Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

A new syndrome in two siblings with primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus is presented. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon and insulin all working through cell membrane receptors were elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients.
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PMID:Primordial birdheaded nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter and primary gonadal insufficiency. A new syndrome. 266 2

Of more than 500 diseases or syndromes studied for HL-A markers, more than 40 are known to be associated with an allele of class I, II, or III. Seven are linked to the HL-A region: six are recessive (idiopathic hemochromatosis, C2, C4A, and C4B deficiencies, congenital and late-onset deficiencies) and one is dominant (spinocerebellar ataxia). In addition, insulin-dependent diabetes mellitus is also linked to HL-A with more than one single locus. HL-A typing is of practical interest for diagnosis of ankylosing spondylitis by B27 antigen determination and for prevention of idiopathic hemochromatosis by genotyping of siblings of the index case. Prenatal diagnosis of 21-OH deficiency by genotyping fetal cells permits genetic counseling. Indeed, the discovery of the relationship between HL-A and disease can be considered a new approach to medical genetics. Extensive use of HL-A technology will probably allow better prediction of risk and may elucidate the mechanisms of certain diseases. For the first time the study of one single immunogenetic system may have a significant effect on public health through the possibility of wide-scale prevention.
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PMID:HL-A and disease. 300 51

The effect of i.v. administration of ionophores on metabolism in ruminants was investigated in two experiments. In Exp. 1, four Angus heifers were assigned randomly to receive i.v. monensin (18 mg, n = 2) or vehicle (control, n = 2). Samples were collected from indwelling vena cava cannulas from -60 to 240 min. Concentrations of K, Mg (P less than .05) and P (P less than .10) were lower and glucose (GLU) and free fatty acids (FFA) were higher (P less than .05) in monensin-treated than in control heifers. Serum insulin (INS) initially declined and subsequently increased (P less than .05) following monensin administration. A second experiment was conducted to determine the effect of a higher dose of monensin and the effect of lasalocid on minerals and metabolites. Angus (n = 3) and Hereford (n = 3) steers were randomly assigned to treatments in two 3 x 3 latin square designs. Treatments were i.v. administration of monensin, lasalocid or vehicle (ethanol) administered on three consecutive days. Administration of monensin, but not vehicle or lasalocid, resulted in ataxia, hypernea, polyuria and anorexia for approximately 2 h. Plasma concentrations of K, P and Mg were suppressed (P less than .05) by monensin, but not by vehicle or lasalocid administration. The decrease in K was preceded by a transient increase in K 15 min after administering monensin. Concentrations of GLU and FFA increased (P less than .05) following monensin administration. Concentrations of INS were lower from 60 to 120 min and greater at 180 and 240 min compared with -60 to 0 min from monensin administration (P less than .05). These results provide first evidence of an effect of monensin on metabolism in ruminants independent of alterations in ruminal microbial metabolism.
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PMID:Intravenous administration of ionophores in ruminants: effects on metabolism independent of the rumen. 304 32

The currently recognized toxic effects of quinine in humans are identified and the problems of management of overdosage of quinine are discussed. Quinine, available therapeutically as sulphate or hydrochloride salts, also is widely used in tonic water, and there are several case reports of allergic reactions to the drug when a patient has consumed the drug in this way. Another unintentional source of poisoning is its use as an adulterant in heroin for "street" use. This appears to be a problem in the US. Quinine, termed a "general protoplasmic poison" is toxic to many bacteria, yeasts, and trypanosomes, as well as to malarial plasmodia. Quinine has local anesthetic action but also is an irritant. The irritant effects may be responsible in part for the nausea associated with its clinical use. In addition it has a mild antipyretic effect. Several features are common to both an acute single overdose in self-poisoning and accumulation of quinine during therapy for malaria: together they are termed cinchonism. Auditory symptoms, gastrointestinal disturbances, vasodilatation, sweating, and headache occur with moderately elevated plasma quinine concentration. As these rise, increasingly severe visual disturbances and then cardiac and neurologic features occur. Mild nausea may be the only symptom, but with large overdoses profuse vomiting, abdominal pain, and diarrhea may occur. These result from a combination of the local irritant effect of quinine on the gut and the central effects of quinine on the chemoreceptor trigger zone. Vasodilatation and sweating are well recognized, and tinnitus is common. Visual symptoms usually are delayed, and blindness may not be discovered for a day or more. Aspirin-sensitive patients, and others, may develop angioedema by nonimmunological mechanisms in response to drugs, and quinine has been reported to produce pseudo-allergic reactions in aspirin-sensitive patients. Quinine also can cause drug-induced thrombocytopenia and purpura. In patients suffering with malaria due to "Plasmodium falciparum," anemia and acute intravascular hemolysis with renal failure are recognized complications. There appears to be little evidence in the literature in support of the folk tradition of quinine as an inducer of abortion. Quinine is known to cause deterioration in patients with myasthenia gravis and erythema multiforme, to stimulate insulin release in patients receiving treatment for falicparum malaria, and to be responsible at times for ataxia following moderate overdosage. Clinically, quinine poisoning is observed in 3 situations: self-poisoning; accidentally; and following use of quinine in excessive doses in the hope of achieving abortion. Treatment courses are reviewed.
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PMID:Quinine toxicity. 354 70

