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)

A 35 month old girl had suffered from painful joint contractures of the whole body since a few months after birth, and she gradually developed numerous periarticular and subcutaneous nodules, hoarseness, swallowing difficulty with recurrent respiratory infections, nystagmus, and mental and developmental retardation. She was misdiagnosed as having juvenile rheumatoid arthritis at several university hospitals. Serologic studies for rheumatoid arthritis were all negative. Radiologic findings of the whole body showed osteoporosis and bony erosions; on brain CT the brain was diffusely atrophied. On cine-esophagography barium refluxed into the nasopharynx. Light microscopically, the reticular dermis and subcutis were markedly thickened with hyalinized sclerotic collagen bundles. There were interstitial and perivascular aggregates of foamy histiocytes which were positive for CD-68 immunostaining. On electron microscopy, foamy histiocytes were packed with numerous membrane-bound inclusions having C-shaped or worm-like profiles in addition to many myelin figures, occasional lipid droplets and rare banana-like bodies.
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PMID:A case of Farber lipogranulomatosis. 953 28

Congenital hereditary endothelial dystrophy (CHED) is a heritable, bilateral corneal dystrophy characterized by corneal opacification and nystagmus. We describe seven different mutations in the SLC4A11 gene in ten families with autosomal recessive CHED. Mutations in SLC4A11, which encodes a membrane-bound sodium-borate cotransporter, cause loss of function of the protein either by blocking its membrane targeting or nonsense-mediated decay.
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PMID:Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). 1676 1

Cattle in western Uruguay that were eating Solanum bonariense developed periodic episodes of ataxia, hypermetria, hyperesthesia, head and thoracic limb extension, opisthotonus, nystagmus, and falling to the side or backward. Similar clinical signs were experimentally reproduced in cattle by administration of S. bonariense via rumen cannula at a dose of 1,024 g/kg body mass. No significant gross lesions were observed in field cases or experimentally induced cases. Spontaneous and induced histologic lesions were similar and included vacuolation, degeneration, and loss of Purkinje cells. Axonal spheroids, microcavitations, and other changes of wallerian-type degeneration in cerebellar white matter were also observed. Ultrastructural changes included increased number of electron-dense residual storage bodies in membrane-bound vesicles in affected Purkinje cells, and similar vesicles and mitochondria in axonal spheroids. No histologic lesions were detected in the other examined tissues. The Purkinje-cell swelling and vacuolation with subsequent cerebellar degeneration are suggestive of Purkinje-cell specific toxin that produces abnormal lysosome function and cell specific axonal transport. This is the first report of S. bonariense toxicity.
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PMID:Cerebellar degeneration in cattle grazing Solanum bonariense ("Naranjillo") in Western Uruguay. 1678 23