Quantitative MRI in leukodystrophies

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 t...

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Main Authors: Menno D. Stellingwerff, Petra J.W. Pouwels, Stefan D. Roosendaal, Frederik Barkhof, Marjo S. van der Knaap
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:NeuroImage: Clinical
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S221315822300116X
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author Menno D. Stellingwerff
Petra J.W. Pouwels
Stefan D. Roosendaal
Frederik Barkhof
Marjo S. van der Knaap
author_facet Menno D. Stellingwerff
Petra J.W. Pouwels
Stefan D. Roosendaal
Frederik Barkhof
Marjo S. van der Knaap
author_sort Menno D. Stellingwerff
collection DOAJ
description 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.
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spelling doaj.art-ba943e402c6f45a5b26c86e2ccd3c6642023-06-15T04:55:58ZengElsevierNeuroImage: Clinical2213-15822023-01-0138103427Quantitative MRI in leukodystrophiesMenno D. Stellingwerff0Petra J.W. Pouwels1Stefan D. Roosendaal2Frederik Barkhof3Marjo S. van der Knaap4Amsterdam UMC Location Vrije Universiteit Amsterdam, Child Neurology, Emma Children’s Hospital, and Amsterdam Neuroscience, De Boelelaan 1117, Amsterdam, the NetherlandsAmsterdam UMC Location Vrije Universiteit Amsterdam, Department of Radiology and Nuclear Medicine, and Amsterdam Neuroscience, De Boelelaan 1117, Amsterdam, the NetherlandsAmsterdam UMC Location University of Amsterdam, Department of Radiology, Meibergdreef 9, Amsterdam, the NetherlandsAmsterdam UMC Location Vrije Universiteit Amsterdam, Department of Radiology and Nuclear Medicine, and Amsterdam Neuroscience, De Boelelaan 1117, Amsterdam, the Netherlands; University College London, Institutes of Neurology and Healthcare Engineering, London, UKAmsterdam UMC Location Vrije Universiteit Amsterdam, Child Neurology, Emma Children’s Hospital, and Amsterdam Neuroscience, De Boelelaan 1117, Amsterdam, the Netherlands; Vrije Universiteit Amsterdam, Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, De Boelelaan 1105, Amsterdam, the Netherlands; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S221315822300116XQuantitative MRIWhite matter disordersLeukodystrophiesMyelin imaging
spellingShingle Menno D. Stellingwerff
Petra J.W. Pouwels
Stefan D. Roosendaal
Frederik Barkhof
Marjo S. van der Knaap
Quantitative MRI in leukodystrophies
NeuroImage: Clinical
Quantitative MRI
White matter disorders
Leukodystrophies
Myelin imaging
title Quantitative MRI in leukodystrophies
title_full Quantitative MRI in leukodystrophies
title_fullStr Quantitative MRI in leukodystrophies
title_full_unstemmed Quantitative MRI in leukodystrophies
title_short Quantitative MRI in leukodystrophies
title_sort quantitative mri in leukodystrophies
topic Quantitative MRI
White matter disorders
Leukodystrophies
Myelin imaging
url http://www.sciencedirect.com/science/article/pii/S221315822300116X
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AT stefandroosendaal quantitativemriinleukodystrophies
AT frederikbarkhof quantitativemriinleukodystrophies
AT marjosvanderknaap quantitativemriinleukodystrophies