Neuroacanthocytosis

What is Neuroacanthocytosis?
Neuroacanthocytosis is a rare movement disorder marked by progressive muscle weakness and atrophy, progressive cognitive loss, chorea (involuntary twisting movements of the body), and acanthocytosis (spiked red blood cells associated with several inherited neurological disorders). Other symptoms include facial tics, uncontrolled muscle movement, instability when walking, seizures, biting of the tongue and lips, and changes in personality, comprehension, and judgment. The disorder is due to degeneration of the basal ganglia (a part of the brain that helps control movement) and loss of neurons in the brain and spinal cord. Neuroacanthocytosis has adult and childhood varieties. In adults, onset of classic symptoms is usually begins between ages 20 and 50, while in children onset is typically seen in adolescence (but may occur earlier). Adult varieties can involve the heart and immune system. Neuroacanthocytosis is typically an inherited autosomal recessive disorder and is more common in males than in females. Some types of neuroacanthocytosis have been found to be caused by specific gene defects. Parkinsonism has been associated with the disorder in some patients.

Is there any treatment?
Treatment is symptomatic and supportive. Antipsychotic drugs that block dopamine, such as haloperidol, can provide temporary relief from tics and chorea. Drugs used to decrease anxiety, such as diazepam and benzodiazepine, can also decrease movement disorders, which are often made worse by associated stress. Injections of botulinum toxin can relax muscles and reduce unintentional movement. Other drug therapy may include anticonvulsants and antidepressants. Proper nutrition is required. A feeding tube may be needed for some patients as the disorder progresses. Speech therapy and physical therapy may provide some relief to select patients.

What is the prognosis?
Neuroacanthocytosis is a progressive disease. It is often fatal, generally the result of symptoms that contribute to pneumonia, cardiomyopathy, eating problems, or other complications. Life expectancy following onset of severe symptoms is typically 5-10 years. However, life span may be near normal for patients with no prominent neurologic or cardiac complications.

What research is being done?
The NINDS supports research on disorders such as neuroacanthocytosis, aimed at increasing scientific understanding of the disorders and finding ways to prevent and treat them. The molecular changes responsible for some types of neuroacanthocytosis have recently been identified. Researchers are examining the role of the basal ganglia in neuroacanthocytosis and hope to correlate the specific genetic abnormalities with the clinical features of the disease. Other research is aimed at identifying possible causes of sudden death related to heart muscle abnormality in patients with neuroacanthocytosis.

Select this link to view a list of studies currently seeking patients.