Mutations in the vacuolar protein sorting 13 A (VPS13A) gene, which mostly lead to the absence of the protein (also known as chorein), are the cause of ChAc (Dobson-Stone et al., 2002, 2004; Rampoldi et al., 2001; Tomiyasu et al., 2011; Ueno et al., 2001). This evidence concerns the gene VPS13A and Choreoacanthocytosis.