Figure 1 | Genetics in Medicine

Figure 1

From: Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

Figure 1

Clinical presentation of the proband. (a,b) Magnetic resonance imaging. (a) (Left) Sagittal T1-weighted axial images of the patient at the age of 1 year showing cerebellar atrophy particularly prominent in the vermis. Supratentorial brain architecture is normal with a complete corpus callosum although appearing slightly thin. (Right) T2-weighted axial image of the patient at the same age, confirming cerebellar atrophy with prominent cerebellar folia also mainly localized in the vermis. (b) Corresponding pictures from control child, 18 months of age. (c) Photopic, scotopic, maximal, and flicker responses on electroretinogram from the affected child compared with responses obtained in the same conditions from a 2-year-old control child. An amplitude deficit can be observed for photopic as well as scotopic responses. At the same scale, the amplitude deficit is obvious between the recordings made at 6 months (upper traces) and 24 months (middle traces) compared with the control subject (lower traces).

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