Peer-reviewed veterinary case report
Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model.
- Journal:
- Annals of neurology
- Year:
- 2015
- Authors:
- Guo, Fuzheng et al.
- Affiliation:
- Institute for Pediatric Regenerative Medicine · United States
Abstract
Canavan disease is caused by inactivating ASPA (aspartoacylase) mutations that prevent cleavage of N-acetyl-L-aspartate (NAA), resulting in marked elevations in central nervous system (CNS) NAA and progressively worsening leukodystrophy. We now report that ablating NAA synthesis by constitutive genetic disruption of Nat8l (N-acetyltransferase-8 like) permits normal CNS myelination and prevents leukodystrophy in a murine Canavan disease model.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/25712859/