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4. Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction

Author

Wolf, Nicole I, Breur, Marjolein, Plug, Bonnie, Beerepoot, Shanice, Westerveld, Aimee S R, van Rappard, Diane F, de Vries, Sharon I, Kole, Maarten H P, Vanderver, Adeline, van der Knaap, Marjo S, Lindemans, Caroline A, van Hasselt, Peter M, Boelens, Jaap J, Matzner, Ulrich, Gieselmann, Volkmar, Bugiani, Marianna, Wolf, Nicole I, Breur, Marjolein, Plug, Bonnie, Beerepoot, Shanice, Westerveld, Aimee S R, van Rappard, Diane F, de Vries, Sharon I, Kole, Maarten H P, Vanderver, Adeline, van der Knaap, Marjo S, Lindemans, Caroline A, van Hasselt, Peter M, Boelens, Jaap J, Matzner, Ulrich, Gieselmann, Volkmar, and Bugiani, Marianna

Abstract

OBJECTIVE: In metachromatic leukodystrophy, a lysosomal storage disorder due to decreased arylsulfatase A activity, hematopoietic stem cell transplantation may stop brain demyelination and allow remyelination, thereby halting white matter degeneration. This is the first study to define the effects and therapeutic mechanisms of hematopoietic stem cell transplantation on brain tissue of transplanted metachromatic leukodystrophy patients.METHODS: Autopsy brain tissue was obtained from eight (two transplanted and six nontransplanted) metachromatic leukodystrophy patients, and two age-matched controls. We examined the presence of donor cells by immunohistochemistry and microscopy. In addition, we assessed myelin content, oligodendrocyte numbers, and macrophage phenotypes. An unpaired t-test, linear regression or the nonparametric Mann-Whitney U-test was performed to evaluate differences between the transplanted, nontransplanted, and control group.RESULTS: In brain tissue of transplanted patients, we found metabolically competent donor macrophages expressing arylsulfatase A distributed throughout the entire white matter. Compared to nontransplanted patients, these macrophages preferentially expressed markers of alternatively activated, anti-inflammatory cells that may support oligodendrocyte survival and differentiation. Additionally, transplanted patients showed higher numbers of oligodendrocytes and evidence for remyelination. Contrary to the current hypothesis on therapeutic mechanism of hematopoietic cell transplantation in metachromatic leukodystrophy, we detected no enzymatic cross-correction to resident astrocytes and oligodendrocytes.INTERPRETATION: In conclusion, donor macrophages are able to digest accumulated sulfatides and may play a neuroprotective role for resident oligodendrocytes, thereby enabling remyelination, albeit without evidence of cross-correction of oligo- and astroglia. These results emphasize the importance of immunomodul

Published
2020

5. Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction

Author

CTI Nierkens, SCT patientenzorg, Infection & Immunity, Regenerative Medicine and Stem Cells, Child Health, Cluster C, Metabole ziekten patientenzorg, Wolf, Nicole I., Breur, Marjolein, Plug, Bonnie, Beerepoot, Shanice, Westerveld, Aimee S.R., van Rappard, Diane F., de Vries, Sharon I., Kole, Maarten H.P., Vanderver, Adeline, van der Knaap, Marjo S., Lindemans, Caroline A., van Hasselt, Peter M., Boelens, Jaap J., Matzner, Ulrich, Gieselmann, Volkmar, Bugiani, Marianna, CTI Nierkens, SCT patientenzorg, Infection & Immunity, Regenerative Medicine and Stem Cells, Child Health, Cluster C, Metabole ziekten patientenzorg, Wolf, Nicole I., Breur, Marjolein, Plug, Bonnie, Beerepoot, Shanice, Westerveld, Aimee S.R., van Rappard, Diane F., de Vries, Sharon I., Kole, Maarten H.P., Vanderver, Adeline, van der Knaap, Marjo S., Lindemans, Caroline A., van Hasselt, Peter M., Boelens, Jaap J., Matzner, Ulrich, Gieselmann, Volkmar, and Bugiani, Marianna

Published
2020

6. Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction

Author

Wolf, Nicole I., primary, Breur, Marjolein, additional, Plug, Bonnie, additional, Beerepoot, Shanice, additional, Westerveld, Aimee S. R., additional, van Rappard, Diane F., additional, de Vries, Sharon I., additional, Kole, Maarten H. P., additional, Vanderver, Adeline, additional, van der Knaap, Marjo S., additional, Lindemans, Caroline A., additional, van Hasselt, Peter M., additional, Boelens, Jaap J., additional, Matzner, Ulrich, additional, Gieselmann, Volkmar, additional, and Bugiani, Marianna, additional

