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Erschienen in: Journal of Inherited Metabolic Disease 5/2011

01.10.2011 | Original Article

Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course

verfasst von: Samuel Groeschel, Christiane Kehrer, Corinna Engel, Christine í Dali, Annette Bley, Robert Steinfeld, Wolfgang Grodd, Ingeborg Krägeloh-Mann

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 5/2011

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Abstract

Objective

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 the clinical course.

Methods

113 MR images of 68 patients (33 late-infantile, 35 juvenile) were studied cross-sectionally and longitudinally. MRI and motor deterioration were assessed using standardized scoring systems.

Results

The temporal and spatial patterns of MR severity scores differed between the late-infantile and juvenile form. Although early (involving central white matter, corpus callosum) and late signs (involving pons, cerebellum, cerebral atrophy) were similar, high MRI scores (mean 18, SD 1.2, p < 0.001) were evident in the juvenile form already at the onset of first symptoms and even in presymptomatic patients. The progression rate of the MRI score was clearly higher and more uniform in the late-infantile (on average 8 per year, p < 0.0001) than in the juvenile patients (on average 0.4 per year, p < 0.08). In late-infantile patients, MRI changes correlated highly with motor deterioration (rho = 0.73, p < 0.001), this was less remarkable in the juvenile form (rho = 0.50, p < 0.01). Severe motor dysfunction was associated with U-fiber involvement and cerebellar changes (p < 0.05).

Conclusions

MRI showed a typical spatial pattern, which evolved gradually and uniformly during disease progression in late-infantile MLD. In juvenile MLD MRI changes were already observed at disease onset and temporal patterns were more variable. As therapeutic options for MLD are evolving, these findings are not only important for patient counseling but also for the evaluation of therapeutic interventions.
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Metadaten
Titel
Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course
verfasst von
Samuel Groeschel
Christiane Kehrer
Corinna Engel
Christine í Dali
Annette Bley
Robert Steinfeld
Wolfgang Grodd
Ingeborg Krägeloh-Mann
Publikationsdatum
01.10.2011
Verlag
Springer Netherlands
Erschienen in
Journal of Inherited Metabolic Disease / Ausgabe 5/2011
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-011-9361-1

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