Choreoacanthocytosis (ChAc) is an uncommon neurodegenerative disorder characterized by seizures, progressive movement disorder, cognitive and behavior changes, myopathy that can be subclinical, and chronic hyperCKemia in serum. Onset is typically between 20 and 40 years of age, although ChAc can develop as early as the first decade or as late as the seventh decade. 500 to 1,000 cases of ChAc has been reported worldwide.
The diagnosis of ChAc is based on clinical findings, characteristic MRI findings, and evidence of muscle disease. There are currently no treatment options to prevent or slow the progression of ChAc. Management is purely symptomatic and supportive.
Choreoacanthocytosis (ChAc) is caused by mutations in the VSP13A gene, which results in the synthesis of an abnormally small and nonfunctional version of a protein called chorein. The function of this protein in the body is unknown. It may play a role in the movement of proteins within cells.