The identified clinical features of Parkinson's disease in homo-, heterozygous and digenic variants of PINK1

To investigate the prevalence and genotype-phenotype correlations of phosphatase tensin homolog induced putative kinase 1 (PINK1) variants in Parkinson's disease (PD) patients, we analyzed 1700 patients (842 familial PD 858 sporadic from Japanese origin). We screened entire exon exon-intron boundaries PINK1 using Sanger sequencing target by Ion torrent system. identified 30 with heterozygous variants, 3 homozygous digenic PINK1-PRKN. Patients presented a significantly younger age at onset than those variants. The allele frequency 50 years showed no differences. [123I]meta-iodobenzylguanidine (MIBG) myocardial scintigraphy indicated that half harboring decreased heart to mediastinum ratio (12/23). Our findings emphasize importance for broad spectrum clinical symptoms