Marked Reduction in the Striatal Dopamine Transporter Uptake During the Early Stage of Motor Symptoms in Patients with the MAPT N279K Mutation

We herein report two patients harboring the mutation N279K in microtubule-associated protein tau (MAPT), who showed parkinsonism with a disease duration within three years from the onset, evaluated by dopamine transporter (DAT) [(123)I]N-ω-fluoroprophyl-2β-carbomethoxy-3β-(4-iodophenyl) tropane single-photon emission computed tomography. We performed a quantification analysis, comparing five age- and severity-matched PD patients and six normal controls. The patients with the N279K mutation showed a more marked reduction in their DAT densities, especially in the caudate nucleus and anterior putamen, than the others. An early marked reduction in the DAT densities in the caudate nucleus and anterior putamen may be an early biomarker of patients with MAPT mutations.