Structural and functional brain signatures of C9orf72 in motor neuron disease

Publication date: Available online 6 June 2017
Source:Neurobiology of Aging
Author(s): Federica Agosta, Pilar M. Ferraro, Nilo Riva, Edoardo Gioele Spinelli, Teuta Domi, Paola Carrera, Massimiliano Copetti, Yuri Falzone, Maurizio Ferrari, Christian Lunetta, Giancarlo Comi, Andrea Falini, Angelo Quattrini, Massimo Filippi
This study investigated structural and functional MRI abnormalities in C9orf72 motor neuron disease (MND) relative to disease severity-matched sporadic MND cases. We enrolled 19 C9orf72 and 67 disease severity-matched sporadic MND patients, and 22 controls. Sporadic cases were grouped in patients with: no cognitive/behavioural deficits (sporadic-motor); same patterns of cognitive/behavioural impairment as C9orf72 cases (sporadic-cognitive); shorter disease duration vs other sporadic groups (sporadic-early). C9orf72 patients showed cerebellar and thalamic atrophy vs all sporadic cases. All MND patients showed motor, frontal and temporoparietal cortical thinning and motor and extramotor white matter damage vs controls, independent of genotype and presence of cognitive impairment. Compared with sporadic-early, C9orf72 patients revealed an occipital cortical thinning. C9orf72 patients had enhanced visual network functional connectivity vs sporadic-motor and sporadic-early cases. Structural cerebellar and thalamic damage and posterior cortical alterations are the brain MRI signatures of C9orf72 MND. Frontotemporal cortical and widespread white matter involvement are likely to be an effect of the disease evolution rather than a C9orf72 marker.



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