Non-genetic therapeutic approaches to Canavan disease

@article{Roscoe2016NongeneticTA,
  title={Non-genetic therapeutic approaches to Canavan disease},
  author={Rebecca B. Roscoe and Christina Elliott and Apostolos Ch Zarros and George S Baillie},
  journal={Journal of the Neurological Sciences},
  year={2016},
  volume={366},
  pages={116-124}
}
Canavan disease (CD) is a rare leukodystrophy characterized by diffuse spongiform white matter degeneration, dysmyelination and intramyelinic oedema with consequent impairment of psychomotor development and early death. The molecular cause of CD has been identified as being mutations of the gene encoding the enzyme aspartoacylase (ASPA) leading to its functional deficiency. The physiological role of ASPA is to hydrolyse N-acetyl-l-aspartic acid (NAA), producing l-aspartic acid and acetate; as a… CONTINUE READING
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