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)

A 14-year-old boy with ataxia-telangiectasis died of pneumonia, stomach cancer and its diffuse metastasis. The onset of walding gait was noticed from 3 years of age. Immune globulin including IgA was normal or slightly increased. Main autopsy findings were: old cancerous ulcer of 1.4 X 2.3 cm at the lesser curvature, and diffuse cancer infiltration over ulcer surface to serous membrane. The tumor was diagnosed histologically as adenocarcinoma tabulare mucocellulare.
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PMID:Stomach cancer of a 14-year-old boy with ataxia-telangiectasia. 19 57

The serum and cerebrospinal fluid (CSF) of 8 women with ataxia, 6 of whom also had eye movement abnormalities believed to be opsoclonus, were found to contain a highly specific antineuronal antibody we call anti-Ri. Seven of the 8 women also had or developed cancer: carcinoma of the breast in 5, adenocarcinoma in an axillary lymph node in 1, and carcinoma of the fallopian tube in 1. Four patients presented with the neurological disorder; the cancer was diagnosed first in the other 4. Immunohistochemical studies using serum or CSF from all 8 patients revealed a highly specific antibody interaction with central nervous system neuronal nuclei but not with glial or other cells; the titer ranged from 1:5,000 to 1:320,000 in serum and from 1:2,000 to 1:16,000 in CSF. Biotinylated IgG from the patients' serum reacted with the tumors of 3 of 4 patients with anti-Ri antibody but not with breast cancers from patients without anti-Ri antibody. Immunoblots against cerebral cortex neuronal extracts identified protein antigens of 55-kd and 80-kd relative molecular mass. Serum titers by immunoblot ranged from 1:500 to more than 1:40,000 and CSF titers, from 1:10 to 1:2,000. The relative amount of anti-Ri was always higher in CSF than in serum. The antibody was not present in sera from normal individuals; patients with breast cancer without opsoclonus; other patients with opsoclonus; or patients with other paraneoplastic syndromes related to breast, ovarian, or small-cell lung cancer. We conclude that the presence of anti-Ri antibody identifies a subset of patients with paraneoplastic ataxia and eye movement disorders (opsoclonus) who usually suffer from breast or other gynecological cancer; the antibody when present is a useful marker for an underlying malignancy.
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PMID:Anti-Ri: an antibody associated with paraneoplastic opsoclonus and breast cancer. 204 40

Neurologic abnormalities were the predominant historic and physical findings in 5 dogs and 2 cats with primary nasal cavity tumors that had invaded the cranial vault. Seizures, behavior changes, and obtundation were the most common signs. Other neurologic signs included paresis, ataxia, circling, visual deficit, and proprioceptive deficit. Although 1 dog and 2 cats had historic findings of mild respiratory disease, no physical abnormalities related to the respiratory tract were found in any of the 7 animals. Nasal cavity neoplasia was suggested by radiographic and computed tomographic studies and was confirmed histopathologically in each case. The nasal tumor types in the 5 dogs were epidermoid carcinoma (n = 1), adenocarcinoma (n = 2), solid carcinoma (n = 1), and anaplastic chondrosarcoma (n = 1). An esthesioneuroblastoma was found in each cat. Radiation therapy was effective for 3 months in palliating the clinical signs in the 2 dogs in which it was used. Neoplasia of the nasal cavity should be considered in the differential diagnosis for animals with neurologic signs suggestive of cerebral disorders.
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PMID:Neurologic abnormalities as the predominant signs of neoplasia of the nasal cavity in dogs and cats: seven cases (1973-1986). 276 45

