Mutation analysis of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism

Abstract

To investigate the mutation characteristics of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism (AREP). Mutations of ATP13A2 gene were screened by polymerase chain reaction combined with DNA direct sequencing in patients with familial AREP. No pathogenic mutations in ATP13A2 gene were detected in this group. Six reported polymorphisms were identified. They were IVS6+70A>G, IVS12+66A>G, m.1849C>T, IVS20-56 G>A, m2671C>T and m2824G>A. ATP13A2 gene mutations may be rare in Chinese patients with familial autosomal recessive early-onset parkinsonism.