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Abstract #2337

Cortical thickness in relation to m.3243A>G mutation load in MELAS syndrome

Roy Haast1, Dimo Ivanov1, Jacobus F.A. Jansen2, Hubert Smeets3, Irenaeus de Coo4, Elia Formisano1, and Kâmil Uludağ1

1Department of Cognitive Neuroscience, Maastricht University, Maastricht, Netherlands, 2Department of Radiology, Maastricht University Medical Centre, Maastricht, Netherlands, 3Department of Genetics and Cell Biology, Maastricht University, Maastricht, Netherlands, 4Department of Neurology, Erasmus MC, Rotterdam, Netherlands

The m.3242A>G mitochondrial mutation is known to cause the MELAS syndrome. A group of MELAS patients was scanned using multi-parameter quantitative 7T MRI to assess brain changes related to mutation load and disease duration. Here, we focused on cortical thickness differences between control subjects and MELAS patients and within patients as a function of mutation load. MELAS patients were characterized by a reduced cortical thickness compared to control subjects in several regions. Within these regions, cortical thickness decreases with increasing mutation load for the fusiform and planum temporal gyri, which are involved in visual working memory and auditory processing, respectively.

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