavioral problems than phenytoin and phenobarbital. Sedation is most marked when patients take VPA in combination with other AEDs. The more common dose-related phenomena quite specific to VPA included weight gain, tremor and hair loss and did not usually abate with continued treatment but may respond to a lowering of the dosage or to a change in the dosing regimen. The incidence of gastrointestinal disturbances could be reduced considerably by using either enteric or 'chrono' VPA tablets. VPA chrono regimen in our studies demonstrated the equivalence or even superiority of a single daily dose over divided dosing schedules. There appeared to be no greater prevalence of toxicity, and administration as a single daily dose obviously improved compliance. Fatal hepatotoxicity is a rare, idiosyncratic, not dose-related adverse reaction that has been reported coincident with VPA therapy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Tolerance to and unwanted effects of valproate sodium]. 793 85


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