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. 2018 Jul 24;91(4):e319–e330. doi: 10.1212/WNL.0000000000005869

Figure 2. Brain imaging.

Figure 2

Brain MRI of the affected siblings of family 1: (A–C) F1:V.5 (age 38 years) and (D–F) F1:V.6 (age 31 years). (A, B, D, E) Axial and (C and F) coronal fast spin echo T2 images document the absence of any gross anomaly (enlarged cisterna magna in patient F1:V.6), cortical/cerebellar atrophy, or iron accumulation in basal ganglia. Single-voxel proton magnetic resonance brain spectroscopy using intermediate echo time (144 milliseconds) in patient F1:V.5 documenting an inverted doublet of lactate at 1.33 ppm (G) visible at the level of the ventricular CSF (white arrow) and (H) barely visible in basal ganglia. (I) 99mTc-HMPAO SPECT transaxial images (from the vertex to the cerebellum) in patient F1:V.5 shows mild to moderate reduction in radiotracer uptake (hypoperfusion) in the right parietal cortex and in the right and left frontal cortices, as well as asymmetric radiotracer uptake in the cerebellar hemispheres (right < left). (J) In patient 2, mild reduction in radiotracer uptake (hypoperfusion) is documented in the right and left frontal cortices, but no perfusion asymmetry is seen in the cerebellar hemispheres.