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Diagnostic Test for Neuroacanthocytosis: Quantitative Measurement of Red Blood Cell Morphology

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Neuroacanthocytosis Syndromes

Abstract

Acanthocytosis is defined as an increased amount of abnormally shaped red blood cells with multiple spicules, which are irregular in shape, orientation and distribution. These morphological changes occur normally because of ultrastructural abnormalities of the erythrocyte membrane due to lipid or membrane skeleton alterations. Since genetic analyses and/or specific laboratory tests are available only for a minority of disorders associated with acanthocytosis, quantitative measurements of abnormal erythrocytes play a pivotal role in the diagnosis of neurological disorders associated with acanthocytosis. This review focuses on standardized procedures to quantify red blood cell morphology.

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Storch, A., Schwarz, J. (2004). Diagnostic Test for Neuroacanthocytosis: Quantitative Measurement of Red Blood Cell Morphology. In: Danek, A. (eds) Neuroacanthocytosis Syndromes. Springer, Dordrecht. https://doi.org/10.1007/1-4020-2898-9_9

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