In vivo Assessment of the Cerebellum by Novel MRI Techniques and Application to Hereditary Ataxias: Morphological, Pathoanatomical and Clinical Aspects

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The aim of this collaboration project between the two partners from the University Clinic Essen and the Jena University Hospital is to obtain deeper insight into the pathoanatomy of cerebellar nuclei in common forms of degenerative ataxias by using novel MRI techniques, including quantitative susceptibility mapping, neurite orientation dispersion and density mapping, and diffusion-based fiber tractography. Cerebellar nuclei and their neuronal fiber connections will be studied in vivo in healthy subjects and in patients with hereditary (i.e., Friedreich`s ataxia, spinocerebellar ataxias type 1, 2, 3, 6, and 17) and nonhereditary degenerative ataxias (i.e., sporadic onset adult ataxia of unknown etiology, multi system atrophy - cerebellar type). Disease-related changes in volume and iron content of the nuclei as well as alterations in their afferent and efferent fiber connections will be compared between the different types of ataxia. In addition, possible clinical applications of these markers will be evaluated for the diagnosis and follow-up examination of degenerative ataxias. Answering these pathoanatomical and clinical aspects is supported by methodological developments that include automatic and robust segmentation of the cerebellar nuclei, collection of age-dependent normative reference data of their volume and magnetic susceptibility (an indicator for iron content), and the generation of probabilistic atlases of the nuclei and the white matter fiber tracts of the cerebellum to facilitate automatic analysis of MRI data.