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Genetics Home Reference: your guide to understanding genetic conditions
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Chorea-acanthocytosis

Reviewed May 2008

What is chorea-acanthocytosis?

Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of conditions called neuroacanthocytoses that involve neurological problems and abnormal red blood cells.

In addition to chorea, another common feature of chorea-acanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. These muscle twitches can cause vocal tics (such as grunting), involuntary belching, and limb spasms. Eating can also be impaired as tongue and throat twitches can interfere with chewing and swallowing food. People with chorea-acanthocytosis may uncontrollably bite their tongue, lips, and inside of the mouth. Nearly half of all people with chorea-acanthocytosis have seizures.

Individuals with chorea-acanthocytosis may develop difficulty processing, learning, and remembering information (cognitive impairment). They may have reduced sensation and weakness in their arms and legs (peripheral neuropathy) and muscle weakness (myopathy). Impaired muscle and nerve functioning commonly cause speech difficulties in individuals with this condition, and can lead to an inability to speak.

Behavioral changes are a common feature of chorea-acanthocytosis and may be the first sign of this condition. These behavioral changes may include changes in personality, obsessive-compulsive disorder (OCD), lack of self-restraint, and the inability to take care of oneself.

The signs and symptoms of chorea-acanthocytosis usually begin in early to mid-adulthood. The movement problems of this condition worsen with age. Loss of cells (atrophy) in certain brain regions is the major cause of the neurological problems seen in people with chorea-acanthocytosis.

How common is chorea-acanthocytosis?

It is estimated that 500 to 1,000 people worldwide have chorea-acanthocytosis.

What genes are related to chorea-acanthocytosis?

Mutations in the VPS13A gene cause chorea-acanthocytosis. The VPS13A gene provides instructions for producing a protein called chorein; the function of this protein in the body is unknown. Some researchers believe that chorein plays a role in the movement of proteins within cells. Most VPS13A gene mutations lead to the production of an abnormally small, nonfunctional version of chorein. The VPS13A gene is active (expressed) throughout the body; it is unclear why mutations in this gene affect only the brain and red blood cells.

Related Gene(s)

Changes in this gene are associated with chorea-acanthocytosis.

  • VPS13A

How do people inherit chorea-acanthocytosis?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of chorea-acanthocytosis?

These resources address the diagnosis or management of chorea-acanthocytosis and may include treatment providers.

  • Gene Review: Chorea-Acanthocytosis (http://www.ncbi.nlm.nih.gov/books/NBK1387/)
  • Genetic Testing Registry: Choreoacanthocytosis (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0393576)

You might also find information on the diagnosis or management of chorea-acanthocytosis in Educational resources (http://www.ghr.nlm.nih.gov/condition/chorea-acanthocytosis/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/chorea-acanthocytosis/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about chorea-acanthocytosis?

You may find the following resources about chorea-acanthocytosis helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for chorea-acanthocytosis?

  • acanthocytosis with neurologic disorder
  • CHAC
  • choreoacanthocytosis

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about chorea-acanthocytosis?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding chorea-acanthocytosis?

atrophy ; autosomal ; autosomal recessive ; cell ; chorea ; dystonia ; expressed ; gene ; involuntary ; neurologic ; neurological ; neuropathy ; obsessive-compulsive disorder ; OCD ; peripheral ; peripheral neuropathy ; protein ; recessive ; sign

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bohlega S, Al-Jishi A, Dobson-Stone C, Rampoldi L, Saha P, Murad H, Kareem A, Roberts G, Monaco AP. Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula. Mov Disord. 2003 Apr;18(4):403-7. (http://www.ncbi.nlm.nih.gov/pubmed/12671946?dopt=Abstract)
  • Danek A, Jung HH, Melone MA, Rampoldi L, Broccoli V, Walker RH. Neuroacanthocytosis: new developments in a neglected group of dementing disorders. J Neurol Sci. 2005 Mar 15;229-230:171-86. Epub 2005 Jan 7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15760637?dopt=Abstract)
  • Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel LP, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupré N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Németh A, Monaco AP. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet. 2002 Nov;10(11):773-81. (http://www.ncbi.nlm.nih.gov/pubmed/12404112?dopt=Abstract)
  • Dobson-Stone C, Velayos-Baeza A, Filippone LA, Westbury S, Storch A, Erdmann T, Wroe SJ, Leenders KL, Lang AE, Dotti MT, Federico A, Mohiddin SA, Fananapazir L, Daniels G, Danek A, Monaco AP. Chorein detection for the diagnosis of chorea-acanthocytosis. Ann Neurol. 2004 Aug;56(2):299-302. (http://www.ncbi.nlm.nih.gov/pubmed/15293285?dopt=Abstract)
  • Dobson-Stone C, Velayos-Baeza A, Jansen A, Andermann F, Dubeau F, Robert F, Summers A, Lang AE, Chouinard S, Danek A, Andermann E, Monaco AP. Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. Neurogenetics. 2005 Sep;6(3):151-8. Epub 2005 Sep 28. (http://www.ncbi.nlm.nih.gov/pubmed/15918062?dopt=Abstract)
  • Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carrè S, Alonso E, Manfredi M, Németh AH, Monaco AP. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet. 2001 Jun;28(2):119-20. (http://www.ncbi.nlm.nih.gov/pubmed/11381253?dopt=Abstract)
  • Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, Tanabe H, Yamashita Y, Matsuda S, Kaneko S, Sano A. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet. 2001 Jun;28(2):121-2. (http://www.ncbi.nlm.nih.gov/pubmed/11381254?dopt=Abstract)
  • Walker RH, Jung HH, Dobson-Stone C, Rampoldi L, Sano A, Tison F, Danek A. Neurologic phenotypes associated with acanthocytosis. Neurology. 2007 Jan 9;68(2):92-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17210889?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2008
Published: July 7, 2014