Published
2020
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7. Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants

Author

Hamilton, Eline M C, Tekturk, Pinar, Cialdella, Fia, van Rappard, Diane F, Wolf, Nicole I, Yalcinkaya, Cengiz, Çetinçelik, Ümran, Rajaee, Ahmad, Kariminejad, Ariana, Paprocka, Justyna, Yapici, Zuhal, Bošnjak, Vlatka Mejaški, van der Knaap, Marjo, S (the MLC Research Group, Including, Silvestri, Gabriella, UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, Neurology, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pediatric surgery, CCA - Cancer biology and immunology, and Amsterdam Reproduction & Development (AR&D)

Subjects
0301 basic medicine, MLC1, Male, Pathology, Internal capsule, International Cooperation, CHILDREN, Cell Cycle Proteins, 030105 genetics & heredity, LEUKODYSTROPHY, Severity of Illness Index, 0302 clinical medicine, Intellectual disability, Medicine and Health Sciences, Medicine, Stage (cooking), Child, Cerebral Cortex, medicine.diagnostic_test, Cysts, Magnetic Resonance Imaging, WHITE-MATTER DISORDERS, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Child, Preschool, Female, CURRENTS, medicine.medical_specialty, Megalencephalic leukoencephalopathy with subcortical cysts, Adolescent, DIAGNOSIS, Article, White matter, 03 medical and health sciences, Young Adult, Humans, Retrospective Studies, business.industry, MUTATIONS, Leukodystrophy, Membrane Proteins, Proteins, Magnetic resonance imaging, EDEMA, medicine.disease, GLIALCAM, Hereditary Central Nervous System Demyelinating Diseases, Cross-Sectional Studies, DEFECT, Mutation, Autism, Neurology (clinical), business, 030217 neurology & neurosurgery, MLC
Abstract

ObjectiveTo provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features.MethodsWe performed an international multi-institutional, cross-sectional observational study of the clinical and MRI characteristics in patients with genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians and retrospective chart review.ResultsWe included 204 patients with classic MLC, 187 of whom had recessive mutations in MLC1 (MLC1 variant) and 17 in GLIALCAM (MLC2A variant) and 38 patients with remitting MLC caused by dominant GLIALCAM mutations (MLC2B variant). We observed a relatively wide variability in neurologic disability among patients with classic MLC. No clinical differences could be identified between patients with MLC1 and MLC2A. Patients with MLC2B invariably had a milder phenotype with preservation of motor function, while intellectual disability and autism were relatively frequent. Systematic MRI review revealed no MRI features that distinguish between MLC1 and MLC2A. Radiologic improvement was observed in all patients with MLC2B and also in 2 patients with MLC1. In MRIs obtained in the early disease stage, absence of signal abnormalities of the posterior limb of the internal capsule and cerebellar white matter and presence of only rarefied subcortical white matter instead of true subcortical cysts were suggestive of MLC2B.ConclusionClinical and MRI features did not distinguish between classic MLC with MLC1 or GLIALCAM mutations. Absence of signal abnormalities of the internal capsule and cerebellar white matter are MRI findings that point to the remitting phenotype.

Published
2018
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9. Intrathecal baclofen in metachromatic leukodystrophy

Author

van der Veldt, Nikki, primary, van Rappard, Diane F, additional, van de Pol, Laura A, additional, van der Knaap, Marjo S, additional, van Ouwerkerk, Willem J R, additional, Becher, Jules G, additional, Wolf, Nicole I, additional, and Buizer, Annemieke I, additional

Published
2018
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10. Slowly Progressive Psychiatric Symptoms : Think Metachromatic Leukodystrophy

Author

van Rappard, Diane F., de Vries, Annelou L.C., Oostrom, Kim J., Boelens, Jaap Jan, Hollak, Carla E.M., van der Knaap, Marjo S., Wolf, Nicole I., van Rappard, Diane F., de Vries, Annelou L.C., Oostrom, Kim J., Boelens, Jaap Jan, Hollak, Carla E.M., van der Knaap, Marjo S., and Wolf, Nicole I.

