Choreoacanthocytosis is a rare neurological disorder primarily impacting the nervous system, resulting in abnormal movements, cognitive difficulties, psychiatric symptoms, and seizures.
Choreoacanthocytosis is a progressive disorder typically initiates its symptoms between the ages of 20 and 40 and continues to worsen over a span of 15 to 30 years. Early signs may encompass behavioral changes such as obsessive-compulsive symptoms, tics, shifts in personality, and movement abnormalities. Psychiatric symptoms like depression or schizophrenia-like psychosis are prevalent in those affected. Some individuals may exhibit self-injurious behaviors like biting their tongue, lip, or fingers. As the disease advances, affected individuals experience declining control over speech and swallowing-related movements. It’s crucial to note that symptoms can vary significantly, even among individuals from the same family.
Choreoacanthocytosis is caused by pathogenic (disease-causing) variants in the VPS13A gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 628 chance to be a carrier.
Another name for this condition is neuroacanthocytosis.
Resources:
Genetic and Rare Diseases Information Center
Revised September 2023
