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)

2 patients, who were treated with clioquinol after radical resection of carcinoma of the rectum and colostomy, developed symmetrical sensorimotor polyneuropathy, mild posterior tract ataxia, bilateral pyramidal tract lesions and optic neuropathy, a clinical picture compatible with subacute myelo-optic-neuropathy (S.M.O.N.). One patient had neurological symptoms after having received 750 g of clioquinol, 3 years after treatment started, and impairment of vision was noted after having received 1200 g. The other patient had neurological symptoms 6 weeks after clioquinol was first given, having received 65 g, the average daily dose being 1.5 g, and vision was impaired after 765 g had been administered. On examination 12 and 14 months after clioquinol had been discontinued, the first patient's vision was slightly improved, but he was otherwise unchanged, while the vision of the other patient was unchanged, but she had otherwise deteriorated slightly neurologically. Electrophysiological examinations confirmed the clinical observations. A multifactor etiology of the syndrome: neurotoxicity of clioquinol, paraneoplastic neuropathy and malabsorption, is discussed.
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PMID:[Subacute myelo-optic-neuropathy (S.M.O.N.) following treatment with clioquinol (author's transl)]. 5 Oct 51

A neurological disorder developed after prolonged exposure to nitrous oxide in 15 patients, all but 1 of whom were dentists. 13 patients had abused nitrous oxide to some extent for periods ranging from 3 months to several years, but 2 patients were exposed to nitrous oxide only professionally, by working in poorly ventilated surgeries. Symptoms included early sensory complaints, Lhermitte sign, loss of balance, leg weakness, gait ataxia, impotence, and sphincter disturbances. Neurological examination showed sensorimotor polyneuropathy, often combined with signs of involvement of the posterior and lateral columns of the spinal cord. Electrodiagnostic tests pointed to an axonal polyneuropathy, but other laboratory results were normal, including examination of the spinal fluid. The neurological picture is similar to that of subacute combined degeneration of the spinal cord, and it is possible that nitrous oxide interferes with the action of vitamin B12 in the nervous system.
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PMID:Myeloneuropathy after prolonged exposure to nitrous oxide. 8 36

All five members of a family developed subacutely mental confusion and/or truncal ataxia. Symptoms and signs of polyneuropathy were seen later. The well water in the patients' home contained 400 ppm acrylamide. The present cases are unique in that they are cases of acrylamide poisoning induced by oral intake and percutaneous penetration, and that central nervous system symptoms were prominent.
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PMID:Acrylamide encephaloneuropathy due to well water pollution. 16 22

Neurologic complications may appear before the primary disease, alcoholism, is recognized. The common syndromes are polyneuropathy, the withdrawal syndrome and the combination of Wernicke's encephalopathy and Korsakoff's psychosis. Other conspicuous clinical pictures include ataxia of cerebellar origin, convulsions, acute hallucinosis, myopathy and coma. Rarer disorders are Marchiafava-Bignami disease and central pontine myelinolysis.
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PMID:The neurologic complications of alcoholism. 18 91

The clinical details and results of some laboratory investigations are described in 4 patients who initially presented with severe external ophthalmoplegia, ataxia and areflexia. In 3 of these patients paresis of the limbs was restricted and minimal as in the syndrome first described by Fisher (1956). The fourth patient initially presented with similar symptoms but his illness progressed to a more typical form of acute idiopathic polyneuropathy, confirming Fisher's (1956) contention that this syndrome is an unusual variant of acute idiopathic polyneuritis.
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PMID:Syndrome of ophthalmoplegia, ataxia and areflexia. 61 11

Eight patients representing five different, probably hereditary neurological syndromes with oligophrenia and hypogonadism as the common features have been examined clinically and endocrinologically. Two sisters suffered from polyneuropathy, one male from ataxia, one male from spastic tetraplegia, two sisters and a brother from myopathy and one male patient from epilepsy and polyneuropathy. The latter patient was diagnosed as having an acute intermittent porphyria. All the patients had degenerative neurological disorders. The karyotypes were normal. The patients all had signs of hypogonadism. Four male patients had marked testicular atrophy but otherwise normal external genitalia. The testosterone levels in the blood were normal or slightly decreased. Three of the females had their menarche at a normal age but a very early menopause. The fourth female has never menstruated. The four females had normal breasts and body hair. All patients had high basal luteinizing hormone (LH) and follicle-stimulating hormone levels and the response to i.v. LH-releasing hormone was exaggerated. The prolactin values were normal. None of the examined patients had any signs of thyroid or adrenal insufficiency and the sella turcica was normal. A possible etiology to their hypergonadotropic hypogonadism is discussed.
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PMID:Hypergonadotropic hypogonadism in oligophrenia. 68 19

