Fig. 1.

Family pedigree and brain imaging. A Family Pedigree. B WES identified two variants in VPS13D gene [NM_015378.3] in trans in patient (II.4). The first one is a nonsense variant inherited from his mother (I.2): c.946C > T, p.Arg316*; the second one is a missense variant inherited from his father (I.1): c.12416C > T, p.(Ala4139Val). WT: wild-type. C Brain MRI sections with (C.a) midline sagittal T1 showing vermian atrophy, (C.b) axial T2 showing pontocerebellar and cerebellar atrophy, and (C.c) axial T2, showing frontal angioma therapy after-effects. (A) Anterior; (P) Posterior; (L) Left; (R) Right