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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Various factors affecting the experimental development of nutritional encephalomalacia (NE) were studied in young chicks. The effects of these factors were evaluated by calculation of the age at which one-half were affected (T1/2). The incidence of ataxia and mortality and statistical analysis of the intensity of the disease were also calculated. No differences were found among the safflower oil samples oxidized for periods ranging from 12 to 48 hr in their potency to induce NE, while oil oxidized for 72 hr was less effective. No difference was observed between the effects of oxidized safflower oil and freshly distilled methyl esters of safflower oil on the development of NE. This disorder was more severe in chicks fed a fat-free diet deficient in vitamin E for the first week and then the NE-inducing diet than in chicks fed the NE-inducing diet from hatching. Feeding chicks vitamin E for the first week delayed the development of encephalomalacia but did not prevent it. In order to prevent NE in young chicks fed oxidized safflower oil, a ratio of .3 mg alpha-tocopherol per gram oil was required.
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PMID:Dietary factors affecting experimental models of nutritional encephalomalacia. 708 86

A ten-year-old girl had obstructive jaundice in the newborn period which persisted for 4 years despite choledochojejunostomy at 6 weeks. From the age of 6 years she developed a progressive neurological syndrome characterized mainly by dysarthria and ataxia. A causal relationship with her profound vitamin E deficiency seemed likely. Treatment with vitamin E over a 2 1/2 year period appeared to arrest the progression of the neurological deficit and subsequent increase in dosage produced some improvement in her ataxia.
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PMID:Progressive neurological disorder associated with obstructive jaundice and vitamin E deficiency. 713 35

A major neurological deterioration, beginning with ataxia, led to the diagnosis of familial vitamin E deficiency in a girl. Based upon vitamin E determinations, 4/8 members of the (consanguineous) sibship were considered to be homozygous. Homozygosity was also found for the alleles of six markers linked to the AVED locus, recently identified in similar Tunisian or Sicilian families on chromosome 8q. Measures of vitamin E in lipoprotein fractions and in liver biopsy after vitamin E oral load suggested that free diffusion of vitamin E between the different compartments was possible and even increased. However, a high-affinity ligand seemed to be lacking, either in the hepatic recycling of vitamin E or in both the hepatic and the other vitamin E compartments. The 5-year substitutive treatment was successful only in the pre- or paucisymptomatic patients. Serum vitamin E must be measured in any unexplained progressive ataxia.
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PMID:Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up. 747 1

Friedreich ataxia is an autosomal recessive ataxia with onset usually before puberty whose characteristic clinical features include progressive ataxia of gait and limbs, dysarthria, loss of joint position and vibratory sense, absent knee and ankle jerks, and Babinski signs. Foot deformity, scoliosis, diabetes mellitus, and cardiac involvement are common and characteristic. Patients survive until about age 30 years although longer survivals occur. A later onset, more slowly progressive form seems to be an allelic variant. The basic process seems to be a dying-back of neuronal processes. Using linkage mapping techniques, the classical form of Friedreich ataxia has been localized to 9q13-q21, a region on the long arm of chromosome 9. Haplotype analysis, analysis of recombinants, and physical mapping techniques, including construction of a YAC contig, have narrowed the interval for the Friedreich ataxia gene, FRDA, to a few hundred thousand base pairs. Candidate genes in the region are being studied by techniques of mutation analysis. It is likely that the Freidreich ataxia gene will be cloned soon. A condition resembling Friedreich ataxia with decreased vitamin E levels has been localized to chromosome 8 and is discussed elsewhere.
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PMID:Friedreich ataxia. 761 92

The most common autosomal recessive ataxia is Friedreich's ataxia (FA), characterized mainly by an early onset, absent tendon reflexes, deep sensory loss, cerebellar and Babinski signs. Screening the patients from families with classical FA features, we found that some families were excluded from the FA locus on chromosome 9, and are associated to isolate vitamin E deficiency. The similarity of the clinical data between FA with and without vitamin E deficiency was remarkable. The disorder with vitamin E deficiency often confused with FA, is currently known as linked to chromosome 8q. Therefore it is important to test vitamin E levels in all patients suspected to have FA, since the alpha tocopherol supplementation may be efficient in early stages of the disease.
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PMID:Friedreich's ataxia-vitamin E responsive type. The chromosome 8 locus. 761 93

