Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ventricular fluid concentrations of homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA), the respective metabolites of dopamine and serotonin, were measured in 57 patients undergoing thalamotomy for relief of movement disorders. The diseases included were Parkinson disease, dystonia, cerebral palsy, multiple sclerosis, and posttraumatic or posthypoxic encephalopathy. Untreated parkinsonian patients had the lowest mean HVA level (119 ng per milliliter). Patients with multiple sclerosis or with posttraumatic or posthypoxic encephalopathy with both intellectual impairment and bilateral motor involvement had lower mean HVA levels (197 and 177 ng per milliliter, respectively) than cerebral palsy patients with bilateral motor disease (233 ng per milliliter), dystonia patients (246 ng per milliliter), or multiple sclerosis patients with normal intellect (376 ng per milliliter). The data suggest that diffuse cerebral disease may lead to diminished dopaminergic activity. Ventricular fluid 5-HIAA levels were similar in all groups of patients. Chronic cerebellar stimulation markedly increased ventricular fluid HVA and 5-HIAA levels, indicating that cerebellar stimulation affected cerebral dopaminergic and serotonergic systems.
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PMID:Ventricular fluid homovanillic acid and 5-hydroxyindoleacetic acid concentrations in patients with movement disorders. 56 83

Homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA), the respective metabolites of dopamine and serotonin, were measured in ventricular fluid obtained from 20 patients with torsion dystonia at the time of ventriculography prior to thalamic surgery. The patients could be divided into two distinct types of dystonia--childhood-onset and adult-onset--which were identifiable on clinical and biochemical grounds. In the 14 patients with childhood-onset dystonia, the first symptom appeared in one limb in early childhood and the disease usually progressed rapidly. In the six patients with adult-onset dystonia, the first symptom usually appeared in axial muscles after adolescence and the disease progressed slowly. Ventricular fluid HVA levels were significantly lower in the patients with adult-onset dystonia than in those with childhood-onset dystonia. The differences suggest diminished dopaminergic activity, possibly secondary to nigrostriatal dysfunction, in adult-onset dystonia.
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PMID:Diminished ventricular fluid dopamine metabolites in adult-onset dystonia. 56 84

We report a case of rhabdomyolysis in a 13-year-old Down syndrome patient with progressive quadriplegia, choreoathetosis and dystonia. Cranial CT demonstrated bilateral basal ganglia calcification. He experienced the sudden onset of high fever, cloudiness of consciousness, muscle rigidity and severe opisthotonus. The diagnosis was made on the basis of the marked increases in serum creatine kinase and myoglobin. There was remarkable elevation of 5-hydroxyindoleacetic acid, homovanillic acid and methoxy-hydroxyphenyl glycol in the cerebrospinal fluid during hyperpyrexia. This case exhibited almost all the diagnostic criteria of the neuroleptic malignant syndrome. It was suggested that abnormalities of monoamines in the central nervous system may be related to the pathologic etiology of this state and rhabdomyolysis.
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PMID:Neuroleptic malignant syndrome-like state in a patient with Down syndrome and basal ganglia calcification. 128 6

We studied 5 boys, 2 to 10 years old, with marked or complete deficiency of hypoxanthine-guanine phosphoribosyltransferase and Lesch-Nyhan syndrome with varying degrees of mental retardation, dysarthria, chorea, dystonia, spasticity, and ataxia. Four patients had marked reduction of homovanillic acid in the cerebrospinal fluid (CSF) and all showed low CSF 3-methoxy-4-hydroxy phenylethylene glycol, indicating reduced dopamine and norepinephrine turnover. Three patients showed high CSF 5-hydroxyindoleacetic acid, suggesting increased serotonin turnover. Some patients improved with carbidopa-levodopa, but others benefited from tetrabenazine, a monoamine-depleting agent. This study provides support for the theory of abnormal central monoamine metabolism in Lesch-Nyhan syndrome.
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PMID:Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters. 245 72

