Improvement of White Matter Changes on Neuroimaging Modalities After Stem Cell Transplant in Metachromatic Leukodystrophy

Egmond, Martje E van; Pouwels, Petra J. W.; Boelens, Jaap Jan; Lindemans, Caroline A.; Barkhof, Frederik; Steenwijk, Martijn D.; Hasselt, Peter M. van; Knaap, Marjo S. van der; Wolf, Nicole I.

doi:10.1001/jamaneurol.2013.629

Cited by 47 publications

(41 citation statements)

References 11 publications

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“…Concentration ratios have higher reproducibility, and since we previously showed that Cho/NAA is sensitive for improvement after HCT,12 we chose to display this ratio in figure 5B. Although this ratio slightly increased in some patients in the first examination after HCT, this was reversible in all patients with good outcome.…”

Section: Resultsmentioning

confidence: 99%

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

Rappard¹,

Klauser

Steenweg³

et al. 2017

J Neurol Neurosurg Psychiatry

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Section: Resultsmentioning

confidence: 99%

“…One patient was described before 12. MLD was diagnosed by brain MRI, ASA activity and ARSA mutation analysis.…”

Section: Methodsmentioning

confidence: 99%

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

Rappard¹,

Klauser

Steenweg³

et al. 2017

J Neurol Neurosurg Psychiatry

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“…Given the variability in the clinical course, this is not only important for patient counseling, but also for treatment decision as discussed above. It has been shown that the treatment effect of HSCT, currently the only clinically available treatment option for juvenile MLD, might take some time to have an effect 8, 32, 33. Therefore, it seems essential to have additional parameters in order to predict whether the individual patient will deteriorate rapidly or might still have a wide enough window of opportunity for HSCT.…”

Section: Discussionmentioning

confidence: 99%

Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy

Strölin

Krägeloh‐Mann

Kehrer

et al. 2017

Ann Clin Transl Neurol

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ObjectiveThe aim of this study was to investigate whether the extent and topography of cerebral demyelination correlates with and predicts disease progression in patients with juvenile metachromatic leukodystrophy (MLD).MethodsA total of 137 MRIs of 46 patients with juvenile MLD were analyzed. Demyelination load and brain volume were quantified using the previously developed Software “clusterize.” Clinical data were collected within the German Leukodystrophy Network and included full scale intelligence quotient (FSIQ) and gross motor function data. Voxel‐based lesion‐symptom mapping (VLSM) across the whole brain was performed to investigate the spatial relationship of cerebral demyelination with motor or cognitive function. The prognostic value of the demyelination load at disease onset was assessed to determine the severity of disease progression.ResultsThe demyelination load (corrected by the individual brain volume) correlated significantly with gross motor function (r = +0.55) and FSIQ (r = −0.55). Demyelination load at disease onset was associated with the severity of disease progression later on (P < 0.01). VLSM results associated frontal lobe demyelination with loss in FSIQ and more central region demyelination with decline of motor function. Especially progression of demyelination within the motor area was associated with severe disease progression.InterpretationWe were able to show for the first time in a large cohort of patients with juvenile MLD that the demyelination load correlates with motor and cognitive symptoms. Moreover, demyelination load at disease onset, especially the involvement of the central region, predicts severity of disease progression. Thus, demyelination load seems a functionally relevant MRI parameter.

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“…Three of them showed high Eichler scores, from 18 to 26, before transplantation. Patient series have reported either stabilization 31 or failure after HSCT 32 in juvenile and adult MLD patients. Better evidence favoring HSCT in juvenile MLD was recently obtained, when the neurological follow-up of 24 transplanted patients was better than those of 41 non-transplanted patients 10 .…”

Section: Discussionmentioning

confidence: 99%

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome

Saute

Souza

Poswar

et al. 2016

Arq. Neuro-Psiquiatr.

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Hematopoietic stem cell transplantation (HSCT) is the only available treatment for the neurological involvement of disorders such as late-onset metachromatic leukodystrophy (MLD), mucopolysaccharidosis type I-Hurler (MPS-IH), and X-linked cerebral adrenoleukodystrophy (CALD). Objective To describe survival and neurological outcomes after HSCT for these disorders. Methods Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. Results Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications. Nine transplanted patients were alive after a median of 3.7 years: neurological stabilization was obtained in 5/6 CALD, 1/2 MLD, and one MPS-IH patient. Brain lesions of the MPS-IH patient were reduced four years after HSCT. Conclusion Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and/or from a related donor.

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Improvement of White Matter Changes on Neuroimaging Modalities After Stem Cell Transplant in Metachromatic Leukodystrophy

Cited by 47 publications

References 11 publications

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

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

Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome

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