To date, imaging studies have revealed patterns of patchy atrophy within the cerebellum of Friedreich's ataxia patients, missing clear correlations between anatomical changes and changes in function. This group applied a high-resolution atlas template of the human cerebellum and brainstem (called the SUIT template) to characterize regional cerebellar atrophy in Friedreich's ataxia (FRDA). They looked at a representative cohort of 18 FRDA patients and matched healthy controls. They found that the cerebellar volume in FRDA is generally not significantly different from healthy controls but mild lobular atrophy develops beyond normal aging. The medial parts of lobule VI, housing the somatotopic representation of tongue and lips, are the major site of this lobular atrophy, which possibly reflects speech impairment. The degree of extended white matter correlates with disease severity across and beyond the cerebellar inflow and outflow tracts. The dentate nucleus, as a major site of cerebellar degeneration, shows a mean volume loss of about 30%. Remarkably, not the atrophy but the T2 signal decrease of the dentate nuclei highly correlates with disease duration and severity.
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