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)

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

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

Two instances of successful treatment of the rare ocular dyskinesia, opsoclonus, with chlormethiazole are reported. A 65-year-old woman had the opsoclonus-myoclonus syndrome associated with carcinoma of the breast; her myoclonia and opsoclonus did not respond to intravenous diazepam or phenytoin. Treatment with intravenous chlormethiazole resulted in rapid control of her myoclonic attacks, followed by slower but complete resolution of the opsoclonus. Following control of the acute symptoms the patient was transferred to an oral chlormethiazole maintenance dose which was further reduced and subsequently discontinued after 5 months, when the patient's overall clinical status had improved. A 53-year-old man with opsoclonia, myoclonia, ataxia and encephalopathy, not associated with neoplasia, was given immunosuppressor drugs to establish basal control, and oral chlormethiazole for symptomatic treatment. Almost immediately after the initial dose of chlormethiazole the patient became more orientated; he was sedated and the agitation and myoclonic fits were brought under control quite quickly. The opsoclonus responded progressively and was completely resolved after a few days. The initial oral dose of chlormethiazole was gradually reduced and was discontinued after 5-6 months. Chlormethiazole was well tolerated; it may have an important role in the management of the rare opsoclonus-myoclonus syndrome.
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PMID:Chlormethiazole in the management of the opsoclonus-myoclonus syndrome. 818 45