Quantitative MRI in leukodystrophies

Menno D. Stellingwerff, Petra J.W. Pouwels, Stefan D. Roosendaal, Frederik Barkhof, Marjo S. van der Knaap*

*Corresponding author for this work

Research output: Contribution to JournalReview articleAcademicpeer-review

Abstract

Leukodystrophies constitute a large and heterogeneous group of genetic diseases primarily affecting the white matter of the central nervous system. Different disorders target different white matter structural components. Leukodystrophies are most often progressive and fatal. In recent years, novel therapies are emerging and for an increasing number of leukodystrophies trials are being developed. Objective and quantitative metrics are needed to serve as outcome measures in trials. Quantitative MRI yields information on microstructural properties, such as myelin or axonal content and condition, and on the chemical composition of white matter, in a noninvasive fashion. By providing information on white matter microstructural involvement, quantitative MRI may contribute to the evaluation and monitoring of leukodystrophies. Many distinct MR techniques are available at different stages of development. While some are already clinically applicable, others are less far developed and have only or mainly been applied in healthy subjects. In this review, we explore the background, current status, potential and challenges of available quantitative MR techniques in the context of leukodystrophies.

Original languageEnglish
Article number103427
Pages (from-to)1-13
Number of pages13
JournalNeuroImage: Clinical
Volume38
Early online date3 May 2023
DOIs
Publication statusPublished - 2023

Bibliographical note

Publisher Copyright:
© 2023 The Author(s)

Keywords

  • Leukodystrophies
  • Myelin imaging
  • Quantitative MRI
  • White matter disorders

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