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Article
Open AccessInventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
For decades, early allogeneic stem cell transplantation (HSCT) has been used to slow neurological decline in metachromatic leukodystrophy (MLD). There is lack of consensus regarding who may benefit, and guidel...
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Article
Open AccessModified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
Metachromatic Leukodystrophy (MLD) is a rare lysosomal disorder. Patients suffer from relentless neurological deterioration leading to premature death. Recently, new treatment modalities, including gene therap...
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Article
Open AccessT2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic Leukodystrophy
T2-weighted signal hyperintensities in white matter (WM) are a diagnostic finding in brain magnetic resonance imaging (MRI) of patients with metachromatic leukodystrophy (MLD). In our systematic investigation ...
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Article
Open AccessThe impact of severe rare chronic neurological disease in childhood on the quality of life of families—a study on MLD and PCH2
Rare and severe neurological disorders in childhood not only heavily affect the life perspective of the patients, but also their caregivers and families. The aim of this study was to investigate the impact of ...
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Article
Open AccessNatural history of Krabbe disease – a nationwide study in Germany using clinical and MRI data
Krabbe disease or globoid cell leukodystrophy is a severe neurodegenerative disorder caused by a defect in the GALC gene leading to a deficiency of the enzyme ß-galactocerebrosidase. The aim of this work was to d...
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Article
Open AccessEarly clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy
Long-term outcomes of hematopoietic stem cell transplantation (HSCT) in children with juvenile metachromatic leukodystrophy (MLD) have been investigated systematically, while short-term effects of HSCT on the ...
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Article
Open AccessPhenotypic variation between siblings with Metachromatic Leukodystrophy
Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene. While interventional trials often use untreated siblings as controls, the genotype...
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Article
Role of presurgical functional MRI and diffusion MR tractography in pediatric low-grade brain tumor surgery: a single-center study
Presurgical functional MRI (fMRI) and diffusion MRI tractography (dMRI tractography) are widely employed to delineate eloquent brain regions and their connections prior to brain tumor resection in adults. Howe...
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Chapter and Conference Paper
Better Fiber ODFs from Suboptimal Data with Autoencoder Based Regularization
We propose a novel way of estimating fiber orientation distribution functions (fODFs) from diffusion MRI. Our method combines convex optimization with unsupervised learning in a way that preserves the relative...
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Article
Versatile, robust, and efficient tractography with constrained higher-order tensor fODFs
Develop a multi-fiber tractography method that produces fast and robust results based on input data from a wide range of diffusion MRI protocols, including high angular resolution diffusion imaging, multi-shel...
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Article
Open AccessBrain morphometry in Pontocerebellar Hypoplasia type 2
Pontocerebellar hypoplasia type 2 (PCH2) is caused by a defect in the TSEN54-gene and leads to severe and early disruption of brain development, especially of cerebellum and pons. The aim of this work was to quan...
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Chapter and Conference Paper
Fast and Accurate Multi-tissue Deconvolution Using SHORE and H-psd Tensors
We propose a new regularization for spherical deconvolution in diffusion MRI. It is based on observing that higher-order tensor representations of fiber ODFs should be H-psd, i.e., they should have a positive ...
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Article
Open AccessLanguage and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort
Metachromatic leukodystrophy (MLD) is a rare, genetic neurodegenerative disease. It leads to progressive demyelination resulting in regression of development and early death. With regard to experimental therap...
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Chapter and Conference Paper
Auto-calibrating Spherical Deconvolution Based on ODF Sparsity
Spherical deconvolution models the diffusion MRI signal as the convolution of a fiber orientation density function (fODF) with a single fiber response. We propose a novel calibration procedure that automatical...
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Article
Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course
Metachromatic Leukodystrophy (MLD) is a rare disorder leading to demyelination and neurological impairment. A natural history study within the German leukodystrophy network analyzed MRI changes with respect to...
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Article
Virchow-Robin spaces on magnetic resonance images: normative data, their dilatation, and a review of the literature
Virchow-Robin spaces (VRS) are perivascular spaces in the brain and can be visualized on magnetic resonance images (MRI). We attempt to provide a better understanding of the significance of VRS for pathologica...
