Biba Stanton1, Daisy Shinhmar2, Vicky Williams1, Camilla Blain1, Martin Turner3, Vincent Giampietro2, Marco Catani2, Steve Williams1, Nigel Leigh1, P M. Andersen4, Andy Simmons1,2
1Clinical Neuroscience, Institute of Psychiatry, London, UK; 2Centre for Neuroimaging Sciences, Institute of Psychiatry, London, UK; 3John Radcliffe Hospital, Oxford, UK; 4Umea University Hospital, Sweden
We tested the hypothesis that patients with Amyotrophic Lateral Sclerosis (ALS) homozygous for the D90A SOD1 mutation (homD90A) show less extensive white matter damage compared to sporadic cases. A voxel-based technique was used to compare diffusion tensor imaging data in 20 patients with sporadic ALS, 6 homD90A patients and 21 controls. homD90A patients showed lower MD and higher FA in motor and extra-motor pathways despite similar disease severity. DTI may provide a useful in vivo method of assessing WM pathology across phenotype and genotype.