Article Figures & Data
Figures
- Fig 1.
SPM-t maps for patients with the 6-OPRI mutation compared with control participants. SPM-t maps showing significant differences between symptomatic patients with the 6-OPRI mutation (n = 9) and healthy control participants (n = 16) for family-wise error P < .05. A, gray matter: controls >6-OPRI, t ≥ 6.60. B, WM: controls >6-OPRI, t ≥ 6.07. C, MTR: controls >6-OPRI, t ≥ 6.86. D, MD (b = 1000 s/mm2): controls <6-OPRI, t ≥ 7.03. E, MD (b = 3000 s/mm2): controls <6-OPRI, t ≥ 6.96. The color bar represents the t value range.
- Fig 2.
Effect size maps for all patients compared with control participants and patients with 6-OPRI compared with control participants. Effect size maps demonstrating the percentage difference between patients with 6-OPRI and controls in (A) gray matter volume and (B) WM volume calculated as 100*(controls-all patients)/controls displayed in the Montreal Neurological Institute space.
Tables
Control Group 6-OPRI Group P Value N 16 (8 M) 9 (4 M) − Age (y) 37.1 ± 10.7 38.1 ± 3.6 ns MMSE 30 (30–30) 19 (11–27) <.001 CDR − 8 (2–14) .002a Note:—CDR indicates Clinical Dementia Rating Scale; M, male; N, number; MMSE, Mini-Mental State Examination; ns, not significant (P≥0.1); 6-OPRI, 6-octapeptide repeat insertion. Age values are mean ± SD. MMSE and CDR values are median (range).
↵a All comparisons were performed with the Mann-Whitney U test, except for CDR, for which the Wilcoxon test vs CDR = 0 was performed.
k Peak P Value (FWE corr) Peak T Peak Z x y z Description 175 <.001 10.59 6.16 −34 −4 −31 L temporal fusiform and parahippocampal gyri 176 .003 7.61 5.22 −52 −43 −3 L middle temporal gyrus .005 7.37 5.12 −56 −42 −12 L middle temporal gyrus 7 .017 6.66 4.83 −54 −29 −8 L middle temporal gyrus 6 .019 6.61 4.81 −39 −57 30 L angular gyrus 46 .006 7.25 5.08 −25 −31 −13 L hippocampus 45 .007 7.16 5.04 −26 −29 −8 L hippocampus and L parahippocampal gyrus .03 6.35 4.69 −20 −34 6 L thalamus 18 .035 6.27 4.66 −13 6 −3 L pallidum 97 .001 8.25 5.45 57 −35 −13 R middle temporal gyrus .017 6.67 4.83 49 −39 −9 R inferior temporal gyrus .018 6.66 4.83 47 −48 −11 R inferior temporal gyrus 148 .002 7.82 5.29 37 −12 −22 R temporal fusiform gyrus .003 7.72 5.26 37 −29 −13 R temporal fusiform gyrus 57 .009 7.01 4.98 26 −31 −6 R hippocampus 60 .012 6.86 4.92 13 8 −3 R pallidum 27 .004 7.58 5.21 2 −22 19 Midline-body of corpus callosum 3 .034 6.29 4.66 −5 −19 30 L body of corpus callosum 10 .022 6.54 4.78 5 −17 30 R body of corpus callosum Note:—FWE corr indicates family-wise error corrected; L, left; MNI, Montreal Neurological Institute; R, right. k is the number of voxels within each cluster. All clusters of voxels above a voxel-level threshold FWE P ≤ .05 of size k > 2 are shown. For the largest clusters, the table shows up to 3 local maxima more than 8 mm apart. The x, y, and z coordinates are in the MNI space. Peak-t and Peak-z values are within each cluster.
- Table 3:
Mean values for tissue segment volumes, MTR, MD (b = 1000 s/mm2), and MD (b = 3000 s/mm2) in selected ROIs
Brain Region Control Group 6-OPRI Group P Valueb Right thalamus WM (tv)a 0.66 ± 0.07 0.57 ± 0.05 .002 MTR (%) 40.6 ± 1.2 38.9 ± 1.1 .002 MD1K (×10−3mm2/s) 0.81 ± 0.03 0.88 ± 0.05 <.001 MD3K (× 10−3mm2/s) 0.63 ± 0.01 0.67 ± 0.03 <.001 Right caudate GM (tv) 0.74 ± 0.07 0.50 ± 0.08 <.001 MTR (%) 37.6 ± 1.1 33.8 ± 2.2 <.001 MD1K (× 10−3mm2/s) 0.79 ± 0.03 0.88 ± 0.10 .001 MD3K (× 10−3mm2/s) 0.63 ± 0.02 0.64 ± 0.03 NS Right putamen GM (tv) 0.92 ± 0.12 0.60 ± 0.12 <.001 MTR (%) 38.6 ± 1.0 36.8 ± 1.1 .001 MD1k (× 10−3mm2/s) 0.78 ± 0.02 0.83 ± 0.07 .008 MD3k (× 10−3mm2/s) 0.65 ± 0.01 0.63 ± 0.03 .04 Note:—GM indicates gray matter; MD1k, mean diffusivity (b=1000 s/mm2); MD3k, mean diffusivity (b=3000 s/mm2); NS, not significant (p ≥0.1); tv, modulated tissue segment fractional volume. Values are mean ± SD over subject group of the individual ROI means.
↵a WM is reported here because the SPM8 segmentation routine classifies the thalamus as a predominantly WM structure.
↵b P values are reported for the Mann-Whitney U test.
