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

Thyrotropin-releasing hormone (TRH) has been reported to improve the clinical picture of patients with the predominantly cerebellar form of spinocerebellar degeneration. The authors performed a double-blind, double cross-over, four-month trial, where TRH, at the daily dose of 2 and 4 mg, and placebo were given intramuscularly over a period of one month each. Sixteen patients with Friedreich's disease and 14 patients with different forms of spinocerebellar degeneration completed the trial. Features of cerebellar involvement, such as dysarthria, dysmetria and stance ataxia, showed a slight but significant improvement during TRH treatment. TRH was well tolerated. Transient nausea was the most frequent side-effect.
 ...
PMID:[Chronic experimentation with TRH administered intramuscularly in spinocerebellar degeneration. Double-blind cross-over study in 30 subjects]. 250 70

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.
 ...
PMID:Friedreich's ataxia with dysautonomia and labile hypertension. 670 98

Four patients with Friedreich's ataxia took part in an open trial, in which they consumed 50-100g/day lecithin granules (containing approximately 22% phosphatidycholine) for 16 weeks, but no improvement resulted. Several unwanted effects including diarrhoea, nausea, depression, "hot flushes" and weakness were experienced. Resting levels of free-choline in plasma were within the range found in 19 normal subjects. Sixteen other patients with Friedreich's ataxia also had normal free-choline levels. Treatment with lecithin significantly increased plasma free-choline levels, but there was a trend for these to fall towards baseline levels, despite continued ingestion of lecithin.
 ...
PMID:Effect of lecithin on disability and plasma free-choline levels in Friedreich's ataxia. 742 Jan 7