Ataxia with isolated vitamin E deficiency (AVED) is an autosomal recessive neurodegenerative disease which maps to chromosome 8q13. AVED patients have an impaired ability to incorporate alpha-tocopherol into lipoproteins secreted by the liver, a function putatively attributable to the alpha-tocopherol transfer protein (alpha-TTP). Here we report the identification of three frame-shift mutations in the alpha TTP gene. A 744delA mutation accounts for 68% of the mutant alleles in the 17 families analysed and appears to have spread in North Africa and Italy. This mutation correlates with a severe phenotype but alters only the C-terminal tenth of the protein. Two other mutations were found in single families. The finding of alpha TTP gene mutations in AVED patients substantiates the therapeutic role of vitamin E as a protective agent against neurological damage in this disease.
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PMID:Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. 771 40

The most important neurodegenerative diseases of the horse are reviewed. In addition to the literature, neurodegenerative diseases occurring in patients (horses, Mongolian Przewalski-horses, and two zebras) referred to the Utrecht Veterinary Faculty are mentioned. Neurodegenerative diseases described are: I. ataxia associated with: A/ static stenosis, B/ dynamic stenosis, C/ lesions at various locations in the central nervous system, D/ equine herpesvirus infections, E/ equine degenerative myelo-encephalopathy, or F/ cerebellar abiotrophy; II. equine motor neuron disease; III. grass sickness or equine dysautonomia; IV. postanaesthetic myelomalacia; and V. equine leuko-encephalomalacia. The patient descriptions show, that mixed forms of some of the differentiated diseases can be diagnosed. Little is known with certainty about the aetiology of the neurodegenerative lesions found. In some patients vitamin E may play a role, possibly in combination with other factors. A mycotoxin known to interfere with myelin metabolism is involved in leuko-encephalomalacia.
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PMID:[Neurodegenerative disorders of the central nervous system in horses]. 794 Apr 76

A six-year-old Japanese boy had ataxia, mental retardation, peripheral neuropathy, proximal myopathy, hearing loss, retinitis pigmentosa and deficiencies in apolipoprotein AI, B, CII and CIII. His clinical features except for hearing loss resembled those of abetalipoproteinaemia or symptomatic hypobetalipoproteinaemia, but his apolipoprotein abnormalities were distinct from these disorders. He had apolipoprotein B-100 with a normal molecular weight. Although most of his neurological manifestations were compatible with those of vitamin E deficiency, their early onset and the presence of hearing loss was unusual for that condition. There has been slight deterioration of ataxia during two years follow-up despite high-dose vitamin E supplementation. Other abnormalities in lipid metabolism might be associated with the neurological damage in this case.
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PMID:A variant form of hypobetalipoproteinaemia associated with ataxia, hearing loss and retinitis pigmentosa. 795 7

Four patients with vitamin E deficiency and sensory ataxia were studied using [18F]dopa positron emission tomography. The 2 most disabled patients, who had severe and prolonged vitamin E deficiency due to abetalipoproteinemia, showed reduced [18F]dopa uptake in both putamen and caudate. Putaminal uptake was in a similar range to that seen in Parkinson's disease. Studies of [3H]mazindol binding in the striatum of vitamin E--deficient rats indicated a reduced number of dopamine terminals, which was most severe in ventrolateral striatum. These observations suggest that severe and prolonged vitamin E deficiency results in loss of nigrostriatal nerve terminals, and support the hypothesis that oxidative stress may contribute to the etiology of Parkinson's disease.
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PMID:Nigrostriatal function in vitamin E deficiency: clinical, experimental, and positron emission tomographic studies. 812 82

Experimentally induced salinomycin toxicosis in weanling pigs showed typical clinical signs of an intoxication with a polyether antibiotic. Severe ataxia and recumbency were the most prominent symptoms, which could be attributed to acute skeletal muscle necrosis by estimation of muscle enzyme activities (creatine kinase, aspartate aminotransferase) and histopathological examination. Intoxication had neither influence on concentrations of vitamin E and selenium-dependent glutathione peroxidase in plasma and different organs nor on contents of fatty acids in skeletal muscles. No signs of increased lipid peroxidation in muscle tissue could be found. Prophylactic application of vitamin E or selenium one day before administration of salinomycin as well as treatment on the following days produced no protective effects. The treated pigs showed equal clinical and pathomorphological alterations as the untreated animals, although applications caused a significant increase of alpha-tocopherol and glutathione peroxidase concentrations in blood and different organs.
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PMID:[The effect of treatment with vitamin E or selenium on the course of salinomycin poisoning in swine]. 820 64


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