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)

During childhood, Wilson's disease becomes manifest mostly in the hepatic form. In children every case of cirrhosis of the liver, hemolysis with high levels of conjugated bilirubin in the serum, and otherwise in explicable tremor make it imperative to exclude or confirm the existence of Wilson's disease. A false diagnosis often delays the start of therapy with d-penicillamine and low-copper diet. The prognosis, which was still fatal a few years ago, has improved considerably thanks to new therapeutic possibilities.
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PMID:[Morbus Wilson--pathogenesis, diagnosis, therapy, and course (author's transl)]. 60 Feb 71

A patient with cryptogenic cirrhosis was found to have corneal pigmentation rings indistinguishable from Kayser-Fleischer rings on slit-lamp examination. Although she had hepatic encephalopathy that included confusion, tremor, and slurred speech, diagnosis of Wilson's disease was ruled out because urinary cooper excretion and hepatic copper concentrations were below the range found in symptomatic Wilson's disease. The exact nature of these rings could not be determined, and they were considered as Kayser-Fleischer-like rings.
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PMID:Kayser-Fleischer-like ring in a cryptogenic cirrhosis. 71 54

One group of 20 adult female rats was fed ad libitum for four months with a synthetic regime containing less than 1 p.p.m. Cu. A second group received the same regime, supplemented with Cu and containing 87 p.p.m. on the 1st month, 109 p.p.m. in the 2nd and 3rd and 158 p.p.m. in the 4th month. Hairs were not clipped at the beginning of the experiment. Five rats of both groups were killed at the end of each month and Cu was determined in blood, liver, femur, and hair. Hair was washed with a water-ethanol (I/I/I) solution for 30 minutes under mechanical shaking, and Cu was determined in the washing solution (leachable copper) and in hair (stable copper). No clinical symptoms of Cu deficiency were observed. However there was an early and important drop (p less than 0.001) in blood and liver copper as early as the first month, which continued until the end of the experiment. Stable hair Cu dropped slightly on the first month (p less than 0.005) and continued to do so on the following three months (p less than 0.001). Hair leachable Cu and bone Cu were unaffected by the deficiency. Liver Cu increased at the 158 p.p.m. level of intake on the fourth month.
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PMID:[Time and level of response of plasma, liver bone, leachable and stable hair fractions to copper deficiency and loading in the rat (author's transl)]. 116 66

Acetobacter aceti produces two different terminal oxidases dependent on the culture conditions, shaking and static cultures. Cells grown on shaking culture contain cytochrome a1, while cytochrome o is present in cells grown on static culture. Cytochrome a1 and cytochrome o of A. aceti were compared especially with respect to the protein structure and the prosthetic groups. Cytochrome a1 exhibited lower CN sensitivity and higher affinity for O2 than cytochrome o. Both terminal oxidases consisted of four nonidentical polypeptides of which the molecular sizes were identical between both enzymes. Cytochrome a1 cross-reacted with an antibody raised against cytochrome o at the same level as cytochrome o did, and an antibody elicited against cytochrome a1 cross-reacted with both cytochrome o and cytochrome a1 at the same intensity, which indicates that both oxidases are indistinguishable immunochemically. Furthermore, almost the same peptide mapping pattern with chymotrypsin was observed in subunit I and in subunit II between both terminal oxidases, and the amino-terminal sequences in the subunit II of both oxidases were identical at least in their 10 amino acids. As for the prosthetic groups, both oxidases were shown to contain two heme-irons and one copper atom. Further, high performance liquid chromatography analysis of the heme moieties extracted from both the purified enzymes indicated that cytochrome a1 contains hemes b and a at a ratio of 1 to 1, whereas cytochrome o contains the same amounts of hemes b and o. Thus, data indicate that cytochrome a1 and cytochrome o of A. aceti are cytochrome ba and cytochrome bo ubiquinol oxidases, respectively, and that both oxidases have a closely similar protein structure and prosthetic groups, in which only heme a in the heme/copper binuclear center of cytochrome a1 is replaced by heme o in that of cytochrome o.
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PMID:Homology in the structure and the prosthetic groups between two different terminal ubiquinol oxidases, cytochrome a1 and cytochrome o, of Acetobacter aceti. 133 65

The content of catecholamines in the striatum was measured in 2 patients suffering from hepatocerebral dystrophy (Wilson-Konovalov disease). It is noted that in different clinical manifestations of the disease, the changes in the content of noradrenaline in the striatum varied. A male patient with marked tremor spreading manifested a considerable rise of the content of catecholamines, primarily in the n. caudatus. At the same time in a female patient with a grave akinetic -rigid syndrome and the signs of liver failure, the content of catecholamines, particularly dopamine, in the putamen was low. In view of this fact it is assumed that disorders of cerebral metabolism of catecholamines, dopamine in particular, evidently related to deposition of excess copper, leading to the changes of their content in basal ganglia underline the clinical pleomorphism of the disease and play the key role in the development of extrapyramidal motor disturbances characteristic of hepatocerebral dystrophy.
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PMID:[Pathological status of catecholamines in the corpus striatum in hepatocerebral dystrophy (Wilson-Konovalov disease)]. 133 12

