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)

16 patients of the Medical ambulatory at the University of Basel born between 1940 and 1945 were explored with the State-Trait Anxiety Inventory (STAI) of Spielberger for the presence of anxiety. With this self-rating inventory state anxiety as well as general trait anxiety can be recognized. The examined group was not selected on specific diagnoses. Two patients with a heavy organic disease (Aids, Friedreich's ataxia) showed an increased state anxiety and an increased general trait anxiety. Six patients with hypertension showed decreased, average as well as increased values of state anxiety and general trait anxiety. In one patient with epilepsia decreased general trait anxiety and average state anxiety were manifest. A patient with a depressive neurosis and functional abdominal pain showed increased general trait anxiety and average state anxiety. Finally, in six patients with different diseases, such as patients with different diseases, such as bronchitis, diabetes, coronary and congestive heart disease, obesity and myalgias, no deviation of their state and general trait anxiety values was evident when compared with standard values. The results are discussed.
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PMID:[The assessment of anxiety in somatic patients--a pilot study]. 291 53

An Amerindian girl with Friedreich's ataxia presented at the age of 14 years with intermittent bifrontal headaches and abdominal aching, often associated with nausea and recurrent vomiting and an evanescent pink, blotchy rash on the upper trunk. In these attacks she also had hypertension up to 210/160 mm Hg. Renal function studies, including intravenous pyelogram and angiography, were normal. Plasma renin activity (2.5 ng/ml/hr) was also normal. Total body CT scan was negative for phaeochromocytoma, and repeated estimations of 24-hour excretion of urinary VMA were normal or borderline high. Levels of total catecholamines in 24-hour urine were normal twice, but two random specimens during the paroxysmal episodes contained abnormally high levels of norepinephrine and dopamine. Plasma catecholamine concentrations were increased but not as high as with phaeochromocytoma. Blood pressure monitoring demonstrated marked fluctuations with position and temperature. A clonidine suppression test showed a substantial fall of plasma catecholamine levels, consistent with dysautonomia and not with phaeochromocytoma. It is concluded that the patient has dysautonomia of central origin, probably as a manifestation of Friedreich's ataxia. These findings are discussed in relation to the recent demonstration of increased levels of plasma catecholamines in that disease.
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PMID:Friedreich's ataxia with dysautonomia and labile hypertension. 670 98

1. Hypertensive cardiac hypertrophy is a major independent predictor of adverse cardiovascular events. In man the cardiac response to increased afterload is very variable, even when ambulatory blood pressure monitoring is used. Analysis of breeding experiments using normotensive and hypertensive rat strains, human twin studies and other data indicate that genetic factors play a significant role in regulating cardiac mass; in other words, a large component of total variability is accounted for by genetic variance. 2. The observation that some patients with only mild-to-moderate hypertension exhibit gross left ventricular hypertrophy (LVH) similar to the inherited hypertrophic cardiomyopathies such as familial hypertrophic cardiomyopathy (FHC) and Friedreich's ataxia (FA) has prompted us to investigate the hypothesis that genetic factors associated with excessive myocardial hypertrophy, viz. mutations in FHC and FA genes alter the hypertrophic response of the heart to pressure overload. Here we review briefly three lines of study: (i) association analysis to test whether the allele frequencies differ in hypertensive patients with or without left ventricular hypertrophy; (ii) characterization of the cardiac manifestations of FA to understand the mechanism by which the heart is affected in a disease associated with pathology in a subgroup of neurons, and (iii) creation of transgenic models to facilitate the investigation of the interaction between hypertrophic stimuli and underlying genetic predisposition. 3. Information on the nature of the cardiac-mass-modifying genes involved may be useful not only for selecting high risk patients in strategies aimed at preventing the development of LVH, but also in opening new avenues of research on the reprogramming of cardiac myocytes to encourage them to hypertrophy in situations where cardiac muscle has been damaged or is hypoplastic.
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PMID:Hypertensive cardiac hypertrophy--is genetic variance the missing link? 880 51

