Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a retrospective study typical signs and lesions of enzootic ataxia or swayback were found in 16 young dairy goats from eight widely scattered herds in California. In addition to the constant appearance of chromatolytic neurons in brainstem and spinal cord, and myelin deficiency in certain tracts of the cord, cerebellar hypoplasia was found frequently. Liver copper was subnormal in six of nine kids tested. The disease is viewed as a developmental defect in which failure of neuronal perikaryon metabolism leads to distal axonopathy with secondary demyelination.
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PMID:California goats with a disease resembling enzootic ataxia or swayback. 56 81

An 18-month-old alpaca developed nervous signs, including swaying of the head and neck, a wide-based stance and hind-limb ataxia. No certain diagnosis was made but the animal recovered after successive treatment with amoxycillin, vitamin B1, ivermectin and copper oxide, followed by vitamin E and selenium. The differential diagnosis rationale of treatment is described.
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PMID:Ataxia and head tremor in an alpaca (Lama pacos) 832 51

A 2-year-old girl with granulocytopenia developed fever followed by truncal ataxia and progressive neurologic regression. CT demonstrated symmetric low-density areas in the cerebral white matter. Sural nerve biopsy revealed axonal degeneration. Blood lactate levels were high, and serum levels of copper and ceruloplasmin and urinary excretion of copper were low. Cultured skin fibroblasts showed normal copper uptake. Treatment with oral copper administration normalized serum copper and ceruloplasmin levels, blood lactate levels, and granulocyte count. However, copper levels in the CSF were still low, and the patient showed no clinical improvement. We speculated that copper transport across the intestinal wall and across the blood-brain barrier was impaired.
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PMID:Non-Menkes-type copper deficiency with regression, lactic acidosis, and granulocytopenia. 186 16

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

Hepatolenticular degeneration (Wilson's disease) is a hereditary disease in which metabolic disorder of copper leads to its accumulation in the liver, brain, cornea and kidneys with consequent pathologic changes in those organs. Hereditary mechanism of the disease is autosomal recessive with prevalence of 30-100 per 1,000,000 inhabitants. Etiology of this disease is not yet explained. There are two hypotheses. The first one is that it is the disorder of ceruloplasmine metabolism caused by insufficient synthesis of normal ceruloplasmine, or synthesis of functionally abnormal ceruloplasmine. The second one is: the block of copper biliar excretion which is the consequence of the liver lysosomes functional defect. Pathogenetic mechanism of disease is firstly long-term accumulation of copper in the liver, and later, when the liver depo is full, its releasing in circulation and accumulation in the brain, cornea, kidneys and bones, which causes adequate pathologic changes. Toxic activity of copper is the consequence of its activity on enzymes, particularly on those with -SH group. There are two basic clinical forms of the disease: liver disease or neurologic disease. Before puberty the liver damage is more frequent, while in adolescents and young adults neurologic form of the disease is usual. The liver disease is nonspecific and characterized by symptoms of cirrhosis and chronic aggressive hepatitis. The only specificity is hemolytic anemia which, in combination with previous symptoms, is important for diagnosis of the disease. Neurologic symptoms are the most frequent consequence of pathologic changes in the basal ganglia. In our patients the most frequent symptoms were tremor (63%); dysarthria, choreoathetosis and rigor (38%); ataxia and mental disorders (31%); dysphagia and dystonia (12%), diplopia, hypersalivation, nystagmus and Babinski's sign (6%). Among pathologic changes in other tissues and organs the most important is the finding of Kayser-Fleischer ring in the cornea as a result of copper accumulation. Its importance for precise diagnosis is great. The diagnosis of the disease is based on anamnesis, clinical examination, specific and nonspecific laboratory tests. The therapy of choice is penicillamine. If we use it early, the result will be good remission in the majority of patients. Late diagnosis or delay in treatment cause death which is the result of bleeding from esophageal varices or basal ganglia disease. Immunologic damages caused by penicillamine demand interruption of therapy and substitution by three-ethyl-tetra-amine (TETA). We also use zinc salts and tetratiomolibdate in therapy of this disease. Pathogenesis, clinical picture and therapy of the disease are based on our own results.
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PMID:[Hepatolenticular degeneration]. 226 49

