These mice displayed a significant increase in sulfatide storage in the brain and peripheral nerves. Mice older than one year developed severe neurological symptoms. Nerve conduction velocity was significantly reduced due to hypomyelinated and demyelinated axons of the nerves.
Thus, increasing sulfatide storage in ASA-deficient mice leads to neurological symptoms and morphological alterations that are reminiscent of human MLD.
On behalf of the University Bonn, PROvendis offers access to the mouse models under a Material License Agreement. The two models are available in combination or separately.
Hess, B., et al. (1996) Phenotype of arylsulfatase A-deficient mice: Relationship to human metachromatic leukodystrophy. Proc. Natl. Acad. Sci. USA 93: 14821-6.
Ramakrishnan, H et al. (2007) Increasing Sulfatide Synthesis in Myelin-Forming Cells of Arylsulfatase A-Deficient Mice Causes Demyelination and Neurological Symptoms Reminiscent of Human Metachromatic Leukodystrophy, J. Neurosci., 27(35):9482-9490.