While it was mild to moderate in most patients (89%) (figure 5B), patient P68 showed severe cerebellar atrophy already at 42 years of age after 10 years’ disease duration (figure 5C), and patient P23 exhibited no cerebellar atrophy at 62 years of age after 20 years' disease duration (figure 5D), thus highlighting the variable extent and temporal evolution of cerebellar atrophy in RFC1 disease. Here, RFC1 is linked to Cerebellar atrophy.