Abstract #2485

Neuromelanin and Volumetric Evaluation in Parkinson’s Disease Patients Carrying LRRK2 or GBA Mutations

Patrícia Paulino^1,2, Sofia Reimão³, Leonor Correia Guedes^4,5, Miguel A Carvalho^1,2, Daisy Abreu⁴, Jorge Campos³, Joaquim F Ferreira^4,5, and Rita G Nunes^1,6

¹Instituto de Biofísica e Engenharia Biomédica, Faculdade de Ciências, Universidade de Lisboa, Lisbon, Portugal, ²Physics Department, Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, Lisbon, Portugal, ³Neurological Imaging Department, Hospital de Santa Maria - Centro Hospitalar Lisboa Norte, Lisbon, Portugal, ⁴Clinical Pharmacology Unit, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal, ⁵Neurology Department, Hospital de Santa Maria - Centro Hospitalar Lisboa Norte, Lisbon, Portugal, ⁶Institute for Systems and Robotics / Department of Bioengineering, Instituto Superior Técnico, Universidade de Lisboa, Lisbon, Portugal

Previous studies in idiopathic Parkinson’s disease (iPD) have shown a reduction in the substantia nigra (SN) area hyperintense in Neuromelanin-sensitive MR images (NM-MRI). However, a few genetic mutations have been associated to PD. In this study we compared images obtained in iPD and in patients with LRRK2 or GBA mutations. Images were also acquired in control subjects. The area and contrast-ratio of SN in NM-MRI and the relative midbrain volumes were evaluated. There were no significant differences in volumes, but the SN area in NM-MRI accurately differentiated LRRK2 PD patients from controls. No differences were found between PD groups.

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