National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Neuroacanthocytosis


Other Names:
Neuroacanthocytosis syndrome
Subtypes:
Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.[1] The onset, severity and specific physical findings vary depending upon the specific type of NA present.[1] Signs and symptoms usually include chorea (involuntary, dance-like movements), involuntary movements of the face and tongue, progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes.[1][2] NA syndromes typically progress to cause serious, disabling complications and are usually fatal.[1] NA is inherited, but the disease-causing gene and inheritance pattern varies for each type.[1][2] Although there is some disagreement in the medical literature about what disorders should be classified as forms of NA, four distinct disorders are usually classified as the "core" NA syndromes - chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN).[1]
Last updated: 12/21/2011
There is currently no cure for neuroacanthocytosis. Management generally focuses on the specific symptoms that are present in each individual and may require the coordination of various specialists. Psychiatric symptoms and chorea may be treated with certain antipsychotic medications known as dopamine-receptor blocking drugs. Other antipsychotic medications as well as antidepressants and/or sedatives may also be used to treat some affected individuals. Seizures may be treated with anti-convulsants, which may also help to treat psychiatric symptoms. Anti-seizure medications that can can worsen involuntary movements are generally avoided. Dystonia has been treated with botulinum toxin to relax the muscles and reduce spasms. Because of feeding difficulties in some cases, individuals may need to have their nutrition monitored. Nutritional support, supplementation and/or a feeding tube may be necessary in some cases. Additional therapies that may be used to treat affected individuals may include speech therapy, physical therapy and occupational therapy. Mechanical devices, such as braces or a wheelchair, may benefit some people. Computer-assisted speech devices may be necessary in some cases.[1]

More detailed information about treatment for neuroacanthocytosis is available on eMedicine's Web site and can be viewed by clicking here.
Last updated: 12/28/2011

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Neuroacanthocytosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Neuroacanthocytosis. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have 3 brothers (and one that died 3 years ago) suffering from a genetic rare disease, neuroacanthocytosis. I am looking for any information about new medicines or any other suggestions. See answer


  1. Neuroacanthocytosis. NORD. March 30, 2011; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/975/viewAbstract. Accessed 12/21/2011.
  2. NINDS Neuroacanthocytosis Information Page. NINDS. March 16, 2009; http://www.ninds.nih.gov/disorders/neuroacanthocytosis/neuroacanthocytosis.htm. Accessed 12/21/2011.