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)

A family had three siblings affected with classic Friedreich's ataxia. One sibling died at age 20 with fulminant diabetic ketoacidosis. The other two affected siblings are identical twin sisters without clinical diabetes but with an abnormality in the metabolism of exogenously administered glucose. These twins also have abnormal hypothalamic-pituitary control of prolactin and possibly of growth-hormone secretion. This study extends the previous reports of endocrine deficienceis associated with Friedreich's ataxia. The mechanisms underlying this association are undetermined but could represent pleiotropic effects of the Friedreich's ataxia gene or secondary manifestations of the primary central nervous system degeneration, or both.
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PMID:Abnormal function of endocrine pancreas and anterior pituitary in Friedreich's ataxia. Studies in a family. 34 4

Oral glucose tolerance, thyroid function tests, as well as thyrotropin, prolactin and growth hormone release after administration of thyrotropin releasing hormone, were evaluated in patients with Friedreich's ataxia and unaffected family members. Impaired glucose tolerance was found in the majority of family members, affected or not. Thyroid hormone levels and PRL and TSH responses to TRH, were similar in all and normal. However, GH responses to TRH were abnormal in half of the patients, but in none of the unaffected family members. Paradoxical responses to neuropeptides may characterize some Friedreich's ataxia patients, and may predict the possibility of therapeutic maneuvers with such peptides in these patients.
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PMID:Pituitary responses to a neuroactive tripeptide (TRH) in Friedreich's ataxia families. 680 4

Homozygotes, obligatory heterozygotes and potential carriers of the Friedreich's Ataxia gene were tested with an oral glucose tolerance in order to assess a. the prevalence of abnormalities in glucose handling, b. the secretory pattern of two "diabetogenic" hormones, growth hormones and prolactin and c. to evaluate the possibility for detection of an abnormal trend in these hormones to be used as a genetic marker. Despite the high prevalence of glucose abnormalities horizontally and vertically in these families, the basal output and responses of these metabolic hormones to a glucose challenge were appropriate and thus not characteristic of any of the above groups.
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PMID:Friedreich's ataxia and oral glucose tolerance: II. The effect of ingested glucose on serum growth hormone in homozygotes, obligate heterozygotes and potential carriers of the Friedreich's ataxia gene. 721 54

Both the decrease of reproductive adaptation and effect of reproductive compensation were revealed in 19 cases of Friedreich's ataxia (FA). Retardation of sexual development was observed, the degree of which correlated with the age of disease manifestation. By means of radioimmunoassay basal and stimulated secretion of hypophysial and peripheral sex hormones were examined in 6 males and 9 females (17-30-years). The gonadal hypofunction was observed as the consequence of hypothalamo-hypophysial insufficiency. The decrease of follicle stimulating hormone and prolactin levels was found. The conclusion was made that pathological process in FA involves hypothalamus that causes in turn insufficiency of norepinephrine and epinephrine hypothalamic neurotransmission.
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PMID:[The function of the hypothalamo-hypophyseal-gonadal system in patients with Friedreich's ataxia]. 928 Dec 74

Vitamin E is one of the most important lipid-soluble antioxidant nutrient. Severe vitamin E deficiency (VED) can have a profound effect on the central nervous system. VED causes ataxia and peripheral neuropathy that resembles Friedreich's ataxia. We report here a patient presenting this syndrome, but also a prolactin and FSH adenoma. Both the neurological syndromes and the adenoma regressed after treatment with alpha-tocopherol. Although, the presence of the prolactinoma in this patient may not be related to his vitamin E deficiency, alpha-tocopherol treatment seems to be beneficial and might usefully be tested in patients with hypophyseal secreting other forms of adenoma.
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PMID:Vitamin E deficiency ataxia associated with adenoma. 1006 78