A daughter and her mother developed hereditary progressive dystonia with marked diurnal fluctuation (HPD) at the age of 4 and 34, respectively. L-Dopa, tetrahydrobiopterin (BH4) or 5-hydroxytryptophan (5-HTP) was orally administered to them. L-Dopa cured completely their symptoms. 5-HTP as well as BH4 improved their symptoms, especially dystonic movements. Biopterin and 5-hydroxyindoleacetic acid concentrations in CSF increased during BH4 medication. These findings suggest that the serotonergic system of the central nervous system might play some role in the pathogenesis of dystonia in HPD.
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PMID:Effect of tetrahydrobiopterin and 5-hydroxytryptophan on hereditary progressive dystonia with marked diurnal fluctuation: a suggestion of the serotonergic system involvement. 325 39

Studies were performed on 5 patients with idiopathic dystonia-parkinsonism, each of whom had minor dystonic movements and parkinsonian symptoms with marked diurnal fluctuation. Levels of homovanillic acid and 5-hydroxyindoleacetic acid were not different from those in controls. Considerable improvement in dystonic movements and parkinsonian symptoms was obtained with a small dose of L-dopa, trihexyphenidyl hydrochloride, amantadine, or bromocriptine hydrochloride. Electrophysiological investigation confirmed that the dystonic movements, which became remarkably worsened on attempted movement, contributed importantly to the diurnal fluctuation of symptoms.
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PMID:Idiopathic dystonia-parkinsonism with marked diurnal fluctuation of symptoms. 398 84

Brains from Cebus Apella monkeys have been mapped biochemically using a cryo-section technique which enables exact micro-dissectioning of tissue. Two neurotransmitters; noradrenaline (NA) and gamma-amino-butyric acid (GABA) were measured by gas chromatography-masspectrometry technique. In addition biochemical markers reflecting metabolic activity in the dopamine (homovanillic acid, HVA, 3, 4-dihydroxyphenylacetic acid, DOPAC), serotonin (5-hydroxyindoleacetic acid, 5-HIAA), noradrenaline (4-hydroxy-3-methoxy-phenylglycol, HMPG), acetylcholine (choline acetyltransferase, CAT) and GABA (glutamic acid decarboxylase, GAD) transmitter systems were assayed. The distribution of these transmitter markers roughly corresponded to earlier studies in other non-human primates, whereas similar studies on the human brain generally show lower concentrations and enzyme activities. One monkey exposed to severe stress immediately before death deviated from the normal animals with regard to HVA, 5-HIAA, GAD and GABA. For the study of neuroleptic drugs, and notably their neurological side-effects, Cebus Apella monkeys have turned out to be particularly useful. In our laboratory we have employed this species of monkey to develop a model for acute dystonia and tardive dyskinesia (Gunne and Barany 1976, 1979, Barany et al. 1979). As a first step in the topological mapping of brain neuro-chemistry in these animals we here present data from normal monkeys, not treated with neuroleptics. During the ongoing project there was an unplanned "stress experiment" in one monkey, which had a nightly fight with a cage partner and had to be sacrificed the morning after due to severe wounds. The present communication describes a method for obtaining well-defined samples from monkey brains and presents the data on homovanillic acid (HVA), 3.4-dihydroxyphenylacetic acid (DOPAC), 5-hydroxyindoleacetic acid (5-HIAA), noradrenaline (NA), 4-hydroxy-3-methoxy-phenyl glycol (HMPG), choline acetyltransferase (ChAT), glutamic acid decarboxylase (GAD), and gamma-amino-butyric acid (GABA) in discrete regions from 7 drug-naive control monkeys. Also data from the stressed animal are presented.
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PMID:Discrete regional distribution of biochemical markers for the dopamine, noradrenaline, serotonin, GABA and acetylcholine systems in the monkey brain (Cebus Apella). Effects of stress. 615 Jun 1

