Chorea acanthocytosis is a rare hereditary disease caused by a mutation of the gene that directs structural proteins in red blood cells. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. The thorny cells are called acanthocytes.
Other effects of the disease may include epilepsy, behaviour changes, muscle degeneration, and neuronal degradation similar to Huntington's Disease. The average age of onset of symptoms is 35 years. The disease is incurable and inevitably leads to premature death.
The 4.1R protein of the erythrocyte membrane is critical for the membrane-associated cytoskeleton structure and in central neurons it regulates the stabilization of AMPA receptors on the neuronal surface at the postsynaptic density.
Acanthocytosis is found to be associated with at least three hereditary neurological disorders that are generally referred to as neuroacanthocytosis (NA): Chorea-acanthocytosis (ChAc), Abetalipoproteinaemia, and McLeod syndrome [1,2].
Acanthocytosis and abnormalities of erythrocyte membrane proteins were revealed in all of the patients.
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