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Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism

Authors

  • Ji-Feng Guo MD,

    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
    2. Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China
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  • Bin Xiao MD,

    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
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  • Bing Liao MD,

    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
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  • Xue-Wei Zhang MD,

    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
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  • Li-Luo Nie MD,

    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
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  • Yu-Hu Zhang MD,

    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
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  • Lu Shen MD,

    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
    2. Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China
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  • Hong Jiang MD,

    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
    2. Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China
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  • Kun Xia PhD,

    1. Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China
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  • Qian Pan PhD,

    1. National Laboratory of Medical Genetics of China, Changsha, Hunan, People's Republic of China
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  • Xin-Xiang Yan MD,

    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
    2. Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China
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  • Bei-Sha Tang MD

    Corresponding author
    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
    2. Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China
    3. National Laboratory of Medical Genetics of China, Changsha, Hunan, People's Republic of China
    • Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People's Republic of China
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Abstract

Autosomal recessive early-onset Parkinsonism (AREP) has been associated with mutations in the Parkin, PINK1, DJ-1, and ATP13A2 genes. We studied the prevalence of mutations in all four genes in 29 Chinese unrelated families with AREP using direct sequencing analysis and real-time quantitative PCR analysis assay. There are 14 families (48.3%) with mutations of Parkin gene, 2 families (6.9%) with mutations of PINK1 gene, and 1 family (3.4%) with mutation of DJ-1 gene. No pathogenic mutations in ATP13A2 gene were found in these families. Three Parkin gene mutations (c.G859T, c.1069-1074delGTGTCC, and c.T1422C) and one DJ-1 gene mutation (c.T29C) have not been reported previously. In conclusion, Parkin gene mutation is the most common pathogenic factor in Chinese patients with AREP. Mutations of DJ-1 and PINK1 gene are also found in Chinese families with AREP. Mutations in ATP13A2 gene may be rare in Chinese families with AREP. © 2008 Movement Disorder Society

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