Related Experiment Video
Updated: Jul 28, 2026
07:45
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
8.2K
T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic
Pascal Martin1, Gisela E Hagberg2,3, Thomas Schultz4
1Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. pascal.martin@med.uni-tuebingen.de.
Clinical Neuroradiology
|November 23, 2020
Summary
In late-infantile metachromatic leukodystrophy (MLD), T2-pseudonormalization in white matter (WM) indicates advanced disease. This MRI finding masks severe microstructural abnormalities, including myelin and neuronal loss.
Area of Science:
- Neurology
- Radiology
- Biochemistry
Background:
- T2-weighted signal hyperintensities in white matter (WM) are a key MRI finding in metachromatic leukodystrophy (MLD).
- Understanding the evolution of these hyperintensities is crucial for assessing disease progression and treatment efficacy.
Purpose of the Study:
- To describe and characterize T2-pseudonormalization in the advanced stage of late-infantile MLD.
- To investigate WM microstructure in areas exhibiting T2-pseudonormalization using multimodal MRI.
Main Methods:
- Quantified T2-hyperintensity volume in 27 children with late-infantile MLD.
- Conducted multimodal MRI (diffusion-weighted imaging, MRS, MWF, MTR, T1-mapping, QSM) on three children with advanced disease and T2-pseudonormalization.
Main Results:
- Observed normalization of T2-hyperintensities in cerebral WM in three advanced-stage MLD patients.
- Multimodal MRI revealed significantly decreased NAA, neurite density, MWF, MTR, and increased radial diffusivity in T2-pseudonormalized areas.
Conclusions:
- T2-pseudonormalization in late-infantile MLD signifies severe WM microstructural abnormalities, including myelin and neuronal loss, gliosis, and storage material.
- Multimodal MRI protocols with specific microstructural parameters are recommended over T2-weighted sequences for evaluating MLD treatment trials.
