Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14

To characterize the clinical features and neuropathology associated with recessive VAC14 mutations.Whole-exome sequencing was used to identify the genetic etiology of a rapidly progressive neurological disease presenting in early childhood in two deceased siblings with distinct neuropathological features on post mortem examination.We identified compound heterozygous variants in VAC14 in two deceased siblings with early childhood onset of severe,...