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01.10.2011 | Original Article | Ausgabe 5/2011

Journal of Inherited Metabolic Disease 5/2011

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

Journal of Inherited Metabolic Disease > Ausgabe 5/2011
Samuel Groeschel, Christiane Kehrer, Corinna Engel, Christine í Dali, Annette Bley, Robert Steinfeld, Wolfgang Grodd, Ingeborg Krägeloh-Mann
Wichtige Hinweise
Communicated by Ed Wraith

Electronic supplementary material

The online version of this article (doi:10.​1007/​s10545-011-9361-1) contains supplementary material, which is available to authorized users.

Conflict of interest disclosures

The work was supported by a grant from the German Federal Ministry of Education and Research (LEUKONET).
Dr. Groeschel has received institutional research support from the German Federal Ministry of Education and Research and from Shire plc.
Dr. Kehrer has received institutional research support from the German Federal Ministry of Education and Research.
Dr. Engel reports no disclosures.
Dr. í Dali serves on a scientific advisory board for Shire plc and has received institutional research support from Shire plc and Zymenex A/S.
Dr. Bley has received institutional research support from the German Federal Ministry of Education and Research.
Dr. Steinfeld reports no disclosures.
Dr. Grodd reports no disclosures.
Dr. Krägeloh-Mann was member of the scientific board of the Scandinavian biopharmaceutical company ZYMENEX for a world-wide clinical trial I-study for enzyme replacement with the ZYMENEX’s product “Metazym” in 2007. This did not imply any involvement, nor funding in the present study.
All authors confirm independence of the sponsors; the content of the article has not been influenced by the sponsors.



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.


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.


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).


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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