ChAc follows an autosomal recessive inheritance pattern and fifty-five mutations were reported up to date as pathogenic or likely pathogenic in the VPS13A gene on the Clinvar web site (ncbi.nlm.nih.gov/clinvar) from which 29 were duplications, 17 INDEL mutations and 9 were single nucleotide variations (SNV). The gene discussed is VPS13A; the disease is Choreoacanthocytosis.