Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0008489 (chorea)
 2,102 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A study with freeze-fracture electron microscopy was made on erythrocyte membrane in 5 patients with the hereditary neurological disease with chorea, areflexia, and acanthocytosis (Levine et al. 1968). Fixed or unfixed specimens from circulating blood were processed by the freeze-fracture technique, and the distribution of the intramembranous particles was studied. A significant increase in areas without intramembraneous particles (IMP-free areas) was found in all cases with the disease as compared to normal subjects. The group mean value of IMP-free areas was 0.11 +/- 0.01 X 10-2 micrometer2/micrometer2 fracture face in the normal P face and 0.10 +/- 0.04 in the normal E face, compared with 1.77 +/- 0.49 in the P face and 1.33 +/- 0.17 in the E face in material from patients. Although abnormalities in lipid metabolism or membrane properties of erythrocytes have not been revealed in this condition hitherto, the present data suggest an abnormality of membrane fluidity due to abnormal lipid metabolism in this unique disease with neurological disorders and acanthocytosis.
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PMID:Morphological abnormalities of erythrocyte membrane in the hereditary neurological disease with chorea, areflexia and acanthocytosis. 621 28