Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Angiograms of 12 patients with typical Friedreich's ataxia were analyzed. The results corroborate previous reports and justify the conclusion that the cardiomyopathy is of the hypertrophic type. In 10 of 12 cases, the hypertrophy is concentric, and non obstructive. Less frequently (2 cases), this hypertrophy is accompanied by diffuse hypokinesis and depressed ejection fraction.
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PMID:Cardiac angiographic findings in Friedreich's ataxia. 100 Apr 19

Pulmonary function tests were carried out on 20 patients with Friedreich's ataxia. The lung volume, diffusing capacity, flow rate, flow-volume curve, and blood gases were measured. In each patient the degree of scoliosis was measured and the pulmonary function tests were analyzed in relation to the scoliosis. A control group of 13 subjects with idiopathic scoliosis was used for comparison. In both groups, the degree of scoliosis was similar.
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PMID:Pulmonary function studies in Friedreich's ataxia. 100 Apr 20

All clinical laboratory tests carried out in 4 groups of patients with the diagnosis of typical or atypical Friedreich's ataxia have been found to be within the normal range. In this prospective study of 50 patients, a number of findings previously reported to be abnormal in the literature, have not been confirmed.
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PMID:Clinical laboratory findings in Friedreich's ataxia. 100 Apr 21

Our prospective survey of 50 ataxic patients confirms the previous finding of frequent clinical or chemical diabetes in Friedreich's ataxia. Eighteen percent of our typical cases have clinical diabetes and 40% at least an abnormal glucose tolerance curve. However, this finding does not appear to be specific to that form of ataxia. Furthermore, we have shown that most patients with ataxia have normal or low fasting insulin levels, but a hyperinsulinic response to a glucose load.
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PMID:Glucose and insulin metabolism in Friedreich's ataxia. 100 Apr 22

In our studies, high total bilirubin values in the plasma were noted in cases of Friedreich's ataxia. A bimodal distribution of the values indicated the possible presence of two subgroups of patients. In these kindred, we demonstrated an elevation in unconjugated bilirubin with features similar to those reported in Gilbert's syndrome: normal liver function tests, elevation after fasting and day to day variability. We also report preliminary experiments indicating that bilirubin levels may be taurine dependent. We postulate that the defect could be a secondary component of the ataxic disease, possibly indicating a defect in membrane transport.
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PMID:Bilirubin metabolism - preliminary investigation. 100 Apr 23

A study of amino acids determined by sequential Multi-sample Amino Acid Automatic Analyzer in plasma, urine and cerebrospinal fluid (CSF) in patients with Friedreich's ataxia and control subjects has revealed a number of mathematically significant variations from normal. Of practical physiological importance are the following: a high urinary excretion of alanine with slightly elevated plasma levels; a low plasma and CSF concentration of aspartic acid in the presence of normal urinary values and finally a low CSF concentration of taurine accompanied by normal plasma levels, but elevated urinary output and renal clearance rates. We postulate that the modifications in alanine and aspartic acid are less specific and probably secondary, but there could be a genetic defect in the membrane transport of taurine and the other beta-amino acids in Friedreich's ataxia.
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PMID:Amino acid metabolism in Friedreich's ataxia. 100 Apr 24

Friedreich's ataxia patients show evidence of an abnormally elevated and prolonged response of pyruvate and lactate to a glucose load, with normal fasting levels. However, ther is a bimodal distribution of this response with high and low pyruvate responders. This trait appears to be determined genetically, However, although in vivo tests suggest low oxidation of pyruvate, we were unable to confirm any in vitro impairment of each of the components of the pyruvate dehydrogenase (PDH) complex. We conclude that the defect is in the metabolic regulation of PDH, probably at the E3 (lipoamide dehydrogenase) step.
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PMID:Pyruvate metabolism in Friedreich's ataxia. 100 Apr 25

The prospective investigation of 50 cases of possible Friedreich's ataxia has permitted the clinical and biochemical celineation of the typical disease and an hypothesis on its pathogenesis. A tentative definition of the disorder could read: "Friedreich's ataxia is a progressive degenerative disease always inherited in an autosomal recessive fashion and characterized by a cardiomyopathy and a ganglioneuropathy with dying back phenomenon. It is probably secondary to a defect in the membrane transport of taurine and beta-alanine and/or a defect in the regulation of pyruvate oxidation." The existence of two pathogenetically distinct distinct entities with the same phenotype is a strong possibility.
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PMID:Friedreich's ataxia 1976-an overview. 100 Apr 26

Electrophysiological and pathological studies have been performed on the peripheral nerves of patients with spinocerebellar degenerations. In Friedreich's ataxia there is impairment of sensory conduction and mild slowing of motor conduction which may be correlated with loss of large diameter fibres in the sural nerve. The abnormalities in Friedreich's ataxia are present early, in the first decade. In hereditary spastic paraparesis the nerve conduction studies and sural nerve biopsy are normal. In the other spinocerebellar degeneration and a mild loss of myelinated fibres in the sural nerve. However the abnormalities differ from those seen in Friedreich's ataxia.
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PMID:Electrophysiological and pathological studies in spinocerebellar degenerations. 102 97

The cardiovascular signs and symptoms were recorded in 36 patients with typical Friedreich's Ataxia (Group Ia, Ib). Seventeen patients were asymptomatic and this did not correlate with the severity of the disease. No pathognomonic clinical constellation was found to reveal the underlying cardiomyopathy.
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PMID:Cardiological signs and symptoms in Friedreich's ataxia. 103 82


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