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Abstract #0909

Neurodegenerative and functional signatures of the cerebellar cortex in m.3243A>G patients

Roy AM Haast1, Dimo Ivanov2, Ali R Khan1,3, Irenaeus FM de Coo4, Elia Formisano2,5, and Kamil Uludag6,7
1Robarts Research Institute, Western University, London, ON, Canada, 2Department of Cognitive Neuroscience, Maastricht University, Maastricht, Netherlands, 3Department of Medical Biophysics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada, 4Department of Genetics and Cell Biology, Maastricht University, Maastricht, Netherlands, 5Maastricht Center for Systems Biology, Maastricht University, Maastricht, Netherlands, 6Institute for Basic Science, Center for Neuroscience Imaging Research, Department of Biomedical Engineering, Sungkyunkwan University, Suwon, Republic of Korea, 7University Health Network, Toronto, ON, Canada

The m.3243A>G mutation is the most commonly observed mitochondrial mutation in humans. It causes a wide range of phenotypes, ranging from normal healthy aging to a severely affected quality of life through neuroradiological changes and cognitive impairment. Here, we studied the cerebellar changes in these patients and showed significant local reductions in gray matter tissue volume and functional connectivity using 7T MRI. Interestingly, its white matter remains relatively intact. Taken together, the current results contributes to the still limited understanding of brain pathologies in m.3243A>G patients.

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