Abstract
The presence of acanthocytes in the blood is characteristic of patients suffering from neuroacanthocytosis (NA). Recent studies have described abnormal phosphorylation of the proteins involved in connecting the membrane and cytoskeleton in patient-derived erythrocytes. The involvement of lipids in the underlying signaling pathways and recent reports on in vitro disease-associated lipid alterations support renewed research into lipid composition, signal transduction, and metabolism in patient erythrocytes. In addition to morphology, changes in membrane organization affect erythrocyte function and survival. Patient erythrocytes may have a decreased ability to deform, and this may contribute to accelerated erythrocyte removal and a decreased oxygen supply, especially in vulnerable brain regions. The presently available data indicate that acanthocytes are likely to originate in the bone marrow, making erythropoiesis an obvious new focus in NA research. Moreover, new, detailed morphological observations indicate that acanthocytes may be the tip of the iceberg with regard to misshapen erythrocytes in the circulation of patients with NA.
A systematic assessment of patient erythrocyte morphology, deformability, oxygen delivery, and metabolism will be instrumental in determining the putative contribution of erythrocyte function to NA clinical symptoms.