Abstract
Multiple system atrophy (MSA) is a progressive neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. We previously showed that several patients from multiplex families with MSA carried biallelic variants in COQ2; furthermore, the carrier frequency of the V393A variant in COQ2 was significantly higher in patients with sporadic MSA than that in controls in Japan. Subsequent replication studies were conducted mainly in East Asia, and a meta-analysis integrating these results finally established COQ2 as a susceptibility gene for MSA. Furthermore, lower levels of coenzyme Q10 (CoQ10) in the blood, cerebrospinal fluid, fibroblasts, and cerebellar tissues have been reported in patients with MSA, than in controls. These results may suggest that CoQ10 supplementation could prove to be a therapeutic intervention in MSA.
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