Fig. 1

Clinical characterization in RRP12 homozygous carriers. (A) Family trees of the four probands (A.II.2 from Family A, B.II.1 from Family B, both sharing the same p.R520C homozygous variant, and C.II.1 and C.II.2, both being homozygous for the p.E477K variant, D.II.1 from family harboring the homozygous variant p.F778L). Affected individuals are symbols filled in black, whereas the arrows point to probands. Genotypes for the RRP12 variants are reported below the symbols representing each family member (mut = mutated, wt = wild type, unk = unknown). (B) Upper part of panels from cases A.II.2, B.II.1, and C.II.1: brain magnetic resonance imaging (MRI) (T2 FLAIR sequence) showing periventricular white matter hyperintensities along with basal ganglia hypointensities. In patient A.II.2, the arrow indicates a left-sided thalamic cyst. The lower part of the panel from cases A.II.2, B.II.1, C.II.2 and full panel from cases C.II.2 and D.II.1: brain computed tomography (CT) scan of each affected individual in this study showing extensive calcification in the dentate nuclei, basal ganglia, cerebellum, and supratentorial white matter in cases A.II.2, B.II.1, C.II.1, C.II.2, and faint bilateral lenticular calcifications in case D.II.1.