Meeting Banner
Abstract #4722

7T MRI and MR Spectroscopy of a Feline Model of Sandhoff Disease After AAV Gene Therapy

Heather Gray-Edwards 1 , Nouha Salibi 2,3 , Ashley Randle 1 , Ronald Beyers 4 , Hai Lu 5 , Shumin Wang 4,5 , Thomas Denney 4,5 , Diane U Wilson 1 , Judith Hudson 6 , Allison Bradbury 1 , Victoria McCurdy 1 , Ravi Seethamraju 2 , Aime Johnson 6 , Nancy Cox 1 , Miguel Sena-Esteves 7 , and Douglas Martin 1,8

1 Scott-Ritchey Research Center, Auburn University, Auburn, AL, United States, 2 Siemens Healthcare MR R&D, Malvern, PA, United States, 3 AU MRI Center, Auburn University, AL, United States, 4 AUMRI Center, Auburn University, AL, United States, 5 Department of Electrical and Computer Engineering, Auburn University, AL, United States, 6 Department of Clinical Sciences, Auburn University, AL, United States, 7 Medical School, University of Massachusetts, MA, United States, 8 Department of Anatomy, Physiology and Pharmacology, Auburn University, AL, United States

Sandhoff disease (SD) is a form of GM2 gangliosidosis in humans that is untreatable and fatal by 5 years of age. We performed intracranial AAV-mediated gene replacement in a feline model of SD, resulting in a >four-fold increase in lifespan and marked attenuation of neurologic signs. 7T MRI and MRS revealed partial normalization of brain architecture and metabolic changes, including reduction of a toxic metabolite, NAHex. Here we report, MRS detection of taurine in GM2 gangliosidosis, which may represent taurine-conjugated GM2, a novel mechanism for export of water insoluble GM2.

This abstract and the presentation materials are available to members only; a login is required.

Join Here