Fig. 1.

T1-weighted midline sagittal MRI scans of the two siblings with COQ8A mutations. (a) Scan of the oldest sibling at 2 years and 2 months of age demonstrating a small cerebellar vermis; (b) follow-up scan of the older sibling at age 7 years and 9 months demonstrating progressive loss of volume of the cerebellar vermis and thinning of the folia consistent with an atrophic mechanism underlying her ataxic presentation; (c) scan of the younger sibling at age 2 years and 2 months demonstrating moderate volume loss in the cerebellar vermis and increased spaces between the folia