Fig. 1

Clinical overview of the patients who presented with parkinsonism and progressive respiratory failure. a Our patient is shown as the proband (II-2) with an arrow. Patients with parkinsonism are shown as a filled circle or square for the proband and her elder brother (II-1), respectively. Her fourth (III-4) and fifth (III-5) children were conjoined twins and aborted before being delivered. Oblique lines indicate death. b T1- and T2-weighted brain magnetic resonance images (Siemens Magnetom Skyra 3.0 T) show mild atrophy in the midbrain, hippocampus, and temporal lobes, where marked with arrows. c I¹²³-IMP brain single photon emission computed tomography indicates decreased blood flow in the anterior and medial regions of the left temporal lobes as marked with arrows. d The radioactivity in the bilateral putamen of dopamine transporter scintigraphy is depleted and is depicted as dot-like shapes (the specific binding ratio values using the Tossici-Bolt method were 1.72 for the right striatum and 1.62 for the left striatum). Abbreviations: T1WI, T1-weighted brain magnetic resonance images; T2WI, T2-weighted brain magnetic resonance images; A, anterior; P, posterior; R, right; L, left