For clarity VPS13A is further referred to as hVPS13A. Mutations in hVPS13A coding for the hVps13A protein, also named chorein, are the cause of a rare autosomal disorder, chorea-acanthocytosis (ChAc; OMIM 200150) (2), characterized by adult-onset chorea, progressive neurodegeneration and abnormal erythrocyte morphology - acanthocytosis. Here, VPS13A is linked to Choreoacanthocytosis.