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Abstract #2792

Quantitative Susceptibility Mapping shows differences in substantia nigra of individuals with 22q11.2 deletion syndrome and controls

Nestor Andres Muñoz 1,2,3, Marisleydis García1,2,3, Carlos Milovic1,2,3, Manuel Chapa1,3,4, Cristian Montalba2,3,5, Julio Acosta-Cabronero6, Sergio Uribe2,3,5, Marcelo Andia2,3,5, Gabriela Repetto7, Analía Cuiza1, Cristian Tejos1,2,3, and Nicolás Crossley2,3

1Electrical Engineering, Pontificia Universidad Católica de Chile, Santiago, Chile, 2Biomedical Imaging Center, Santiago, Chile, 3Millennium Nucleus for Cardiovascular Magnetic Resonance, Santiago, Chile, 4Biomedical Imaging Center, Santiago, Chile, Santiago, Chile, 5Department of Radiology, Pontificia Universidad Católica de Chile, Santiago, Chile, 6Wellcome Centre for Human Neuroimaging, University College London, London, United Kingdom, 7Center of Genetics and Genomics, Santiago, Chile

Unlike individuals with Parkinson’s disease, patients with 22q11.2 deletion syndrome at risk of Parkinson show an increase in dopamine at striatal regions. Since iron levels are related to dopamine levels, we studied the difference of magnetic susceptibility between 17 patients with the deletion and 19 healthy individuals. Susceptibility measurements were obtained with QSM and then compared using a Mann Whitney U test. Results showed a significant difference in the substantia nigra, which indicates a possible cause for the increased levels of dopamine in 22q11.2 individuals at Parkinson’s risk.

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