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    Ann Neurol. 2000 Feb;47(2):260-4.

    Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome.

    Aguglia U, Annesi G, Pasquinelli G, Spadafora P, Gambardella A, Annesi F, Pasqua AA, Cavalcanti F, Crescibene L, Bagalà A, Bono F, Oliveri RL, Valentino P, Zappia M, Quattrone A.

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    Institute of Neurology, School of Medicine, University of Catanzaro, Italy.

    Abstract

    We report on 2 brothers (aged 19 and 12 years) with Marinesco-Sjögren syndrome who also had very low serum vitamin E concentrations with an absence of postprandial chylomicrons. The molecular study ruled out ataxia with isolated vitamin E deficiency, abetalipoproteinemia, and hypobetalipoproteinemia. The electron microscopy of the intestinal mucosa was consistent with a chylomicron retention disease. We speculate that both chylomicron retention disease and Marinesco-Sjögren syndrome are related to defects in a gene crucial for the assembly or secretion of the chylomicron particles, leading to very low serum levels of vitamin E.

    PMID:
    10665502
    [PubMed - indexed for MEDLINE]

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