Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI
| Autor: | David Shera, John C. Haselgrove, Mitra Assadi, Dah Jyuu Wang, S. W J McPhee, Jeremy S. Francis, Andrew Freese, Christopher G. Janson, Larissa T. Bilaniuk, P. Hurh, Paola Leone |
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| Rok vydání: | 2006 |
| Předmět: |
Male
Magnetic Resonance Spectroscopy Canavan Disease Degenerative disease Nuclear magnetic resonance Reference Values Fractional anisotropy medicine Confidence Intervals Effective diffusion coefficient Humans Aspartic Acid medicine.diagnostic_test business.industry Leukodystrophy Age Factors Brain Infant Magnetic resonance imaging General Medicine Dipeptides medicine.disease Canavan disease Aspartoacylase Diffusion Magnetic Resonance Imaging Case-Control Studies Child Preschool Pediatrics Perinatology and Child Health Female Neurology (clinical) Atrophy Protons business Diffusion MRI |
| Zdroj: | Neuropediatrics. 37(4) |
| ISSN: | 0174-304X |
| Popis: | 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 ( (1)H-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. |
| Databáze: | OpenAIRE |
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