Journal
MOVEMENT DISORDERS
Volume 25, Issue 14, Pages 2434-2437Publisher
WILEY
DOI: 10.1002/mds.23106
Keywords
Parkinson's disease; gene risk factor; PARK9; lightscanner
Categories
Funding
- Japanese Ministry of Education, Culture, Sports, Science and Technology [08071510, 20790625, 17390256, 21591098]
- Japanese Ministry of Health, Labor and Welfare [21210301]
- Japanese Ministry of Health, Labour and Welfare, Health and Labour Sciences Research [H19-021, H20-015]
- Grants-in-Aid for Scientific Research [20790625, 17390256, 21591098] Funding Source: KAKEN
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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. (C) 2010 Movement Disorder Society
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