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. 2012 Mar 9;90(3):467–477. doi: 10.1016/j.ajhg.2012.01.017

Figure 1.

Figure 1

Clinical and Neuroimaging Findings in Individuals with SLC30A10 Mutations

(A and G) Pedigrees of the Italian and the Dutch families. Black symbols denote affected individuals. The proband is indicated with an arrow.

(B–F) Brain MRI images in the individuals from the Italian family. In both brothers marked T1 hyperintensities, typically seen in persons with manganese intoxication, are present in MTC T1-weighted images in the globus pallidus, putamen, caudate nucleus, midbrain, and cerebellum, bilaterally (axial [B–C] and sagittal [E–F] images in individual SIE-03 [B and E] and SIE-02 [C and F]. In (D), a 3DFFET1-weighted, coronal oblique multiplanar reconstruction image shows hyperintensity along the cerebello-rubro-thalamic pathways in individual SIE-03.

(H and I) Brain MRI images in the individuals from the Dutch family. In individual NIJ005, marked hyperintensities are present in T1-weighted images in the globus pallidus, bilaterally (coronal image [H]); in individual NIJ010, T1-weighted images obtained around the time the manganese blood levels had returned at almost normal levels showed no obvious abnormalities (axial image shown in [I]).