Hepatocerebral degeneration is a hereditary copper metabolic disorder caused by yet unknown pathological process in the 13th chromosome. The disease is more frequent than is usually believed and has systemic characteristics, although the central nervous system and liver are most often affected. The authors describe 35 patients with neurological form of the disease (mean age 29.3 +/- 1.9 years; mean duration of the disease 3.8 +/- 1.7 years). The most frequent symptoms of these patients are dysarthria (88.6%), tremor (85.7%) and rigidity (80%), while elevated liver copper concentration (97.1%) presents the most frequent biochemical disorder of the copper metabolism. Contrary to common opinion about the pathognomy of Kayser-Fleischer ring, its existence is confirmed in only 60% of the patients. On the basis of the author's own results, along with the reference to already described data from literature, the authors give a survey of current knowledge about hepatocerebral degeneration.
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PMID:[Hepatocerebral degeneration]. 166 33

As a possible preventive measure for brain dysfunction in Menkes disease, prenatal treatment by maternal administration of zinc, vitamin E and copper was examined in brindled mutant mice. During pregnancy and lactation, female heterozygous mice received 20 ppm zinc or 0.004% alpha-tocopherol acetate (vitamin E) throughout and 6 ppm copper from gestational day 13 in the drinking fluid, ad libitum. The maternal administration of zinc and vitamin E, as antioxidants, or copper resulted in decreased fetal and neonatal death of offspring, especially those of hemizygous males, as compared with the administration of water only. When offspring did not grow, maternal abnormal movements, which comprised rotatory movements of high speed with tremor and ataxia, were frequently observed. In the heterozygotes with abnormal movements, the level of lipid peroxidation in cerebrum and the concentration of copper in kidney were much higher than those in the heterozygotes with normal movement. Morphologically, in cerebellum of the heterozygotes with abnormal movements, the loss of Purkinje cells, abundance of lipofuscin granules and abnormal mitochondria or degenerative bodies of high electron density were frequently observed, as compared with heterozygotes with normal movement. These findings suggest that the development of hemizygous male mice may be influenced by both copper and oxygen radical metabolism.
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PMID:Abnormal movements in brindled mutant mouse heterozygotes: as related to the development of their offspring--biochemical and morphological studies. 216 11

Neurological form of Wilson's disease in children usually manifests with dystonia as the initial sign. Tremor of extremities, dysarthria and ataxia may follow. Copper deposits in gray and white matter along with the basal ganglia. A pediatric case presenting with tremor of the tongue and dysarthria as the only findings of Wilson's disease is reported. Tongue tremor should also be taken into notice within the basal ganglia symptomatology.
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PMID:Tremor of tongue and dysarthria as the sole manifestation of Wilson's disease. 217 43

Thirty-eight patients with biochemically proven Wilson's disease underwent magnetic resonance-imaging (MRI) of the brain as well as neurological examinations. The patients were scanned using spin-echo (SE) sequences; the neurologist was looking for typical symptoms: dysarthria, tremor, ataxia, rigidity/bradykinesia and chorea/dystonia. Pathological MR findings believed secondary to this uncommon inherited disorder of copper metabolism were found in twenty-two subjects. Focal abnormalities were seen in the lenticular, thalamic and caudate nuclei as well as in brain stem and white matter; these lesions were best demonstrated on T2-weighted sequences as hyperintense areas. In eight patients we found diffuse brain atrophy with consecutive widening of the ventricular system. Five subjects showed mild, nineteen severe neurologic deficits. Generally there was no correlation between MR findings and clinical neurological symptoms; the impairment of cell-metabolism causing functional alterations of the brain precedes morphological changes. During treatment with the copper chelator D-penicillamine there seemed to be a phased course of disease. Shortening of T1-relaxation due to paramagnetic influence of copper was not seen; a possible explanation could be intracellular deposition--a proton-electron-dipolar-dipolar-interaction would therefore be impossible.
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PMID:Cranial MRI in Wilson's disease. 221 6

Copper phthalocyanine tetrasulphonic acid (CPTS) functions were introduced into magnetic semi-permeable polyethyleneimine (PEI) microcapsules in order to create a recoverable scavenging system for trapping and biomonitoring, within the gastrointestinal cavity, of mutagens having a planar molecular structure. Stable ionic CPTS and covalent (thionylated CPTS, TCPTS) adducts to the microcapsule PEI were produced and shown to trap benzo[a]pyrene (B[a]P) in vitro in relation to the porphyrin/B[a]P ratio employed. 3-hydroxy B[a]P and B[a]P 3,6-dione from a crude B[a]P metabolite mixture, and a set of planar mutagens from crude opium/morphine pyrolysate mixtures could also be recovered in 7-86% yields after shaking with modified microcapsules followed by methanol/ammonia (50:1) desorption. Tetraols derived from B[a]P 7,8-diol-9,10 epoxide could also be recovered. Modified microcapsules were recovered magnetically from faeces of rats treated with [14C]B[a]P, and 45-51% of trapped radioactivity could be directly desorbed for HPLC assay compared with 30% for unmodified microscapsules. The relative extent of trapping by unmodified or CPTS- or TCPTS-modified microcapsules was different for various substrates, and it appears that the copper phthalocyanine tetrasulphonic acid moiety competes with another unidentified absorption/desorption structure in the microcapsules. These results show that selective and reversible trapping of carcinogens/mutagens having planar molecular structure can be achieved within the gastrointestinal tract.
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PMID:Copper phthalocyanine labelled magnetic microcapsules: preparation, and binding properties in vitro and in vivo for mutagens having planar molecular structure. 222 31


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