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

Research output: Contribution to journalArticle

55 Citations (Scopus)

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

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Canavan Disease
Diffusion Magnetic Resonance Imaging
Brain
Anisotropy
Statistical Models
Genetic Therapy
Stem Cells
Outcome Assessment (Health Care)
Pediatrics
Drug Therapy
Mutation
Proton Magnetic Resonance Spectroscopy
Genes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Janson, Christopher G. ; McPhee, S. W.J. ; Francis, Jeremy ; Shera, D. ; Assadi, M. ; Freese, A. ; Hurh, P. ; Haselgrove, J. ; Wang, D. J. ; Bilaniuk, L. ; Leone, Paola. / Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI. In: Neuropediatrics. 2006 ; Vol. 37, No. 4. pp. 209-221.
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Janson, CG, McPhee, SWJ, Francis, J, Shera, D, Assadi, M, Freese, A, Hurh, P, Haselgrove, J, Wang, DJ, Bilaniuk, L & Leone, P 2006, 'Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI', Neuropediatrics, vol. 37, no. 4, pp. 209-221. https://doi.org/10.1055/s-2006-924734

Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI. / Janson, Christopher G.; McPhee, S. W.J.; Francis, Jeremy; Shera, D.; Assadi, M.; Freese, A.; Hurh, P.; Haselgrove, J.; Wang, D. J.; Bilaniuk, L.; Leone, Paola.

In: Neuropediatrics, Vol. 37, No. 4, 01.08.2006, p. 209-221.

Research output: Contribution to journalArticle

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AU - Shera, D.

AU - Assadi, M.

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AU - Bilaniuk, L.

AU - Leone, Paola

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