Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of ...

We anticipate that further studies of the molecular basis of leukodystrophy will provide insight into its pathogenesis and hopefully lead to sophisticated diagnostic and treatment strategies.

Investigators have settled a long-standing controversy surrounding the molecular basis of an inherited disorder that historically affected Ashkenazi Jews from Eastern Europe but now also arises in ...

Scientists have known that genetic mutations leading to the production of a defective protein called GFAP cause Alexander disease (AxD), a debilitating neurodegenerative condition that can present ...

Children's Hospital of Philadelphia Preclinical Study Demonstrates Improved Gene Therapy Approach to Treating Metachromatic Leukodystrophy PR Newswire Tue, Mar 11, 2025, 11:00 AM 6 min read ...

The US Food and Drug Administration (FDA) has approved the first gene therapy for metachromatic leukodystrophy (MLD), a rare and debilitating genetic disease affecting the brain and nervous system ...