Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary tumors of the pineal body can produce dyscoordinative movements of the eye, pupillary dilatation, paralysis of adduction during convergence and nystagmus. Obstruction of the aqueduct can cause hydrocephalus, increased intracranial pressure and papilledema. Diabetes insipidus may be a presenting symptom. Pinealocytes and the photoreceptors of the eye contain several autoantigens. In man, the best known is the S-antigen. This antigen can be detected in the cerebrospinal fluid of patients with primary tumors of the pineal body. The S-antigen, and possibly other related autoantigens, can elicit an autoimmune mediated reaction causing inflammatory eye symptoms. This recently described paraneoplastic neurologic syndrome shares properties in common with other known cancer-associated ophthalmologic syndromes characterised by rapid development of eye symptoms, rapid loss of sight and by eye manifestations prior to evident appearance of symptoms related to primary tumor growth. A primary tumor of the pineal body should be considered in patients where a monosymptomatic uveoretinitis presents without associated provoking factors. Furthermore, analyses of S-antigen in the spinal fluid can be useful in the clinical diagnosis of the same primary tumors.
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PMID:[Physiopathologic mechanisms behind eye symptoms in primary tumors of the pineal body]. 843 Apr 65

Paraneoplastic cerebellar degeneration is a rare neurological disorder that frequently precedes the detection of malignancy. Here, we report the case of a 60 year-old woman with locally advanced squamous cell carcinoma of the tongue who developed a subacute cerebellar syndrome associated with the presence of anti-CV2/CRMP5 antibodies in the cerebrospinal fluid, after achieving complete remission of the primary tumor and the involved cervical lymph nodes by chemoradiation. The patient's symptoms on presentation were dizziness and gait unsteadiness. On examination she showed dysarthria, nystagmus and limb and gait ataxia. The diagnosis of paraneoplastic cerebellar syndrome was made on the basis of the clinical findings and immunological testing that revealed the presence of anti-CV2/CRMP5 antibodies in the patient's cerebrospinal fluid. This syndrome, which is very rare in association with head and neck cancer, commonly precedes the detection of malignancy by a year or more and has been documented in only a few cases after completion of anticancer treatment.
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PMID:Anti-CV2 associated cerebellar degeneration after complete response to chemoradiation of head and neck carcinoma. 1979 70