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.
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