Figure 2.

Radiographic Studies

(A) Axial and sagittal T1-weighted images of the brain from affected individual 1:II-1 at 7 months (top) and 21 months (bottom) of age show moderate cerebellar predominant volume loss, which appears mildly progressive between the two exams, as well as mild cerebral atrophy with resultant enlargement of the ventricles. There is no brainstem atrophy.

(B) Sagittal T1- and coronal T2-weighted images of the brain from affected individual 2:II-1 at 6 days of age show severe cerebellar and moderate cerebral and brainstem atrophy. A radiograph of the right leg also shows a mid-femoral fracture.

(C) Two axial CT images of the brain from affected individual 3:II-1 at 9 months of age show mild prominence of the sulci and ventricles reflecting mild atrophy both above and below the tentorium.

(D) Sagittal T1-weighted images of the brain from affected individual 4:II-1 at 6 months and 12 months of age show slightly progressive moderate cerebellar and cerebral atrophy. The brainstem is relatively spared.