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)

Striatal 18F-Dopa uptake and glucose metabolism were studied by positron emission tomography with 6-L-[18F]fluorodopa and [18F]fluorodeoxyglucose, respectively, in 8 patients with idiopathic dystonia. Patients with abnormal findings on the brain CT and MRI were excluded from this study. The clinical diagnosis consisted of torsion dystonia in 3 patients, focal dystonia limited in the arm in 3 and cervical dystonia (spasmodic torticollis) in 2. The 18F-Dopa uptake, corrected by nonspecific retention in the cerebellum, at 120 min post-administration was evaluated, and increased 18F-Dopa uptake in the putamen and in the caudate head was observed in the patients with idiopathic dystonia compared to the normal controls. The striatal glucose metabolism in the patients with idiopathic dystonia showed no difference with the normal controls. These findings suggest that pathogenetic mechanism of idiopathic dystonia involves increased presynaptic activity of the dopaminergic system in the striatum.
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PMID:Increased striatal 18F-dopa uptake and normal glucose metabolism in idiopathic dystonia syndrome. 143 86

We studied 15 dystonic patients with positron emission tomography (PET) and (18F)-2-fluoro-2-deoxy-D-glucose (FDG). The group comprised patients with focal (n = 5), multifocal (n = 1), and generalized (n = 4) dystonia as well as patients with hemidystonia (n = 5). The age at onset was during childhood in four, during adolescence in two, and during adulthood in nine of the subjects. In dystonic patients, global cerebral glucose metabolism was unaltered when compared with normal controls, whereas the pattern of regional cerebral metabolic rate for glucose (rCMR[Glu]) was significantly different (p = 0.0001). rCMR(Glu) was significantly decreased in the caudate and lentiform nucleus and in the frontal projection field of the mediodorsal thalamic nucleus. The study confirms the concept that dystonia is caused by impaired connections between the basal ganglia, the thalamus, and frontal association areas.
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PMID:Positron emission tomography demonstrates frontal cortex and basal ganglia hypometabolism in dystonia. 164 Nov 50

On four occasions since 1978, this 53 year-old woman presented with a right hemicorporal hypotonia, symptomatic of a hemispheric cerebellar syndrome. In 1981, she experienced the progressive development of a cervical dystonia. CT scan and RM scan showed a cavernous angioma in the right cerebellar hemisphere. The 18F-2-fluoro-2-deoxy-glucose PET scan revealed a right cerebellar and a contralateral cortical and striatal hypometabolism. This crossed cerebello-cortical diaschisis can be interpreted as a functional interruption of the cerebello-cerebral pathways. This case raises the question of the role played by a cerebellar lesion in the development of a focal dystonia.
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PMID:[Cerebellar cavernous angioma, cervical dystonia and crossed cortical diaschisis]. 196 70

Thirteen positron emission tomographic studies of cerebral glucose utilization were carried out in 12 patients with postanoxic syndrome due to cardiac arrest. Seven subjects were in a persistent vegetative state. The 5 other subjects were normally conscious, but disclosed focal neurological signs. When compared with normal values, mean cerebral glucose metabolism was drastically decreased (+/- 50%) in vegetative subjects, and to a lesser degree (+/- 25%) in conscious patients. The most consistent regional alterations were found in the parieto-occipital cortex (9 cases), the frontier between vertebral and carotid arterial territories, followed by the frontomesial junction (5 cases), the striatum (3 cases with dystonia), thalamus (2 cases), and visual cortex (2 cases with cortical blindness). These data suggest that brain anoxia can result in global brain hypometabolism, which appears related to the vigilance state, as well as in regional alterations preferentially located in arterial border zones.
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PMID:Brain glucose metabolism in postanoxic syndrome. Positron emission tomographic study. 230 91

Rats with an inherited movement disorder (dystonic, dt), their phenotypically normal littermates, and normal unrelated controls were studied using a metabolic mapping technique, 2-deoxyglucose autoradiography. This approach was used to identify potential sites of abnormality underlying the movement disorder, as no morphological abnormalities using light and electron microscopic techniques have been identified in this mutation. There was a significant overall glucose utilization (GU) reduction in the dt rats and their littermate controls when they were at rest and not displaying abnormal movements. Conversion of GU values to standard scores showed abnormalities in dt compared with both control groups in the following areas: deep cerebellar nuclei, locus coeruleus, pontine gray, ventrolateral-ventromedial thalamic complex, nucleus of the third nerve, lateral habenula, and basolateral amygdala. Littermates were different from nonlittermates in several regions, including the dentate and red nuclei. A study of relative GU performed in animals displaying dystonic movements also showed abnormalities in the deep cerebellar nuclei and locus coeruleus, and in the red nucleus, external cuneate, and medial septum. Correlations computed for GU in pairs of regions with known anatomical connections suggested that cerebellar, substantia nigra, and basal ganglia efferents may be abnormal. These studies complement existing biochemical and neuropharmacological data which show abnormalities in the cerebellum of the dt rat. Additionally, the function of brain stem and even basal ganglia nuclei is affected in this mutant, perhaps as a consequence of abnormal cerebellar activity. The partial effects in the littermates suggest that abnormalities in only a few regions are not sufficient to produce the movement disorder, and a gene dose effect may exist.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Regional cerebral glucose utilization reveals widespread abnormalities in the motor system of the rat mutant dystonic. 258 66

Progressive supranuclear palsy (PSP) is characterized by supranuclear palsy of gaze, axial dystonia, bradykinesia, rigidity, and a progressive dementia. Pathological changes in this disorder are generally restricted to subcortical structures, yet the type and range of cognitive deficits suggest the involvement of many cerebral regions. We examined the extent of functional impairment to cerebral cortical and subcortical structures as measured by the level of glucose metabolic activity at rest. Fourteen patients with PSP were compared to 21 normal volunteers of similar age using 18F-2-fluoro-2-deoxy-D-glucose and positron emission tomography. Glucose metabolism was reduced in the caudate nucleus, putamen, thalamus, pons, and cerebral cortex, but not in the cerebellum in the patients with PSP as compared to the normal subjects. Analysis of individual brain regions revealed significant declines in cerebral glucose utilization in most regions throughout the cerebral cortex, particularly those in the superior half of the frontal lobe. Declines in the most affected regions of cerebral cortex were greater than those in any single subcortical structure. Although using conventional neuropathological techniques the cerebral cortex appears to be unaffected in PSP, significant and pervasive functional impairments in both cortical and subcortical structures are present. These observations help to account for the constellation of cognitive symptoms in individual patients with PSP and the difficulty encountered in identifying a characteristic psychometric profile for this group of patients.
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PMID:Cerebral hypometabolism in progressive supranuclear palsy studied with positron emission tomography. 326 62

Regional cerebral glucose metabolism was studied in 16 patients with idiopathic torticollis, using positron emission tomography. Analysis of subcortical regions revealed no consistent focal abnormality of cerebral metabolic rate for glucose, but there was a bilateral breakdown of the normal relationships between the thalamus and basal ganglia. The findings suggest disruption of the pallidothalamic projections in this focal dystonia and may imply a disturbance of GABA.
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PMID:PET studies of cerebral glucose metabolism in idiopathic torticollis. 348 80

Central hemodynamics, myocardial contractility and consumption of major energy substrates (lactate, glucose, non-esterified fatty acids, NEFA), as well as the total R wave amplitude from 12 standard leads were assessed in 20 patients with neurocirculatory dystonia (the control group) and 36 patients with chronic coronary disease. The changes in central hemodynamics and contractility were particularly marked in 12 of the more severe coronary cases with a raised total R wave amplitude. Myocardial energy supply in such patients is provided at the expense of NEFA. The mildest cases, whose total R wave amplitude was as low as that of the controls, showed unchanged left-ventricular contractility and normal hemodynamic response to the atrial stimulation test. Myocardial glucose and lactate extraction prevails in these patients. It is suggested that a relationship may exist between the pattern of myocardial energy metabolism and the amplitude of electrocardiographic R wave.
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PMID:[Comparison of the indices of left ventricular pumping function, contractility, myocardial metabolism and the magnitude of the R wave on the ECG of ischemic heart disease patients]. 402 Dec 98

The levels of insulin, glucagon, lactate, glucose and nonesterified fatty acids were studied in the plasma of arterial blood and coronary sinus during diagnostic catheterization of the heart and the precardiac stimulation test in patients with coronary heart disease (CHD) and in those with neuro-circulatory dystonia attended by cardialgia. Manifest lactate production by the myocardium was recorded in CHD patients, during the development of anginal attacks, in the precardiac stimulation test. The character of changes in the insulin, glucagon, glucose and nonesterified fatty acids levels was similar in both the groups of patients, thus reflecting the body response to the stress, while the stress adaptation was more complete in the patients with no coronary disease.
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PMID:[Insulin and glucagon content of coronary sinus and left ventricle blood in myocardial ischemia]. 635 27

Clinical characteristics of ten patients with Friedreich's disease are presented. Two cases were members of the same family, another patient had a brother with the disease, and in two cases there was consanguinity. The dominant inheritance pattern was absent in all cases. Initial symptoms and clinical signs were present under 5 years of age in six cases, and in three of them under 2 years of age. As reported in other series, in our cases the disorder first appeared in the legs. Other early manifestations included skeletal deformities and dysarthria, as well as diplopia, paresthesias and dizziness. Friedreich's ataxia results from pyramidal tract degeneration and changes in the cerebellum. Babinski sign was present in nine patients. Other findings were: muscular weakness, distal amyotrophy and distal dystonia. Two patients suffered epileptic attacks with typical EEG pattern. Kyphoscoliosis and pes cavum were constant skeletal deformities. ECG revealed signs of myocardial ischemis in nine patients, although none of them had symptomatology of heart disease. Glucose tolerance test carried out in three cases showed diabetic curves. Results of nerve speed conduction were as follows: normal in one case; decreased sensitive speed conduction in four cases, and decrease of both sensitive and motor speed conduction in other four cases. EMG showed signs of chronic denervation in three cases. These results coincide with those published by other authors.
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PMID:[Friedreich's disease. Clinical study of ten cases (author's transl)]. 737 33


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