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

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

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56 Scopus citations

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

Keywords

  • Brain
  • Canavan disease
  • Leukodystrophy
  • Magnetic resonance
  • NAA
  • Pediatric
  • Spectroscopy

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