Red blood cells are disc shaped cells that carry oxygen in the blood. There are various disorders that can lead to an abnormal shape of these cells. The term acanthocytosis describes the presence of distorted red blood cells (acanthocytes) in the blood. The cells become denser and irregularly shaped with spiculated (sharp spur-like) protrusions. The normal shape of red blood cells are determined by certain proteins in its cell membrane. When there are certain defects or deficiencies of these proteins, abnormal shapes of the red blood cells are seen. However, these proteins are also common to other types of cells in the body like the nerve cells and brain tissue. This collectively leads to certain conditions marked by abnormalities of both the red blood cells and disturbances in brain function.
Neuroacanthocytosis (NA) describes a range of neurological conditions that arise with inherited abnormalities in red blood cells. The disturbances of the nerves that are present with neuroacanthocytosis affects movement and personality traits. Neuroacanthocytosis is diagnosed by the presence of characteristic star-shaped red blood cells at any stage of disease. Initial onset of the disease may occur either during infancy or adulthood. The neurological symptoms may not be evident at the outset. Overall the condition is found to be more prevalent among males.