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 García^1,2,3, Carlos Milovic^1,2,3, Manuel Chapa^1,3,4, Cristian Montalba^2,3,5, Julio Acosta-Cabronero⁶, Sergio Uribe^2,3,5, Marcelo Andia^2,3,5, Gabriela Repetto⁷, Analía Cuiza¹, Cristian Tejos^1,2,3, and Nicolás Crossley^2,3

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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