We report a case of primary position downbeating nystagmus due to an occult breast carcinoma in a 57-year-old woman with progressive oscillopsia and truncal ataxia. Acute nausea and vomiting precipitated hospitalization. Magnetic resonance imaging of the brain was normal, though a sterile mononuclear cerebrospinal fluid pleocytosis was present. Search for an occult malignancy disclosed an adenocarcinoma of the breast. Radical mastectomy and oral corticosteroid therapy did not alter the clinical course of the paraneoplastic syndrome in our patient. Primary position downbeating nystagmus is an uncommon manifestation of an occult malignancy. Our report and review of the literature suggests that investigations necessary for the diagnosis of occult malignancies of the lung, breast, uterus, and ovary be included in the search for cryptic causes of downbeating nystagmus.
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PMID:Paraneoplastic downbeating nystagmus. A sign of occult malignancy. 285 13

A 66-year-old man with hepatic metastases from gastric adenocarcinoma was treated on two occasions with 5-fluoro-2-deoxyuridine (FUdR) via hepatic artery infusion (HAI). The patient developed neurologic signs and symptoms including disorientation, oculomotor defects, ataxia and multifocal myoclonus during both attempts at HAI. Systemic drug toxicity is unusual when FUdR is given via HAI, and neurologic toxicity has not previously been reported. We postulate individual hypersensitivity to FUdR or selective concentration of FUdR in brainstem structures to explain the toxicity in this case.
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PMID:Neurologic toxicity associated with hepatic artery infusion HAI of FUdR. 294 26

The induction of pathologic changes with hormone steroids has been studied in rodents, although comprehensive studies are lacking on the potential reversibility of these lesions. For these purposes, groups of rats were treated with quingestanol acetate and quinestrol, a progestogen-estrogen combination, for 50 weeks and observed for a subsequent 30-week period. Treatment resulted in a significant body weight gain suppression and reduction of food consumption which recovered after withdrawal. Other significant treatment-related effects were hair loss, ataxia due to pituitary enlargement, mammary chain masses with histologic adenocarcinoma, lens opacities, ovarian atrophy with follicular arrest, and uterine atrophic changes with suppurative inflammation throughout 50 weeks. Cessation of treatment did not effect hair loss or lens opacities, while mammary chain masses decreased in size and in incidence; mammary gland tumors showed regressive changes including the disappearance of adenocarcinoma, and the incidence of ataxia diminished together with reduced pituitary weights. Chromophobe cell hyperplasia with decreased eosinophils and acidophils and hemorrhage into the pituitary was observed up to 50 weeks and the tinctorial affinity of basophils and acidophils returned after withdrawal. Ovaries and uteri, which become atrophic and sustained chronic suppurative inflammation in the treatment phase, showed reduction of inflammatory reaction and disappearance of suppuration after withdrawal, and endometrial regeneration occurred with luteal cells seen in the ovaries. These results revealed the regressive characteristics of some of the mammary gland carcinomas as well as steroid-induced endocrine and pathologic lesions other than tegumentary and ocular changes in rats receiving high levels of steroids for prolonged periods of time.
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PMID:Regression of pathologic changes induced by the long-term administration of contraceptive steroids to rodents. 383 83

Clinicopathological correlations are reported in a case with bilateral isolated infarcts in the posterior part of the parietal lobes, due to nonbacterial thrombotic endocarditis accompanying pancreatic adenocarcinoma. The initial left-sided infarct induced right visual neglect, impairment of right-beating optokinetic nystagmus (OKN), optic ataxia, Gerstmann's syndrome and apraxia. After the right-sided infarct, which occurred six weeks later, bilateral visuo-oculomotor disturbances were observed, including peripheral visual inattention, disorder of visually guided saccades, severe impairment of foveal smooth pursuit and OKN slow phase. The lesion on the left involved the upper part of the angular gyrus and a part of the adjacent superior parietal lobule (SPL). That on the right involved the supramarginal gyrus and extended posteriorly into the superoanterior extremity of the angular gyrus, into both margins of the adjacent intraparietal sulcus and into a small part of the SPL. As the oculomotor deficits and the peripheral visual inattention were bilateral after the second infarct, they probably resulted from the lesion of homologous areas in both cerebral hemispheres. The zone damaged in common included a small part of the SPL, the superoanterior extremity of the angular gyrus, and the adjacent intraparietal sulcus and a small portion of the subcortical white matter. This restricted cerebral zone could therefore, in man, be implicated both in the control of all visually guided eye movements and in visual attention. It is further suggested that two corticofugal pathways are implicated in visually guided saccades, the first arising from the frontal eye fields and projecting directly onto the premotor structures in the brainstem, the second arising from the posterior parietal cortex (probably mainly the intraparietal sulcus adjacent to the angular gyrus) and including a relay in the superior colliculus before reaching the premotor structures. Lastly, the findings support the hypothesis that optic ataxia results from interruption of direct and/or crossed occipitofrontal pathways coursing in the deep white matter of the parietal lobe.
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PMID:Infarcts of both inferior parietal lobules with impairment of visually guided eye movements, peripheral visual inattention and optic ataxia. 394 58