Published
2018

12. Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

Author

UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, Hamilton, Eline M C, Tekturk, Pinar, Cialdella, Fia, van Rappard, Diane F, Wolf, Nicole I, Yalcinkaya, Cengiz, Çetinçelik, Ümran, Rajaee, Ahmad, Kariminejad, Ariana, Paprocka, Justyna, Yapici, Zuhal, Bošnjak, Vlatka Mejaški, van der Knaap, Marjo S, MLC Research Group, Nassogne, Marie-Cécile, UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, Hamilton, Eline M C, Tekturk, Pinar, Cialdella, Fia, van Rappard, Diane F, Wolf, Nicole I, Yalcinkaya, Cengiz, Çetinçelik, Ümran, Rajaee, Ahmad, Kariminejad, Ariana, Paprocka, Justyna, Yapici, Zuhal, Bošnjak, Vlatka Mejaški, van der Knaap, Marjo S, MLC Research Group, and Nassogne, Marie-Cécile

Abstract

OBJECTIVE: To provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features. METHODS: We performed an international multi-institutional, cross-sectional observational study of the clinical and MRI characteristics in patients with genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians and retrospective chart review. RESULTS: We included 204 patients with classic MLC, 187 of whom had recessive mutations in MLC1 (MLC1 variant) and 17 in GLIALCAM (MLC2A variant) and 38 patients with remitting MLC caused by dominant GLIALCAM mutations (MLC2B variant). We observed a relatively wide variability in neurologic disability among patients with classic MLC. No clinical differences could be identified between patients with MLC1 and MLC2A. Patients with MLC2B invariably had a milder phenotype with preservation of motor function, while intellectual disability and autism were relatively frequent. Systematic MRI review revealed no MRI features that distinguish between MLC1 and MLC2A. Radiologic improvement was observed in all patients with MLC2B and also in 2 patients with MLC1. In MRIs obtained in the early disease stage, absence of signal abnormalities of the posterior limb of the internal capsule and cerebellar white matter and presence of only rarefied subcortical white matter instead of true subcortical cysts were suggestive of MLC2B. CONCLUSION: Clinical and MRI features did not distinguish between classic MLC with MLC1 or GLIALCAM mutations. Absence of signal abnormalities of the internal capsule and cerebellar white matter are MRI findings that point to the remitting phenotype.

Published
2018

13. Slowly Progressive Psychiatric Symptoms: Think Metachromatic Leukodystrophy

Author

AIOS Psychiatrie, Infection & Immunity, SCT onderzoek, PMC Research, CTI Nierkens, van Rappard, Diane F., de Vries, Annelou L.C., Oostrom, Kim J., Boelens, Jaap Jan, Hollak, Carla E.M., van der Knaap, Marjo S., Wolf, Nicole I., AIOS Psychiatrie, Infection & Immunity, SCT onderzoek, PMC Research, CTI Nierkens, van Rappard, Diane F., de Vries, Annelou L.C., Oostrom, Kim J., Boelens, Jaap Jan, Hollak, Carla E.M., van der Knaap, Marjo S., and Wolf, Nicole I.

Published
2018

14. Diffusion tensor imaging in metachromatic leukodystrophy

Author

AIOS Psychiatrie, PMC Research, CTI Nierkens, van Rappard, Diane F., Königs, Marsh, Steenweg, Marjan E., Boelens, Jaap Jan, Oosterlaan, Jaap, van der Knaap, Marjo S., Wolf, Nicole I., Pouwels, Petra J.W., AIOS Psychiatrie, PMC Research, CTI Nierkens, van Rappard, Diane F., Königs, Marsh, Steenweg, Marjan E., Boelens, Jaap Jan, Oosterlaan, Jaap, van der Knaap, Marjo S., Wolf, Nicole I., and Pouwels, Petra J.W.

Published
2018

15. Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment

Author

AIOS Psychiatrie, UMC Utrecht, CTI Nierkens, van Rappard, Diane F., Klauser, Antoine, Steenweg, Marjan E., Boelens, Jaap Jan, Bugiani, Marianna, van der Knaap, Marjo S., Wolf, Nicole I., Pouwels, Petra J W, AIOS Psychiatrie, UMC Utrecht, CTI Nierkens, van Rappard, Diane F., Klauser, Antoine, Steenweg, Marjan E., Boelens, Jaap Jan, Bugiani, Marianna, van der Knaap, Marjo S., Wolf, Nicole I., and Pouwels, Petra J W

Published
2018

18. Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy : the Dutch experience

Author

van Rappard, Diane F, Boelens, Jaap J, van Egmond, Martje E, Kuball, Jurgen, van Hasselt, Peter M, Oostrom, Kim J, Pouwels, Petra J W, van der Knaap, Marjo S, Hollak, Carla E M, Wolf, Nicole I, van Rappard, Diane F, Boelens, Jaap J, van Egmond, Martje E, Kuball, Jurgen, van Hasselt, Peter M, Oostrom, Kim J, Pouwels, Petra J W, van der Knaap, Marjo S, Hollak, Carla E M, and Wolf, Nicole I

