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

ABSTRACT:

Objective

To characterize the clinical features and neuropathology associated with recessive VAC14 mutations.

Methods

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.

Results

We identified compound heterozygous variants in VAC14 in two deceased siblings with early childhood onset of severe, progressive dystonia, and neurodegeneration. Their clinical phenotype is consistent with the VAC14-related childhood-onset, striatonigral degeneration recently described in two unrelated children. Post mortem examination demonstrated prominent vacuolation associated with degener

SUBMITTER: Stutterd C 

PROVIDER: S-EPMC5740235 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature