Chorea Acanthocytosis Syndrome is a congenital neurological disorder that affects the movement and intellectual abilities of those affected. Primarily, Chorea Acanthocytosis Syndrome manifests itself with movement disabilities including chorea, involuntary muscle movements, dystonia, and myopathy in their limbs as well as in their facial muscles. In addition, Chorea Acanthocytosis Syndrome often includes a case of acanthocytosis, a condition in which a person has star-shaped red blood cells. Other symptoms include seizures, loss of appetite, behavorial issues, and difficulty learning. There is no cure for this condition, but treatment options are available to help the symptoms. Typically, a person is diagnosed with it in their early adult years, and life expectancy is often decreased. Chorea Acanthocytosis Syndrome is thought to be caused by a mutation in the VPS13A gene, and the condition is passed down in an autosomal recessive manner.
Laverne is a handy bioinformatics tool to help facilitate scientific exploration of related genes, diseases and pathways based on co-citations. Explore more on Chorea Acanthocytosis Syndrome below!
For more information on how to use Laverne, please read the How to Guide.
We have 254 products for the study of Chorea Acanthocytosis Syndrome that can be applied to Western Blot, Chromatin Immunoprecipitation, Immunocytochemistry/Immunofluorescence, Flow Cytometry, Immunohistochemistry, Chromatin Immunoprecipitation (ChIP) from our catalog of antibodies and ELISA kits.