Figure 1 | Human Genome Variation

Figure 1

From: A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation

Figure 1

Radiological findings and results of molecular analysis. (a–d) Axial magnetic resonance images examined at 27 years. T2-weighted axial images (a–c) and a fluid-attenuated inversion recovery image (d). (a) In the spinal cord, the posterior columns (yellow) and the lateral corticospinal tracts (red) are involved. (b) At the level of the pons, high signal intensity is shown in bilateral lesions in the pyramidal tracts (red), medial lemniscus (yellow), superior cerebellar peduncles (blue), and intraparenchymal trajectory of the trigeminal nerve (green). (c) At the level of the basal ganglia, the posterior limb of the internal capsule and periventricular white matter are affected. (d) High signal intensity is shown in the periventricular white matter associated with multiple small cysts. (e, f) Electropherograms of Sanger sequencing for the patient, his mother, and the sister. Although a c.228-20T>C polymorphism is shown in both the patient and his sister (e), c.228-15C>G is only present in the patient. c.358_359delinsTC (p.Gly120Ser) is commonly shown in all samples (f), and the affected amino acid is conserved among species (g).

Back to article page