Thomas Martin Doring MSc, Presenter: Nothing to Disclose

Simone Karuta, Abstract Co-Author: Nothing to Disclose

Tadeu Takao Almodovar Kubo MSc, Abstract Co-Author: Nothing to Disclose

Emerson L. Gasparetto MD, Abstract Co-Author: Nothing to Disclose

To investigate the cerebral and cerebellar white matter tracts in patients with Friedreich Ataxia (FRDA) using diffusion tensor (DT) imaging and Tract-based spatial statistics (TBSS)

21 patients clinically confirmed with FRDA (mean age of onset was 13.8y, mean disease duration’s time was 27.7y) and 17 healthy controls, demographically matched, underwent MRI at 1.5T. Besides clinical routine protocol a DTI sequence was applied along 30 nonlinear directions and no gap. Diffusion parameter maps (FA, MD, AD, RD) were reconstructed offline using FSL. Statistical analysis was carried out by TBSS, performing voxelwise statistical analysis (permutation based inference) in the main fiber tracts, that are common in all subjects. Significant altered regions were identified on the multiple comparison corrected significance p maps according to the JHU ICBM DTI-81 WM labels Atlas

TBSS showed multiple areas with significant FA decrease (p<0.05) in patients with FRDA: superior cerebellar peduncles, fornix, posterior thalamic radiation, forceps, inferior fronto-occipital fasciculus and inferior longitudinal fasciculus (striatum), corpus callosum, corona radiata and corticospinal tracts. High statistically significant FA reduction (p<0.01) was found in left superior cerebellar peduncle, left posterior thalamic radiation, major forceps, left inferior fronto-occipital fasciculus and corpus callosum. MD and RD values where significant increased (p<0.05) at the superior cerebellar peduncle and striatum. AD values were significantly reduced at the corticospinal tracts

Applying TBSS in patients with FRDA showed extensive cerebral and principally cerebellar WM involvement. The known conventional neuroimaging findings of spinal cord volume reduction, do not explain all symptoms presented in the disease. These new findings can partially explain the non-medullar symptoms

The precise knowledge of brain areas that are affected in patients with Friedreichs Ataxia provides a better comprehension of the pathophysiology of the disease. Treatment strategies might be adapted to these findings

Doring, T, Karuta, S, Kubo, T, Gasparetto, E, Cerebral and Cerebellar Involvement in Patients with Friedreich Ataxia Disease: A Diffusion Tensor Imaging Study.  Radiological Society of North America 2014 Scientific Assembly and Annual Meeting, - ,Chicago IL. http://archive.rsna.org/2014/14019321.html