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 2-year-old girl with granulocytopenia developed fever followed by truncal ataxia and progressive neurologic regression. CT demonstrated symmetric low-density areas in the cerebral white matter. Sural nerve biopsy revealed axonal degeneration. Blood lactate levels were high, and serum levels of copper and ceruloplasmin and urinary excretion of copper were low. Cultured skin fibroblasts showed normal copper uptake. Treatment with oral copper administration normalized serum copper and ceruloplasmin levels, blood lactate levels, and granulocyte count. However, copper levels in the CSF were still low, and the patient showed no clinical improvement. We speculated that copper transport across the intestinal wall and across the blood-brain barrier was impaired.
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PMID:Non-Menkes-type copper deficiency with regression, lactic acidosis, and granulocytopenia. 186 16

Side effects of carbamazepine (CBZ), valproate (VPA) and clonazepam (CZP) are rare during long-term use but rather common and usually transient during the early phases of treatment. The usual side effects of CBZ are drowsiness, dizziness, and diplopia, which are dose dependent in long-term use, but CBZ does not seem to cause cognitive disturbances, as do phenobarbital and phenytoin. Other reactions to CBZ may include leukopenia, hyponatremia, disturbances of vitamin D metabolism and fortunately rarely, agranulocytosis and hepatitis. Use of VPA can lead to gastrointestinal discomfort, weight gain, hair loss, tremor and sedation, but these side effects are rather uncommon, mild, and transient during VPA monotherapy. Potentially hazardous reactions such as hepatitis and pancreatitis have occurred in a few patients on VPA, generally with multidrug therapy. Some of the side effects are dose related. They infrequently lead to withdrawal of VPA. Side effects limited to initiation of CZP therapy include drowsiness, ataxia, and behavioral changes; they are usually transient but can lead to dose reduction or even withdrawal of the drug. Except for development of tolerance, CZP seems to be practically free of long-term side effects.
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PMID:Side effects of carbamazepine, valproate and clonazepam during long-term treatment of epilepsy. 642 98

Morphological changes of the thymus, tonsils, lymph nodes, spleen, and other organs in two observations of severe combined insufficiency (SCIN) in infants of the first year of life are described. In both cases there was hypoplasia of the thymus with the lack or occasional thymic bodies and poor content of thymocytes in the lobules. In one infant, hypoplasia of the thymus was combined with intestinal angiomatosis which suggested the syndrome of ataxia-teleangiectasia. In the other infant, SCIN was associated with severe granulocytopenia of the Kostman type. In this case epithelial cells of the lobules formed adenomatous structures. Both infants died with sepsis developing against the background of SCIN.
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PMID:[Hypoplasia of the thymus gland in children]. 686 Jan 70

Psychiatric medications cause side effects in several organ systems that need emergency evaluation and treatment. Serious cardiovascular side effects include postural hypotension, cardiac conduction blockade, and SA mode dysfunction; serious neurological side effects include extrapyramidal reactions, seizures, delirium, catatonia, pseudotumor cerebri, ataxia, and glaucoma; serious genitourinary side effects include urinary retention, nephrotic syndrome, and priapism, and the serious hematological side effect of agranulocytosis. Also potentially fatal syndromes secondary to psychiatric drugs are the neuroleptic malignant syndrome, hyperandrenergic crisis, the serotonin syndrome, and lithium toxicity. Individual psychiatric drug classes most notorious for causing side effects with high morbidity and mortality are low potency neuroleptics, clozapine, tertiary tricyclics, monoamine oxidase inhibitors, and lithium.
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PMID:Emergencies caused by side effects of psychiatric medications. 816 98

CI-980 is a synthetic mitotic inhibitor that binds to tubulin at the colchicine site, inhibiting the polymerization of microtubules and arresting cellular division in metaphase. Myelosuppression and neurotoxicity were dose-limiting in phase I studies. Sixteen patients with stage III and IV platinum-refractory ovarian cancer received 4.5 mg/m2/day of CI-980 as a continuous i.v. infusion for 72 h, repeated every 3 weeks. Eleven patients had progression and four patients had stable disease. One patient (6%; 95% CI 0-25%) achieved a partial response after 9 months of treatment which lasted for 27 months. The overall median survival was 7 months. Grade 4 granulocytopenia occurred in five patients, with two episodes of neutropenic fever. Neurological toxicity was mild with 12 episodes of transient subclinical recent memory loss documented in four patients by specialized neuropsychological evaluations. One patient each had hallucinations and mild truncal ataxia, and four patients had mild, reversible neurosensory toxicity. One episode of severe hypoxemia and dyspnea occurred in a patient with chronic obstructive pulmonary disease. CI-980 has minimal activity and is tolerable in a population of heavily pretreated patients with platinum refractory ovarian cancer.
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PMID:Phase II study of i.v. CI-980 in patients with advanced platinum refractory epithelial ovarian carcinoma. 966 May 37

Superficial siderosis of the central nervous system is a rare neurological disorder caused by deposits of haemosiderin on subplial brain matter. Characterised by a thin dark layer surrounding the brain stem, cerebellum and cortical fissures on the T2-weighted MRI, symptoms include sensorineural hearing loss and progressive gait ataxia. A specific aetiology for the blood in the subarachnoid space is identified in less than 50% of cases. While identification of a specific vascular defect allows for vascular repair, treatment options are limited for idiopathic superficial siderosis. Recently, a pilot safety study demonstrated promising results using an iron chelator, deferiprone. While this approach is promising, we present a potential serious complication of this therapy-the first report of agranulocytosis in the treatment of superficial siderosis following deferiprone therapy.
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PMID:Agranulocytosis with deferiprone treatment of superficial siderosis. 2392 81