Diagnostic tests for choreoacanthocytosis

Todd E. Feinberg, C. D. Cianci, J. S. Morrow, J. C. Pehta, C. M. Redman, T. Huima, W. J. Koroshetz

Research output: Contribution to journalArticlepeer-review

51 Scopus citations

Abstract

Two patients with striatal atrophy and a clinical syndrome consistent with choreoacanthocytosis had normal dried blood smears but their red cells demonstrated an abnormal sensitivity to various conditions known to promote discocyte-echinocyte transformation. Dilution in normal saline, in vitro aging, and contact with glass caused a great proportion of these patients’ red cells to develop multiple spiny or rounded projections. Under identical conditions, such shape changes did not occur in normal patients or in those with Huntington’s disease. Scanning electron microscopy showed that the age-induced increase in acanthocytic-appearing cells could be reversed with chlorpromazine. These data suggest that the red cells from these patients with striatal degeneration are deficient in their ability to preserve normal shape in the face of echinocytic stress and that this observation has diagnostic and, possibly, pathophysiologic significance.

Original languageEnglish
Pages (from-to)1000-1006
Number of pages7
JournalNeurology
Volume41
Issue number7
DOIs
StatePublished - Jul 1991

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