Abstract
Background: Multiple-system atrophy (MSA) is a neurodegenerative disease characterized by autonomic failure, parkinsonism and cerebellar ataxia. We previously reported that two mutated COQ2 alleles were associated with familial MSA and that heterozygous mutations of COQ2 were associated with sporadic MSA. COQ2 protein is an essential enzyme for the biosynthesis of coenzyme Q10 (CoQ10) that plays critical roles in mitochondrial aerobic energy production and antioxidative effect.
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