AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

ABSTRACT:

Objective

To describe the clinico-radiological phenotype of 3 patients harboring a homozygous novel AP4M1 pathogenic mutation.

Methods

The 3 patients from an inbred family who exhibited early-onset developmental delay, tetraparesis, juvenile motor function deterioration, and intellectual deficiency were investigated by magnetic brain imaging using T1-weighted, T2-weighted, T2*-weighted, fluid-attenuated inversion recovery, susceptibility weighted imaging (SWI) sequences. Whole-exome sequencing was performed on the 3 patients.

Results

In the 3 patients, brain imaging identified the same pattern of bilateral SWI hyposignal of the globus pallidus, concordant with iron accumulation. A novel homozygous nonsense mutation was identified in AP4M1, segregating wi

SUBMITTER: Roubertie A 

PROVIDER: S-EPMC5820597 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature