Distinct patterns of microstructural changes in mouse models of ALS/FTD with mutations in Tardbp, Fus and C9orf72

Amyotrophic lateral sclerosis (ALS) and Frontotemporal dementia (FTD) form a disease spectrum with shared clinical, pathological and genetic features. The most common mutations in ALS/FTD are in the genes C9Orf72, TARDBP and FUS. We used post-mortem diffusion kurtosis imaging to assess microstructure imaging phenotypes in mouse models of ALS/FTD with mutations in these genes. While mice with mutation in Tardbp presented reduced FA and MO in various white matter tracts, no difference could be detected in mice with mutation in Fus, and increased MO in a portion of the corpus callosum was observed in mice with mutation in C9orf72.