Abstract #2048

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

Aurea B. Martins-Bach¹, Carmelo Milioto^2,3, Shoshana Spring⁴, Mireia Carcolé^2,3, Thomas J. Cunningham⁵, Elizabeth M. C. Fisher⁶, Adrian M. Isaacs^2,3, 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

Synopsis

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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