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. 2014 Dec 4;95(6):708–720. doi: 10.1016/j.ajhg.2014.10.017

Figure 2.

Figure 2

Brain MRI of Affected Individuals #72425, #82790, and #75168

(A) MRI of individual #72425 shows small T2 hyperintensities in the anterior thalamus bilaterally (arrow).

(B) In individual #82790, T2-weighted MRI shows bilateral hyperintensities in the putamen (arrowhead) and weakly also in the anterior thalamus (arrow).

(C) T2-weighted MRI of individual #75168 shows pronounced bilateral hyperintensities affecting the whole thalamus (arrow, axial view at the left) and extending to the mesencephalon (arrowhead, sagittal view at the right).