Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy

Gieselmann, Volkmar; Wenger, David A.; Krägeloh‐Mann, Ingeborg

doi:10.1002/9781119697312.ch12

Cited by 1 publication

(2 citation statements)

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“…Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder and results in progressive sulfatide deposition in cells due to a deficiency of the sulfatide degrading enzyme Arylsulfatase A. The increasing sulfatide load causes cellular dysfunction and leads to progressive demyelination in the central and peripheral nervous system, with negative consequences for motor and cognitive skills of the patients 1,2 . As a reflection of demyelination, brain MRI shows confluent periventricular T2 hyperintensities, whose extension correlate to a certain extent with the clinical course 3 .…”

Section: Introductionmentioning

confidence: 99%

“…The increasing sulfatide load causes cellular dysfunction and leads to progressive demyelination in the central and peripheral nervous system, with negative consequences for motor and cognitive skills of the patients. 1,2 As a reflection of demyelination, brain magnetic resonance imaging (MRI) shows confluent periventricular T2 hyperintensities, whose extension correlates to a certain extent with the clinical course. 3 Cognitive involvement has been shown to be primarily associated with T2 hyperintensities in the frontal white matter (FWM), while motor deficits are associated with signal abnormalities in the central region (CR).…”

Section: Introductionmentioning

confidence: 99%

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Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy

et al. 2023

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Background and Purpose: Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to progressive demyelination and, consecutively, to cognitive and motor decline. Brain MRI can detect affected white matter as T2 hyperintense 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. Materials and Methods: MR diffusion parameters (ADC and FA) were in the frontal white matter (FWM), central region (CR) and posterior limb of the internal capsule (PLIC) in 111 MR data sets 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-organised tissue like 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 metachromatic leukodystrophy. Therefore, it provides additional quantifiable information to established methods such as T2 hyperintensity.

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Section: Introductionmentioning

confidence: 99%