If we perform a meta-analysis of the results from our study, the other case–control studies [4, 13, 17, 18] and EVS data, pathologically-confirmed MSA is associated with COQ2 mutations previously found in primary CoQ10 deficiency-1 (2/361 vs 0/6356, p value =0.0029, Table 3); clinical MSA did not associate with those nine mutations. The gene discussed is COQ2; the disease is multiple system atrophy.