Fig. 3

Brain abnormalities found in patients with mutations in DYNC1H1. The arrow in the figure points out the brain abnormality described in the figure legend. a Sagittal and b axial T1 weighted image of P6 at the age of 3 years showing normal brain anatomy. c Axial FLAIR sequences in P5 at 23 months-of-age showing periventricular lesions and cortical atrophy. d Sagittal T1 weighted MRI of P9 at the age of 7 years, revealed thinning of posterior body of corpus callosum. e Axial T2-weighted MRI of P9, revealed enlarged posterior horns of lateral ventricles and periatrial white matter volume loss. f Axial T2-weighted MRI of P9, indicating cortical heterotopia in left frontal deep white matter. g Sagittal, h coronal, and i axial T2-weighted MRI of P4 at the age of 7 months-of-age showing diffuse pachygyria with cortical thickness >10 mm with frontal and perisylvian predominance. j Sagittal and k transversal T2-weighted MRI of P7 at the age of 4 years showing an isolated dysplasia of the right cerebellum and cerebellar vermis with an enlargement of the fourth ventricle on the left and notably without the involvement of the pons or mesencephalon. l Transversal T2-weighted MRI of P5 at 23 months-of-age showing in contrast to k no vermis or ventricle enlargement. m Sagittal T2-weighted MRI of P10 at the age of 4 years showing brain stem hypoplasia. n Axial T2-weighted MRI of P10 showing bilateral temporal and parietal pachygyria reaching until dorsal part of the frontal lobe. o Axial T2-weighted MRI of P5 at 23 months-of-age showing cortical brain atrophy without pahygyria