Huntington's disease: Brain imaging in Huntington's disease

Huntington's disease (HD) gene-carriers show prominent neuronal loss by end-stage disease, and the use of magnetic resonance imaging (MRI) has been increasingly used to quantify brain changes during earlier stages of the disease. MRI offers an in vivo method of measuring structural and functional brain change. The images collected via MRI are processed to measure different anatomical features, such as brain volume, macro- and microstructural changes within white matter and functional brain activity. Structural imaging has demonstrated significant volume loss across multiple white and gray matter regions in HD, particularly within subcortical structures. There also appears to be increasing disorganization of white matter tracts and between-region connectivity with increasing disease progression. Finally, functional changes are thought to represent changes in brain activity underlying compensatory mechanisms in HD. This chapter will provide an overview of the principles of MRI and practicalities associated with using MRI in HD studies, and summarize findings from MRI studies investigating brain structure and function in HD.