Figure 1 Reduced pedigrees of the 11 PFBC families with MYORG mutations. Arrow = proband; asterisk = DNA available; ... Figure 1 Reduced pedigrees of the.

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Figure 1 Reduced pedigrees of the 11 PFBC families with MYORG mutations. Arrow = proband; asterisk = DNA available; ... Figure 1 Reduced pedigrees of the 11 PFBC families with MYORG mutations. Arrow = proband; asterisk = DNA available; square = male; circle = female; diamond = male(s) or female(s); strikethrough = deceased individual; filled symbols = PFBC-affected individual; open symbols = relative assumed to be healthy; double dagger = relative with non-extensive brain calcifications. 001 = ID number; values in parentheses = age at onset; WT = reference allele. Unless provided in the caption above, the following copyright applies to the content of this slide: © The Author(s) (2019). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.comThis article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model) Brain, awz095, https://doi.org/10.1093/brain/awz095 The content of this slide may be subject to copyright: please see the slide notes for details.

Figure 2 Distribution of MYORG mutations on the protein, modified from Yao et al. (2018). The MYORG protein contains a ... Figure 2 Distribution of MYORG mutations on the protein, modified from Yao et al. (2018). The MYORG protein contains a short cytoplasm domain, a transmembrane fragment (black) and a long C-terminal luminal fragment with a glycosidase domain (striped area). Mutations reported in Yao et al. are represented at the top in grey, whereas mutations reported here are represented at the bottom, in black. Unless provided in the caption above, the following copyright applies to the content of this slide: © The Author(s) (2019). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.comThis article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model) Brain, awz095, https://doi.org/10.1093/brain/awz095 The content of this slide may be subject to copyright: please see the slide notes for details.

Figure 3 Calcifications scores of the MYORG patients compared to the AD-PFBC groups. (A) Heat map of the ascending ... Figure 3 Calcifications scores of the MYORG patients compared to the AD-PFBC groups. (A) Heat map of the ascending hierarchical clustering of the calcification scores. All scores of right and left structures were summed (e.g. left lenticular nucleus plus right lenticular nucleus). Scores of the unique regions were doubled (vermis, pons, medulla) as well as the score of the cortex. In the upper part of the figure, the age of the patients when the CT scan was performed appear with colours corresponding to the genes: blue (PDGFRB), green (PDGFB), red (SLC20A2), black (XPR1) and purple (MYORG). SCWM = subcortical white matter. (B) Total calcification score (TCS) of all patients with available CT scan, according to the age at CT scan. The TCSs of MYORG patients were higher than those of SLC20A2 patients (P = 4.1 × 10<sup>−3</sup>), of PDGFB patients (P = 3.2 × 10<sup>−6</sup>), PDGFRB patients (P = 8.3 × 10<sup>−13</sup>) and XPR1 patients (but not statistically significant, P = 0.089). Unless provided in the caption above, the following copyright applies to the content of this slide: © The Author(s) (2019). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.comThis article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model) Brain, awz095, https://doi.org/10.1093/brain/awz095 The content of this slide may be subject to copyright: please see the slide notes for details.

Figure 4 Brainstem calcifications and cerebellar atrophy on CT scan in patients carrying MYORG mutations. (A) CT scan ... Figure 4 Brainstem calcifications and cerebellar atrophy on CT scan in patients carrying MYORG mutations. (A) CT scan of Patient 321–001; (B) CT scan of Patient 321–003; (C) CT scan of Patient 439–001; (D) CT scan of Patient 428–001; (E) CT scan of Patient 1162–001, (F) CT scan of Patient 753–001; and (G) CT scan of Patient 695–001. Unless provided in the caption above, the following copyright applies to the content of this slide: © The Author(s) (2019). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.comThis article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model) Brain, awz095, https://doi.org/10.1093/brain/awz095 The content of this slide may be subject to copyright: please see the slide notes for details.

Figure 5 VBM analysis showing SPMs of structural differences in grey matter between MYORG and AD-PFBC gene mutation ... Figure 5 VBM analysis showing SPMs of structural differences in grey matter between MYORG and AD-PFBC gene mutation carriers. Analysis was performed using normalized T<sub>1</sub>-weighted MRI scans in MNI space, taking total intracranial volume, age and sex as covariates. SPMs were superimposed on a normalized T<sub>1</sub>-weighted mean image of all patients and thresholded at P < 0.001 uncorrected. Grey matter differences are colour coded (red-yellow) in terms of t-score as indicated on the colour bar (right). Unless provided in the caption above, the following copyright applies to the content of this slide: © The Author(s) (2019). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.comThis article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model) Brain, awz095, https://doi.org/10.1093/brain/awz095 The content of this slide may be subject to copyright: please see the slide notes for details.