Fig. 1: PET imaging of the RELN-COLBOS (H3447R) carrier.
From: Resilience to autosomal dominant Alzheimer’s disease in a Reelin-COLBOS heterozygous man
a, Representative PiB PET amyloid and FTP Tau PET imaging of the male case with RELN-COLBOS (left) compared to a PSEN1-E280A mutation carrier with MCI at a typical age (right). For both measurements, specific binding of the tracer is represented using a color-coded scale with blue being the lowest (DVR or SUVR = 0.8) and red being the highest (DVR or SUVR = 2.00) degree of binding. Right, representative FDG PET precuneus cerebral metabolic rate for glucose (CMRgI) of the male case with RELN-COLBOS (left) compared to a PSEN1-E280A carrier with MCI at a typical age (right). Binding affinity of the dye is represented using a color-coded scale with blue being the lowest (SUVR = 0.5) and red being the highest (SUVR = 2.1) degree of binding. PHF, paired helical filament. b, Dot plot analysis of the imaging measurements shown in a for amyloid and Tau burden, glucose metabolism and hippocampal volume. Brain imaging measurements of the male case with RELN-COLBOS (red dot) compared to the previously published APOECh homozygote female (blue dot), unimpaired PSEN1-E280A carriers (gray dots, n = 18 for the glucose metabolism panel, n = 13 for all other panels) and younger carriers of the MCI PSEN1-E280A mutation (black dots, n = 7 for the Tau burden plot, n = 8 for the amyloid burden and hippocampal volume plots, n = 11 for glucose metabolism)2. Some previously published data points are included in the figures because they are the only available data for comparison2. Data are expressed as individual values with the mean ± s.e.m. c, Anatomical details of Tau burden in the temporal cortex. Flat map representations of the right hemisphere temporal lobe cortex for regions of interest (ROIs) (top left, ERC), with Tau PET (FTP) overlay for four cases. The asymptomatic PSEN1-E280A carrier was 38 years old; the PSEN1-E280A carrier with typical MCI was 44 years old. The male carrier of RELN-COLBOS was notable for having relatively lower Tau burden in the medial temporal regions (ERC and PPC), compared to typical PSEN1-E280A mutation carriers.
