TY - JOUR
T1 - Quantitative MRI in leukodystrophies
AU - Stellingwerff, Menno D.
AU - Pouwels, Petra J.W.
AU - Roosendaal, Stefan D.
AU - Barkhof, Frederik
AU - van der Knaap, Marjo S.
N1 - Publisher Copyright:
© 2023 The Author(s)
PY - 2023
Y1 - 2023
N2 - 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.
AB - 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.
KW - Leukodystrophies
KW - Myelin imaging
KW - Quantitative MRI
KW - White matter disorders
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U2 - 10.1016/j.nicl.2023.103427
DO - 10.1016/j.nicl.2023.103427
M3 - Review article
C2 - 37150021
AN - SCOPUS:85162854778
SN - 2213-1582
VL - 38
SP - 1
EP - 13
JO - NeuroImage: Clinical
JF - NeuroImage: Clinical
M1 - 103427
ER -