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

The neuropathological findings in two siblings with Menkes' disease were compared with representative material obtained from lambs suffering from swayback (enzootic ataxia). The aim of the study was to demonstrate the similarity of lesions in a genetic and a nutritional form of copper deficiency in support of the view that all lesions in Menkes' disease could be ascribed to simple hypocupraemia. All lesions of Menkes' disease were shown to have their counterpart in swayback, with exception of the abnormal arborisations of the Purkinje cell dendrites. These have often been interpreted as malformations and cited in evidence of the prenatal origin of the cerebral lesions. They are, however, non-specific and similar lesions have been reported in conditions arising in later life. While there is abundant collateral evidence of disturbed copper metabolism in utero, the problem of the prenatal versus postnatal origin of cerebral damage remains unresolved.
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PMID:Menkes' disease and swayback. A comparative study of two copper deficiency syndromes. 666 80

A spontaneous neurologic disease occurred in six 5 weeks old Yorkshire pigs of both sexes from four litters sired by one boar. Clinically, the disease was characterized initially by bilateral posterior ataxia and weakness which rapidly progressed to tetraplegia by 10 weeks of age. By light microscopy, there was bilateral neuronal chromatolysis, degeneration and loss restricted to motor nuclei in the ventral horns of the spinal cord, in the medulla oblongata and midbrain. In addition to diffuse Wallerian-type degeneration in the spinal cord white matter and ventral peripheral nerve roots, there was prominent neurogenic atrophy of skeletal muscle. Ultrastructurally, the perikaryon and processes of affected neurons contained massive accumulations of single 10 nm diameter neurofilaments. Copper concentrations of both the commercially prepared ration and the livers were within normal limits.
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PMID:Spontaneous lower motor neuron disease with neurofibrillary accumulation in young pigs. 668 55

The mean (+/- sd) liver copper level of 186 red deer (Cervus elaphus) (87 stags and 99 hinds) on the island of Rhum was 51.26 +/- 44.1 ppm dry matter. The level found in the south-east part of the island was significantly higher than elsewhere in hinds, but not in stags. Levels below 20 ppm dry matter, comparable to those found in cases of enzootic ataxia in deer parks, occurred in 18 stags and 20 hinds. Since enzootic ataxia has never been observed on Rhum, it is deduced that low copper status is not of itself the causal factor in that disease. No significant correlation was found between liver copper levels and stocking rate, age, carcase weight, antler weight, antler specific gravity, hind fertility, natural mortality or transferrin phenotype. It is concluded that above a low but perhaps critical level, the copper status of red deer merely reflects the dietary intake of that element.
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PMID:Copper status of red deer on the island of Rhum. 732 61

Clinical and pathological findings from instances of ataxia in a group of wildebeeste (Connochaetes taurinus), two llamas (Llama glama) and one Arabian camel (Camelus dromedarius) are presented. Clinically, all the affected animals showed a non-febrile, progressive ataxia. Neuropathologically, Wallerian degeneration was diffuse in the spinal cord of the camel and llamas but was focal in the wildebeeste. Degeneration was present in the cervical dorsal roots in the wildebeeste and in the ventral nerve roots at all levels of the cord in the llamas. Peripheral nerve were affected in all the species. The possible roles of copper deficiency and plant poisons in the aetiology of the condition are discussed.
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PMID:Ataxia and spinal cord degeneration in llama, wildebeeste and camel. 743 34

Seventy-three fattening calves ranging from 6 to 15 months old on a farm were affected by ataxia over a period of four months. About 10 ataxic animals recovered after the administration of various kinds of vitamins and needle puncture therapy. The principal lesions in 14 ataxic animals examined were characterized by bilateral vacuolation with axonal degeneration confined to the spinal white matter. Ultrastructurally, the vacuoles were present in the periaxonal areas and bounded by dissociated myelin lamellae. No pathogen was isolated from the visceral organs of the animals. The serum copper remained within the normal range. Possible etiological factors remain unknown in the ataxic disease.
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PMID:Leukomyelopathy in ataxic calves. 775 17

