Fig. 2.

Genetic analysis of GBA and dopamine-transporter imaging. Direct polymerase chain reaction sequencing revealed double mutations of S271G (p.Ser310Gly) and R359X (p.Arg398Term) in GBA in patient 1, and the R359X mutation in patient 2 (A). ¹⁸F-FP-CIT PET revealed decreased uptake of dopamine transporter in the posterior portion of bilateral putamen, which was more severe on the right side (B). GBA: β-glucocerebrosidase, ¹⁸F-FP-CIT: ¹⁸F-fluoropropy-lcarbomethoxyiodophenylnortropane, PET: positron-emission tomography.