Heather L. Gray-Edwards1,
Nouha Salibi2, Diane Wilson1, Ashley Randle1,
Ronald J. Beyers3, Thomas Stewart Denney3, Ravi T.
Seethamraju2, Shumin Wang3, Xiaotong Sun3,
Allison M. Bradbury4, Victoria J. McCurdy4, Aime K.
Johnson5, Nancy Cox1, Douglas R. Martin, 14
1Scott-Ritchey
Research Center, Auburn University, Auburn, Al, United States; 2MR
R&D, Siemens Healthcare, Malvern, PA, United States; 3Department
of Electrical and Computer Engineering, Auburn Univeristy, Auburn, AL, United
States; 4Anatomy, Physiology and Pharmacology, Auburn University,
Auburn, Al, United States; 5Clinical Sciences, Auburn University,
Auburn, Al, United States
Sandhoff disease (SD) is a form of GM2 gangliosidosis in humans that is untreatable and fatal by 5 years of age. Thee feline SD model has the same subunit mutation as Sandhoff patients. AAV2/rh8 vectors expressing feline hexosaminidase subunits were injected bilaterally into the thalamus and deep cerebellar nuclei of SD cats. MR images and Magnetic Resonance Spectroscopy (MRS) data were acquired on a 3 Tesla MAGNETOM Verio scanner. Untreated SD cat shows gray:white matter inversion and elevations of brain metabolites. Gene replacement in the feline SD model results in restoration of both brain architecture and metabolites.