Objective: Summarize current and potential future therapies for genetically determined leukodystrophies.
Methods: The current status and future potential of therapy was reviewed for each of the biochemically and genetically defined leukodystrophies and those therapeutic approaches that show promise were selected for presentation.
Results: Therapies can be effective for the following leukodystrophies:(Presymptomatic or early symptomatic therapy is required in all instances) 1) Chenodeoxycholic acid therapy for Cerebrotendinous Xanthomatosis 2) Dietary phytanic acid restriction, occasionally combined with plasma exchange, for Refsum Disease 3) Hematopoietic Stem Cell Transplantation (HCT) for presymptomatic or minimally symptomatic patients with infantile Globoid leukodystrophy and for patients with the juvenile or adult forms of this disorder, and at times for Metachromatic Leukodystrophy 4) For X-linked adrenoleukodystrophy. carefully timed and supervised adrenal hormone replacement. dietary therapy with “Lorenzo's Oil” and HCT. Studies in animal models and new technologies provide hope for several other leukodystrophies.
Conclusion: Therapies for leukodystrophies are emerging due to the capacity for presymptomatic diagnosis, new technologies and improved understanding of pathogenesis.
