Figure 2
From: Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
Brain magnetic resonance imaging of the four patients. Hyperintensities in T2 (Flair 2a, 1b)-weighted images indicate pathology of basal ganglia (1a, 2a, 3a, 4a), thalamus (1a), and mesencephalon (1b). Cerebellar atrophy is shown on in 1b, 2b, 3b. The increased interfoliar spaces in 4b may be interpreted as early sign of cerebellar atrophy in the clinical context of patient 4. Hypertrophic degeneration of olivary nuclei are marked with red arrows in 1c, 2b and c (T1 signal hypointensity), 3b and c. It is not seen in 4b, c.