Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

ABSTRACT:

Introduction

We describe the natural history of patients with a Zellweger spectrum disorder (ZSD) surviving into adulthood.

Methods

Retrospective cohort study in patients with a genetically confirmed ZSD.

Results

All patients (n = 19; aged 16-35 years) had a follow-up period of 1-24.4 years (mean 16 years). Seven patients had a progressive disease course, while 12 remained clinically stable during follow-up. Disease progression usually manifests in adolescence as a gait disorder, caused by central and/or peripheral nervous system involvement. Nine were capable of living a partly independent life with supported employment. Systematic MRI review revealed T2 hyperintense white matter abnormalities in the hilus of the dentate nucleus and/or peridentate region in nine out

SUBMITTER: Berendse K 

PROVIDER: S-EPMC4710674 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature