Abstract #0909

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

Roy AM Haast¹, Dimo Ivanov², Ali R Khan^1,3, Irenaeus FM de Coo⁴, Elia Formisano^2,5, and Kamil Uludag^6,7

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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