Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy.

Autor:	Amedick LB; Department of Pediatric Neurology and Developmental Medicine, University of Tuebingen, Tuebingen, Germany., Martin P; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University Hospitals Tubingen, Tubingen, Germany., Beschle J; Department of Pediatric Neurology and Developmental Medicine, University Hospital Tübingen, Tuebingen, Germany., Strölin M; Department of Pediatric Neurology and Developmental Medicine, University of Tuebingen, Tuebingen, Germany., Wilke M; Department of Pediatric Neurology, Children's Hospital, Tübingen, Germany., Wolf N; Department of Child Neurology, Amsterdam UMC Locatie VUmc, Amsterdam, The Netherlands., Pouwels P; Department of Radiology and Nuclear Medicine, Amsterdam UMC Locatie VUmc, Amsterdam, Noord-Holland, The Netherlands., Hagberg G; Max-Planck-Institut für Biologische Kybernetik, Tubingen, Baden-Württemberg, Germany., Klose U; Department of Diagnostic and Interventional Neuroradiology, Radiological Clinic, University of Tübingen, Tübingen, Germany., Naegele T; Department für Diagnostische und Interventionelle Neuroradiologie, Universitätsklinikum Tübingen, Tubingen, Baden-Württemberg, Germany., Kraegeloh-Mann I; Kinderklinik - University Tübingen, Tübingen, Germany., Groeschel S; Department of Pediatric Neurology and Developmental Medicine, University of Tuebingen, Tuebingen, Germany.
Jazyk:	angličtina
Zdroj:	Neuropediatrics [Neuropediatrics] 2023 Aug; Vol. 54 (4), pp. 244-252. Date of Electronic Publication: 2023 Apr 13.
DOI:	10.1055/a-2073-4178
Abstrakt:	Background: Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to progressive demyelination and, consecutively, to cognitive and motor decline. Brain magnetic resonance imaging (MRI) can detect affected white matter as T2 hyperintense areas but cannot quantify the gradual microstructural process of demyelination more accurately. Our study aimed to investigate the value of routine MR diffusion tensor imaging in assessing disease progression. Methods: MR diffusion parameters (apparent diffusion coefficient [ADC] and fractional anisotropy [FA]) were in the frontal white matter, central region (CR), and posterior limb of the internal capsule in 111 MR datasets from a natural history study of 83 patients (age: 0.5-39.9 years; 35 late-infantile, 45 juvenile, 3 adult, with clinical diffusion sequences of different scanner manufacturers) as well as 120 controls. Results were correlated with clinical parameters reflecting motor and cognitive function. Results: ADC values increase and FA values decrease depending on disease stage/severity. They show region-specific correlations with clinical parameters of motor and cognitive symptoms, respectively. Higher ADC levels in CR at diagnosis predicted a disease course with more rapid motor deterioration in juvenile MLD patients. In highly organized tissues such as the corticospinal tract, in particular, diffusion MR parameters were highly sensitive to MLD-associated changes and did not correlate with the visual quantification of T2 hyperintensities. Conclusion: Our results show that diffusion MRI can deliver valuable, robust, clinically meaningful, and easily obtainable/accessible/available parameters in the assessment of prognosis and progression of MLD. Therefore, it provides additional quantifiable information to established methods such as T2 hyperintensity. Competing Interests: S.G. received institutional research support from Shire/Takeda, outside of the submitted work. He is an advisor and co-investigator for trials in Metachromatic Leukodystrophy (Shire/Takeda, Orchard, Bioclinica), but receives no personal payment related to this role. N.W. is advisor and/or co-investigator for trials in Metachromatic Leukodystrophy and other leukodystrophies (Shire/Takeda, Orchard, Ionis, PassageBio, Vigil Neuro), but receives no personal payment related to this role. P.M. has received honorary as an advisory board member from Biogen.The other authors declare that they have no conflict of interest. (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).)
Databáze:	MEDLINE
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