The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson’s disease

Abstract The association between idiopathic Parkinson’s disease (PD) and the ATP13A2 ( PARK9 ) Ala746Thr variant, associated with Kufor-Rakeb syndrome, is controversial. We investigated this association in 69 patients with early onset PD (EOPD; ≦50 years of age), 192 patients with late onset PD (LOPD; >50 years of age), and 180 healthy controls in the Chinese population in Hong Kong. The presence of the Ala746Thr variant in the ATP13A2 locus was examined in all participants. We detected the heterozygous Ala746Thr variant in one healthy control (0.6%), one patient with EOPD (1.4%, p = 0.50), and one patient with LOPD (0.5%, p = 0.96). We suggest that the ATP13A2 Ala746Thr variant is not a common risk factor for PD in the Chinese population in Hong Kong.