Genetic analysis of ATP10B for Parkinson's disease in Japan

Compound heterozygosity of ATP10B is thought to be a risk factor for young-onset Parkinson's disease (PD). We genetically screened 245 patients with young-onset sporadic PD and 33 patients with autosomal recessive PD for ATP10B. All 13 identified gene variants were heterozygous with little evidence of the pathogenicity.

Automated summary

Compound heterozygosity of ATP10B is considered a risk factor for young-onset Parkinson's disease, but genetic screening in this study found little evidence of pathogenicity for the identified gene variants in patients with young-onset sporadic PD and autosomal recessive PD.