Frequency
It is estimated that 500 to 1,000 people worldwide have chorea-acanthocytosis.
Causes
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.
Inheritance
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.
Other Names for This Condition
- CHAC
- Choreoacanthocytosis
- Neuroacanthocytosis
Additional Information & Resources
Genetic Testing Information
Genetic and Rare Diseases Information Center
Patient Support and Advocacy Resources
Clinical Trials
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
References
- Benninger F, Afawi Z, Korczyn AD, Oliver KL, Pendziwiat M, Nakamura M, Sano A, Helbig I, Berkovic SF, Blatt I. Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation. Epilepsia. 2016 Apr;57(4):549-56. doi: 10.1111/epi.13318. Epub 2016 Jan 27. Citation on PubMed
- Connolly BS, Hazrati LN, Lang AE. Neuropathological findings in chorea-acanthocytosis: new insights into mechanisms underlying parkinsonism and seizures. Acta Neuropathol. 2014 Apr;127(4):613-5. doi: 10.1007/s00401-013-1241-3. Epub 2014 Jan 7. No abstract available. Citation on PubMed
- 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, Dupre N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Nemeth A, Monaco AP. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet. 2002 Nov;10(11):773-81. doi: 10.1038/sj.ejhg.5200866. Citation on PubMed
- 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. doi: 10.1007/s10048-005-0220-9. Epub 2005 Sep 28. Citation on PubMed
- Karkheiran S, Bader B, Roohani M, Danek A, Shahidi GA. Chorea-acanthocytosis: report of three cases from Iran. Arch Iran Med. 2012 Dec;15(12):780-2. Citation on PubMed
- 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, Carre S, Alonso E, Manfredi M, Nemeth AH, Monaco AP. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet. 2001 Jun;28(2):119-20. doi: 10.1038/88821. Citation on PubMed
- 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. doi: 10.1038/88825. Citation on PubMed
- 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. doi: 10.1212/01.wnl.0000250356.78092.cc. Citation on PubMed
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