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

来自埃森大学诊所和耶拿大医院的两个合作伙伴之间的这个合作项目的目的是通过使用新的MRI技术，包括定量易感性制图、神经突定向分散和密度制图以及基于弥散的纤维束造影，更深入地了解退行性共济失调常见形式的小脑核的病理解剖学。将在健康受试者、遗传性（即弗里德赖希共济失调、脊髓小脑共济失调1、2、3、6和17型）和非遗传性退行性共济失调（即病因不明的散发性成人共济失调、多系统萎缩-小脑型）患者的体内研究小脑核及其神经元纤维连接。在不同类型的共济失调中，将比较核体积和铁含量的疾病相关变化以及它们的传入和传出纤维连接的变化。此外，这些标记物在退行性共济失调的诊断和随访检查中的可能临床应用将被评估。回答这些病理解剖和临床方面的问题需要方法学发展的支持，包括小脑核的自动和稳健分割，收集年龄相关的体积和磁化率（铁含量的指标）的规范参考数据，以及生成核和小脑白质纤维束的概率图谱，以促进MRI数据的自动分析。

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.