FD-1, 1,3-bis(tetrahydro-2-furanyl)-5-fluorouracil, is an anticancer agent newly developed in Japan and is a kind of marked compound of 5-fluorouracil. FD-1 changes to 3-FT and tegafur and is then converted to 5-fluorouracil. From our clinical observations, FD-1 showed excellent clinical effects in a daily dose of 600 mg. However, in some instances toxicities of central nervous system were developed. On the other hand, there is evidence that uracil enhances antitumor activity of FD-1 in the treatment of sarcoma 180 bearing mice and AH130 bearing rats. On oral administration of FD-1 plus uracil in various combination ratios, the high T/B value (ratio of the concentration of 5-fluorouracil in the tumor and blood) is obtained at a ratio of uracil to tegafur of 20 to 50. Fifteen cases with advanced cancer were treated with UFD-1 (mixture of FD-1 and uracil under molar ratio of 1: 20) in a daily dose of 300 mg of FD-1. However, no tumor regression was observed in any of our cases. On the contrary, toxic manifestations were experienced in five of fifteen cases. They mainly consisted of mild G.I. toxicities. Furthermore, in one case, ataxia developed. Our clinical studies revealed no usefulness of UFD-1 in the treatment of advanced adenocarcinoma cases.
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PMID:[Clinical experiences with UFD-1]. 682 Sep 5

We report a family of 4 siblings from a non-consanguineous marriage, presenting with an early onset recessive cerebellar ataxia and progressive distal limb wasting. Ocular or other telangiectasias were absent. There were neither frequent infections nor immunodeficiencies. The two youngest patients exhibited an incapacitating myoclonus which abated markedly after 20 years. Late onset diabetes was demonstrated in 3 patients. Hypogonadism was not a feature and there was a prolonged survival in the 4 patients. The oldest sibling died of a pancreatic adenocarcinoma. alpha-Fetoprotein was elevated with normal carcinoembryonic antigen values in three patients. Cytogenetic analysis and radioresistant DNA synthesis was compatible with the diagnosis of ataxia-telagiectasia. This family probably represents a rare variant of ataxia-telangiectasia.
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PMID:An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: a probable ataxia telangiectasia variant. 778 63

Paraneoplastic cerebellar degeneration (PCD) is a rare manifestation of cancer, characterized clinically by subacute progressive ataxia, dysarthria and nystagmus. The pathological hallmark of PCD is a severe, diffuse loss of Purkinje cells. PCD occurs most frequently in association with small cell carcinoma of the lung and adenocarcinoma of the ovary, but it has also developed in patients with carcinoma of the breast, malignant lymphoma, and various cancers. Autoantibodies against cerebellar Purkinje cells have been frequently observed in the serum or cerebrospinal fluid (CSF) from patients with PCD. The cause of PCD is unknown, but the presence of these autoantibodies in some patients suggests that the pathogenesis may be immune mediated. The potential role of the autoantibody in the pathogenesis of PCD is discussed.
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PMID:[Paraneoplastic cerebellar degeneration]. 799 1


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