Objective: Neuropathological descriptions of the brain in Friedreich ataxia (FRDA) were obtained before availability of the molecular genetic test for this disease. Voxel-based morphometry (VBM) enables an unbiased whole-brain quantitative analysis of differences in gray matter (GM) and white matter (WM) density.
Methods: We assessed with VBM the brain structural damage in 22 patients with genetically confirmed FRDA and 25 healthy controls. The results were correlated with the disease duration and the severity of the patients clinical deficits that was evaluated with the International Cerebellar Ataxia Rating Scale and Inherited Ataxia Clinical Rating Scale.
Results: VBM showed in FRDA patients a symmetric volume loss in dorsal medulla, infero-medial portions of the cerebellar hemispheres, the rostral vermis and in the dentate region. No volume loss in cerebral hemispheres was observed. The atrophy of the cerebellum and medulla correlated with the severity of the clinical deficit and disease duration.
Conclusions: In FRDA significant GM and WM loss is observed only in the cerebellum and dorsal medulla. These structural changes correlate with the severity of the clinical deficit and disease duration.
- friedreichs ataxia
- voxel-based morphometry