Gene Therapy Evaluated using In Vivo Diffusion Tensor Imaging

Joong Hee Kim¹, Adarsh S. Reddy², Mark S. Sands², Sheng-Kwei Song¹

Globoid-cell Leukodystrophy (GLD) is an inherited demyelinating disease caused by a deficiency of the lysosomal enzyme Galactosylceramidase (GALC). A previous study demonstrated dramatic synergy between CNS-directed AAV2/5 gene therapy and myeloreductive bone marrow transplantation (BMT) in the murine model of GLD (twitcher). In the present study, in vivo DTI was employed to evaluate the effect of gene therapy of twitcher mice demonstrating the treatment induced recovery of white matter integrity.