Magnetic resonance imaging in spinocerebellar ataxias

Magnetic resonance (MR) imaging is widely used to visualize atrophic processes that occur during the pathogenesis of spinocerebellar ataxias (SCAs). T1-weighted images are utilized to rate the atrophy of cerebellar vermis, cerebellar hemispheres, pons and midbrain. Signal changes in the basal ganglia and ponto-cerebellar fibers are evaluated by T2-weighted and proton density-weighted images. However, two-dimensional (2D) images do not allow a reliable quantification of the degree of atrophy. The latter is now possible through the application of three-dimensional (3D) true volumetric methods, which should be used for research purposes. Ideally, these methods should allow automated segmentation of contrast-defined boundaries by using region growing algorithms, which can be applied successfully in structures of the posterior fossa and basal ganglia. Thin slice thickness helps to minimize partial volume effects. Whereas volumetric approaches rely on predetermined anatomical boundaries, voxel-based morphometry has been developed to determine group differences between different types of SCA (cross-sectional studies) or within one SCA entity (longitudinal studies). We will review recent results and how these methods are currently used to (i) separate sporadic and dominantly inherited forms of cerebellar ataxias; (ii) identify specific SCA genotypes; (iii) correlate patho-anatomical changes with SCA disease symptoms or severity; and (iv) visualize and estimate the rate of progression in SCA.