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Updated: Jul 31, 2025

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Quantitative Magnetic Resonance Imaging of Skeletal Muscle Disease
Published on: December 18, 2016
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Quantitative MRI in leukodystrophies
Menno D Stellingwerff1, Petra J W Pouwels2, Stefan D Roosendaal3
1Amsterdam UMC Location Vrije Universiteit Amsterdam, Child Neurology, Emma Children's Hospital, and Amsterdam Neuroscience, De Boelelaan 1117, Amsterdam, the Netherlands.
Neuroimage. Clinical
|May 7, 2023
Summary
Quantitative MRI offers objective outcome measures for leukodystrophy clinical trials by assessing white matter integrity. This review explores advanced magnetic resonance imaging (MRI) techniques for evaluating these rare genetic white matter diseases.
Area of Science:
- Neuroscience
- Radiology
- Genetics
Background:
- Leukodystrophies are a diverse group of progressive, often fatal genetic disorders impacting central nervous system white matter.
- Current therapeutic development for leukodystrophies necessitates objective, quantitative outcome measures for clinical trials.
Purpose of the Study:
- To review the current status, potential, and challenges of quantitative magnetic resonance imaging (MRI) techniques for leukodystrophies.
- To highlight the role of quantitative MRI in evaluating white matter microstructural properties and chemical composition noninvasively.
Main Methods:
- Exploration of various quantitative MRI techniques, assessing their developmental stages from clinical applicability to research settings.
- Focus on MRI methods providing insights into myelin and axonal content, condition, and white matter chemical composition.
Main Results:
- Quantitative MRI provides noninvasive, objective data on white matter microstructural integrity.
- Different MRI techniques offer varying levels of development and applicability in leukodystrophy research and clinical settings.
Conclusions:
- Quantitative MRI holds significant potential for evaluating and monitoring leukodystrophies in clinical trials.
- Further development and validation of specific MRI techniques are crucial for their widespread adoption in leukodystrophy management.

