Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI

Christopher G. Janson, S. W.J. McPhee, Jeremy Francis, D. Shera, M. Assadi, A. Freese, P. Hurh, J. Haselgrove, D. J. Wang, L. Bilaniuk, Paola Leone

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Abstract

Canavan disease is a childhood leukodystrophy caused by mutations in the gene for human aspartoacylase (ASPA), which leads to an abnormal accumulation of the substrate molecule N-acetyl-aspartate (NAA) in the brain. This study was designed to model the natural history of Canavan disease using MRI and proton magnetic resonance spectroscopy (1H-MRS). NAA and various indices of brain structure (morphology, quantitative T1, fractional anisotropy, apparent diffusion coefficient) were measured in white and gray matter regions during the progression of Canavan disease. A mixed-effects statistical model was used to fit all outcome measures. Longitudinal data from 28 Canavan patients were directly compared in each brain region with reference data obtained from normal, age-matched pediatric subjects. The resultant model can be used to non-invasively monitor the natural history of Canavan disease or related leukodystrophies in future studies involving drug, gene therapy, or stem cell treatments.

Original languageEnglish (US)
Pages (from-to)209-221
Number of pages13
JournalNeuropediatrics
Volume37
Issue number4
DOIs
StatePublished - Aug 1 2006

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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    Janson, C. G., McPhee, S. W. J., Francis, J., Shera, D., Assadi, M., Freese, A., Hurh, P., Haselgrove, J., Wang, D. J., Bilaniuk, L., & Leone, P. (2006). Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI. Neuropediatrics, 37(4), 209-221. https://doi.org/10.1055/s-2006-924734