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NORD is very grateful to Ruth H. Walker, MB, ChB, PhD, Director, Movement Disorders Clinic, Department of Neurology, James J. Peters VA Medical Center; Associate Professor, Department of Neurology, Mount Sinai School of Medicine, for assistance in the preparation of this report.
Synonyms of Neuroacanthocytosis
- Levine-Critchley syndrome
- chorea-acanthocytosis (choreoacanthocytosis)
- Huntingon's disease-like 2
- McLeod syndrome
- pantothenate kinase-associated neurodegeneration (PKAN)
Neuroacanthocytosis is a general term for a group of rare progressive disorders characterized by the association of misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. Chorea, which is characterized by rapid, involuntary, purposeless movements, especially of the face, feet and hands, is the most common movement disorder associated with neuroacanthocytosis. Additional symptoms often develop including progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. The onset, severity and specific physical findings vary depending upon the specific type of neuroacanthocytosis present. Neuroacanthocytosis syndromes typically progress to cause serious, disabling and sometimes life-threatening complications (and are usually fatal). These disorders are inherited although the mode of transmission can vary. There is disagreement in the medical literature about what disorders should be classified as forms of neuroacanthocytosis. Four distinct disorders are usually classified as the "core" neuroacanthocytosis syndromes - chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN). Some medical sources also include abetalipoproteinemia and hypobetalipoproteinemia types I and II as forms of neuroacanthocytosis. This report concentrates only on the four "core" disorders of neuroacanthocytosis. NORD has a separate report on abetalipoproteinemia.
Organizations related to Neuroacanthocytosis
NORD offers an online community for this rare disease. RareConnect was created by EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. You can view these international, rare disease communities at www.rareconnect.org.
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