We describe 3 children (from two families) with a multisystemic disorder characterized by mental retardation, nonprogressive ataxia, polyneuropathy, hepatopathy during infancy and growth retardation. Due to the clinical similarities to a recently recognized disorder associated with carbohydrate-deficient transferrin, we examined serum transferrin by means of isoelectric focusing, and found increases in disialo transferrin and asialotransferrin. Removal of sialic acid with neuraminidase revealed the same transferrin phenotypes as in their parents. Similarly, carbohydrate-deficient fractions of serum alpha 1-antitrypsin were also detected. Therefore, the diagnosis was made of the recently identified carbohydrate-deficient glycoprotein syndrome. This is a genetic disorder with distinctive clinical features and multiple carbohydrate-deficient glycoproteins. These seem to be the first reported Japanese patients with this syndrome.
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PMID:The carbohydrate deficient glycoprotein syndrome in three Japanese children. 159 May 25

We report on a 5 1/2 year-old boy with chronic progressive polyneuropathy, ataxia, and pyramidal signs. His hair was not curled. Sural nerve biopsy disclosed many axons enlarged by accumulation of 10-nm neurofilaments and a marked variability in the number of myelinated fibers as well as in the amount of axonal enlargements among different fascicles. These findings and the electrophysiological data were consistent with a giant axonal polyneuropathy with a multifocal fiber loss.
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PMID:Giant axonal neuropathy: report on a case with focal fiber loss. 162 11

A 64 year old woman died at the third attack of MFS. Histological examination demonstrated segmental demyelination and axonal swelling of the peripheral nerves studied, oculomotor included. In the C.N.S. only mild chromatolytic changes and rare pyknosis of the nerve cells in the midbrain were found without signs of primary inflammation. We reviewed the findings in all the 4 anatomoclinical cases of MFS and in 2 cases of GBS with ophthalmoplegia or ataxia. With one exception, they appear to be concordant with those of our case. As the histological examination showed CNS involvement consequent upon peripheral nerve impairment, we are bound to change our opinion on the nosological position of MFS. Any small CT enhancements in the brain in MFS may be due, as in some cases of demyelinating polyneuropathy, to focal rupture of the blood-brain barrier.
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PMID:Localization of the pathological process in Miller Fisher syndrome. 162 78

Observations have been made on a consecutive series of 62 patients with peripheral neuropathy associated with benign monoclonal paraproteinaemia. The paraprotein class was IgM in 46 cases, IgG in 11 and IgA in 5. Although showing variations between patients, the clinical picture was similar for those with either IgM or IgG paraproteins, usually consisting of a late-onset, slowly progressive, distal sensorimotor demyelinating polyneuropathy, often with tremor and ataxia as prominent features. Tremor was slightly more common in patients with IgM paraproteins, in whom there was a male preponderance. The patients with both paraprotein classes were indistinguishable clinically and electrophysiologically from chronic idiopathic demyelinating polyneuropathy. In the 5 patients with an IgA paraprotein, there was a distal sensorimotor neuropathy in 4 which was demyelinating in 1. In 1 there was proximal demyelinating motor neuropathy. Immunoglobulin deposition on myelin was observed only in the patients with IgM paraproteinaemia, more commonly with a kappa light chain. No deposition of immunoglobulin in the endoneurium was seen. IgM deposits on the perineurium are a feature of normal nerve and were present in all cases. Widely spaced myelin was confined to cases with IgM paraproteins in which immunoglobulin deposition was detected on myelin. The response to treatment could not be assessed systematically but, in general, the patients with IgG and IgA paraproteins responded more satisfactorily (to corticosteroids, cytotoxic drugs, or plasma exchange) than did those with an IgM paraprotein.
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PMID:The clinical spectrum of peripheral neuropathies associated with benign monoclonal IgM, IgG and IgA paraproteinaemia. Comparative clinical, immunological and nerve biopsy findings. 166 64


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