Giovanni Rizzo1,2, Caterina Tonon1, Maria Lucia Valentino2, David Neil Manners1, Filippo Fortuna1,2, Cinzia Gellera3, Antonella Pini4, Sandro Ghezzo4, Agostino Baruzzi2, Claudia Testa1, emil Malucelli1, Bruno Barbiroli1, Valerio Carelli2, Raffaele Lodi1
1MR Spectroscopy Unit, Department of Internal Medicine, Aging and Nephrology, University of Bologna, Bologna, BO, Italy; 2Neurological Sciences, University of Bologna, Bologna, BO, Italy; 3U.O. Biochemistry and Genetics, Fondazione IRCCS-Istituto Neurologico Nazionale Carlo Besta, Milano, MI, Italy; 4Neuropsichiatric Unit, Ospedale Maggiore, Bologna, BO, Italy
Objectives. To define the extent of the brain damage in FRDA and to identify in vivo markers of neurodegeneration, using DWI. Methods. MD maps from 27 FRDA patients and 21 healthy volunteers were generated. ROI and histogram analysis was performed. Results. MD values of patients were higher than controls in medulla, pons, MCP, SCP, pyramidal tracts, and OR, as well as in whole brainstem, cerebellar hemispheres, cerebellar vermis and sovratentorial compartment, and correlated with genetic and clinical data. Conclusions. Neurodegeneration in FRDA is more extensive than previously reported, and DWI is a suitable technique to provide biomarkers of disease progression.