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  • Title: Neuroacanthocytosis and aprebetalipoproteinemia.
    Author: Bohlega S, Riley W, Powe J, Baynton R, Roberts G.
    Journal: Neurology; 1998 Jun; 50(6):1912-4. PubMed ID: 9633762.
    Abstract:
    A 30-year-old woman presented with a progressive neurologic disorder characterized by seizures, buccolingual dyskinesias, orofacial tics, choreiform movements, atrophy, and areflexia. Investigations revealed normal lipid profile except for aprebetalipoproteinemia. Phase-contrast and electron microscopy showed 35 to 40% acanthocytes. MRI and 18fluorodeoxyglucose-PET studies showed caudate atrophy and hypometabolism. The phenotype of this patient is neuroacanthocytosis and its association with aprebetalipoproteinemia may represent a new subentity of the disorder.
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