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Abstract #2048

Mild neuroanatomical phenotype in an ALS/FTD mouse model with mutation in C9orf72

Aurea B. Martins-Bach1, Carmelo Milioto2,3, Shoshana Spring4, Mireia Carcolé2,3, Thomas J. Cunningham5, Elizabeth M. C. Fisher6, Adrian M. Isaacs2,3, Brian J. Nieman4, Jason Lerch1, and Karla L. Miller1
1Wellcome Centre for Integrative Neuroimaging, FMRIB, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom, 2UK Dementia Research Institute at UCL, Faculty of Brain Sciences, University College London, London, United Kingdom, 3Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom, 4Mouse Imaging Centre, The Hospital for Sick Children, Toronto, ON, Canada, 5Mammalian Genetics Unit, MRC Harwell Institute, Oxfordshire, United Kingdom, 6Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom


Mutations in the C9orf72 gene are the most prevalent genetic alteration in ALS/FTD. This study investigates neuroanatomical phenotypes in two C9orf72 knock-in mouse models separately expressing either poly-(PR) or poly-(GR) dipeptide-repeats. Ex-vivo structural MRI (40 μm isotropic resolution) was acquired at 7T. After registration, the deformation fields were used to estimate voxels and region-of-interest volumes for comparison between mutants and wild-type mice. Although neuroanatomical phenotypes have been previously described in C9orf72 patients and other ALS/FTD mouse models, 20-month-old poly-(PR) and poly-(GR) mice presented subtle alterations. Further investigations to assess microstructural and histological changes in these mouse models are in progress.

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