Ontology highlight
ABSTRACT:
SUBMITTER: Leone P
PROVIDER: S-EPMC3794457 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
Leone Paola P Shera David D McPhee Scott W J SW Francis Jeremy S JS Kolodny Edwin H EH Bilaniuk Larissa T LT Wang Dah-Jyuu DJ Assadi Mitra M Goldfarb Olga O Goldman H Warren HW Freese Andrew A Young Deborah D During Matthew J MJ Samulski R Jude RJ Janson Christopher G CG
Science translational medicine 20121201 165
Canavan disease is a hereditary leukodystrophy caused by mutations in the aspartoacylase gene (ASPA), leading to loss of enzyme activity and increased concentrations of the substrate N-acetyl-aspartate (NAA) in the brain. Accumulation of NAA results in spongiform degeneration of white matter and severe impairment of psychomotor development. The goal of this prospective cohort study was to assess long-term safety and preliminary efficacy measures after gene therapy with an adeno-associated viral ...[more]