The year 2000 was rich in events, either spectacular news or confirmed improvement of on-going advances, as far as paediatric cardiology is concerned. The selection presented by the authors includes the first percutaneous implantation in a human being of a biological (bovine) valve which was sewn on a stent, compressed into a catheter and inserted against a stenotic and leaking procine bioprosthesis in a right-ventricle to pulmonary-artery conduit. This may be a new way to further valve replacements as alternatives to surgery. Balloon dilation of late postoperative recoarctations is now also improved with the use of stents able to maintain the result and to avoid traumatic injuries, with new coaxial double balloons making the procedure easier and safer. This is probably one of the main elements in reducing this very particular form of hypertension, the anatomic cause of which is often difficult to understand. As for yesterday's daring innovations now becoming near-routine protocols, two examples are developed. First, the rehabilitation of pulmonary arteries in pulmonary atresia with ventricular septal defect and complex pulmonary blood supply, both by true pulmonary vessels and by collaterals, both being stenotic and/or hypoplastic, anastomosed or not. The anatomic and functional details of such a vascular setting should be accurately understood and treated by early and aggressive surgery and interventional procedures in order to promote antegrade flow, distal angiogenesis, and, finally, active and harmonious vascular growth compatible with complete repair. The second example is Friedreich's ataxia in which, within 3 years of the discovery of the pathogenic mechanism, the deficiency in frataxin and its intra-cellular toxic consequences have been demonstrated, leading to a logical medical therapy which proves to be effective in treating (and maybe in preventing) the severe hypertrophic cardiomyopathy associated to this disease.
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PMID:[The best in 2000 on pediatric cardiology]. 1126 Aug 39

Echocardiography has a leading role in the routine assessment and diagnosis of hypertrophic ventricles. However, the use of M-mode echocardiography and measurement of global left ventricular function may be misleading. Traditionally, systolic function was thought to be preserved in patients with hypertrophic myopathies until the late stages of the disease, and hypertrophic myopathies were thought to affect the myocardium more diffusely than ischemic heart disease. Ultrasound deformation imaging, either by Doppler myocardial imaging or speckle tracking, provides more-sensitive detection of regional myocardial motion and deformation than standard echocardiography. Basic and clinical studies that apply these techniques have revealed early, often subclinical impairment in systolic function. This information allows the detection and treatment of myocardial dysfunction at an early stage, which is of high clinical importance. Physiological hypertrophic remodeling seen in athletes differs from pathological myocardial hypertrophy, which can be caused by compensatory reactive hypertrophy owing to pressure overload in patients with aortic stenosis or hypertension, as well as amyloidosis, Fabry disease or Friedreich ataxia. Each of the etiologies associated with hypertrophy demonstrate distinct regional changes in myocardial deformation, which allows identification of the underlying processes, and will improve the assessment and follow-up of patients with hypertrophic myopathies.
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PMID:The role of echocardiographic deformation imaging in hypertrophic myopathies. 2045 40

Friedreich ataxia (FRDA) is an inherited recessive disorder caused by a deficiency in the mitochondrial protein frataxin. There is currently no effective treatment for FRDA available, especially for neurological deficits. In this study, we tested diazoxide, a drug commonly used as vasodilator in the treatment of acute hypertension, on cellular and animal models of FRDA. We first showed that diazoxide increases frataxin protein levels in FRDA lymphoblastoid cell lines, via the mammalian target of rapamycin (mTOR) pathway. We then explored the potential therapeutic effect of diazoxide in frataxin-deficient transgenic YG8sR mice and we found that prolonged oral administration of 3 mpk/d diazoxide was found to be safe, but produced variable effects concerning efficacy. YG8sR mice showed improved beam walk coordination abilities and footprint stride patterns, but a generally reduced locomotor activity. Moreover, they showed significantly increased frataxin expression, improved aconitase activity, and decreased protein oxidation in cerebellum and brain mitochondrial tissue extracts. Further studies are needed before this drug should be considered for FRDA clinical trials.
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PMID:Effect of diazoxide on Friedreich ataxia models. 2932 32