Long-term follow-up after gene therapy for canavan disease

• Published in: Science translational medicine Vol. 4; no. 165; p. 165ra163
• Main Authors: Leone, Paola, Shera, David, McPhee, Scott W J, Francis, Jeremy S, Kolodny, Edwin H, Bilaniuk, Larissa T, Wang, Dah-Jyuu, Assadi, Mitra, Goldfarb, Olga, Goldman, H Warren, Freese, Andrew, Young, Deborah, During, Matthew J, Samulski, R Jude, Janson, Christopher G
• Format: Journal Article
• Language: English
• Published: United States 19.12.2012
• Subjects: Aspartic Acid - analogs & derivatives; Aspartic Acid - metabolism; Brain - metabolism; Canavan Disease - metabolism; Canavan Disease - therapy; Child; Child, Preschool; Genetic Therapy; Humans; Infant; Prospective Studies

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 sev...