Canavan disease is caused by ASPA deficiency, which results in accumulation of NAA in the brain. Aspartoacylase gene knockout in the mouse alters other genes expression without affecting NAAG. Treatment with rAAV2-ASPA resulted in increase ASPA activity over 3 months period. The levels of NAA in brain decreased and the spongy degeneration improved. Stem cell therapy was tried, but did not show a marked effect, most likely because of the small number of cells received. Gene expression studies may be of help in the follow up of therapeutic experiments.
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