Imaging of neurogenetic and neurometabolic disorders of childhood

Magnetic resonance imaging (MRI) has emerged as a powerful tool in the study of normal and abnormal brain structure, function, and biochemistry. In particular, functional MRI has come into its own as a tool to study normal and abnormal brain functions such as learning, memory, and motor learning, as well as delineation of neurogenetic cognitive phenotypes. White matter microstructure can be studied using diffusion tensor imaging, which may allow abnormal white matter to be visualized prior to abnormalities on anatomic MRI. Magnetic resonance spectroscopy, a noninvasive method to study brain biochemistry, may allow for the delineation of regional metabolic changes as a result of disease progression and/or therapeutic intervention. With MRI techniques, one can investigate the relationship between structure, function, genes, and behavior. This report discusses the research applications of MRI to the study of neurogenetic disorders of childhood.