Figure 1.
Early-onset parkinsonism manifested in 2 siblings of a consanguineous Arab family
(A) Pedigree of the Arab family with 2 affected individuals (subjects III:1 and III:3) manifesting with young-onset parkinsonism with or without seizures and segregating the SGIP1 variant: NM_032291: c.2080T>G in an autosomal recessive mode of inheritance in the subjects who were sequenced (Figure 2A). The genotype (and carrier status) is mentioned below the tested participants. The index patient is marked with an arrow.
(B) Neuropsychological assessment (percentile scores of different cognitive domains) of the affected siblings subjects III:1 (red squares) and III:3 (blue diamonds) with recessive parkinsonism along with intellectual and cognitive dysfunction. Points: mean percentile score ± SD.
(C) Single-case voxel-wise analysis of FDG PET scans of the affected individuals subjects III:1 and III:3 with recessive parkinsonism showing abnormally increased (red-yellow, see color scale) and decreased (blue-green, see color scale) regional metabolism in the brain of each patient, compared to an age-matched healthy control (HC) group (n = 18). Significant voxels were displayed at a threshold of p < 0.01.
(D) Network analysis of the FDG PET scans of subjects III:1 (red squares) and III:3 (blue diamonds) showing that both patients exhibited characteristic expression (subject scores) of metabolic patterns for idiopathic Parkinson’s disease (PD), but not multiple system atrophy (MSA) and progressive supranuclear palsy (PSP), compared to the HC group (Box and Whisker plots; n = 18). PDRP and PDCP, PD-related motor and cognitive metabolic patterns; MSARP, MSA-related metabolic pattern; PSPRP, PSP-related metabolic pattern.