Guo JF, Wang L, He D, Yang QH, Duan ZX, Zhang XW, Nie LL, Yan XX, Tang BS, Guo, Ji-feng, Wang, Lei, He, Dan, Yang, Qiao-hong Ou, Duan, Zhong-xiang, Zhang, Xue-wei, Nie, Li-luo, Yan, Xin-xiang, and Tang, Bei-sha
Mutations in the Parkin, PINK1, and DJ-1 genes can cause autosomal recessive early onset Parkinsonism. We studied three families with the mutations of the Parkin, PINK1 and DJ-1 genes, respectively, with a dopamine transporter ligand [(11)C]-CFT positron emission tomography. A marked bilaterally and dissymmetrically decrement of [(11)C]-CFT uptake was found in all these patients, and putamen as well as caudate nucleus was affected. We also found asymptomatic Parkin and PINK1 heterozygotes showed a mild but significant decrement in [(11)C]-CFT uptake, but this phenomenon was not found in the DJ-1-heterozygotes. Our results suggested the three autosomal recessive forms of early onset are similar to each other on pathophysiological grounds, a sub-clinical disease process in Parkin and PINK1-heterozygotes, but not in DJ-1-heterozygotes. [ABSTRACT FROM AUTHOR]