期刊
NEUROPEDIATRICS
卷 37, 期 4, 页码 209-221出版社
GEORG THIEME VERLAG KG
DOI: 10.1055/s-2006-924734
关键词
Canavan disease; leukodystrophy; pediatric; brain; spectroscopy; magnetic resonance; NAA
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 (H-1-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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据