| 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 ( (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. |
| Authors | C 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
(Affiliation: UMDNJ-Robert Wood Johnson Medical School, Dept. of Neurosurgery, Camden, NJ 08103, USA. janson at memorymatters.org)
|
| Journal | Neuropediatrics
(Neuropediatrics)
Vol. 37
Issue 4
Pg. 209-21
(Aug 2006)
ISSN: 0174-304X Germany |
| PMID | 17177147
(Publication Type: Comparative Study, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
|
| Chemical References |
- Dipeptides
- Protons
- N-acetyl-1-aspartylglutamic acid
- Aspartic Acid
- N-acetylaspartate
|
| Topics |
- Age Factors
- Aspartic Acid
(analogs & derivatives, metabolism)
- Atrophy
- Brain
(pathology)
- Canavan Disease
(diagnosis)
- Case-Control Studies
- Child, Preschool
- Confidence Intervals
- Diffusion Magnetic Resonance Imaging
(methods)
- Dipeptides
(metabolism)
- Female
- Humans
- Infant
- Magnetic Resonance Spectroscopy
(methods)
- Male
- Protons
(diagnostic use)
- Reference Values
|
