Bony Abnormalities in Feline Models of GM 2 Gangliosidosis by

.........................................................................................................ii Acknowledgements............................................................................................iii List of Figures.................................................................................................................................vi List of Tables................................................................................................................................viii Chapter 1: Introduction a. GM2 Gangliosidosis.........................................................................................................1 b. Gene Therapy...................................................................................................................4 c. Specific Problem..............................................................................................................5 d. Study Objectives..............................................................................................................6 Chapter 2: Materials, Methods, and Literature Review a. Computed Tomography...................................................................................................7 b. Mimics, 3ds Max, and 3D Printing..................................................................................8 d. Literature Review...........................................................................................................14 Chapter 3: Bony Abnormalities in Cats with Sandhoff Disease a. Results............................................................................................................................18 b. Discussion......................................................................................................................42 c. Application in Veterinary and Human Medicine...........................................................46 Chapter 4: Summary a. Summary........................................................................................................................47 b. Conclusions....................................................................................................................48 c. Limitations.....................................................................................................................49 d. Future Research Paths....................................................................................................49 References......................................................................................................................................51 Appendix........................................................................................................................................53 μCT Definitions.................................................................................................................64 List of Figures Figure 1. Human ganglioside pathway............................................................................................3 Figure 2. 3D dorsal view of axial skeleton......................................................................................9 Figure 3. 3D left lateral view of axial skeleton................................................................................9 Figure 4. Representation of long bone measurements...................................................................10 Figure 5. 3D cranial view of left femur.........................................................................................11 Figure 6. 3D medial view of left femur.........................................................................................11 Figure 7. Representation of ventral length measurement..............................................................12 Figure 8. Representation of canal space measurement..................................................................13 Figure 9A. C1 canal space.............................................................................................................21 Figure 9B. C2 canal space.............................................................................................................21 Figure 10A. C1 ventral length.......................................................................................................22 Figure 10B. C2 ventral length........................................................................................................22 Figure 11A. T1 canal space...........................................................................................................23 Figure 11B. T2 canal space............................................................................................................24 Figure 12A. T1 ventral length........................................................................................................24 Figure 12B. T2 ventral length........................................................................................................25 Figure 13A. L1 canal space...........................................................................................................26 Figure 13B. L2 canal space............................................................................................................26 Figure 14A. L1 ventral length........................................................................................................27 Figure 14B. L2 ventral length........................................................................................................27 Figure 15A. C1/C2 compression site.............................................................................................30 Figure 15B. T1/T2 compression site..............................................................................................30 Figure 15C. L1/L2 compression site..............................................................................................31 Figure 16A. Average left femoral length.......................................................................................33 Figure 16B. Average right femoral length.....................................................................................33 Figure 17A. Average left tibial length...........................................................................................35 Figure 17B. Average right tibial length.........................................................................................35 Figure 18A. Average left humeral length......................................................................................37 Figure 18B. Average right humeral length....................................................................................37 Figure 19A. Average left ulnar length...........................................................................................40 Figure 19B. Average right ulnar length.........................................................................................40 Figure 19C. Average left radial length..........................................................................................41 Figure 19D. Average right radial length........................................................................................41 Figure 20A. 3D reconstructed skeleton.........................................................................................43 Figure 20B. 3D reconstructed skeleton..........................................................................................43 Figure A1. 3D reconstruction of μCT image of mature distal femora..........................................55 Figure A2. 3D reconstruction of μCT mature images...................................................................56 Figure A3. 3D reconstruction of μCT images of immature distal femora.....................................60 Figure A4. 3D reconstruction of μCT immature images...............................................................61 List of Tables Table 1. Cats in bony abnormality study.........................................................................................7 Table 2A. Vertebral measurements................................................................................................19 Table 2B. Vertebral measurements................................................................................................20 Table 3. Spinal cord compression site...........................................................................................29 Table 4. Femur measurements.......................................................................................................32 Table 5. Tibia measurements.........................................................................................................34 Table 6. Humerus measurements...................................................................................................36 Table 7. Ulna measurements..........................................................................................................38 Table 8. Radius measurements......................................................................................................39 Table A1.A μ-CT measurements..................................................................................................57 Table A1.B μ-CT measurements..................................................................................................58