Figure 3. MRI scans from patients with KIAA0586 mutations.
Magnetic resonance imaging (MRI) in a healthy individual and patients with KIAA0586 mutations showing thickened and mal-oriented superior cerebellar peduncle (upper, red ‘arrowheads’), deepened interpeduncular fossa and constituting the ‘molar tooth sign’ (red circle). In COR-354-2-3, the molar tooth sign was very mild, possibly due to suboptimal image averaging. Figure 3—figure supplement 1 shows the imaging phenotype of affected JS individual MTI-1944-2-1.
Figure 3—figure supplement 1. Imaging phenotype of affected JS individual MTI-1944-2-1 with KIAA0586 mutations.
MRI of individual MTI-1944 affected by KIAA0586 mutations causing JS. For the affected individuals, the diagnosis of JS was confirmed by the deepened interpeduncular fossa and abnormal superior cerebellar peduncles, showing the ‘molar tooth sign’ (red circle).