Figure 1 Brain MRI features in patients with deletions upstream of LMNB1 Brain MRI features in patients with deletions upstream of LMNB1 All images are.

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Figure 1 Brain MRI features in patients with deletions upstream of LMNB1 Brain MRI features in patients with deletions upstream of LMNB1 All images are T2-weighted. (A) Patient DEL1-1 had the most extensive changes. Very high SI in the frontal, parietal, occipital, and temporal white matter and even juxtacortical areas were pathologic (A.a–A.d). The periventricular area was less affected on SE images (A.a, A.b, arrows) but exhibited a very high signal on FLAIR images. The entire posterior limb of the internal capsule was pathologic (A.c, arrowhead). The corticospinal tract (open arrow) had a high SI also in the cerebral crura (A.d), pons (A.e), and pyramids of the medulla oblongata (A.f). High SI in the decussation of the superior cerebellar peduncles (A.d, open arrowhead) and in the middle cerebellar peduncles was observed (A.e, star). The splenium was thin and revealed a high T2 signal (not shown). Patients (B) DEL2-1 and (C) DEL3-1 have less extensive changes in lobar white matter (B.a–B.e, C.a–C.e). The periventricular area was less affected both in the SE and FLAIR images (B.a and B.b, C.a and C.b, arrows). High SI continued in the corticospinal tract (open arrows) in the internal capsule (B.c and C.c) and the cerebral crura in the mesencephalon (B.d and C.d). Diffusely increased SI was also present in the upper pons (B.e and C.e). Decussations of the superior cerebellar peduncles (B.d and C.d, open arrowhead) had a high SI (B.d and C.d, open arrow). Patient DEL2-1 had larger mesencephalic SI changes (B.d) compared with the other patients. This patient also had cerebral atrophy: very broad third ventricle (B.c), widened lateral ventricles (B.b), and cerebral sulci (B.a–B.e). (D) Patient DEL 3-2 had abnormalities distinct from other patients; the SI was very high locally in the posterior frontal lobes, including corticospinal tracts, on the SE images (D.a and D.b). On the FLAIR images, the central parts of the pathologic areas showed a low SI as a sign of a high fluid content. There were some small separate frontal and parietal lesions that may be of the same or another etiology, whereas very small occipital changes (D.c) were present. The high SI continued downward in the corticospinal tract (D.c and D.d, open arrows) until the cerebral crura but not further. Increased SI in the decussation of the superior cerebellar peduncles was observed (D.d, open arrowhead). FLAIR = fluid-attenuated inversion recovery; SE = conventional or turbo spin-echo sequence; SI = signal intensity. Bruce Nmezi et al. Neurol Genet 2019;5:e305 Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.