The startling morphological abnormalities of sideroblastic anaemia contrasts our uncertainty about its cause. Studies are hampered by the fact that the abnormality resides in the dividing and differentiating erythroblast which is difficult to obtain pure and in large numbers, and in which many levels of metabolic control must coexist. Recent molecular biology approaches have confirmed abnormalities of erythroid delta-aminolaevulinic acid synthase as the cause of X-linked, pyridoxine-responsive sideroblastic anaemia and mitochondrial DNA deletions as the most common cause of congenital macrocytic sideroblastic anaemia. They have also identified a second X-linked sideroblastic anaemia locus linked to phosphoglycerate kinase and associated with ataxia. An association between sideroblastic anaemia and the use of an oral copper chelating agent has highlighted unexplained links between erythroid copper and iron metabolism. Management decisions in relation to pyridoxine treatment, iron reduction, family studies, genetic counselling and antenatal diagnosis have in recent years become of practical relevance to families with known cases of congenital sideroblastic anaemia and careful documentation of the clinical outcome of these cases and of other family members is invaluable. Parallel and integrated studies on the molecular biology of erythroid differentiation are revealing the range of possible controlling influences on erythroblasts and defining the circumstances for each, allowing studies on the cause of the most prevalent form of sideroblastic anaemia (the idiopathic acquired form) and those inherited forms that are not X-linked to be approached with a much clearer perspective.
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PMID:Sideroblastic anaemia. 788 Nov 57

Patients with mevalonate kinase deficiency suffer from psychomotor retardation, ataxia with progredient cerebellar atrophy, and myopathy. The pathophysiology of the disease remains unclear. The mevalonate kinase product, cholesterol, is within the normal range in patient plasma and fibroblasts. In search of the pathophysiology of this disorder, another mevalonate kinase product, ubiquinone-10, was studied. The concentrations of ubiquinone-10 in patient plasma (n = 6) and ubiquinol-10 in patient LDL (n = 2) and the synthesis of ubiquinone-10 in patient fibroblasts (n = 4) were determined. After oxidative modification of LDL by copper in vitro, the concentrations of alpha-tocopherol and polyunsaturated fatty acids in LDL and the relative electrophoretic mobility of LDL were measured to determine the antioxidant capacity of LDL samples of two affected siblings. The ubiquinone-10 concentrations in plasma samples (median = 508 micrograms/L, range = 488-642 micrograms/L) versus controls (median = 613 micrograms/L, range = 564-809 micrograms/L; p < 0.005) were decreased. In LDL samples of two affected siblings, the concentration of ubiquinol-10 and the resistance to oxidation in vitro were found decreased during intercurrent patient crisis condition. In patient fibroblasts (median = 533 dpm/mg protein, range = 399-1,047 dpm/mg protein) versus controls (median = 40,731 dpm/mg protein, range = 12,774-54,739 dpm/mg protein), the synthesis of ubiquinone was found to be decreased. We conclude that mevalonate kinase deficiency leads to a decreased synthesis of ubiquinone-10 and that ubiquinone-10 deficiency is responsible for the clinical progression of this disease characterized by increased lipid peroxidation, cerebellar atrophy, cataract development, and myopathy with increased creatine kinase activity.
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PMID:Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency. 823 12

A case of familial juvenile parkinsonism with dementia, orthostatic hypotension, neurogenic bladder and constipation was reported. He had been in a good health until the age of 28 when a finger tremor occurred on effort to hold hands in a definite position, and disturbances in gait and speech were noted. These symptoms were relieved by levodopa treatment followed by dyskinesia and motor fluctuations. Three years later, he complained of faintness, constipation and urinary frequency. The neurological examination revealed mentally sound male with masked face, tremor and rigidity in his extremities, and short step gait with lateropulsion. Urodynamic study showed uninhibited bladder. In the following years, orthostatic hypotension, dysuria and urinary retention developed gradually. He became mentally loose and was unable to take medicines appropriately. When in the Nishiojiya Byoin National Sanatorium, he tried to snake out the hospital many times. His parents and a brother suffered from Parkinson's disease and juvenile parkinsonism, respectively, suggesting an autosomal dominant inheritance. On admission to our hospital, he was apathetic. He had masked face, bilateral postural tremor, frozen gait and dyskinesia in the right lower extremity. Little bradykinesia or rigidity was noted. His muscle tone and deep tendon reflexes were decreased but neither muscular wasting, weakness, ataxia nor sensory disturbance was observed. Laboratory data including ceruloplasmin, copper, dopamine-beta-hydroxylase and lysosomal enzyme activities were normal except for mild anemia. A cranial CT scan revealed mild cortical atrophy in the frontal and temporal lobes, but nerve conduction study and cortical evoked potentials showed no abnormality. While in the hospital, his mental functions deteriorated to the state of dementia and orthostatic hypotension became apparent.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Familial juvenile parkinsonism with dementia and autonomic failure--a case report]. 833 79

