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)

Friedreich ataxia, a progressive neurodegenerative disorder, is an autosomal recessive disease with a carrier frequency of 1/110 in the United Kingdom. The pathophysiological basis for the disease is not known and the chromosomal location of the mutation remains unidentified. As part of an attempt to map the mutation using linked DNA markers, we demonstrate that the Friedreich ataxia gene is excluded from human chromosome 19. This study also demonstrates that the insulin receptor, which maps to chromosome 19 and may be associated with abnormal biochemical features in some patients, is not the basic defect.
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PMID:Exclusion of the Friedreich ataxia gene from chromosome 19. 347 47

Friedreich's ataxia is associated with a high incidence of diabetes mellitus. We have previously demonstrated that insulin resistance is present in nondiabetic patients with Friedreich's ataxia. This was associated with a reduction in the affinity of insulin receptors on freshly isolated monocytes. In this study we investigated the ability of the monocyte insulin receptor to acutely alter its affinity in response to oral glucose. Glucose and insulin concentrations were higher in the patients with Friedreich's ataxia after an oral glucose load, consistent with the presence of insulin resistance. The normal increase in the affinity of insulin receptors on monocytes 5 h after oral glucose was absent in the five patients with Friedreich's ataxia. Receptor affinity actually decreased in three of the five patients. These findings support the concept that a membrane abnormality that alters the binding function of the insulin receptor is present in these patients.
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PMID:Evidence for abnormal regulation of insulin receptors in Friedreich's ataxia. 842 Nov 4

A 48-year-old man, a known case of Friedreich's ataxia (FRDA) underwent cardiac fluorodeoxyglucose (FDG) positron emission tomography -computed tomography (PET/CT) for evaluation of myocardial viability. Tetrofosmin images showed an enlarged left ventricular cavity with small mid and basal inferior and apical infarct global hypokinesia with ejection fraction of 39%. Fluorodeoxyglucose images showed poor quality myocardial images. Friedreich's ataxia is associated with a high incidence of diabetes mellitus. Non-diabetic patients with Friedreich's ataxia have insulin resistance. This is associated with a reduction in the affinity of insulin receptors and membrane abnormality that alters the binding function of the insulin receptor.
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PMID:Poor fluorodeoxyglucose uptake in myocardial viability study in nondiabetic Friedreich's ataxia patient. 2540 Mar 70