Canavan Disease Case Study
Evanie Clay
BSCI201 – Section
Canavan Disease
Physiology of Canavan Disease Canavan disease caused by genetic mutations is found in young babies. These children appear to be normal develop slower than others and are typically hypotonic, have poor head control, are behind on motor and verbal skills, and have head lag (Matalon & Michals-Matalon, 1999). It is defined as a deadly leukodystrophy as a result of aspartoacylse (APSA) deficiency which typically results in death by the first decade (Maier, Wang-Eckhardt, Hartmann, Gieselmann, & Eckhardt, 2015). Aspartoacylase hydrolyzes N-acetylaspartate (NAA) into aspartate and acetate in the brain (Maier et al., 2015). When aspartoacylase is deficient, NAA is in abundance and causes “swelling and spongy degeneration of white matter of the …show more content…
S., Li, H., Cao, C., Sikoglu, E. M., Denninger, A. R., Su, Q., … Gao, G. (2013). A Single Intravenous rAAV Injection as Late as P20 Achieves Efficacious and Sustained CNS Gene Therapy in Canavan Mice. Molecular Therapy, 21(12), 2136–2147.
Leone, P., Shera, D., McPhee, S. W. J., Francis, J. S., Kolodny, E. H., Bilaniuk, L. T., … Janson, C. G. (2012). Long-Term Follow-Up After Gene Therapy for Canavan Disease. Science Translational Medicine, 4(165), 165ra163.
Maier, H., Wang-Eckhardt, L., Hartmann, D., Gieselmann, V., & Eckhardt, M. (2015). N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time. The Journal of Neuroscience, 35(43), 14501-14516.
Matalon, R., Michals, K., & Kaul, R. (1995). Canavan disease: From spongy degeneration to molecular analysis. The Journal of Pediatrics, 127(4), 511-517.
Matalon, R., Michals-Matalon, K. (1999). Spongy degeneration of the brain, Canavan disease: Biochemical and molecular findings. Pediatric Pathology & Molecular Medicine, 18(6), 471-481.
Pearce, J. (2004). Canavan’s disease. Journal of Neurology, Neurosurgery, and Psychiatry, 75(10),
BSCI201 – Section
Canavan Disease
Physiology of Canavan Disease Canavan disease caused by genetic mutations is found in young babies. These children appear to be normal develop slower than others and are typically hypotonic, have poor head control, are behind on motor and verbal skills, and have head lag (Matalon & Michals-Matalon, 1999). It is defined as a deadly leukodystrophy as a result of aspartoacylse (APSA) deficiency which typically results in death by the first decade (Maier, Wang-Eckhardt, Hartmann, Gieselmann, & Eckhardt, 2015). Aspartoacylase hydrolyzes N-acetylaspartate (NAA) into aspartate and acetate in the brain (Maier et al., 2015). When aspartoacylase is deficient, NAA is in abundance and causes “swelling and spongy degeneration of white matter of the …show more content…
S., Li, H., Cao, C., Sikoglu, E. M., Denninger, A. R., Su, Q., … Gao, G. (2013). A Single Intravenous rAAV Injection as Late as P20 Achieves Efficacious and Sustained CNS Gene Therapy in Canavan Mice. Molecular Therapy, 21(12), 2136–2147.
Leone, P., Shera, D., McPhee, S. W. J., Francis, J. S., Kolodny, E. H., Bilaniuk, L. T., … Janson, C. G. (2012). Long-Term Follow-Up After Gene Therapy for Canavan Disease. Science Translational Medicine, 4(165), 165ra163.
Maier, H., Wang-Eckhardt, L., Hartmann, D., Gieselmann, V., & Eckhardt, M. (2015). N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time. The Journal of Neuroscience, 35(43), 14501-14516.
Matalon, R., Michals, K., & Kaul, R. (1995). Canavan disease: From spongy degeneration to molecular analysis. The Journal of Pediatrics, 127(4), 511-517.
Matalon, R., Michals-Matalon, K. (1999). Spongy degeneration of the brain, Canavan disease: Biochemical and molecular findings. Pediatric Pathology & Molecular Medicine, 18(6), 471-481.
Pearce, J. (2004). Canavan’s disease. Journal of Neurology, Neurosurgery, and Psychiatry, 75(10),