Many of the nervous and muscular locomotor disorders that affect sheep throughout Australia are commonly referred to as "staggers" syndromes. The range of clinical signs displayed by sheep suffering these disorders is sufficiently diverse to enable each syndrome to be graded into one of 5 progressive clinical groups. The first group, the limb paresis syndromes, includes the primary myopathies associated with the ingestion of Ixiolaena brevicompta, Malva parviflora, and Trachymene ochracea, as well as selenium and Vitamin E disorders, Paroo virus staggers, congenital progressive muscular dystrophy, humpy back, hypocalcaemic muscle weakness, Tribulus terrestris staggers and tetanus. The second group is characterised by limb paresis with knuckling of the fetlocks, and includes the plant-associated toxicities of Romulea rosea, Stachys arvensis, Trachyandra divaricata, and Tribulus micrococcus, together with haloxon toxicity, enzootic ataxia (copper deficiency), and the probably genetic disorders of segmental axonopathy, neuroaxonal dystrophy, and degenerative thoracic myelopathy. Other locomotor disorders that fit more loosely into this group are listerial myelitis (post-dipping staggers), vitamin A deficiency, cervico-thoracic vertebral subluxation Stypandra glauca toxicity, Ipomoea spp toxicity, ivermectin toxicity, and botulism. The third group, the falling syndromes, includes the probably genetic disorders of thalamic cerebellar neuropathy, cerebellar abiotrophy, and globoid cell leucodystrophy, together with Swainsona spp toxicity. The fourth group, the falling syndromes, includes the plant associated toxicities of phalaris staggers, perennial rye grass staggers and nervous ergotism (Claviceps paspali).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The clinical differentiation of nervous and muscular locomotor disorders of sheep in Australia. 852 19

The purpose of this study is to describe a developmental defect of the caudal cervical and cranial thoracic vertebrae in 11 purebred Colombia lambs. The lambs were either affected at birth, or developed the condition within the first 18 days of age. Cervicothoracic kyphosis, with a compensatory cervical lordosis and ataxia were common; 8 lambs had abnormal head posture, characterized by inability to lift the head from the ground. One lamb had rigid head and neck, and had to move the entire body to look to the left or right. Neurological signs included ataxia, tetraparesis, diminished conscious proprioception, and increased patellar and triceps reflexes. One lamb had inspiratory stridor because of compression of the trachea in the area overlying the abnormal vertebrae (cervical vertebrae 6 [C6] and 7 [C7]). Radiographic and pathological abnormalities included malalignment and malarticulation of the caudal cervical and cranial thoracic spine, rounded cranioventral margins in the bodies of vertebrae C7 and T1, wedging of the intervertebral disc spaces between C6 and T1 vertebrae, and hypoplasia of the dens. Pathological changes in the soft tissues included hypoplasia of the cervical epaxial and hypaxial musculature, with associated focal areas of myodegeneration. Mild Wallerian axonal degeneration, compatible with a mild cord compression syndrome, was found in 3 lambs in the cervicothoracic spinal cord adjacent to the vertebral anomalies. The concentrations of copper and selenium in blood, plasma, or tissues were normal in 10 of 11 lambs. All but one of the lambs in which pedigree information was provided were genetically related. Siblings born as twins to 5 of the affected lambs were normal, but both lambs from one twin pregnancy were affected. Owners reported that breeding stock had been shared among the ranches. Because of the close familial relationships of the affected lambs, the condition is suspected to have a hereditary basis.
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PMID:Cervical and thoracic vertebral malformation ("weak neck") in Colombia lambs. 855 86


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