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Rapid screening of ATP13A2 variant with high-resolution melting analysis

Authors

  • Manabu Funayama PhD,

    1. Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
    2. Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan
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  • Hiroyuki Tomiyama MD, PhD,

    1. Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
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  • Ruey-Meei Wu MD, PhD,

    1. Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan
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  • Kotaro Ogaki MD,

    1. Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
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  • Hiroyo Yoshino BS,

    1. Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan
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  • Yoshikuni Mizuno MD,

    1. Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan
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  • Nobutaka Hattori MD, PhD

    Corresponding author
    1. Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
    2. Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan
    • Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan
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  • Potential conflict of interest: Nothing to report.

Abstract

Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han-Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high-resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han-Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations. © 2010 Movement Disorder Society.

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