Figure 2

Cerebral MRI (1.5 Tesla). (A) Cerebral MRI (T1 serie, midline sagittal) of the proband in Family 1 at the time of investigation. Severe atrophy of the whole cerebellum and the anterior part of the corpus callosum. (B) Same examination, but T2 axial scan at the level of the superior cerebellar peduncle. There is an atrophy of both cerebellar hemispheres with widened sulci, and vermis atrophy. The fourth ventricle is moderately dilated. There are a few diffuse hyperintensity signals in the brainstem. The cerebral hemispheres look normal.