A posterior ataxia or paralysis in goats and sheep is a syndrome known as Shalal within the Sultanate of Oman. An investigation was carried out into the etiology of the syndrome. Samples of blood and tissues were obtained from normal and Shalal-affected goats and sheep. Samples of feed were collected from the affected areas of the Sultanate. Chemical analyses of samples showed that affected animals suffered from severe copper deficiency in spite of sufficient copper contents in feed. However, concentrations of sulphur and iron in the feed were high. It was concluded that the Shalal syndrome in Oman is the condition generally known as swayback or enzootic ataxia caused by conditioned copper deficiency. The deficiency is probably due to copper-sulphur and copper-iron interactions in the rumen, enhanced by feeding of fresh roughage containing rumen degradable proteins.
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PMID:Copper deficiency and posterior paralysis (Shalal) in small ruminants in the Sultanate of Oman. 228 6

This study was undertaken to elucidate the clinical and neuropathological effects of copper administration on the macular mutant mouse. Its hemizygote, which is considered to be a model of Menkes kinky hair disease (MKHD), was injected intraperitoneally four times with 10, 20, 20 and 30 micrograms of cupric chloride on days 4, 6, 8 and 10, respectively. The hemizygote's curly whiskers gradually straightened and the frequent tonic seizures and ataxia disappeared after the injections. The body weight also gradually increased. In the cerebral cortex, the dendritic arborization of the pyramidal neurons in both the normal littermate and the treated hemizygote developed with time and reached the maximum around day 60. In the treated hemizygote, however, the arborization of the dendrites was significantly poor in comparison with that in the normal littermate from day 20 to 90. In the cerebellum of the treated hemizygote, the abnormal Purkinje cells with the few somal sprouts, thick stem dendrite and/or poor arborization, which were seen in the non-treated hemizygote, were improved by day 30, while their focal dendritic swellings remained even on day 60. These results indicate that the copper therapy improves not only the clinical manifestations but also the neuropathological changes, especially in the cerebellum.
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PMID:Golgi study on macular mutant mouse after copper therapy. 246 25

Ataxia was diagnosed in kids from a New England goat herd. Concurrent infection with the caprine arthritis/encephalitis (CAE) virus contributed to the development of hind limb ataxia and weakness in one of the kids. Six kids from this herd had signs of hind limb ataxia and paralysis. Detailed evaluation of 2 of the affected kids revealed low liver and serum copper concentrations and spinal cord demyelination. One kid also had histologic changes in the CNS and lungs, compatible with a diagnosis of CAE. Serum copper concentration was determined in affected goat kids and their dams and was compared with serum copper concentration in clinically normal kids and their dams from the same herd. Serum copper concentration also was measured in dams and kids in a control herd that had no history of ataxia. The mean serum copper concentration in affected kids was 0.125 microgram/ml, compared with 0.45 microgram/ml in unaffected kid herdmates. Kids from the control herd had mean serum copper concentration of 0.6 microgram/ml. Mean serum copper concentration in dams of kids with neurologic signs also was low (0.25 microgram/ml), compared with that (0.5 microgram/ml) in dams of clinically normal kids of the affected herd and that (0.95 microgram/ml) in dams of kids of the control herd. Results of a serologic survey (by use of agar gel immunodiffusion) of the affected herd for CAE indicated that 69.5% of the goats were seropositive. Dietary copper intake was determined to be adequate in this goat herd; therefore, copper deficiency appeared to be conditioned by an interfering substance. However, a search for interfering substances was unrewarding.
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PMID:Enzootic ataxia and caprine arthritis/encephalitis virus infection in a New England goat herd [corrected]. 284


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