Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy.

ABSTRACT:

Objective

Metachromatic leukodystrophy (MLD) is a rare metabolic disorder leading to demyelination and rapid neurologic deterioration. As therapeutic options evolve, it seems essential to understand and quantify progression of the natural disease. The aim of this study was to assess cerebral volumetric changes in children with MLD in comparison to normal controls and in relation to disease course.

Method

Eighteen patients with late-infantile MLD and 42 typically developing children in the same age range (20-59 months) were analyzed in a cross-sectional study. Patients underwent detailed genetic, biochemical, electrophysiologic, and clinical characterization. Cerebral gray matter (GM) and white matter (WM) volumes were assessed by multispectral segmentation of T1- and T2-weig

SUBMITTER: Groeschel S 

PROVIDER: S-EPMC4098858 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature