Leukodystrophy isn’t just one disease; it’s actually a group of diseases that affect the central nervous system. Doctors are discovering new forms of leukodystrophy all the time, but experts currently ...

In metachromatic leukodystrophy (MLD), the deficiency of the lysosomal enzyme arylsulfatase A (ARSA) leads to demyelination in the central and peripheral nervous system and ultimately to death.

Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In nine families, we identified heterozygous C-terminal frameshift ...

The conclusions drawn by Zhang et al. may not align with current best practices and could risk creating false hope for MLD families. The Metachromatic Leukodystrophy Initiative (MLDi) critically ...