Valentina Battistoni1, Barbara Borroni2, Giovanni Giulietti1, Antonella Alberici2, Enrico Premi2, Carlo Cerini2, Silvana Archetti3, Roberto Gasparotti4, Carlo Caltagir
1Neuroimaging Laboratory, Santa Lucia Foundation IRCCS, Rome, Italy; 2Centre for Ageing Brain and Neurodegenerative Disorder, Neurology Unit, University of Brescia, Brescia, Italy; 3III Laboratory of Biotechnology, Brescia Hospital, Brescia, Italy; 4Neuroradiology Unit, University of Brescia, Brescia, Italy; 5Department of Clinical and Behavioural Neurology, Santa Lucia Foundation IRCCS, Rome, Italy; 6Department of Neuroscience, University of Rome 'Tor Vergata', Rome, Italy
Using diffusion MRI, we investigated the contribution of white matter damage in accounting for the clinical features driven by the GRN Thr272fs mutation in fronto-temporal lobar degeneration (FTLD). VBM showed atrophy of left medial frontal grey matter in mutation carriers (VBM analysis) compared to non-mutation carrier patients. Voxel-wise group comparisons showed anterior regions of FA reduction and increased MD in mutation carrier patients in the anterior corpus callosum. Post-hoc analysis showed a correlation between grey and white matter abnormalities in mutation carrier patients. Although this correlation does not imply causality between the two events, this cannot be ruled out.