The genetically dystonic hamster is an animal model of idiopathic (torsion) dystonia that displays sustained abnormal movements and postures either spontaneously or in response to mild environmental stimuli. Since dystonic attacks occur in the absence of any lesion which can be defined by standard histopathological techniques in the central nervous system, the presumption is that dystonia in mutant hamsters is due to some biochemical disturbance activity in brain regions involved in motor functions. In the present study we determined the monoamine neurotransmitters dopamine, noradrenaline, adrenaline and serotonin (5-HT) as well as the dopamine metabolites homovanillic acid (HVA) and dihydroxyphenylacetic acid (DOPAC) and the 5-HT metabolite 5-hydroxyindoleacetic acid (5-HIAA) in 14 brain regions of male and female dystonic hamsters and age-matched non-dystonic controls. All determinations were done at age of maximum susceptibility for induction of dystonic attacks. Since both genders of dystonic hamsters exhibit the same characteristic age-dependent time-course of dystonia, it was assumed that only those biochemical alterations are critically involved in dystonia that occur in both female and male animals. The neurochemical data show that except for a significant decrease of dopamine and HVA in the olfactory bulb, no consistent changes in dopamine metabolism are present across brain regions, including the basal ganglia, of dystonic hamsters. In contrast, marked increases in noradrenaline and 5-HT or 5-HIAA were found in several brain areas of both genders, indicating an enhanced activity of central noradrenergic and serotonergic nuclei in the brainstem. The present results suggest the involvement of noradrenergic and serotonergic neural systems in the pathophysiology of dystonia. Based on these data and recent theoretical suggestions from clinical findings, drugs which reduce noradrenergic and serotonergic neurotransmission may be a useful therapeutic approach to dystonia.
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PMID:Marked regional disturbances in brain metabolism of monoaminergic neurotransmitters in the genetically dystonic hamster. 783 42

Niemann-Pick disease Type C (NPC) is a progressive neurovisceral metabolic disorder that is caused in most patients by a defect in a recently found gene, NPC-1. Neurological damage includes visual disorders such as vertical supranuclear gaze palsy, movement disorders such as dystonia and ataxia, dementia, and seizures. So far the biochemical deficit, most likely manifested by delayed intracellular cholesterol transport, has not been correlated with the progressive neurological damage. A mutant Balb/C mouse with a defect in the same gene is used as a model to study NPC. Pathological examination of brain tissue obtained by autopsy from NPC patients or brains of affected NPC mice of different ages, revealed signs of extensive damage throughout the brain, including neurofibrillary tangles and intracellular storage of various compounds. Loss of cerebellar Purkinje cells was the most significant specific damage. The present study examined whether the neurochemical changes present in the NPC mouse brain were related to the pathological changes. The results show major alterations in the levels of serotonin and its main metabolite, 5-hydroxyindoleacetic acid, in the cerebellum and cortex of NPC mice. The levels of the inhibitory amino acid glycine were threefold higher in the cerebellum of NPC mice and those of glutamate and GABA decreased in the cortex. Tyrosine hydroxylase immunoreactivity was present in Purkinje cells, and the levels of L-DOPA increased specifically in the vermis of the cerebellum. These results are the first to indicate changes in neurotransmitters in NPC and that these could be correlated with some of the neuropathology of this disease.
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PMID:Neurochemical alterations in the cerebellum of a murine model of Niemann-Pick type C disease. 967 2

A 4-year-old boy presented with a history of paroxysmal dystonic posturing since birth. Episodes were triggered by stress, fatigue, and cold. Sleep, for as short as 1 minute, resulted in complete resolution of dystonia. He was developmentally normal, with no focal neurologic deficits. Cerebrospinal fluid, homovanillic acid (HVA), and 5-hydroxyindoleacetic acid (5-HIAA) were borderline low. On ictal spectroscopy, there was reduced blood flow to the right temporal region, caudate nuclei, and thalami. The typical infantile form of dystonia is benign, resolving by 2 years of age in an otherwise normal child. Our patient remains symptomatic at 4 years of age.
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PMID:Infantile-onset paroxysmal dystonia: a diagnostic dilemma. 1130 92


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