Choreoacanthocytosis

Common Name(s)

Choreoacanthocytosis

Choreoacanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Choreoacanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner.  There are currently no treatments to prevent or slow the progression of choreoacanthocytosis; treatment is symptomatic and supportive.  
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Choreoacanthocytosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Choreoacanthocytosis" returned 2 free, full-text research articles on human participants. First 3 results:

A case of choreoacanthocytosis with marked weight loss: impact of orolingual dyskinesia.
 

Author(s): Mohammad Hossein Harirchian, Mahdi Maghbooli, Afsaneh Shirani

Journal: Neurol India. 2006 Sep;54(3):296-7.

 

Choreoacanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder characterized by progressive onset of hyperkinetic movements and red cell acanthocytosis. The most striking clinical feature is that of the orofacial and lingual movement abnormalities leading to ...

Last Updated: 28 Aug 2006

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Reduction of striatal glucose metabolism in McLeod choreoacanthocytosis.
 

Author(s): M Oechsner, R Buchert, W Beyer, A Danek

Journal: J. Neurol. Neurosurg. Psychiatr.. 2001 Apr;70(4):517-20.

 

McLeod syndrome is a distinct form of neuroacanthocytosis. Its defining feature is the depression of erythrocyte Kell antigens. The underlying X chromosomal mutations cause a dysfunction of an erythrocyte membrane protein Kx. A choreatic movement disorder with caudate atrophy in CT ...

Last Updated: 20 Mar 2001

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Choreoacanthocytosis" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.