Notably, basal ganglia involvement was less frequent in subjects with NDUFA13 variants compared to other CI deficiency disorders, i.e. 25% versus 90% of cases reported by Lebre et al. 20 Moreover, while cerebellar cortical involvement is more common in Leigh syndrome due to variants in mtDNA genes,19,20 we found mild cerebellar atrophy in about 40% of NDUFA13 cases after the age of 5 years. Here, NDUFA13 is linked to Leigh syndrome.