Study of cerebral metabolic impairment in metachromatic leukodystrophy

Written on Tuesday 21 October 2014

Metachromatic leukodystrophy (MLD) is a neurodegenerative metabolic disease caused by a deficiency in a protein named arylsulfatase A.  The defect leads to the accumulation of sulfatides in the nervous system.

The aim of this study was to measure brain metabolic impairment in 4 children suffering from the late infantile form of the disease, with the help of a technique known as multi-voxel proton spectroscopy, which allows large areas of the brain to be examined.

As shown in the past using other techniques, the lactate/creatine ratio was found to be high. Lactate is a molecule implicated in the production of energy that is necessary for brain function.
The myo-inositol/creatine ratio was also high and this could be explained by the characteristic MLD gliosis, i.e. the proliferation and hypertrophy of brain helper and protective cells. Finally, a decrease in the N-acetylaspartate/creatine was observed, which reflects a diffuse neuron loss.

Although the study only concerns a small number of patients, the increases in myo-inositol and lactate are probably explained by the occurrence of gliosis during MLD. These two components represent potential biological markers to follow disease evolution in patients suffering from MLD.

Disease: Metachromatic leukodystrophy
Subjects: 4 children of 3 to 5 years old, suffering from a late infantile form of MLD
Study type: Cerebral imaging
Laboratory: Dr. Assadi Mitra, Department of Neurology and Pediatrics, Robert Wood Johnson Faculty of Medecine, Camden (NJ), USA.

Source : M. Assadi, D.J. Wang, Y. Velazquez-Rodriquez, P. Leone. Multi-Voxel 1H-MRS in Metachromatic Leukodystrophy. J. Cent. Nerv. Syst. Dis. 2013, 5:25-30.

Scientific information provided in collaboration with the INIST-CNRS Institute, Institute for Scientific and Technical Information