Choreoacanthocytosis is an autosomal recessive disorder caused by pathogenic variants in the VPS13A gene. It is most common in people of Japanese or Ashkenazi Jewish heritage. The clinical presentation can vary greatly between patients. Most patients will develop involuntary movements (chorea), particularly with dystonia of the facial muscles. The majority of patients will also develop changes in personality and behavior, which can range between apathy, depression, hyperactivity, immaturity, loss of insight, paranoia, and anxiety. Patients often lose cognitive function and may develop epilepsy and muscular neuropathies. No genotype-phenotype relationship has been reported; even within families, both the age of onset and the course of symptoms are highly variable. Age of onset is usually in the 30s but symptoms can appear anytime between age 10 and age 70. Symptoms are typically progressive after onset, and life expectancy is reduced, with death usually occurring between ages 30 and 60.
For information about carrier frequency and residual risk, please see the residual risk table.