Other Names for this Disease
- Neuroacanthocytosis syndrome
 The onset, severity and specific physical findings vary depending upon the specific type of NA present. 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. NA syndromes typically progress to cause serious, disabling complications and are usually fatal. NA is inherited, but the disease-causing gene and inheritance pattern varies for each type. 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).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.
Last updated: 12/21/2011
- Neuroacanthocytosis. NORD. March 30, 2011; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/975/viewAbstract. Accessed 12/21/2011.
- NINDS Neuroacanthocytosis Information Page. NINDS. March 16, 2009; http://www.ninds.nih.gov/disorders/neuroacanthocytosis/neuroacanthocytosis.htm. Accessed 12/21/2011.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.