Neurological involvement occurred in every one of a series of 30 patients with an insulinoma. The episodic nature of the hypoglycaemia caused symptoms and signs to fluctuate and often led to delay in diagnosis (mean length of history was 3 years). The commonest feature at first presentation was confusion (20 instances), but as the illness evolved, coma (16 instances) and convulsions (8 instances) became more frequent. Objective weakness was found in 7 patients, with 3 examples of hemiparesis and 2 each of paraparesis and monoparesis; in all, the weakness resolved over a period of 1 hr to 3 days when normoglycaemia was maintained. Other neurological features included subjective visual disturbances, headache, dysarthria and ataxia. 220 patients with an insulinoma from 7 series in the literature were reviewed. The high incidence of neurological features was confirmed, with confusion (152 cases), coma (82 cases) and convulsions (58 cases) predominating. Visual disturbances were common, though not accurately quantified in some series. Objective evidence of weakness on the other hand was reported in only 6 of the 222 patients. Other less common symptoms included headache (18 instances) and peripheral paraesthesiae (14 instances). In the 7 series reviewed, as in our own, it was found that in any one patient, each episode of hypoglycaemia was accompanied by the same symptom complex. The presence of an insulinoma should be considered in any patient with unusual, or inexplicable neurological features, particularly when they are intermittent. The diagnosis can be confirmed by demonstrating an inappropriately high circulating insulin level, for the ambient blood glucose concentration.
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PMID:Neurological aspects of insulinomas. 609 Oct 78

A ferret with clinical and laboratory signs of hypoglycemia was found at surgery to have a beta cell tumor of the pancreas. There had been recurrent episodes of weakness, ataxia, dehydration, and hypothermia. A fasting blood glucose content was 43 mg/dl and the amended insulin/glucose ratio was 362.5. The tumor was removed, yet hypoglycemia persisted postoperatively. Clinical signs related to hypoglycemia did not recur following application of medical treatment and frequent feedings. The histologic appearance of the tumor closely resembles that which has been seen in other species.
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PMID:Pancreatic beta cell tumor in a ferret. 609 38

The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, ataxia, primary hypogonadism and autosomal recessive transmission. In a sibship of six members we found two sisters with RRS together with baldness, impaired GH and PRL secretion after stimulation and different degrees of impaired insulin secretion. Cochleovestibular investigation of the sibship revealed in each subject more or less severe forms of bulbo-pontine cochleovestibular dysfunction. Three members of the same sibship had cutaneous signs of abortive forms of neurofibromatosis: the son of one of these subjects had a severe form of fully developed neurofibromatosis. Whether there is a pathogenetic linkage between the hereditary multisystemic degeneration (RRS), the dysembryopathy (neurofibromatosis) and the cochleovestibular dysfunction in this family is still not clear.
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PMID:Richards-Rundle syndrome, cochleovestibular dysfunction and neurofibromatosis in a family. 642 60

We report a patient with mitochondrial encephalomyopathy presenting parkinsonism, as well as her brother who had ataxia but not parkinsonism. Both patients had myopathy, deafness, and insulin-dependent diabetes mellitus. The proband was a 55-year-old woman, who has developed progressive difficulty in walking and slowness of movement since 53 years of age, becoming bed-ridden at 55. Neurological examination revealed mental impairment, a masked face, Myerson's sign, vertical supranuclear ophthalmoplegia, and severe sensorineural deafness, hypokinesia, rigidospasticity, and weakness of the extremities. But tremor and cerebellar ataxia were absent. Her 48-year-old brother gradually developed weakness of the lower extremities and drunken gait over a few years. On neurologic examination, vertical supranuclear ophthalmoplegia, moderate sensorineural deafness, and cerebellar ataxia were present, but parkinsonism was absent. Three other siblings were reported to have died in early childhood. Cranial MR imaging showed cerebral atrophy and mild atrophy of the cerebellar vermis as well as mild periventricular hyperintensities in T2-weighted images in both patients. However, no infarcts were seen. Laboratory investigations revealed slightly elevated lactate and pyruvate levels in the proband and elevation of pyruvate in her brother. A biopsy specimen obtained from the quadriceps muscle showed ragged-red fibers with modified Gomori trichrome staining, and a decrease of complex I+III and complex II+III activity in the proband. Mitochondrial DNA (mtDNA) analysis using the polymerase chain reaction and restriction enzyme Apa I showed a point mutation in the tRNA(Leu)(UUR)) gene (an A to G transition at nucleotide 3243) in both patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Mitochondrial encephalomyopathy associated with parkinsonism and a point mutation in the mitochondrial tRNA(Leu)(UUR)) gene]. 802 31

The case of an 18-year-old woman with Wernicke's encephalopathy induced by hyperemesis gravidarum is reported. She had severe vomiting and received antiemetic therapy and intravenous administration of glucose and low-dose insulin solution without thiamine. She developed coma, nystagmus, ataxia and polyneuropathy. CT and MR imaging showed bilateral caudate lesions as well as symmetrical periventricular lesions of the thalamus and hypothalamus and periaqueductal gray matter. Caudate lesions are quite rare in Wernicke's encephalopathy.
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PMID:Wernicke's encephalopathy induced by hyperemesis gravidarum, associated with bilateral caudate lesions on computed tomography and magnetic resonance imaging. 803 46


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