Medicine, Dentistry & Health Sciences Collected Works - Theses

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    Investigation of volumetric, micro-structural and functional MRI brain changes in Friedreich ataxia
    Akhlaghi, Hamed ( 2011)
    Friedreich ataxia (FRDA) is caused by mutations in the FXN gene leading to inadequate expression of the protein frataxin. In addition to proximal spinal cord and brain stem atrophy in the early stages of FRDA, mild to moderate atrophy of the cerebellum has been reported in advanced FRDA. Despite recent advancements of neuroimaging in assessment of progression and severity of neurodegenerative diseases as well as utilisation as a biomarker tool, the neuroimaging studies on FRDA are scarce. In this PhD project, I used multi-modal MRI techniques including volumetric, micro-structural and functional methods to investigate in vivo characteristics and changes in FRDA.