Published
2016

19. Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience

Author

CTI Nierkens, Regenerative Medicine and Stem Cells, Child Health, Infection & Immunity, CTI Kuball, MS Hematologie, Cancer, Metabole ziekten patientenzorg, van Rappard, Diane F, Boelens, Jaap J, van Egmond, Martje E, Kuball, Jurgen, van Hasselt, Peter M, Oostrom, Kim J, Pouwels, Petra J W, van der Knaap, Marjo S, Hollak, Carla E M, Wolf, Nicole I, CTI Nierkens, Regenerative Medicine and Stem Cells, Child Health, Infection & Immunity, CTI Kuball, MS Hematologie, Cancer, Metabole ziekten patientenzorg, van Rappard, Diane F, Boelens, Jaap J, van Egmond, Martje E, Kuball, Jurgen, van Hasselt, Peter M, Oostrom, Kim J, Pouwels, Petra J W, van der Knaap, Marjo S, Hollak, Carla E M, and Wolf, Nicole I

Published
2016

20. Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy

Author

van Rappard, Diane F., primary, Bugiani, Marianna, additional, Boelens, Jaap J., additional, van der Steeg, Alida F.W., additional, Daams, Freek, additional, de Meij, Tim G.J., additional, van Doorn, Martine M.A.C., additional, van Hasselt, Peter M., additional, Gouma, Dirk J., additional, Verbeke, Jonathan I.M.L., additional, Hollak, Carla E.M., additional, van Hecke, Wim, additional, Salomons, Gajja S., additional, van der Knaap, Marjo S., additional, and Wolf, Nicole I., additional

Published
2016
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21. Intrathecal baclofen in metachromatic leukodystrophy.

Author

Veldt, Nikki, Rappard, Diane F, Pol, Laura A, Knaap, Marjo S, Ouwerkerk, Willem J R, Becher, Jules G, Wolf, Nicole I, Buizer, Annemieke I, van der Veldt, Nikki, van Rappard, Diane F, van de Pol, Laura A, van der Knaap, Marjo S, and van Ouwerkerk, Willem J R

Subjects
METACHROMATIC leukodystrophy, NEUROLOGICAL disorders, BACLOFEN, MOVEMENT disorders, CEREBRAL palsy
Abstract

Copyright of Developmental Medicine & Child Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2019
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23. Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy.

Author

Tillema JM, Derks MG, Pouwels PJ, de Graaf P, van Rappard DF, Barkhof F, Steenweg ME, van der Knaap MS, and Wolf NI

Abstract

Objective: Metachromatic leukodystrophy (MLD) is an inherited lysosomal disorder due to a deficiency in arylsulfatase A with progressive demyelination and neurological decline. This retrospective MRI study investigated the extent of cortical involvement at time of diagnosis, and clinical correlates to both conventional and regional volumetric measures of brain involvement., Methods: 3D-T1-weighted MRI scans were used to determine cortical thickness and surface-based cerebral cortical gray matter (GM) and cerebral white matter (WM) volume (GMV and WMV), WM lesions, thalamus, and cerebellum. MRI-MLD severity scores were obtained from FLAIR images. Associations between clinical and imaging data were examined using correlation coefficients., Results: Twenty patients with MLD (mean age 13.7 years, range 2-35) and 20 controls (mean age 13.9 years, range 2-40) were included. Compared with control subjects, late-infantile, and juvenile patients (n = 14) had significantly diminished cerebral cortical GMV and thalamus volume (P < 0.05), but did not differ in WMV and cortical thickness. Adult patients (n = 6) showed significantly reduced GMV, WMV and cortical thickness (all P < 0.05). Regional analysis showed statistically significant cortical thinning in the cingulate gyrus and most pronounced thinning with age in the frontal lobe of MLD patients. Intelligence quotient (IQ) correlated with MRI-MLD scores (r = -0.87, P < 0.001)., Interpretation: Significant cerebral cortical GMV loss is already present in early stages of MLD. IQ correlates with WM severity scores and lesion volume, but not with volumetric measures. In adult presentations, there is more pronounced global atrophy with GMV and WMV loss and accelerated cortical thinning, most prominently in the cingulate gyrus and frontal lobes.

Published
2015
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